Discussion paper presented by Niall O’Reilly at 6th International ‘Life & Development Forum’ – “We Make Life Better – Hangzhou, White Horse Lake Jianguo Hotel , November 8-9, 2013.
Sustainable development is a continuous, guided process of economic, environmental and social change aimed at promoting the well-being of citizens now and in the future. To realise this requires creating a sustainable and resource efficient economy founded on a fair and just society, which respects the ecological limits and carrying capacity of the natural environment (Source: Wikipedia)
In 2013, the economic situation in Ireland is dramatically different to the earlier part of the last decade, when Ireland was known as The Celtic Tiger. Measured against the standard indicators of GDP, and GNP – trends for economic development, new housing output, tax revenues, and employment levels have dropped sharply.
We have also seen rising unemployment, a banking crisis and a collapse in the property market after a sustained, if unsustainable, boom in the property market. A number of factors drove these unsustainable trends, including: rapid growth in employment, large scale inward migration (annual immigration rose sharply from 52,600 persons in 2000 to peak at 109,500 in 2007) (2), rapid natural population growth (17% increase between 1996 and 2006), fiscal incentives for the construction sector, rising car ownership and weakness in the strategic approach to spatial planning.
At a time of rapidly rising prosperity and development, the existing structures and controls were not strong enough to withstand the pressures that unavoidably arose.
This legacy leaves Ireland facing huge challenges in the period ahead, challenges that are all the more serious when set against the backdrop of a global economic downturn.
The sustainability pressures on the economy continue to be high and while some progress has been made, there is still a distance to travel before Ireland can fully remove itself from what is the most serious fiscal and economic crisis in the history of the Republic of Ireland.
In meeting the challenge, the Irish Government is implementing a radical Framework for Sustainable Development for Ireland – a national recovery agenda, which seeks to integrate sustainable development principles into policy making across all sectors, for the purpose of stimulating:
the transformation of public services
economic growth based on knowledge and innovation
an inclusive, high employment society
a greener low carbon economy
and a good quality natural and built-environment so that Ireland can once again prosper on a competitive global stage.
Lessons must be learnt from Ireland’s recent experience and Ireland will have to ensure structures and systems are put in place that are strong enough to survive periods of pressure which might threaten to weaken sustainable growth and fiscal stability.
It is widely accepted that economic growth, social unity and environmental protection are equally important targets for meeting the prime objective of delivering well-being in a diverse multi-cultured society that promotes participation, a society in which everyone takes responsibility for the environment.
While the establishment of a more sustainable pattern of development for Ireland is one of the key challenges of government and ultimately for society, there is also a clear consensus that a return to ‘business as usual’ is not an option.
At a global level there is a growing consensus that the world’s systems of production and consumption cannot be sustained without posing a huge threat to the environment and to human health. Water scarcity, air and water pollution, climate change, resource depletion and irreversible biodiversity loss are problems that have to be tackled as a matter of priority.
Consensus is now focusing around the need to put economies on a more sustainable, green growth path on the basis that the cost of sustaining biodiversity and ecosystem services is lower than the cost of allowing biodiversity and ecosystem services to decline.
For Ireland ‘green growth’ and the ‘green economy’ are now fundamental aspects of Government policy as the country shifts away from the ‘brown economy’ on the road to becoming a low-carbon, competitive, resource efficient and climate resilient country, policy which will ultimately improve its citizens’ well-being and social equity, while significantly reducing environmental risks and ecological scarcities.
Economic, environmental and social progress are mutually related.
Ireland’s Framework for Sustainable Development
This Framework contains measures to help meet the overall goal of achieving continuous improvement of quality of life both for current and for future generations.
The following set of 7 principles for sustainable development are the central aspects of this Framework for Sustainable Development for Ireland:
In relation to “economy”, the principle seeks “to promote an innovative, competitive and low carbon economy with the aim of achieving smart, sustainable and inclusive growth” and to reduce pressure on natural resources
In relation to “satisfaction of human needs by the efficient use of resources” the key objectives are that:
(a) “Prices should reflect the real costs to society of production and consumption activities and polluters should pay for the damage they cause to human health and the environment”
(b) “The needs of current generations should be addressed without compromising the ability of future generations to meet their needs”
(c) “Resources should be used within the capacity for regeneration”
3. In relation to “respect for ecological integrity and biodiversity” the Framework seeks to ensure that “the abundance of wildlife and extent of habitats should be maintained, improved and restored where necessary, through sustainable management”
4. In relation to “social equity” the main principle is that “social inclusion should be promoted to ensure an improved quality of life for all”
5. In relation to “respect for cultural heritage and diversity” the Framework will ensure that “the quality of landscapes, the heritage of the man-made environment and historic and cultural resources should be maintained and improved”.
6. In relation to “Equity between countries and regions” Ireland will:
(a) “promote fundamental rights, by combating all forms of discrimination and contributing to the reduction of poverty”
(b) “promote consistency between local, regional, national, European Union (EU) and global actions in order to increase their contribution to sustainable development”
7. The 7th and final theme of Ireland’s Framework for Sustainable Development relates to good “decision-making”. In this regard, the framework will aim to:
(a) Guarantee citizens’ rights of access to information and public participation procedures.
(b) Ensure citizens’ access to review mechanisms.
(c) Develop adequate consultation with all interested parties, including citizens, businesses and social partners (such as trade unions), and develop participatory channels for all such interested parties.
Of course there are challenges.
Ireland’s Sustainable Development Framework catagorises 12 the key challenges under the following themes:
Sustainability of public finances and economic resilience.
Sustainable consumption and production.
Conservation and management of natural resources.
Climate change and clean energy.
Social inclusion, sustainable communities and spatial planning.
Education, communication and behaviour change.
Innovation, research and development
Skills and training
The 12th challenge is how to address global poverty and sustainable development.
I will now briefly explain Government-led initiatives regarding two of these themes: sustainable transport and public health
Smarter Travel – A Sustainable Transport Future
Transport, which is a key element of a sustainable development strategy, should be closely aligned to land use planning and the need to create more sustainable communities.
Sustainable transport is central to Ireland’s efforts to combat climate change, air pollution and other negative environmental and social impacts.
Transport trends in Ireland from the mid 1990’s onwards are unsustainable. The main problems associated with transport in Ireland are:
Rising pollution – greenhouse gases and particular air pollutants which are detrimental to health and the environment such as nitrous oxides (NOx) and volatile organic compounds (VOCs).
Increasing congestion on roads that lengthens journey times, adversely impacts on family, leisure time, and community life, contributes to the growing problem of obesity, and adds to pollution and costs at many levels including affecting Ireland’s national competitiveness. In Ireland there is a clear appetite to abandon the car for commuter driver, if only this were practical.
Safety also remains a key issue despite the steadily decreasing numbers of road deaths.
In addition, a key characteristic that distinguishes energy use in transport in Ireland is the almost total dependence on oil as a fuel and on import dependency, over 99% in both cases.
Without intervention, congestion will get worse, economic competitiveness will suffer, quality of life will deteriorate and carbon emissions from the transport sector will grow.
In order to achieve a sustainable travel and transport system by 2020, Ireland needs to change its unsustainable behaviour and habits as a nation and as individuals.
Sustainable and smarter transport measures currently being implemented by the Government under the Framework for Sustainable Development are set out in four key goals:
Goal 1 – to “reduce overall travel demand and the distance traveled by private car” and encourage smarter travel, including
focusing population and employment growth in sustainable compact forms, which reduce the need to travel for employment and services
using pricing mechanisms or fiscal measures to encourage behaviour change and discourage people from using the car unnecessarily.
Goal 2 – to “maximise the efficiency of the transport network” by ensuring that alternatives to the car are more widely available mainly through a radically improved public transport service and investment in cycling and walking.
Goal 3 – to reduce reliance on foss1il fuels and emissions by improving the fuel efficiency of motorised transport through
improved fleet structure
energy efficient driving
Goal 4 – to improve accessibility to transport.
To achieve these goals the Government is pursuing a number of key targets such as:
Dramatically improving the placement of spatial and transport planning to stop urban sprawl, and urban-generated one-off housing in non-urban areas
Encouraging e-working through better broadband provision
500,000 more people will take alternative means to commute to work (200,000 people will switch to cycling and walking) to the extent that the total share of car commuting will drop from 65% to 45%
Alternatives such as walking, cycling and public transport will be supported and provided to the extent that these will rise to 55% of total commuter journeys to work
The total kilometres travelled by the car fleet in 2020 will not increase significantly from current levels
A reduction will be achieved on the 2005 figure for greenhouse gas emissions from the transport
These key targets are ambitious. However, they are necessary to improve the quality of life of Ireland’s citizens, to secure future energy supply, and to ensure that the transport sector substantially reduces greenhouse gas emissions, in line with the need for all developed nations to do so. These targets represent a complete turnaround in the current trends. They mean that the Irish public must radically alter how they travel, and that Government priorities in the transport sector must move towards more sustainable modes.
Smarter Travel and Sustainable Transport Ideas:
Specification of a maximum permitted level of car parking for Government offices and commercial sites, which have suitable public transport facilities and are within walking/ cycling distance to amenities
The adoption of flexible working policies. The Government has provided leadership in promoting such flexible policies in the public sector
Ensuring that every school and college in Ireland has a school travel plan to encourage students to take alternatives to the car.
Government commitment to a culture of walking in Ireland
A car-sharing website which will help employers to encourage such initiatives in the workforce.
One smart-card to pay for all forms of public transport
Conversion of taxi and public bus fleet to alternative fuels.
A Healthy Ireland
Public health protection is an essential goal for society in delivering well-being and quality of life. Ireland has made significant progress in regard to the health of its population, but some key challenges remain.
The rise in life expectancy in Ireland during the past decade has been unmatched by any other country in Europe with the greatest gains in the older age groups reflecting decreasing mortality rates from major diseases.
In fact, the most important statistic from a health perspective is the number of people over the age of 65 which is projected to increase from over 500,000 now to over 1,300,000 in the next 30 years with the greatest proportional increases occurring in the 85+ age group.
However, Ireland’s ageing population, together with negative trends in obesity (60% of adults are obese), diet, exercise and other risk factors – such as smoking [6,000 deaths a year), and alcohol abuse (related road accidents cost over Euro 600 million a year) means that the level of chronic health conditions will certainly increase.
In addition, there are a range of social determinants of health, for example social exclusion, education, health services, the built environment and lifestyle choices:
People who are less well off or who belong to socially excluded groups tend to fare badly in relation to these social determinants
A healthy environment is also absolutely linked to the health of Ireland’s population which relies for survival on clean air and water and the crops we are able to grow in uncontaminated soil. Public amenities such as forest parks provide opportunities for recreation and add to our understanding of the environment thus supporting healthier lifestyles while contributing to our well-being.
The Irish Government’s Healthy Ireland frameworkis about taking important steps towards making Ireland a healthier and more prosperous country in which the whole population enjoys the best possible health and well-being.
