Hereditary Multiple Exostoses (HME) and Me

The purpose of this dispatch (updated February, 2015) is to provide a focal point of support and information for family members and persons living in Ireland 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.
I  fully appreciate that some of us are rather difficult to get to open up on so personal a subject. I am not one of those, and I expect after reading the following post you will be inspired to add your own personal experiences, questions and feedback in the “Commentshttps://nialljoreilly.com/2012/04/28/hereditary-multiple-exostoses-ireland/#comments section located at the bottom of this post, which is divided into the following sections:
  • HME and Me
  • What is Hereditary Multiple Exostoses?
  • Bony lump?
  • What complications are caused by HME?
  • Congenital?
  • What are the chances of transmitting HME to your children?
    • Pre-Implantation Genetic Diagnosis (PGD): Karyomapping and MALBAC
  • Treatment
  • Pain relief?
    • Medical Marijuana
    • Traditional Chinese Medicine (TCM)
    • Omega-3 Krill Oil
  • Prognosis
  • HME in Ireland
    • Ballyhanna Man
  • HME and Autism / Asperger Syndrome linkage? 
  • HME and animals?
  • Bone-lengthening surgery
  • Dorsal Foot Exostosis
  • Is that a bunion or exostosis protruding from your foot?
  • Support resources for HME patients and their families
  • Research
  • Comments (54)

Hereditary Multiple Exostoses - HME and Me

HME and Me

I was about 9 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 the 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 form of my arms (bow-shaped, my left arm is shorter than my right) and legs (my knees won’t bend all the way), while I had structural damage 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. As a consequence I was a quiet child, not going out to ‘find friends’, and, not wanting to intrude on others, would rather wait for others to invite me. 

The surgery started in earnest when I was 13 years old and by the time I was 27 years old 48 of the more irritating lumps had been removed. The leading orthopedic surgeons in Ireland at the time 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), while I have been also 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 lump from 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 soreness, which I guess only a with 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 later nerve 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 a marked deterioration in my hearing.

New knowledge gleaned through advances in scientific research demonstrates that the socialisation, fatigue, poor coordination and short concentration span (which contributed to learning disabilities when I was in my teens — I probably set some sort of record as to the amount of times [and number of examination boards] I repeated ‘O’ Level Mathematics) issues I have always tried to come to grips with are neurological symptoms associated with HME, and not just a figment of my imagination.

What is Hereditary Multiple Exostoses?

Hereditary Multiple Exostoses (HME) [Multiple Hereditary Exostoses (MHE), Hereditary Multiple Osteochondromas (MO which is the term designated by the World Health Organisation (WHO)), Multiple Hereditary Osteochondromatosis (MHO), Multiple Exostoses, Exostosis Multiplex, Multiple Osseous ExostosesMultiple Cartilaginous Exostoses], or Diaphyseal aclasis, typically affects children whose growth plates open. First described in 1786 by US surgeon John Hunter, HME is a very rare bone condition in which multiple benign bony cartilage-capped lumps (or exostoses / osteochondromas), which are irregular in size, position and number, grow around areas of active bone growth.

Regarding its source scientists 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). 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.

  • Although difficult to be precise, given that people with a mild form of HME may remain undiagnosed, online academic sources point to a HME prevalence rate among more closely studied white populations of about 1 in 75,000 people. Interestingly, with respect to Ireland, much higher prevalence rates have been identified among populations with geographically restricted movement, such as islands like Guam, which has about 100 HME cases per 100,000 people. 
  • 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
  • 6 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.

HME has no cure.

Chloe B tells the story behind the scars

Bony Lump?

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. In fact, far from it. 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.

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, vascular compromise, 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 and numbness until they are surgically removed, and 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. 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 growing that an exostosis is getting larger or painful he or she should consult their doctor right away.  Chondrosarcoma while uncommon (arising in 0.5% 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 for metastasis (the spreading of cancerous cells elsewhere in the body), which is one of the most dangerous complications of any cancer (For more on Chondrosarcoma check out this YouTube video explanation from Dr. Christopher R. Beauchamp, M.D., Orthopedic Oncology and Adult Reconstruction Surgery, Mayo Clinic ).