It is designed to include Government Departments, local authorities and public bodies, businesses and employers, sports and voluntary groups, communities and families.
Initiatives within the Healthy Ireland Framework have four goals:
Goal 1: Increase the proportion of people who are healthy at all stages of life:
This means addressing risk factors and promoting protective factors at every stage of life – from pre-natal, through early childhood, adolescence, adulthood and into old age, to support lifelong health and well-being.
Initiatives in this context include:
Increasing the number of adults (by 5%) and children (6%) with a healthy weight by 2019
Increasing by 20% the proportion of adults eating the recommended five or more servings of fruit and vegetables per day
Reducing smoking among young people by 1% a year
Decreasing levels of self-harm across all life stages
Increasing by 20% of proportion of the population undertaking regular physical activity
Goal 2: Reduce health inequalities:
Health and well-being are not evenly distributed across Irish society. This goal requires not only interventions to target particular health risks, but also a broad focus on addressing the wider social determinants of health – the circumstances in which people are born, grow, live, work and age – to create economic, social, cultural and physical environments that foster healthy living.
Initiatives in this context include:
Increasing the ‘stay at school’ rates of students in second-level schools
Reducing the % of the population in consistent poverty from current 6% to 2% or less by 2020.
Increasing self-reported happiness and well-being across socio-economic groups.
Goal 3: Protect the public from threats to health and well-being:
The Healthy Ireland Framework is designed to ensure effective strategies and interventions to protect the public from new and emerging threats to health and well-being are implemented. Being prepared to prevent, respond to, and rapidly recover from public health threats through collaborative working is critical for protecting and securing the population’s health.
Initiatives in this context include:
Increasing immunization rates for children to 95% uptake
Reducing prevalence of food-borne infections in compliance with Ireland and EU legislation
Complying with indicators defined in International Health Regulations, World Health Organisation (WHO).
Goal 4: Create an environment where every individual and sector of society can play their part in achieving a Healthy Ireland:
It is beyond the capability of any one Government Department or organisation to promote society-wide health and well-being. This can only be done through society-wide involvement in and engagement with health and well-being promotion and improvement activities – from individuals making positive lifestyle choices and projects run by community and local groups, to policy and legislative changes at the highest level of government.
Initiatives in this context include:
Establishing key indicators measuring the level, range and effectiveness of cross government collaboration and effectiveness of structures.
Increasing percentage of people participating in informal, unpaid charitable work.
The current health status of people living in Ireland, lifestyle trends and inequalities in health outcomes are leading Ireland toward a future that is dangerously unhealthy and very likely unaffordable. The work that is underway to build a health service that is accessible and fair will only succeed if Ireland builds an environment that supports people and their families to lead healthier lifestyles.
Evidence and experience from around the world clearly shows that to create positive and sustainable change in health and well-being, it takes the involvement of the whole community, the whole of Government, all of society working in unison.
In conclusion, having endured the worst crisis in the history of the Republic of Ireland, by placing Sustainable Development as a critical component in Ireland’s Agenda for National Recovery the Government is clearly focused on pursuing coherent policies and sustainable actions for the health and well-being of the country’s most valuable asset: Its people.
Given Ireland’s present economic condition investment in the necessary infrastructure elements of the Framework for Sustainable Development will be challenging. However, the real challenge is to change mindsets, so that Ireland’s institutions and individual citizens realise the benefits from altering their behaviour for the common good.
Managing Director, Accurate Group Ireland China Market Makers (Route to Market, Export, Import, Partner Due Diligence)
Ballyhanna Man – Early Evidence of Hereditary Multiple Exostoses in Ireland
He occupies pride of place in a specially constructed case at Donegal Museum in Letterkenny in far-flung rugged North West Ireland, and was a key focus of the Ballyhanna Research Project funded by Ireland’s National Roads Authority (NRA) and involving cross-border collaboration between Queen’s University Belfast and the Institute of Technology in Sligo.
Dating at least 600 years, from 1100-1400, ‘Ballyhanna Man’ was one of 1,200 skeletal remains found by archaeologists around a buried church less than a mile south of Ballyshannon, on the banks of the River Erne, in 2006.
And what makes him so interesting is that he is the first intact case of Hereditary Multiple Exostoses (HME) / Diaphyseal Aclasis to have emerged in Irish archaeology and one of the very few in the world.
Research (which is ongoing) evidence so far indicates he was a young adult of about 25 years old when he died (typical of the mortality rate of the other non-HME male remains excavated at the burial site). Projecting bony lumps were evident on the upper and lower limbs: Two bones on each lower leg were fused together, and he was knock kneed. His arms were bow-shaped, with the left arm noticeably shorter.
Ballyhanna Man’s condition would have meant he suffered from pain and was very much disabled, and yet it is unlikely he would have survived to such an age without some form of support. He appears to have been afforded the same Christian burial as other remains. Regarding his quality of life, given he would have had HME since childhood, who knows?
Given the congenital nature of HME, osteoarchaeologists are working to establish family ties between Ballyhanna Man among the other remains. The remains of a second, man, young to middle aged adult in his late 30’s to 40’s, exhibiting lumps that would have been less obvious than those which afflicted Ballyhanna Man, were also excavated in the same burial ground. According to researchers radiocarbon dating indicates he died several hundred years before Ballyhanna Man, which may point to the HME gene existing within the group for a considerable period of time.
The hope is that in future advancements in genetics and DNA research will provide evidence regarding how HME has evolved.
In addition to the two skeletal remains uncovered by archaeologists at Ballyhanna, two skeletal remains with indications of HME were uncovered by archaeologists in Dublin: The remains of a young to middle-aged female were excavated from a medieval cemetery on St. Stephen’s Street, while a young adult male, dating back to later early Christian era, was exhumed in Kilshane.
In the study of ancient diseases that is paleopathology four of the 16 known cases of HME are specific to Ireland, and a further three cases specific to England (the remaining nine ancient cases of HME are located in Jordan, Zimbabwe, Peru, Sweden, Poland and Canada). As such, is living on an isolated island in any way significant in the context of a higher HME prevalence in the UK and Ireland?
The purpose of this blog (updated June, 2019) is to provide a focal point of support and information for family members and persons living in Ireland and beyond who have Hereditary Multiple Exostoses (HME) in order to encourage them to share their experiences so that people in general will have a clearer understanding of this rare condition and how challenging affected lives can be.
Ballyhanna Man – Early Evidence of Hereditary Multiple Exostoses in Ireland
HME and Me
What is Hereditary Multiple Exostoses?
Prevalence and geographical reach
What complications are caused by HME?
What are the chances of transmitting HME to your children?
Pre-Implantation Genetic Diagnosis (PGD): Karyomapping and MALBAC
Traditional Chinese Medicine (TCM)
Omega-3 Krill Oil
Prognosis – The Good News
HME and Autism / Asperger Syndrome linkage?
HME and animals?
Dorsal Foot Exostosis
Is that a bunion or exostosis protruding from your foot?
Orthopaedic / Neurological Consultant / Surgeon HME Knowhow in Ireland
Support resources for HMEers and their families
HME and Me
I recall being about nine years old, maybe younger, when I first noticed the large tender lump protruding from my left shoulder blade like a Rhino horn. I soon became very self-conscious as bone protrusions multiplied to cover my legs (femur, tibia, and fibula), arms (humerus, radius, and ulna), shoulder blades, hands, feet, ribs, and pelvis, particularly around the shoulder, elbow, wrist, knee, and ankle joints. My height was affected, as was the shape of my arms (bow-shaped, my left arm is shorter than my right) and legs (my knees won’t bend all the way), with structural impairment to my left elbow and hand. I knew I was different to all my other friends, and with such low self-esteem I certainly felt that way. I hated going to school. I just wanted to seclude myself. As a consequence I was shy and introverted as a child. I wore long sleeve shirts and explained away the bow-like curvature of my left arm by faking how it had been broken. I loved sports, but was unable to participate like other kids my age, while almost nobody, except my mother, knew of the constant 24*7*365 daily pain, the cause of which medical practitioners in the 1970s and 1980s were at a loss to deduce.
The surgery started in earnest back in 1976 when I was 13 years old, the last procedure I underwent was earlier this month (June 2019). All told I have endured numerous operations in which at least 51 and a half of the more irritating bone tumours have been hacked, sawed, and chiseled off. The leading orthopedic surgeons in Ireland in the 1970s, 80s, and 90s, Messrs. Gerry “Gold Fingers” Brady, John Varian, and Jimmy Sheehan all had a go on me in both Saint Michael’s Private Hospital, in Dun Laoghaire, and the Mount Carmel Hospital, over in Churchtown (Dublin).
Most recently in November 2018 and April 2019 specialist orthopediac surgeons Philip Grieve and Hannan Mullett carried out surgical procedures at the Blackrock Clinic in South Dublin, while in June 2019 orthopediac surgeon Alan Laing also operated on me at the Blackrock Clinic.
In addition, over the years, I have also been referred to orthopedic consultants, ENT consultants, neurologists (medical interns in tow) and Traditional Chinese Medicine (TCM) practitioners in Liverpool (UK), Seoul (Korea), Singapore, Malaysia, Hong Kong and mainland China.
In 1990, following an operation to remove a benign tumour from the bone surface of my pelvis, I recall the surgeon’s reassuring words “That’s it, no more operations, the bony lumps wouldn’t grow again“, and that I could now get on with my life. I was 27 years old and I’d gone through more operations, physiotherapy, and recovery periods and overcome more obstacles than anyone should ever have to go through in their entire life. So get on with my life I certainly tried to do, and did.
However, despite leading as active a life as I could, the ever present twinge, spasm, ache, and clicking sound, which I guess only a person with HME can truly identify with, continued and in 2008 I was referred to neurologist Mr. Chris Pidgeon at Dublin‘s Beaumount Hospital. He advised surgery on compressed cervical vertabra caused by atypical spinal curvature on the basis that if I didn’t have such surgery sooner rather than laternerve damage and dysfunction would gradually lead to acute lack of sensation on the left side of my body. At around the same time one of China‘s leading ENT experts, Professor Pu Xing Kuan (JiangSu Province Hospital, Department of Oto-Rhino-Laryngology -卜行宽, 江苏省人民医院耳鼻咽喉科卜行宽主任医师) postulated a connection between the bony growths and troubling hearing and balance challenges.
New medical knowledge gleaned through advances in scientific research indicate that intermittent fatigue, poor coordination and short concentration span troublesI have always tried to come to grips with are neurological motor disorder symptoms associated with HME, and not just a figment of my imagination.
Roll on to 2018 / 2019 and the most recent operations have involved cubital tunnel surgery on my elbow, the removal of an exostosis embedded deep under my scapula, which the surgeon described as akin to “looking for a needle in a haystack“, and Hallux Valvus (Latin: deformed foot) surgery on my right foot. Following this latest operation, I am hoping the removal of two and a half exostoses and the insertion of a titanium implant will lead to pain-free mobility. Next up will be operations on my left foot, lower right arm and left hand, hopefully by all over by the end of 2019.
In terms of recovery: Truly amazed about the impact the surgery has had on my left elbow. Fully healed or me the outcome has been perfect. It is only two months since the surgery on my scapula, and why I feel the healing is slower various physiotherapists have noted that scapula / shoulder related surgery is notorious for the time it takes to fully heal.
Developments in medical science and technology over the past 10 years have been incredible, enabling surgeons to perform procedures that wouldn’t have been risked without such advancement.
By and large living with HME has been a silent battle marked by good and bad days. Sometimes I want to climb to the top of a mountain and scream. Most times I just grin and bear it. To everyone else I look normal. Nobody has a clue what I deal with on a daily basis. Unfortunately, while the bad days don’t define me, they are happening more often than I care to admit, affecting every aspect of my life, including my mobility and career. Now I would describe a good day as a day when pain is manageable, when the level of needling, throbbing, pain is at least two levels below my average, which according to the Universal Pain Assessment Tool chart posted below is at least Level 7.5. Consistent pain and related anxiety have also led to bouts of really bad depression. However, I always seem to pick myself up and move on.
In spite of the challenges that come with the territory, I would never let HME beat me, and so over the past year, after dithering way too long, I have been engaged with a truly amazing team of world-class shoulder, elbow, hand, wrist, foot, ankle, hip, knee, neurosurgery, neurophysiology consultants at the Blackrock Clinic (scroll down to ‘Orthopedic / Neurological Consultant / Surgeon HME Knowhow in Ireland’ for more information about specific consultants) pinpointing the most pressing HME-related problems via SPECT CT scams, MRIs, x-rays, and nerve conduction tests with the aim of correcting them now. No more delays on my part. A few more operations to go, but hopefully all done by the end of the year.
What is Hereditary Multiple Exostoses?
The condition was first alluded to in 1786 by John Hunter, the prominent, yet controversial, Scottish surgeon and anatomist, infamously known for taking possession of 2.31 metres tall Irish giant Charles Byrne’s corpse contrary to Byrne’s clear deathbed request. It would take a further 90 years for the term ‘multiple exostoses’ to first surface, as conceived in 1876 by the venerated German physician Rudolf Virchow. What is more, the first reference to Hereditary Multiple Exostoses (HME) in American medical literature only happened in 1915 when the Boston surgeon Albert Ehrenfried wrote of “Multiple cartilaginous exostoses—hereditary derforming chorodysplasia: A brief report on a little know (sic) disease”.
Hereditary Multiple Exostoses (HME) [one of the numerous synonymsalong with: Bessel-Hagen Syndrome;Chondral Osteogenic Dysplasia of Direction;Chondral Osteoma;Deforming Chondrodysplasia; Diaphyseal Aclasis (multiple hereditary); Dyschondroplasia;Exostosing Disease; Exostotic Dysplasia;Exostosis Multiplex;EXT; Hereditary Deforming Chondrodysplasia;Hereditary Multiple Osteochondromas;Multiple Cartilaginous Exostoses;Multiple Congenital Osteochondromata;Multiple Exostoses;Multiple Hereditary Exostoses (MHE); Multiple Hereditary Osteochondromatosis (MHO); Multiple Osseous Exostoses;Multiple Osteochondromas (MO – which is the term designated by the World Health Organisation (WHO)); Multiple Osteomatoses; Osteochondromatosis; and Osteogenic Disease] is a very rare bone disease in which multiple benign bony cartilage-capped outgrowths (or exostoses /osteochondromas) thatare atypical in size, position and number grow in areas of active bone development, or open growth plates, in children.
Regarding HME’s origins scientists have linked it with chromosomal mutations in three genes: EXT1, which maps to Chromosome 8q24.1; EXT2 which maps to Chromosome 11p13; and EXT3 which maps to the short arm of Chromosome 19 (though its precise location is still unclear). It seems the majority of HME cases have either HME EXT1 or HME EXT2 mutations, while a small proportion of HME cases are linked to the EXT3 gene.
Approximately 50% of people with HME are diagnosed by the time they are three years old
5% of newborns that carry an HME gene show some signs at birth
Though not present at birth, 96% of all cases with HME will show noticeable signs by the time they are 12 years old
Approximately 70% of people with HME have an exostosis or bone abnormality around the knee
Six is the number of exostoses the average person affected with HME will typically develop during his or her life
Most often affected are long tubular bones, while in 10% of cases the small bones of the hands and feet are also affected, the scapula only in 1% of patients. The spine is involved only in 2%, but it can lead to cord compression.
While HME currently has no cure, the good news is that a cure may not be far away!
HME NEWS FROM 2018
MHE Research Foundation in collaboration with Clementia Pharmaceuticals announced recruitment for the trialing in Australia, Belgium, Canada, France, Italy, Japan, Portugal, Spain, The Netherlands, Turkey, United Kingdom and United States ) of (once daily pill) the efficacy and safety ClementiaPalovarotene, as a potential treatment of HME in children.
Research moves toward the first drug treatment for Hereditary Multiple Exostoses
Prevalence and geographical reach
Curiously, the research also points to much higher prevalence rates amongst island populations with geographically restricted movement, such as Guam, which has about 100 HME cases per 100,000 people.
Be that as it may, taking for granted that Ballyhanna Man, and the two age-old skeletal remains discovered in Dublin, proved HME’s existence in Ireland over 600 years ago one would be inclined to think that given its hereditary nature the prevalence of HME among their future ascendants on the island would be relatively high. In actuality, secondary research and interactions with orthopaedic surgeons and online support groups undertaken by myself suggest there are about 120 cases on the island of Ireland (May, 2019).
Geographically, while the primary HME clusters are to be found in Europe, North America, and Australia, HME is a global bone disease with people impaired by the condition living in China, India, South East Asia, South America and Africa.
Chloe B tells the story behind the scars
An exotosis is a benign rounded or sharp bone growth at the metaphyseal areas of the long bones. Exostoses start, and continue, growing, for the duration of a child’s development around the growth centres of bones that are near the ends of the bones, which is why lumps tend to grow, or fuse, near the joints. When a person has achieved full skeletal growth, the exostoses are expected to stop growing, which is not to say their tenderness also stops. This last point is quite contentious, as previously less painful exostoses can become very tender with the wear and tear of age. Moreover, exostoses can also return to the same places from where lumps have been previously extracted, and they may be more painful. Many members of online HME support communities highlight increasingly chronic pain experienced in later life.
What is an Osteochondroma?
Chronic, not contagious
What complications are caused by HME?
HME can be particularly troublesome. Because the exostoses grow around areas of active bone growth, they disrupt the normal growth process, leading to defective growth that causes nerve compression, inequality of limb length and irritation of adjoining soft tissue, such as skin, nerves, tendons, muscles, and blood vessels. Such is their sensitivity, these cartilage-capped lumps can cause chronic pain, clicking sounds, and numbness until they are surgically removed. Accidentally bumping them against something solid can be particularly painful.
Exostoses that grow near the ends of long bones may limit the normal range of motion of the joints upon which they encroach. Consequently, people with HME may have a shorter stature than average, with studies of HME patients showing the final height in men typically averaging 170 cm (66 in), while the average height in women is about 160 cm (62 in). Moreover, differential rates of growth between a child’s legs or arms can result in disparities in leg or arm length sometimes reaching 2 cm (1 in) or more. Leg length disparity can result in hip pain and difficulties with walking caused by a slanting of the pelvis.
HME patients may also have bowed arms or legs. Often, the forearm will bow out, or the legs can grow to be “knock-kneed“. While function is usually fairly normal, the bowing can be very troublesome.
Another complication caused by HME is stiffness, particularly in the hands, elbows and hips usually because the lumps block their natural movement.
The most alarming potential HME complication is also one of the rarest, typically occurring after skeletal growth has finished. In less than 1% of cases the benign exostoses can become a cancerous tumor called Chondrosarcoma, aka ‘Sarcoma‘. Such Chondrosarcoma cases are usually in the 20’s to 50’s age range. Growth and soreness are two key warning signs that a benign tumor has become malignant. If a person with HME notices after they have stopped growingthat an exostosis is getting larger or painful he or she should consult their doctor right away. Chondrosarcoma while uncommon (arising in0.5% to 3% of HME patients) is still something people who have Hereditary Multiple Exostoses must know about. An unnoticed bone malignancy always presents a risk of metastasis (the spreading of cancerous cells elsewhere in the body), which is one of the most dangerous complications of any cancer (For more on Sarcoma check out this YouTube video explanation from Dr. Christopher R. Beauchamp, M.D., Orthopedic Oncology and Adult Reconstruction Surgery, Mayo Clinic ).
Hereditary Multiple Exostoses (HME) [Multiple Hereditary Exostoses (MHE), Hereditary Multiple Osteochondromas, Multiple Exostoses, Exostosis Multiplex, Multiple Osseous Exostoses, Multiple Cartilaginous Exostoses], or Diaphyseal aclasisis a condition that is passed by the genes of the affected parent to their children. If one parent has the condition, there is a 50% likelihood that any child could also develop Hereditary Multiple Exostoses (HME).
As is my own situation, in 10% to 20% of HME cases a person can develop multiple exostoses with no family history of HME. In medical terms this is referred to as a de novo or “spontaneous mutation” indicating a genetic problem arose in that person without being inherited from a parent. Moreover, my two brothers, who are both in their 60s, did not inherit this condition.
HME has a 96% penetrance, which means that if the disease is indeed transmitted to a child, he or she will have a 96% chance of actually manifesting the disease, and 4% chance of having the disease but never manifesting it.
While males who have the HME gene tend to exhibit more obvious and severe symptoms than females, and are therefore more likely to be diagnosed with HME, males and females are equally likely to inherit HME.
Straight talking exostoses boy Mikey spells it out in black and white
What are the chances of transmitting HME to your children?
A person with HME has a 50% chance of transmitting this condition to his or her children. Male and female are equally likely to be affected. In other words, if it is assumed that four children are produced, and one parent is a carrier and exhibits the disease, the statistical expectation is for two children to be normal and two children to inherit this disease. This does not mean that children will necessarily be affected; it does mean that each child has a 50:50 chance of inheriting the disorder.
Pre-Implantation Genetic Diagnosis: Karyomapping and MALBAC
For individuals with HME who are considering starting a family, recent scientific developments in pre-implantation genetic screening and diagnosis (PGS & PGD) and pre-natal diagnosis can detect the exostoses gene from embryo samples and help select normal embryos. [Note: For further information about PGS refer to the ‘Research’ section below].
In February 2015, confirming the significance of pre-implantation genetic diagnosis with respect to detecting the exostoses gene the Cork Fertility Centre , stated:
“We do provide PGD service for Multiple Exostoses patients based on Karyomapping technic, which can do the same job as MALBAC. Karyomapping can detect the exostoses gene from embryo samples and at the same time obtain the information of chromosome status. ” (Source: Cork Fertility Centre email to author of this blog piece, dated 15th February, 2015).