Congenital?

Hereditary Multiple Exostoses (HME) [Multiple Hereditary Exostoses (MHE), Hereditary Multiple OsteochondromasMultiple Exostoses, Exostosis Multiplex, Multiple Osseous ExostosesMultiple Cartilaginous Exostoses], or Diaphyseal aclasis is 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 “spontaneous mutation” indicating a genetic problem arose in that person without being inherited from a parent.  Moreover, My two brothers who are both in the 50’s have shown no signs of inheriting 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 4 children are produced, and one parent is a carrier and exhibits the disease, the statistical expectation is for: 2 children normal and 2 children with the 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 Ireland the first pre-implantation genetic diagnosis pregnancy in late 2013 was hailed by the Cork Fertility Centre (www.corkfertilitycentre.com) as a “major breakthrough”. [Source: Irish Times 3rd November 2013 http://www.irishtimes.com/news/ireland/irish-news/first-pregnancy-in-ireland-using-new-screening-technique-1.1582427].

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).

FANTASTIC NEWS FROM SEPTEMBER 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.

Source: Peking University Third Hospital at http://english.pku.edu.cn/News_Events/News/Research/11626.htm.

Ruby Page explains what it’s like to live with HME

Treatment

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 OsteochondromasMultiple Exostoses, Exostosis Multiplex, Multiple Osseous ExostosesMultiple 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 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

Pain Relief

Managing the severe pain associated with HME can be very disheartening, and there are all sorts of opinions regarding treatment. Below are three 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:

http://www.thestarphoenix.com/health/Student+banned+from+using+medical+marijuana+school/10737686/story.html

2. Traditional Chinese Medicine?

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 “Commentshttps://nialljoreilly.com/2012/04/28/hereditary-multiple-exostoses-ireland/#comments section located at the bottom of this post.

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-3 Krill 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-3 Krill Oil in capsule (500 mg per day) and more recently in syrup format. In fact, of late, since finishing the bottle of Omega-3 Krill 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.

Shania’s HME

Prognosis

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 should 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, the 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.

In addition, 11. The link http://www.cancerindex.org/geneweb//X0205.htm in the research segment below provides a detailed overview of the latest HME-related research worldwide.]. 

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

HME in Ireland

Ballyhanna Man

He occupies pride of place in a specially constructed case at Donegal Museum in Letterkenny, in far-flung rugged North West Ireland, and is 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 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.

Remains of 800 year old Ballyshannon (Donegal, Ireland) Man (Skeleton 331) showing evidence of HME / Osteochondromas.

Remains of 800 year old Ballyshanna (Donegal, Ireland) Man (Skeleton 331) showing evidence of HME / Osteochondromas.

Research (which is ongoing) evidence so far indicates he was about 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 was very much disabled, and it’s 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.

[Source / read more: http://www.sceala.com/phpBB2/irish-forums-24992.html]

*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 at 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 given that 4 of the 16 known cases of HME are specific to Ireland, and a further 3 cases specific to England (the remaining 9 ancient cases of HME are located in Jordan, Zimbabwe, Peru, Sweden, Poland and Canada) what is the significance of living on an isolated island? Does this point to a higher prevalence of HME in the UK and Ireland? No prevalence rates for UK and Ireland are available online.

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 

HME and Animals?

St. Bernard dog http://onlinelibrary.wiley.com/doi/10.1111/vru.12066/abstract Domestic pig  http://vdi.sagepub.com/content/early/2013/06/27/1040638713495545.full

Bone Lengthening Surgery?

“….“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

Support Resources for HME patients and their families

USA / International
United Kingdom / International

This support group has a very instructive web site and hosts an international notice board.

Netherlands (Dutch and English)
  • Hereditaire Multiple Exostosen Lotgenotencontactgroep / HME-MO Vereniging Nederland http://www.hme-mo.nl/

– The Dutch HME-MO Association website provides an all encompassing platform which features an English section.

Australia (English)

– Hereditary Multiple Exostoses (HME) support in Australia.

France / Belgium (French)

– This support group offers support for almost 400 families in France (and some also from Belgium)

Germany (German)

– This support group offers a German translation of The MHE and Me Handbook

Ireland
  • Hereditary Multiple Exostoses (HME) and Me http://wp.me/p15Yzr-MrDespite 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 HME information support group, hence this blog.