The Beacon CARE Fertility centre in Sandyford, Dublin, also provides pre-implantation genetic testing services.
HME NEWS FROM 2014
“Hereditary Multiple Exostoses patients can now expect their offspring to be free from their disorders”
Beijing (Peking) University, Sep.24, 2014: On September 19, 2014, the first in vitro fertilization (IVF) baby with pre-implantation genomic screening based on MALBAC was born in the Beijing University Third Hospital, Beijing, China. MALBAC is a newly developed whole genome amplification method, allowing for the precise selection of embryos in the IVF process when combined with next generation sequencing. This event brings the good news to patients with monogenic diseases around the world that they can now expect their off springs free from their disorders.
In this case, the husband suffers from Hereditary Multiple Exostoses, an autosomal dominant hereditary disorder, which is characterized by multiple bony spurs or lumps on the bones at an early age. There is a frame-shift point mutation at the EXT2 gene of this patient, which has a 50% chance of transmitting this disorder to his children. To avoid this risk, a normal embryo free from the husband’s disease allele was selected by Dr. Jie Qiao’s group at Beijing University Third Hospital using the MALBAC technique that was developed by Sunney Xie’s lab.
Total 18 embryos at blastocyst stage were obtained from the couple during IVF cycle, and a few cells were biopsied from each of the day 5 or day 6 embryo. Genomic DNAs of the obtained cells were amplified evenly and accurately with the MALBAC method for the whole genome sequencing analyses. Combined with the targeted PCR and next generation sequencing techniques, all the numerical and structural chromosome abnormalities and the mutated allele of the genetic disease were accurately detected with low depth sequencing data (0.1X). The team identified three embryos with neither the inherited mutated allele nor chromosome copy number abnormalities from these 18 embryos, and finally chose one healthy embryo to transfer back to the wife. The embryo implanted successfully, grew normally, and later the amniotic fluid cells from the baby were isolated and analyzed as free of aneuploidy and mutated allele. Now the baby was born successfully, with 4.03 kg of weight and 53 cm of length. Umbilical cord blood genome detection confirmed the baby is free of the mutated allele.
Pre-implantation genetic diagnosis (PGD) is a technique that helps selecting normal embryos to transfer into uterine using IVF. It is an early prenatal diagnosis technology to obtain a healthy offspring by avoiding the genetic diseases.
Currently, the widely used PGD technologies are fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (Array-CGH) and single-nucleotide polymorphism (SNP-array)… it has been highly desirable, but has not yet been reported to simultaneously detect monogenic point mutations and chromosome abnormalities. MALBAC allows for simultaneous circumvention of point mutations and chromosome abnormalities with high accuracy. Furthermore, the procedure developed by the team has used low depth sequencing, allowing low cost and fast PGD.
MALBAC, a powerful single cell whole genome amplification method, which was first developed and reported by Sunney Xie’s lab in 2012, is the key technique in this project. Since MALBAC use linear instead of exponential amplification, it is much more accurate and uniform than the traditional DOP-PCR and MDA methods. So MALBAC can be used to analyze the genomes of rare and limited materials. At the end of 2013, Sunney Xie’s lab cooperated with Jie Qiao’s team and Fuchou Tang’s lab and demonstrated the proof of principle of using MALBAC for PGD in IVF, which was published in Cell.
The project is done with the support from the Ministry of Science and Technology, Beijing Municipal Science and Technology Commission, the National Natural Science Foundation of China, and 985 project of Peking University. The project is accomplished under the cooperation of the three partners: Jie Qiao’s team in Peking University Third Hospital, Sunney Xie’s lab and Fuchou Tang’s lab in Biological dynamic Optical Imaging Center (BIOPIC) of Beijing University.
Ruby Page explains what it’s like to live with HME
Some people with HME never need any treatment. They learn to counterbalance the abnormality or reduced range of motion so they can perform as normally as possible. When abnormality does occur it often develops so slowly that the patient can adjust to it well, while others may require surgical treatment to provide relief.
Surgery (bear in mind modern medicine has really advanced with ongoing technological breakthroughs!), physiotherapy and pain management are currently the only options available to HME patients, and while success varies from patient to patient many continue to struggle with pain, fatigue and mobility problems throughout their lives.
It is not unusual for patients with Hereditary Multiple Exostoses (HME) [Multiple Hereditary Exostoses (MHE), Hereditary Multiple Osteochondromas, Multiple Exostoses, Exostosis Multiplex, Multiple Osseous Exostoses, Osteocartilaginous Exostoses, Multiple Cartilaginous Exostoses], or Diaphyseal aclasis to undergo numerous surgical procedures throughout their lives to remove painful or deforming exostoses, correct limb length discrepancies or improve range of motion.
HME Presentation by Dr. Dror Paley, Paley Limb Lengthening Institute, St. Mary’s Hospital, West Palm Beach, Florida
If an exostoses is painful, pressuring an important structure, visibly unsightly, or is easily knocked, it can be removed by surgical methods. Excision itself is usually a fairly straightforward procedure, some are removed without necessitating an overnight stay in hospital. Once removed, however, as previously mentioned, exostoses can reappear (about 20% – 50% of the time), although they are may not grow to the same extent as before.
When an exostosis causes a growth deformity, such as bowing, sometimes simply cutting off the lumps at an early stage will let the bone straighten itself out and adapt as the child grows. However, some bowing is so acute that not only must the lumps be removed, but also the bone must be straightened. This can be done either by cutting the bone, remodeling it and then holding it in place while it mends or, if the child is still developing, by altering the rate of growth on one side of the growth plate.
There are a number of options available and an orthopedic doctor should be able to advise accordingly.
Moses Ndiritu’s story – Every day gets harder
Managing the severe pain associated with HME can be very disheartening, and there are all sorts of opinions regarding treatment. Below are several different approaches to pain management, notwithstanding that fact that in distinguishing which pain medicine provides the most effective relief it is important for each HME patient (or parent / guardian in the case of children) to do their own research before any new treatments are commenced. While a proposed treatment may sound beneficial, there are also some potential negative side effects that a HME patient may suffer from. Always be aware of both the pros and cons of any treatment before deciding whether it is the right approach to controlling specific pain, and preferably use the therapy in a controlled environment.
1. Medical Marijuana?
While the MHE Research Foundation does not support the use of Medical Marijuana, HME is one of a defined number of conditions with symptoms or ailments that advocates claim can treated with Medical Marijuana. Stockbroker and HME patient Irvin Rosenfeld, from Fort Lauderdale, Florida, has been issued with 12 daily government-supplied marijuana cigarettes for more than 30 years. The longest surviving patient to be assigned to the federal medical marijuana, Mr. Rosenfield claims he would not be alive if he hadn’t been issued with marijuana cigarettes for the treatment of his HME condition.
For more on Irvin Rosenfeld (http://irvinrosenfeld.com/), refer to the YouTube video ‘Medical Marijuana – Multiple Exostoses (Irvin Rosenfeld)’ below.
In Canada, Saskatoon high school student Michael Wileniec says high-grade medical marijuana is the only drug that eases his chronic pain, noting in a January 2015 newspaper interview, he had already “…tried conventional prescription drugs, from Tylenol 3 to morphine, but didn’t like how they clouded his mind“.
For more about Michael Wileniec and his usage of Medical Marijuana to help alleviate HME related pain refer to:
Having lived in China for a number of years I have had the benefit of trying out traditional acupuncture, electroacupuncture, and tuina acupressure, the needle free alternative to acupuncture. These Traditional Chinese Medicine treatments are effective paint controls, although I found the relief to be short lived, meaning that once treatment concluded the soreness would soon return. For specific HME patient feedback regarding the effectiveness of such Traditional Chinese Medicine practices, including qigong read the “Comments” https://nialljoreilly.com/2012/04/28/hereditary-multiple-exostoses-ireland/#comments section located at the bottom of this post.
Learning to Love Myself and My Scars From Multiple Hereditary Exostoses
3. Omega-3 Krill Oil?
Having endured an agonising winter of 2013 / 2014, to the point where even a walk of 20 metres could be a harrowing exercise -the degree of tenderness contingent on the prevailing weather- my introduction to the benefits of Omega-3Krill Oil, which the Journal of Lipid Research claims is 48 times more potent than fish oil, was simply a business-driven fluke. Yet, while there are no research studies to back me up, I have found exceptional relief (reduced pain, inflammation, functional impairment, stiffness) since the summer of 2014 when I started taking Omega-3Krill Oil in capsule (500 mg per day) and more recently in syrup format. In fact, of late, since finishing the bottle of Omega-3Krill Oil (300 ml) syrup in late January (2015), once again I can now feel both bone and joint pain levels starting to give me a hard time.
The Omega-3 Krill Oil capsule and syrup products I used are from CleanMarine (http://www.cleanmarine.ie/), who also produce a Krill Oil syrup for kids.
Advocates of homeopathy for HME contend that surgical excision of exostoses does not remove the cause of HME, as it cannot guarantee further exostoses from forming. Homeopathists aim to treat the patient (not HME) by strengthening his/her immune system to remove the disease and prevent recurrence.
5. Tablets / Capsules
I am not a fan of tablets, but at home I do keep Solpadol Caplets handy. Unfortunately, these are codeine-based, so need a prescription for good reason. They have the effect of bring a Level 8 pain down to a more manageable Level 5 or 6.
For severe pain doctors have also prescribed OxyNorm and Tramadol, but these are really heavy pain-killers and I’d rather deal with the pain in my own way than have to take these for a prolonged period
HME NEWS FROM 2017
“Preclinical study demonstrates promising treatment for rare bone disease
Data supports clinical investigations of palovarotene to treat multiple hereditary exostoses”
La Jolla, Calif., November 20, 2017 – Researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) have led a preclinical study demonstrating that the drug palovarotene suppresses the formation of bony tumors (osteochondromas) in models of multiple hereditary exostoses (MHE). The research, published in the Journal of Bone and Mineral Research, is an important step toward an effective pharmacological treatment for MHE, a rare genetic condition that affects about 1 in 50,000 people worldwide.
MHE (also known as multiple osteochondromas, or MO) is an inherited genetic disorder in which multiple benign bone tumors covered with cartilage grow at active areas of bone growth. The condition is caused by mutations in two genes: EXT1 and EXT2. Individuals with these mutations develop painful, debilitating tumors, often repeatedly during their childhood and adolescence. Surgery and pain management are currently the only treatment options for MHE patients.
“Our study shows that palovarotene is a remarkably potent inhibitor of osteochondromas, says Yu Yamaguchi, M.D., Ph.D., professor at SBP. “In our mouse model of MHE, we were able to reduce bone tumors by more than 90 percent, which is a significant improvement over the previous drugs we have tested in the same mouse model.”