Research

  1. MHE Research Foundation http://www.mheresearchfoundation.org/ –  Dedicated to researching for the cure to Hereditary Multiple Exostoses / Multiple Osteochondroma.
  2. National Center for Biotechnology Information (NCBIhttp://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.
  3. 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
  4. ONGOING RESEARCH – Call for participants – Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project.

    Source / read more http://clinicaltrials.gov/show/NCT00474331 

  5. 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
  6. 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 systemSource / read more: http://upoj.org/site/files/v14/v14_09.pdf

8. INFORMATION: Preimplantation genetic screening (PGS)

“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.”

Source / read more: http://phys.org/news194606781.html

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

Blog Sources / References: Google, Yahoo

57 Comments

Filed under 2012, 2014, 2015, Adversity, Character, Health, Hereditary Multiple Exostoses

57 responses to “Hereditary Multiple Exostoses (HME) and Me

  1. “…My family is engulfed with Multiple Hereditary Exostoses (MHE). The disease has affected my grandfather, mother, uncle, cousins, brother, nieces, nephews, daughters and grandson. It is a way of life for us – like being born Italian or Catholic.

    MHE is a genetic bone disorder in which benign, cartilage-capped tumors (Exostoses or Osteochondromas) grow from the growth plate of long bones or from the surface of flat bones throughout the body. For some patients, Exostoses can cause numerous problems including: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis, and an increased risk of developing Chondrosarcoma. MHE patients have a 50% chance of passing the disorder on to their children.

    For me, I have adapted to become a successful professional woman, mother of two, grandmother, 26 years of sobriety, cancer twice from the cartilage of MHE (Chondrosarcoma) and most of all a very grateful and giving person. God has placed the right people in my life at the right time. I have learned to rise one step ahead of my obstacles and to keep on going.

    Although MHE has left me with many disabilities, I have experienced many more opportunities. I continue to suffer, but no suffering has ever been too big to overcome. My hope is for research to develop a way to block this gene from being passed to our children. We keep hope that awareness will help fund research and new ways to help reconstruct our limbs to normal functions.

    Marlene T …”

  2. Hello! I’m Chloe. I have Multiple Hereditary Exostoses, but it’s easier to call it MHE. I don’t like the tumors because of the pain I get.

    I also have a twin sister called Breanna. I was born in 1997 and now I’m nine years old. I go to dance. I go to vspa. It is very nice there.

    I was afraid that mine was the only family who has MHE, but we’re not! I am happy I get to talk to all of you. I never had a friend that had a bone tumor disease.

    I asked the Bumpy Bone Club to write a book about tumors for kids. They thought that was a great idea, and they’re going to ask me and all of you to help write it! I’m reallly excited about that!

    I’d really like to have some penpals. You can email me at blubird97@yahoo.com.

  3. Toe Question-
    “I know this may be a dumb question, but what is the MHE toe problem everybody keeps referring to? My toes are normal, am I just lucky or something?? Michelle…”

  4. Toe Question
    “The toe next to the big one is a little shorter than it should be on both feets, and one toe (on left foot) is crooked.

    No pain, no problems, except visually……

    Sven-Erik

  5. “..As a 17 year old girl I find it very hard to be different from other people. I’m strong enough to be my own person mentally, but it’s tough to be physically different. My fingers are short, I’m shorter than I should be. On an unusual note, the way my fingers grew on my left hand it looks as though what should be the third and fourth fingers were switched…any one else with something that freaky?? What has been the worst is what this disease has done to my ego and self confidence. In the beginning of high school (I’ll be a senior in the fall) you learn that being different is not all right, and therefore not attractive. Maybe I’m lucky that I go to a large high school but I eventually found my niche (theater) and have made a group of solid friends through that. It really wasn’t until last January or so where things started to get bad for me and I found I needed support that wasn’t and couldn’t get from my friends and family. It seemed like all my joints were hurting at the same time. It didn’t make sense to take any out because there were so many others that hurt. My doctor noticed my fatigue and referred me to a therapist, where I was diagnosed with depression.