“Especially promising is that palovarotene has been tested for toxicity and side effects in humans and has been shown to be well tolerated,” says Yamaguchi. “This means that time line for getting the drug to the clinic for MHE may be shortened.”
Clementia Pharmaceuticals licensed palovarotene from Roche Pharmaceuticals, which previously investigated the compound as a possible treatment for chronic pulmonary disease and evaluated its safety in more than 800 healthy volunteers and patients. Clementia Pharmaceuticals is planning to initiate a Phase 2/3 clinical trial in 2018 for patients with MHE.
“This is first time we are seeing a clear path toward a therapy that will improve the lives of MHE patients and their families,” says Sarah Ziegler, vice-president of the MHE Research Foundation. “The long awaited first clinical trial for a drug to treat MHE is now a reality. This breakthrough comes after years of working with medical professionals and scientists like Dr. Yamaguchi to achieve something we have all been desperately striving for, for many years.”
Through gene mapping studies scientists, as previously noted, have linked HME with mutations in three genes: EXT1, which maps to Chromosome 8q24.1; EXT2 which maps to Chromosome 11p13; and EXT3 which maps to the short arm of Chromosome 19 (though its precise location is still unclear).
Continuing research of the HME genes will likely establish an accurate prevalence for each of the three gene types, thus providing greater insight into the growth of cells, which is really what HME is all about. With such rapid advances in science, particularly in terms of gene mapping, it not inconceivable that such as understanding will sooner rather than later provide the knowledge leading to a tangible treatment for HME.
Recently, Chinese scientists, supported by the Ministry of Science and Technology, have also started conducting extensive research into HME. One such research paper published in 2014 concluded that in China:
“HME starts earlier and becomes more severe and extensive with each successive generation in members of the pedigree analyzed”
[For more about HME in China refer to ‘10. Instances of Hereditary Multiple Exostoses (HME) in China, from 1990 – 2013′ in the research segment at the bottom of this blog.
As it stands, gene mapping can serve as a basis for testing children at risk with HME and the information gleaned from such testing will hopefully lead to the prevention of the development of exostoses and their associated complications. There is good reason for optimism: the day when our doctors are equipped to undertake such testing is near.
Multiple Hereditary Osteochondromatosis (MHO)* – Suzie’s Story
*Multiple Hereditary Osteochondromatosis is the official World Health Organisation term for HME / MHE
Osteochondroma… this is My story
HME and Autism / Asperger Syndrome Linkage?
Heparan Sulphate and MHE – Dr. Yu Yamaguchi. Many parents of children with MHE / HME / MHO frequently observe autism and Asperger Syndrome like social issues in their children
“….“The bumps themselves are not so much a problem, what tends to cause the issue in children or even in adults is if [the bumps] are causing deformity,” explains Dr. Carmen Brauer, an orthopediatric surgeon with the Alberta Children’s Hospital. “Bone lengthening in the upper extremity is fairly rare compared to the lower extremity, and here at the Alberta Children’s Hospital we hadn’t done any lengthening of the upper extremity,” Dr. Brauer says. A team was assembled to perform the first procedure on Dunbar last June. His bone was cut and a device was implanted to apply tension over time to help the bone to grow. “We slowly distract and the bone then heals under the tension we’re applying. By doing that we can lengthen the bone up to a millimeter a day,” Dr. Brauer explains…….” Source / read more and view the Video: http://globalnews.ca/news/907083/bone-lengthening-surgery-saves-calgary-boy-from-disability/
Dorsal Foot Exostosis
Dorsal foot exostosis is a bony growth on the dorsum (top) of the foot. It can occur where the first metatarsal joint meets the big toe, causing the toe to lose its ability to bend. This is also known as Hallux rigidus (inability to move the joint) or Hallux limitus (limited movement of the big toe). Acute or chronic pain on the top of the foot happens in the morning and as the day progresses, more so the longer a person is standing. Metatarsal Cuneiform Exostoses crop up in the midfoot area, where the first metatarsal shaft meets the cuneiform, while a forefoot version of Haglund’s Deformity is where the throat line of the shoe meeting the foot causes pressure and rubbing which results in the fleshy area behind the toes..
Is that a Bunion or an Exostosis protruding from your foot?
– “A large exostosis was the source of a bunion deformity in a 60-year-old woman. Its unusual clinical and radiographic features were suggestive of a bizarre parosteal osteochondromatous proliferation. However, histologic features were most consistent with a benign osteocartilaginous exostosis…..” Source / read more: http://www.ncbi.nlm.nih.gov/pubmed/11482512
Orthopaedic / Neurological Consultant / Surgeon HME Knowhow in Ireland
Unfortunately, GPs / HSE in Ireland have little or no knowledge of HME. Best to have a GP refer you to a consultant orthopedic surgeon specialising in the specific area that causes most discomfort. No one consultant will cover all areas affected by HME. I ended up doing the research myself and then asking the GP to contact the consultants I deemed applicable to my needs.
Below is what I would consider to be the best neuro / orthopaedic surgeon team in Ireland: Perfectionists, professional, friendly beside manner. They really listen.
These guys are very well grounded, I cannot rate them highly enough, they know the score and have the know-how when it comes to dealing with HME. Interestingly, they mentioned they tended to deal more with cases of single exostosis, and that multiple exostoses was still quite rare in Ireland.
Typically, the first consultant you engage with should take the lead in calling in other neuro / orthopaedic specialists either to verify a particular prognosis or to advise on specific areas beyond his area of expertise.
Mr. Hannan Mullett (Shoulder), Blackrock Clinic, Beaumont Hospital, Sports Surgery Clinic, Cappagh National Orthopedic Hospital
Mr. Philip P. Grieve (Elbow, Hand, and Wrist), Blackrock Clinic
Mr. Alan Liang (Foot and Ankle), Blackrock Clinic, Beacon Hospital
Mr. Fintan Doyle (Hip and knee), Blackrock Clinic
Mr. Eoin Fenton (Neurosurgery, Spine), Blackrock Clinic
Dr. Sean Connelly (Neurophysiology), Blackrock Clinic
Tip: Make sure you have health insurance. MRIs at Blackrock Clinic should be fully covered by VHI, but not CTs. CTs are fully covered by VHI at the Affidea clinics. For x-rays public hospitals have walk in services, which cost about €50.00, rather than €100.00 + in the private hospitals
Useful Support Resources for HMEers and their families
– Despite evidence of HME occurring in 4 ancient Irish skeletal remains (“Ballyhanna Man“) of only 16 ancient skeletal remains worldwide diagnosed with HME bone growth disorder, Ireland doesn’t have an official HME information support group, hence this blog.
National Center for Biotechnology Information (NCBI) http://www.ncbi.nlm.nih.gov/sites/ga?disorder=multiple%20hereditary%20exostoses – Up to date website with detailed information on Hereditary Multiple Exostoses (HME). Includes: * Links to introductory material about Multiple Hereditary Exostoses and genetics. * NCBI Book sections and chapters about Multiple Hereditary Exostoses and genetics. * Recent scientific articles about Multiple Hereditary Exostoses. * Links to resources for screening, genetic testing, and directories of specialists.
PAPER – Cervical spinal cord compression in hereditary multiple exostoses Abstract– Spinal cord compression is an extremely serious complication of hereditary multiple exostoses (HME). A case of HME with compression of the cervical spinal cord is reported. Complete recovery following surgery was achieved. A review of the relevant literature revealed 51 previous cases of HME with cord/cauda equina compression. Most patients were under 30 years of age with more men affected than women. The family history was positive in 60%. The cervical and thoracic areas were predominantly affected, with the symptoms usually developing slowly. Recovery following surgery is to be expected in the majority of cases. In patients with HME and suffering from neurological symptoms, the possibility of spinal cord compression should be considered. Prompt diagnosis and surgical excision provide the best prognosis. Source / read more: http://www.ncbi.nlm.nih.gov/pubmed/9006779
ONGOING RESEARCH – Call for participants – Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project.
PAPER (Chinese)- Ultrastructural features of hereditary multiple osteochondroma cartilage cap in children Abstract –目的观察儿童遗传性多发性骨软骨瘤（hereditary multiple exostoses, HME）软骨帽的超微结构，为儿童HME超微病理诊断提供可靠依据。方法实验组：切除18例HME患儿肋骨瘤体分离软骨帽；对照组：15例胸廓发育畸形患儿手术矫正切除的肋软骨；分别取其纵、横切面应用扫描电镜和透射电镜观察。结果对照组：冷冻断裂的软骨组织内见少量软骨细胞位于软骨陷窝内，软骨组织表面可见大量散乱、稀疏的胶原纤维；软骨细胞数量不多，细胞表面有少量短小的微绒毛，细胞核形状不规则，细胞质内可见到粗面内质网呈条索样分散在细胞质内，线粒体较小，糖原颗粒呈簇状分布。实验组：冷冻断裂的软骨组织内见大量不规则的软骨陷窝，每个软骨陷窝内均含有软骨细胞，细胞表面有丰富的细胞突起；软骨组织内见大量瘤样细胞增生，聚集分布，细胞核较大，细胞质内可见圆形或椭圆形的线粒体及扩张的粗面内质网；瘤细胞间可见毛细血管，其附近可见明显增多的软骨细胞，软骨细胞体积较对照组增大。结论儿童HME软骨帽的超微结构改变（细胞形态及细胞内部细胞器），不同于正常软骨细胞，可能与儿童HME的遗传、发病、发展、转归因素密切相关。 Source / read more: http://www.cjcep.com/oa/darticle.aspx?type=view&id=201302014
PAPER – Multiple osteochondromas in the archaeological record: a global review Abstract
…The paper undertakes the ﬁrst synthesis study of the 16 known cases of the condition that have been identiﬁed in the international palaeopathological record. It also includes information derived from two newly discovered cases of the disease in two adult male individuals recovered from the Medieval cemetery at Ballyhanna, Co. Donegal, Ireland. Source / read more: http://www.qub.ac.uk/sites/Ballyhanna/FileStore/Filetoupload,216459,en.pdf
7. PAPER – Hereditary Multiple Exostoses: A Current Understanding of Clinical and Genetic Advances…Recent advances in understanding the molecular and genetic basis of this condition not only offer hope for patients and families with HME, but also offer clues to the underlying basis for the formation of the human musculoskeletal system… Source / read more: http://upoj.org/site/files/v14/v14_09.pdf
“In medicine and (clinical) genetics preimplantation genetic diagnosis (PGD or PIGD) (also known as embryo screening) refers to procedures that are performed on embryos prior to implantation, sometimes even on oocytes prior to fertilization. PGD is considered another way to prenatal diagnosis. Its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) [Note: IVF costs around €4,000, with fertility drugs, if required, costing up to €3,000] to obtain oocytes or embryos for evaluation.
PGD is also now being performed in a disease called Hereditary multiple exostoses (MHE / MO / HME)..