    ..it’s been a great feeling of knowing that I’m not alone. That I’m not the only one with bizarre deformities and trouble running. It’s comforting to know. Since I’ve come in contact with others with this disease I’ve been doing a lot better emotionally. It is okay to be different. Turns out people kinda think it’s cool that I have a toe without any bone in it.

    If there’s a question that I have to ask it’s this, “Anyone else out there with the psychological problems based off of MHE too?”

    Thank you for listening,

    Tina”

  6. “My family is engulfed with Multiple Hereditary Exostoses (MHE). The disease has affected my grandfather, mother, uncle, cousins, brother, nieces, nephews, daughters and grandson. It is a way of life for us – like being born Italian or Catholic.

    MHE is a genetic bone disorder in which benign, cartilage-capped tumors (Exostoses or Osteochondromas) grow from the growth plate of long bones or from the surface of flat bones throughout the body. For some patients, Exostoses can cause numerous problems including: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis, and an increased risk of developing Chondrosarcoma. MHE patients have a 50% chance of passing the disorder on to their children.

    For me, I have adapted to become a successful professional woman, mother of two, grandmother, 26 years of sobriety, cancer twice from the cartilage of MHE (Chondrosarcoma) and most of all a very grateful and giving person. God has placed the right people in my life at the right time. I have learned to rise one step ahead of my obstacles and to keep on going.

    Although MHE has left me with many disabilities, I have experienced many more opportunities. I continue to suffer, but no suffering has ever been too big to overcome. My hope is for research to develop a way to block this gene from being passed to our children. We keep hope that awareness will help fund research and new ways to help reconstruct our limbs to normal functions.

    I have happiness, joy and serenity. Who would want more?

    Marlene T”

    • “I suffer from an aggressive form of the condition and have had 30+ procedures in the last ten years. The growths have continued past the normal growth span of age. I’m glad you have found strength in your condition. For myself, it has led to unrivaled determination to succeed and make good the investment and time people have put into me.

      I do however struggle with the real choices people make of continuing the trauma of the condition and passing it on to another by having children, without taking the proper precautions made available by modern medicine. I find it wholly selfish and irresponsible to choose to risk the 50% chance, when through isolation of the faulty gene and embryonic screening is available.

      James P”

      • “Hi James. I appreciate your candidness and want you to know that I find you inspiring in that through all that you have been through, you are still thinking of others. I understand your struggle with making choices to have more children. What I have found to be the most difficult aspect of my life, especially that of a parent with child who suffers from rare disease, is making appropriate choices for myself, my son and my family as a whole. Sometimes, my choices are selfish in nature, and sometimes selfless. There are times that I wish I would have had more strength or better knowledge for which to help me with my choices – but, for the most part – I believe that “the choices we make, are the choices we live with”. Fortunately, my choices have helped me grow as an individual. James, I’m thinking of you and all that you have endured and wish nothing but some relief from what you are suffering. All my best, Heather”

    • “Thank you for sharing your story. It helps us all to bond and feel like we are not alone on this journey”

  7. Hello Everyone,
    Permit me to introduce myself. I am Elizabeth. I have MHE as do a other members of my family. I was born … from a long line of
    Borden’s who seem to be one of the major progenitors of MHE. They were from Pennsylvania and New England orginally. …I cannot express my happiness in finding others. My relief was so great I cried. (Excuse me, please, I get a bit emotional) I noticed some common threads we all seem to experience to one degree or another. I have often asked doctors if these were common symptoms of MHE but was told no, or that they didn’t know. Pain, muscle weakness or tiredness, etc., depression or psychological problems related to having the affliction all seem to be inter-related. I know that some forms of depression are genetic and I wonder if it is tied in the the MHE genetic link, as I have had to combat depression all my life along with the MHE and Chondrosarcoma. (Yes, I am one of those few rare ones.) It has been rough, but I am still here with a smile on my face and I wouldn’t trade who I am. I am so
    incredibly grateful that this MHE site is here for us to share our common bond. I spent my entire life searching for answers. It was often a struggle with many unanswered questions. Now, information is more available. Please do visit my website, which tells a little bit more about some of my family’s experiences.