The term preimplantation genetic screening (PGS) is used to denote procedures that do not look for a specific disease but use PGD techniques to identify embryos at risk. PGD is a poorly chosen phrase because, in medicine, to “diagnose” means to identify an illness or determine its cause. An oocyte or early-stage embryo has no symptoms of disease. They are not ill. Rather, they may have a genetic condition that could lead to disease. To “screen” means to test for anatomical, physiological, or genetic conditions in the absence of symptoms of disease. So both PGD and PGS should be referred to as types of embryo screening….” Source / read more: http://library.everyonehealthy.com/library/furthertest/In%20Vitro%20Fertilization%20With%20Preimplantation%20Genetic%20Diagnosis
9. NEW RESEARCH: How gene mutations lead to the abnormal bone growth that is Hereditary Multiple Exostoses (MHE)?
In humans, MHE is caused by a mutation in one of two genes, Ext1 or Ext2. Together, these genes encode an enzyme necessary to produce heparan sulfate—a long sugar chain that facilitates cell signals that direct bone cell growth and proliferation. But when these genes were inactivated in mice just as they are in human MHE patients, the mice failed to develop the symptoms of MHE. This had scientists scratching their heads.
Enter Dr. Yamaguchi and his colleagues, who took a different approach. Instead of knocking out the Ext1 gene in the whole mouse, they targeted the gene only in bone cells. Moreover, they deleted the gene in only a small fraction of these cells. Surprisingly, this minimalistic approach led to a mouse with all the physical manifestations of MHE, such as bony protrusions, short stature and other skeletal deformities.
The new mouse model answered some long-standing questions about MHE. Scientists had gone back and forth on whether the abnormal growths observed in MHE are true tumors or just malformations of the bone. In this study, the protrusions were made up of two cell types. A minority were mutant cells lacking Ext1, but, amazingly, most were normal bone cells. True tumors, in the strictest sense, arise from the proliferation of mutant cells only. Hence, MHE bone protrusions must result from a different – though still very serious – type of growth.
“I have been waiting 13 years for this breakthrough,” said Sarah Ziegler, vice president of The MHE Research Foundation, which has provided seed funding for Dr. Yamaguchi’s research. “My son had more than a 100 of these tumors and has gone through 15 surgeries. When your child has such a debilitating condition, and you know there’s nothing you can do, it’s petrifying. Now we have hope.”
While this study takes MHE research a giant step forward, more questions remain. For one, it is still unknown how a few mutant bone cells can convince normal cells to divide and proliferate abnormally. Researchers hope that this MHE model will help solve that mystery, as well as provide leads for new treatments.
“This new mouse system also provides a platform for screening potential drugs that inhibit bone growths in MHE,” Dr. Yamaguchi explained. “We are currently developing chemical inhibitors to block their formation.”
10. Instances of Hereditary Multiple Exostoses (HME) in China, from 1990 – 2013
“...Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical presentations, pathogenetic features and treatment strategies of HME in mainland China. We searched and reviewed the related cases published since 1990 by searching electronic databases, namely SinoMed database, Wanfang database, CNKI, Web of Science and PubMed as well as Google search engines. A total of 1051 cases of HME (male-to-female ratio 1.5:1) were investigated and the diagnosis was made in 83% before the age of 10 years. Approximately 96% patients had a family history. Long bones, ribs, scapula and pelvis were the frequently affected sites. Most patients were asymptomatic with multiple palpable masses. Common complications included angular deformities, impingement on neighbouring tissues and impaired articular function. Chondrosarcomas transformation occurred in 2% Chinese cases. Among the cases examined, about 18% had mutations in EXT1 and 28% in EXT2. Frameshift, nonsense and missense mutations represented the majority of HME-causing mutations. Diagnosis of HME was made based on the clinical presentations and radiological documentations. Most patients needed no treatment. Surgical treatment was often directed to remove symptomatic exostoses, particularly those of suspected malignancy degeneration, and correction of skeletal deformities. This study shows some variance from current literature regarding other ethnic populations and may provide valuable baseline assessment of the natural history of HME in mainland China.”
– Source: Guo XL, Deng Y, Liu HG, Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. J Huazhong Univ Sci Technolog Med Sci. 2014; 34(1):42-50 – See more at: http://www.cancerindex.org/geneweb//X0205.htm
11. The following links http://www.cancerindex.org/geneweb//X0205.htm provides a detailed overview of ongoing HME-related research worldwide. A lot of research is now being conducted on mainland China with conclusions (as per the attached) highlighting that:
– “HME starts earlier and becomes more severe and extensive with each successive generation in members of the pedigree analyzed. A splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations – See more at: http://www.cancerindex.org/geneweb//X0205.htm#sthash.JRl5abuL.dpuf“
12. Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments (June 2017)
“Hereditary multiple exostoses (HME) is a complex musculoskeletal pediatric disorder characterized by osteochondromas that form next to the growth plates of many skeletal elements, including long bones, ribs, and vertebrae. Due to its intricacies and unresolved issues, HME continues to pose major challenges to both clinicians and biomedical researchers. The purpose of this review is to describe and analyze recent advances in this field and point to possible targets and strategies for future biologically based therapeutic intervention.
Most HME cases are linked to loss-of-function mutations in EXT1 or EXT2 that encode glycosyltransferases responsible for heparan sulfate (HS) synthesis, leading to HS deficiency. Recent genomic inquiries have extended those findings but have yet to provide a definitive genotype-phenotype correlation. Clinical studies emphasize that in addition to the well-known skeletal problems caused by osteochondromas, HME patients can experience, and suffer from, other symptoms and health complications such as chronic pain and nerve impingement. Laboratory work has produced novel insights into alterations in cellular and molecular mechanisms instigated by HS deficiency and subtending onset and growth of osteochondroma and how such changes could be targeted toward therapeutic ends. HME is a rare and orphan disease and, as such, is being studied only by a handful of clinical and basic investigators. Despite this limitation, significant advances have been made in the last few years, and the future bodes well for deciphering more thoroughly its pathogenesis and, in turn, identifying the most effective treatment for osteochondroma prevention.”
Source / Author: https://www.ncbi.nlm.nih.gov/pubmed/284664532017 Translational Research Program in Pediatric Orthopaedics, Abramson Research Center, 902D, Division of Orthopaedic Surgery, Department of Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA. email@example.com.
No, I’m not being self-absorbed, and it’s not as if loads of locals around me are succumbing to nasty, mysterious illnesses (anywaythe local tabloids always tone down the numbers). Nevertheless, of late in conversations with Hangzhouers I’ve noticed three questions coming up again and again in a tone verging on alarm.
-What are we eating?
-What are we drinking?
-and…. What the hell are we breathing?
-and I’ll toss in another issue…. How can one of the two peaches I bought in the local fruit shop last Sunday turn from unripe into a liquefied mush within 36 hours of purchase? That toxic peach dissolved right before my eyes!
[Anecdote: A couple of weeks ago having enjoyed a second Kelloggs Nutri-Grain bar (courtesy of a Red-Cross parcel from my mother back home in Ireland, also filled with a critical supply of Barry’s Tea bags) I found myself checking out the nutritional label on the back of the wrapper. Clueless as to what I was reading, it suddenly dawned on me what I was reading wasn’t anything about food. Why did I just eat a load of preservatives which are of zero benefit to my body? Why indeed..]
If you want to participate in a live laboratory in which the food – [and air-we-breath] – chain(s) are “unintentionally” (yeah right! the expressions of innocence on the faces of those perpetrators regularly showcased to the media are as fake as the vile products they have been caught tainting) exposed to poisonous industrial chemicals with the potential to totally wreck our bodily processes, then all roads lead to China.
I’d never even heard of most of these chemicals by name. Sure I can hardly pronounce them:
Watermelons overdosing (explodingmelons of mass destruction) on forchlorfenuron growth hormones (May 2011)
Sports and fruit drinks laced with “particularly damaging to a young male’s fertility” dioctyl phthalate (imported from Taiwan, June 2011)
The “high blood pressure” yielding heavy metal cadmium in rice (February 2011); toxic “kidney failure” conducive melamine in milk (ongoing?)
Arsenic in soy sauce (ongoing?)
Copper in coffee (imported from Japan, 2008)
Bleach in mushrooms (December 2010)
The detergent borax in pork (added to make it resemble beef, April 2011)
and a whole host of fruit and vegetables smeared in deltamethrin, a synthetic insecticide, and preservatives with extremely long names!
Sure it only seems like yesterday when my buddy Umberto, who being Italian takes his cooking very seriously, watched a pot of fresh tomatoes turn white in a boiling confusion of red artificial colouring (2006).
Here in Hangzhou, affectionately known as “The Pond”, on account of its scenic West Lake, so far (and counting…)we have:
Lead in the air (a lot of it apparently, courtesy of the local battery manufacturing industry)
Phenol in the water (courtesy of a tanker driver whose load tipped into the water supply, June 2011)… anyway phenolonly causes severe eye damage, and sure what’s 25 tons of the stuff?
Spare a thought for those Harbiners up north whose Songhua River water supply was contaminated with at least 80 tons of the carcinogen Benzine (ok, so that was back in 2005 –‘water under the bridge’…so the local officials will tell you, long-term cancer risks notwithstanding). No doubt, these same faceless apparatchiks will point to Germany’s e-coli cucumbers and bean sprouts (last week), the UK’s Mad Cows (hmmm) and Ireland’s contaminated pig meat (2008) as symptomatic of a global problem not just a China problem – I’ve noticed they don’t really like talking about the “far worse than governments are revealing to the public” Fukushima nucleur disaster.
The Good News
Yes there is. Multiple the uproar each food scandal outside China receives by 1,000 times and you’ll get a sense of the disgust local Chinese feel about the continuing government incompetence and cynical manipulation of consumers by devious producers. China’s ‘You Are What You Eat’ sensitive generation is becoming increasingly aware of potential hazards of almost everything they eat and drink. What they see all around them are poor public hygiene surveillance and low standards of food quality all of which are cultivated by official incompetence, slapdash law enforcement, corruption and a corner-cutting culture among some businesses. It’s common knowledge that corrupt manufacturers and growers still use bribery and corruption to escape scrutiny.
Which brings me back to the bad news – that peach.
Eat The Peach? Certainly Not!
Sunday evening in the neighbourhood fruit store
A shop widely considered to trade in Hangzhou’s finest selection of fruits. A large store, open 24×7, all year round, I supposed its popularity was simply down to the fact you are given what you pay for: natural fruit, preservative and pesticide free, as in normal fruit, grown locally… generating visions of suppliers being meticulously selected by a resident ‘Man from Del Monte’, giving his nod of approval to the perfect pineapple or apple… Well not quite, clearly a figment of my imagination.