    Hope to get to know everyone a lot better.
    Elizabeth

  8. Everyone out there with one arm shorter than the other…

    Do you have a wrist bone on the shorter arm? My left arm is 2 inches shorther than the right, and there is no wrist bone on my left. I remember years ago when I went to a genetist (spelling?) that they said this was quite common with MHE. Just wondering if they were right.

    Welcome to all the new comers. You will find this sight very helpful!

    On the shorts issue…I have always worn shorts. When people ask me what in the world happened to my legs, I always tell them the truth and then tell them that I am very proud of my scars because without them, I would not be walking.

    Jolene

    • Kim

      Missing at least the triquetral bone in the wrist of the left arm which is bowed. About 3 inches shorter than the right and some functionality issues going on in the elbow.

      Incidentally, I inherited HME from my father who was African-American. He had an interest in genealogy but we were never able to get very far back. Now, I see from this site that our ancestors

      were likely from the area of modern day Zimbabwe as that is apparently the HME hotspot of sub-Saharan Africa in prehistoric Times. Who knew? So score one for rare genetic diseases, I guess.

      Kim
      Cleveland, Ohio USA

  9. Hello,

    My name is Anita, I’m 20 years old and have MHE. I am 6 months pregnant and am scared as my doctor doesn’t know whether or not I can give natural childbirth or how MHE will affect my later pregnancy. My doctor (or any doctor in my area, for that matter) has now idea what MHE is. I would really appreciate correspondance from anyone, especially those with MHE who have given birth.

    Thank you!!

  10. ‘Dealing with life, one gimp at a time!’
    HI! I’m MLSanders and I create disability awareness through public and motivational discourses. Why me?

    I’m just a little different than most. I have Multiple Hereditary Exostoses. Or should I say I had Multiple Hereditary Exostoses? Or should I say I have, or had, Hereditary Multiple Exostoses. However you want to describe what I have, or had, I’m pushing 6 decades of simply enjoying the effects and after effects and this great experience. It’s what and how I’ve dealt with this great experience, One Gimp At A Time, that most will not believe.

    Sadly, there are a lot of people in this world who daily deal with some sort of physical, mental, or emotional inconvenience.

    For myself, I’ve enjoyed being poked, prodded, stuck, thumped, jabbed, in-serted, un-serted, cut on, cut off, cut up, stitched up, sewn up, wrapped up, cast up, cat-scanned, dog-scanned (not really, but I have had dogs stare at me a lot), x-rayed, and nuked up. All starting at the ripe old age of 2.

    Those who don’t enjoy my type of inconvenience miss out on the gimp, and the joy of the associated bone and muscle pain. They miss out on the excitement of trying to reach their head. They miss out on the shear delight of dropping something and the creativeness of trying to pick it up. They are deprived of the wonders associated with sitting down and getting up. My jealousy is their ability to reach places and to scratch that which I can only dream of.

    Everyday I wake up breathing is a good day. The pain reminds me I’m alive and it always feel better when it quits hurting.

    I’ve been able deal with life – One Gimp At A Time as though my ‘Handi Is Not Capped”. I’ve become a husband, father, owner and manager of multiple businesses, musician, teacher, and counselor. I’ve become MLSanders, S.A.M; S.A.G. (Short Arm Man; Short Arm Gimp).’

  11. G’day fair people, I come with a question and a tale; I’ll get to the point, I have hereditary multiple exostoses and if you google that, you might say that my passion for becoming a re-enactor/History teacher/Experimental archaeologist is doomed, but I would disagree.
    basically, if one looks at my x-rays, my knees look like birdcages of bone, my ankles lack any substance, my wrists are filled with spurs and I have a least one golfball sized bump that looks like a mushroom sprouting from my limbs on every limb. My right arm used to be bent like, and I kid you not, a banana but that was fixed with eight months in an ilizarov external fixator at the cost of not being able to turn my wrist to the left at all (a small price).
    personally, I can still walk, talk, think, use my arms and communicate with people, so in my view I’m not really disabled. But by the gods, I’ll be damned if I’m going to let my condition stop me from achieving my dream job! Broken bones mean nothing if one breaks them doing something one loves! Haha!
    Now the question; does anyone else have a condition that other people may perceive to be disabling or at the least impairing normally, let alone re-enacting, be it mental or physical? Do you have a personal limit as to what you know you can do?

    Sam.

  12. “..Sometimes it can be hard living with any type of disease, some more so than others. I am writing this content in hopes that this short article will reach out to those who are much like myself, so that one may never feel alone! I too have gone through the repeated doctor visits and have had surgery on my spine and knee due to this disorder. Some people do go through many more surgeries during their lifetime.
    I have a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, or exostoses. The name of this disorder is Hereditary Multiple Exostoses (HME). ……

    Source / read more: http://voices.yahoo.com/are-dealing-bone-disease-too-682718.html?cat=70

  13. Scamper502

    Hi
    I was just diagnosed (at 50) with HME and was told I needed to find a doctor who deals with HME. The Orthopedic surgeon who diagnosed me doesn’t want to treat me. I was wondering what type of Orthopedic surgeon handles this disorder? and also if any one knows of a doctor that deals with this disorder in adults in the Chicago area.?

    Thanks J.

  14. Hi our 20mth old son was diagnosed back in november and was put down as spontaneous, we have now found out that our 8yr old daughter suffers from HME also, myself and my husband do not belkieve we are sufferers has anyone had a similar case to us? Thanks

  15. Shelly R.

    Hi.
    I’ve had a lot going on in my life. I’m divorced now, a single mom with three kids. My oldest (Devon) just went off to college last month. My daughter Jordan, the one of my three kids who inherited MHE from me, will be in the fifth grade this year, and my other son will be a sophomore in high school.

    I have recently started having problems with my right ankle, and I know that I will soon need surgery, but I am only working part time, so I have no insurance. I make just a little too much money (sad, because I only get minimum wage) to qualify for a medical card in Kentucky. I have been searching to find a doctor who will even consent to see me without insurance or without full payment up front, and I am not having any luck.

    I am extremely frustrated with the whole situation. I don’t want to quit my job just to get insurance, but I know if this is left untreated that the pain is only going to get worse. I live in Western Kentucky, in Henderson. Anybody out there know where I can get help?

    Shelly R

    • H Shelly,
      I can well understand your frustration. I face a same issue here in Ireland. Was told last year by my health insurance provider that they would only cover surgery if I have already paid in 5 years of monthly insurance contributions. I would imagine and hope that MHE Coalition in the USA would be able to provide positive advice and assistance to you.
      N

  16. Trying to understand MHE
    I was wondering if there is any connection between TMJ (Temporomandibular Joint Disorder) and MHE. Lately I have been having a lot of trouble with my TM joint; jaw locking, face pain, ear pain, and headaches which is getting worse. Although this (TMJ) isn’t new, MHE is (only beeing diagnosed a few years ago (in my late 40s). As a kid, doctors told my parents that nothing was wrong, that the pain was all in my head. Once they diagnosed MHE, I thought my life would get better with less pain, but so far I haven’t been able to do this. I was also wondering is PT helps to lower joint pain? I have a lot of pain in my knee that has gotten worse after hip survey.

  17. Trying to understand MHE

    I’ve had this condition diagnosed since I was 3 yrs. old, and my parents and I were always told, “don’t worry, once you stop growing you won’t have any more problems…” well unfortunately that’s not true as I continue to have problems – at the tender age of 56… I have often wondered if there was a correlation between TMJ pain and MHE. I think the correlation (which doesn’t necessarily mean causation) is the fact that with MHE one tends to be more susceptible to early onset arthritis. I do know it is generally considered rare for there to be spurs at the TMJ area as they usually grow on the long bones – i.e. tibia, fibula, humorous, radius, metatarsals and metacarpal bones. That doesn’t mean that spurs can’t or won’t grow there – it is considered very rare. That being said, the best way to get the TMJ diagnosed is to go to your dentist and or orthopedic surgeon. I don’t know what the treatment is for that, or if there even is any
    treatment. That you’ll have to inquire about.

    As far as PT is concerned, my own personal recommendation would be LOW IMPACT exercises – generally water aerobics qualify for that. You can move your joints, “walk” and experience the resistance of the water against your muscles without putting any weight or strain on them. The best place for water aerobics classes would be at the local 24 hour Fitness Gyms, or if there is one available near you, an American Arthritis Society pool or an Easter Seals pool.