The shop has a large imported section, offering exotic fruits from all over the world to their bàofā hù (nouveau riche) patrons mad for anything deemed exotic, to know off their knowledge and sophistication. In my mind best to avoid this part of the shop for the same reason I’d avoid purchasing any ‘fresh’ consumable products from outside China, knowing the length it took to get from source to shelf (Kiwi from New Zealand, Apples from the USA? Bananas from South America? Hmm, imported fruit just looks too perfect and do we really believe they’re all air-freighted in?).
So the local fruit section it is.
Discerning shoppers everywhere like pawing their fruit for ripeness and the masses here are no different
However, in a big fruit shop that can make for a lot of grubby paws feeling up the goods: ‘The greener the fruit, the less manhandled its likely to be; let it ripen at home’, so the prevailing wisdom goes.
Two curvy, still hard, peaches caught my attention. I reckoned after being stored at an average room temperature of about 22 Celsius they’d be perfect to eat in three days. Back in the apartment, I left them on the table in their open plastic bag and went about my business, as in business trip to another city.
36 hours later I noticed a damp blot on the table cloth under the plastic bag and lifted it up. Liquid is seeping right through the plastic bag, and while one of the peaches looks exactly like it did when purchased, the other has simply dissolved into a gooey toxic mush.
And the upshot of this morbid tale about defiled peaches?
Yesterday, still incredulous, I recounted the story to the wife of Umberto, who, Umberto often complains, is overly preoccupied by a fear of preservatives, toxic chemicals, phony foods, and corrupt practices. Mother of three, Wu Bei wasn’t in the least bit surprised offering me the following prudent advice the next time I go fruit hunting in China:
“.. pick the fruit that’s looks somewhat chewed and scarred by insects, because if it’s good enough for them it’s good enough for you…. The most flawless delicious looking fruit is the most dangerous of all”.
A slightly more resigned Umberto quips that perhaps the best rule of thumb is to keep changing your poisons.
Seeing is believing…
Fast forward to March 2013
– Rivers of blood: the dead pigs rotting in China’s water supply
The reason why 16,000 pigs ended up in the Huangpu River was never fully explained by the authorities.
Fast forward to April 2013
– Bottled water scandal highlights food safety challenges
“The quality “..criteria Zhejiang’s Nongfu Spring uses are looser than national tap water standards in terms of the amount of arsenic and cadmium allowed in its products…. Nongfu Spring uses criteria that were set by the government of east China’s Zhejiang Province in 2005. National standards were upgraded in 2007…. Nongfu Spring was the only drinking water company to participate in drafting the Zhejiang provincial standards….. enterprises are only allowed to adopt local standards in exceptional cases when there are no relevant national standards….Nongfu Spring’s products do not meet the requirements for such an exception… China has formulated nearly 5,000 compulsory food safety criteria due to its excessive number of government departments….”
I was feeling really uptight, stressed. 52 hours on the go from Hangzhou to Dublin ..
Heavy snow, freezing temperatures. The busiest time of the year. Travel chaos. Amsterdam’s Schiphol Airport. Three cancelled flights, queues, queues and more queues, the rumour machine (“we could be here until Christmas Day“), the lottery for seats on the extra plane put on by Aer Lingus (the world’s worst airline), which didn’t depart on 11.30pm but rather 2.30am.
Dublin Airport. The 5.00 am arrival (“where are our bags?“). More rumours… the chaos, bags, except mine, discarded all over the baggage reclaim area… the lack of Aer Lingus / Dublin Airport authorities ownership of the problem… everyone else to blame except them…. freezing cold waiting for the bus… that was dawn 23rd December… The welcome sight of my brother at the door standing in his jocks… a foot of snow outside the house..
And so to this heartburn-like feeling over the past week… the usual Christmas excesses or? I also felt wasted, like I had never felt wasted. At the urging of my ever attentive mother I went to see the family doctor for a check up.
When Dr. K started checking the battery of the blood pressuremonitor I knew something was very wrong… He did the test again… “How do you really feel?” “Very tired, easy to nod off, mentally erratic, hard to concentrate, a little headache and strange white spots in my eyes”
A reading of 170/108. Such blood pressure readings fall within Stage 2Hypertension(readings of 160/110 and 180/110 usually indicate Stage 2 Hypertension), in which there is high risk of a heart-attack or a stroke.
There then followed the ‘Mother of all Colds’, which knocked me out for five days … Related? Hypertension? To much salt?
Almost two weeks later I am wearing a blood pressuremonitor taking readings on an hourly basis. From a 170/108 emergency, blood pressure readings are now in the low 130’s or high 120’s/88-82.. Absolutely normal.
So what was all that 170/108 about?
Life is not to be taken for granted. We can be here one second and the next second snuffed out. Hypertension and stress are invisible killers. I wouldn’t have been aware what the combination of symptoms were pointing to.
Wholesome home food and a relaxed mind are the keys to a healthy life…. Now, if only air-travel was less stressful!
I know what my 2011 priority will be… “Good health = long life”.
Last week, I found myself outside the Metropark Hotel in Wanchai, “Hotel Quarantine” on account of the one week government lockdown of guests and staff for the purpose of stopping the spread of Swine Flu/ H1N1 . Considering the hotel is adjacent to one of Hong Kong‘s busiest thoroughfares, Hennessy Road, the eeriness, like a scene from the film ‘28 Days‘ was compounded by all the uniforms of different protective clothing, the masked visages, the gloves, the ambulances and police vans. Inside guests fought boredom, celebrated birthdays, and made innocous signs to the media scrum as the countdown to the lifting of the quarantine approached single digits. Around the corner on Lockhart Road, a completely different scene. Wanchai’s bars were thronged with revellers… life goes on. But does it? Was this not a full dress rehearsal by the Hong Kong authorities for dealing with the consequences of a full pandemic?
Back in 2003 the Metropole Hotel (the sister hotel of the Metropark) in Kowloon was ground zero during the Severe Acute Respiratory Syndrome (SARS) crisis, a more sinister health scare, which fueled by a media frenzy had people initially convinced it was airborne. Standing across the street from the hotel, it wasn’t just the ‘double whammy’ of bad-luck incurred by the hotel owners I was contemplating, but rather how effective such measures by the authorities will be when a true pandemic materialises. Time for a Tamiflu innoculation.
So I was hungry, needed an emergency pit-stop, and what better place to refuel than at the local noodle shop I’ve been frequenting for over a year? Or so I thought.
I am eating my bowl of noodles, minding my own business, watching the cook stirring his noodle soup pot, and the pedestrian traffic outside on the street …. when all of a sudden yer man the cook has a sneezing fit, and then again and again…
Suddenly he has his fingers on his nose to defecate, but he is still sneezing, and it’s all over his hand…. he flips his hand and splat right into the soup the clingy mucous goes, following which he wipes his nose with the grubby sleeve of his white jacket and continues stirring his stock soup…
I mean how totally gross is that?!!!
…Oh and I didn’t finish my noodles.
Local Chinese advice (1):
“If he (the cook) brought the soup to a boil, then there’s nothing to worry about”
Local Chinese advice (2):
“…there is a Chinese saying: ‘It’s clean if you do not see it’…… Oh and never try to ask them to make a new dish for you . The cook probably would spit in the dish before remaking the dish and giving it back to you. He’ll get really upset as you give his boss a chance to punish him and he loses face. You could ask for a discount, much safer”.
Local foreigner advice (1):
“At least you can see the noodle guys preparing the food. Imagine what they would do if you couldn’t see them.
Local foreigner advice (2):
“I am always super-cool to the noodle guys at my local noodle shop… they all know me, and they always seem to show me a little extra love when I order a bowl. However, I have made a point of NOT paying close attention to how they knock out my order. Ignorance is bliss”.
Deluded, but nevertheless true this is pretty much the contribution of the man/woman on the street to the topic, and with a little bit of embellishment here and there before you know it gossip becomes fact. It is plain to see that many people here have little understanding of AIDS and how it is affecting China
Recently, a Chinese friend, in order to back up the above claim, stated that “70% of foreigners come to China for sex”, a fairly racist remark that is typical of the many anti-foreign remarks thrown about to divert attention from the true nature of China’s domestic AIDS problems. By ignoring the reality of AIDS in China she is making the AIDS situation here infinitely worse than it should be.
Here is a statistic, albeit one that is six years old. UNAIDS, the Joint United Nation Program on HIV/AIDS, indicates there were well over 1 million cases of AIDS at the end of 2001 and that this number will most likely mushroom to 10 million by 2010. That was six years ago. About 70% of those infected are peasants living in rural areas. Meanwhile, the government up in Beijing estimates that there are 840,000 HIV-positive people in the country and that 80,000 people have AIDS.
The main cause of AIDS appears to be the use of infected needles, mainly those shared by injection drug users, but also needles used in unhygienic ways during paid blood plasma collection, are the main cause of AIDS in the People’s Republic. In rural poorer area selling blood is a regular way to earn extra money, especially for drug users and prostitutes. Disastrously, many of the blood-collecting companies are unlicensed and against the law and their use of contaminated needles has been a major factor in spreading the disease, according to UNAIDS. Furthermore, those who sell blood to these companies are often in the most high-risk groups and have already been infected with HIV. Their blood is not tested, and is mixed into the blood pool and sold. Most of this occurs in poor, remote areas of People’s Republic (well away from the foreigner tourist trail) where there is less likely to be proper due diligence from authorities. Shuang Miao village in Henan was reported by Reuters, in 2004, to have an HIV infection incidence of 24% of the entire population, due to infected blood-collecting. Many local governments simply do not want to know or let others know about AIDS in their particular regions, as it might make them look bad. So information is suppressed. In addition, local officials worry that an honest assessment of prostitution, illegal plasma collection and drug abuse in their region would lead to their being accused of being inept.
As to other causes, the Shanghai Family Planning Institute believes no more than half of Chinese youngsters use condoms “or any precautions at all” during first-time sex. “Many youngsters believe their sex partners won’t have a sexually transmitted disease and abortion seems easy”.
Wow! It’s already over four years since the last Special Olympics World Summer Games were hosted Dublin. It was the largest sports event ever hosted in Ireland.
From 2nd to 11th October the 2007 Special Olympics World Summer Games will be hosted by Shanghai [http://www.2007specialolympics.com], the first of the three Olympic Games to be staged in China over the next 14 months, including the Summer Olympics and the Paralympic Games to be held next Summer in Beijing.
Unlike now, the days before the Special Olympics World Summer Games 2003 in Dublin were mired in controversy. At the time both Hong Kong and China were affected by the outbreak of the illness known as severe acute respiratory syndrome (SARS) and the Irish Government fearful of SARS spreading to Ireland decided to ban the Hong KongSpecial Olympics team from traveling to Ireland to compete at the Games. There was outrage in Hong Kong with protests outside the office of the Honorary Consul of Ireland. For me what was particular odious about this decision was the fact that business men and women were still allowed to freely travel to Ireland.
In Ireland on the radio, television and in the newspapers there was intense debate about the Irish Government’s decision. Living and working in Hong Kong there was a palpable sense of outage amongst the Irish community. Something had to be done. I decided to write two letters. The first which was published on 6th June, was to the Irish Examiner newspaper, while the second letter was to Chairman of the Organising Committee, Mr. Denis O’Brien (who was also an investor in the company I was working for at the time).
Irish Examiner Newpaper
Friday 6th June, 2003
“Hong Kong’s special athletes hit by a peculiar Irish infection”
I WRITE in response to the latest “final” June 4 decision of the Department of Health and Children’s expert group on SARS and the Special Olympics to maintain its ban on Hong Kong’s disabled athletes travelling to Ireland, thus depriving them of the chance to attend what likely would be the most thrilling event in their lives.
This illogical decision comes after a period of unprecedented high-level dialogue between senior Hong Kong government officials and Irish medical experts in which the Hong Kong side sought to articulate a clearer understanding of the situation and the extra efforts that it would make to guarantee the health of its athletes before departure.
It is almost two weeks since the World Health Organisation (WHO) announced the lifting of its travel advisory against Hong Kong, noting that SARS outbreaks had been contained, which is not much different to its observations regarding the status of Canada and mainland China.
In fact, all new SARS cases confirmed in Hong Kong over the past month (an average of fewer than five cases per day compared to upwards of 60 daily at the end of March) have occurred in people who were already identified as contacts of a person with SARS and under active surveillance by the local health authorities.
None of the Hong Kong Special Olympics athletes hoping to travel to Ireland has had contact with any SARS patients, or any suspected cases.
The WHO has highly commended Hong Kong’s transparency and aggressive Hong Kong Special Olympics procedures.
All close contacts of known SARS cases are quarantined at home.
In addition, their Hong Kong ID numbers are passed to the immigration department to ensure that they cannot leave the territory.
Since the implementation of these rigorous exit-screening procedures at border checkpoints, which also include mandatory temperature checking of all outbound travellers, there have been no reports of internationally exported cases of SARS from Hong Kong.
What is more, the US Centre for Disease Control and Prevention (CDC) has recommended against cancelling or postponing gatherings that will include people travelling to the US from areas with SARS, and the quarantine of persons arriving from SARS-affected areas who have shown no fever or respiratory symptoms.
As such, over the past fortnight Hong Kong exhibitors have been welcomed to the Las Vegas Jewellery Fair and the Cannes Film Festival as a result of the precautionary measures that the exhibitors had undertaken voluntarily.
And yet, it is against such transparency that Ireland still maintains its travel ban depriving athletes, some of whom have trained for up to eight years and whose team won 53 gold medals at the last Special Olympics, their chance to be the pride of Hong Kong.
Remarkably, no such travel ban has been imposed on other travellers from Hong Kong seeking entry to Ireland.
This ‘final’ decision appears not only irrational, but also hypocritical, given the latest guidelines conveniently lifting the travel ban on athletes from cities and regions where local transmission of SARS has not been reported, meaning that the Special Olympic Games will not be devoid of two of the largest participating teams, Canada and China.
It demonstrates that the Department of Health and Children has chosen not to follow the WHO‘s advice and made a decision without due regard to the precautionary measures that the Hong Kong Special Olympics Committee had proposed to take before their departure for the games.
The official flag presentation ceremony for the Hong Kong Special Olympics team is set to take place here on June 8, an event supported by The Hong Kong Gaelic Athletic Association, the St Patrick’s Society of Hong Kong, the Irish Business Forum and Enterprise Ireland.
It is the fervent wish of the Irish community in Hong Kong that the Irish government remove this unnecessary travel ban.
15, Mosque Street,
[Source: This story appeared in the printed version of the Irish Examiner Friday, June 06, 2003
Three days before the Opening Ceremony in Dublin, without prior notice,at 3.00 am I was awaken by the loud ringing sound of my telephone. On the other end of the line was Denis O’Brien excitedly describing the excellent news that the Irish Government had decided to lift its travel ban and that the special athletes from Hong Kong were free to travel to Ireland. Denis O’Brien also offered to send his private jet to collect the Hong Kong team from London.
The Special Olympics World Summer Games in Dublin were a wonderful success, and I have heard from several people who were lucky enough to attend, the Opening Ceremony or witness it television that one of the most emotional memories of the evening was the arrival in the Croke Park stadium of the Hong Kong team when the packed house of 80,000 people stood up to cheer them these very special athletes.
For me the abiding memory that will stay with me is being invited to represent the Irish Community of Hong Kong at the welcome home ceremony for the successful Hong Kong team. The sparkling smiles on the faces of the Hong Kong Special Olympics athletes, bedecked with gleaming gold and silver medals, will always stay in my mind.
“On June 19, I had the privilege of carrying the Olympic Torch – or Flame of Hope as it is called – and leading the Final Leg Torch Run team into Clonmel. Clonmel is a town of about 25,000 people and I would estimate that about half were on the streets to greet us. I have never seen so many Hong Kong flags in my life. They flew from the rooftops, from the buildings, from the churches and from the hands of thousands of people on the streets. And everyone was shouting Hong Kong! Hong Kong! at the tops of their voices.
“We ran into the town square where the Lord Mayor was present to greet us. I handed over the Flame of Hope. The Mayor took me to one side and told me that the Hong Kong team had not arrived. They were still in Macao under quarantine for SARS.
“To have run so far (over 200 miles) and not see the Hong Kong team was heartbreaking. I am not ashamed to say that I fell to my knees and wept.
“However, the Mayor told me that the Hong Kong team would be arriving in Dublin the following day and that a delegation from Clonmel would go to meet and welcome them. On the evening of June 21, we carried the Flame of Hope into Croke Park, Dublin, for the start of the games.
“The Special Olympics teams then marched into Croke Park in alphabetical order. I heard the master of ceremonies say “And now I see a particular team coming into the stadium. This is a team that we thought we would never see. But now they are here and we are so pleased to see them. Give a big, big welcome for Hong Kong!” About 85,000 people stood up and at the tops of their voices shouted: Hong Kong! Hong Kong! The noise was unbelievable! But it was obviously inspiring Ñ the Hong Kong Special Olympics team won 31 medals at this year’s games.
“I had a wonderful career with the Hong Kong Police Force and have had a wonderful life. But nothing in my experience is likely to top the emotion that I felt running for Hong Kong on the Law Enforcement Final Leg Torch Run.”
And so fast forward to late next week when a delegation of 1,000 Irish Special Olympians and their families will arrive in Shanghai to participate in the Special Olympics World Summer Games, 2007. Let the Games begin!
[Note: Special Olympics is an international non-profit organization dedicated to helping individuals with intellectual disabilities to become physically fit, productive and respected members of society through sports training and competition]
Note: My review of the Special Olympics World Summer Games, 2000, in Shanghai ‘Words matter: Mentally retarded or human gift? Looking back at the Special Olympics World Summer Games in Shanghai’ is posted here:
Constipation, clammy sweat, diarrhea, disorientation, dry cough, dry eyes, dry skin, ear ache, fatigue, headache, hemorrhoids, impaired coordination, impaired vision, impatience, insomnia, insecurity, irregular heartbeat, lightheadedness, loss of libido, low blood sugar, memory loss, nausea, reactions to drugs, sore throat, susceptibility to illness, and swollen feet. And this is just a partial list.
So at present my biological clock is a little screwed up, but not that screwed up! Can’t imagine having constipation and diarrhea, let alone all these symptoms of ‘jet lag’ at the same time….
Having departed overcrowded Dublin Airport Monday morning, and following a 14 hour flight (and +6 hours) time-zone eastwards and I find myself in Bangkok. Along the way the Etihad Airways aircraft touched down in the “Father of the Gazelle”, or Abu Dhabi, the capital of the United Arab Emirates, which lies on a T-shaped island jutting into the Persian Gulf in the Middle East. Considered by some to be the richest city in the world I was at least expecting an airport matching the accolade, having no time between flight connections to amble around the city.
What of the expression about first impressions counting? How true.
Banally, the enduring image of the satellite-shaped Abu Dhabi Airport, with its green and blue circular tiled jelly mould-like centre, was the lipstick counter in the Duty Free’s cosmetics department congested with Arab women who, dressed in an assortment traditional Jilbab, Burka, Abaya and Chador and trailing behind their white thobe dressed men folk, were loading up on multi-coloured lipsticks by the dozen.
The lipstick samples were, naturally, left untouched, it being considered ill-mannered for an Arab lady to expose her lips in public. Otherwise, from a people-watching perspective this was was just another congested, stuffy airport transit area featuring rude and abrupt officials acting like cowboys herding cattle into transportation enclosures. Suffice to say that on this particular evening I could have been in any airport in the Gulf States (previous characterless transit stops have included Sharjah, Bahrain, and Muscat). Dull. What’s the attraction of getting posted to this part of the world? Oh, yeah… Money!
Anyway that was characterless Abu Dhabi. I have digressed as I am now safely ensconced in a Bangkok hotel room.
What’s with the swollen feet, dehydration, disorientation and memory loss? Where am I? Where are the lipstick ladies?
Apparently, jet lag is easier to cope with flying in a westward direction compared to flying eastward. Science tells us that our body rhythm adapts more quickly when the day is artificially lengthened, which is what happens when we travel westwards. Personally I don’t buy this theory. Jet lag is cycle logical not psychological, and if you cycle over 6,000 miles across several time zones in one day, no matter the direction, you’re going to be extremely tired for a couple of days.
So it’s going to take a few days to adjust to being back in Asia, and where better to adjust than on a beach in Thailand. I’m hungry!
Those who knew JC, and who should have known better, didn’t pursue him, they left him alone. They said JC has gone away to Thailand with his buddy J, wait for another day, he’ll come home. That was in 1996. J never came home. I took charge of his funeral in Bangkok.
JC was all about reassuring the people who knew him “I’ll see you soon” … “I’m going away to find a place to stay, I’m going to dance on the Moon” … “One of these days when I change my ways, I’ll come back home”.
I have finally deciphered JC. His purpose of being in Thailand is to be a nobody in the way of a terminal alcoholic. Such a role is too stressful back in his utopia of origin up North. Blind to the fact that it is his addiction and its consequences that are making him miserable, JC falsely believes that thedrink is the only source of comfort and security available to him in a cruel, cruel world.
You see JC has been telling me for three years that he is perfectly aware he has a drinking problem, that he does not intend to let it get out of hand, and that he will be taking steps to control it. He has been adamant that he can and will deal with it by himself rather than seeking any kind of professional or support group help.
Yet, as an alcoholic JC still doesn’tunderstand the nature of his alcohol addiction and still supposes his recovery to be merely a matter of will power. He doesn’t have the courage to ask for help from others for what he feels he ought to be able to do by himself.
In Thailand JC always has a cheap bottle he can turn to, and he has been turning every day… Long hard drinking.
The bottle doesn’t take effect the way it used to and he’s hurting in old familiar ways. It has let him down and JC has gone beyond the point of no return. He has lost his self-esteem and just can’t find the will to stop.