    Carol Kent, LVN
    Antelope, CA

  18. Trying to understand MHE

    So sorry to hear you are having so much trouble. I know nothing of the TMJ
    but I do know that low impact exercises do help my joints. It hurts at
    first but gets better quickly. I found that the more active I am the
    better. Good luck

  19. Trying to understand MHE

    Hello– One of the more frustrating things about MHE is that while many people seem to have lots of different types of problems, there is little medical consensus on how MHE contributes to these other sorts of disorders.
    It seems reasonable to me that if you have a skeletal disorder then this might either have a direct impact on your TMJ or on how your muscles work in conjunction with this particular joint. Indeed, while I do not know the percentages of people impacted by TMJ in the general population, it does seem to be a common complaint amongst MHEers. (Of course, what do I know??? I am not a doctor.). While I have never personally been diagnosed with TMJ, I have had extensive surgery in this area– to correct a malocclusion and also because I did have an osteochondroma. My face is much more comfortable as a result of this procedure and so maybe I did have TMJ symptoms.

    As for physical fitness. I think that it is better for over all health and for bones in particular to be in good physical condition. I do not understand these people who wear pedometers and say that they are only going to take a hundred steps a day– to me that is purely ludicrous. I started training in my mid twenties because I wanted to give myself a bit of an edge and was frustrated by the way my body felt and because I was unable to keep up with my peers. While there are lots of things that I still can not do, I am certainly better off because having a good muscle mass does help to counteract some of the problems associated with MHE and also helps you to recover more quickly from surgeries and injuries. My advice would be to talk to your physical therapist and a sports medicine doctor about how to integrate safe exercise into your day. Just because something is right for one person, does not mean that it is right for you.

    I wish you well.
    Christina

  20. Trying to understand MHE

    I was diagnosed with MHE when I was four years old. I am now 35 years old and I have had TMJ issues since I was approximately 10 years old. I wear a hard mouth piece at night to help alleviate the pain and stress in my jaw. I also try to avoid hard foods, chewing gum, and clenching my teeth. I have seen an oral surgeon to help manage TMJ symptoms and I was advised that minimally invasive “therapies” are best.

    Fortunately, I have not had any tumors in my face or skull. However, I do have one around the bones at the bottom of my neck (I do not know the name of said bones). I am convinced that the tumor causes neck and ear pain.

    Furthermore, I was told that my tumors would no longer be a problem once I stopped growing – which was not the case! I’m wondering if maybe that notion is an outdated school of thought.

    Presently, my orthopedic oncologist has given me no resistance when I complain of pain. His attitude is if I am hurting then I have a legitimate problem. I thought for years that the medical professionals who treated me thought I was a hypochondriac. I felt relieved when my new doctor validated my concerns.

    Melia

    Sent from my iPhone

  21. Trying to understand MHE

    What does your dr give you for pain? I currently take 120 mg of Cymbalta. The pain comes & goes still.

  22. Trying to understand MHE

    I have had MHE since birth. First surgery was before 1yr old and I’m 44 now. I have 3 ribs missing over my heart. Too many other surgeries to really count. I too was always told that once I quit growing the bones will too. Hate to tell them but they were wrong. I need more surgeries now but I cant afford to be off work to have them done. I have pretty much learned to live with pain. I hope you can find relief from the pain.

  23. Trying to understand MHE
    I only take over-the-counter medicine unless I’ve recently had surgery. Fortunately, I’ve been able to control my pain with Advil, hot and cold compresses, and sports gel (ex: Icy Hot). I also try to wear shoes with good support and I have an ankle brave that I sometimes wear. My doctor treats my persistent pain with surgery.

    I’m rarely pain free, but I’m extremely blessed by having what seems to be only a fraction of the pain that many of the people on this forum experience.

    Melia

    Sent from my iPhone

  24. Does the pain ever end
    I am now 29 I have had over 35+ surgeries, still have way to many bone tumors. They also said they would stop growing when I stopped. They didn’t, the ones that were removed either grew back or mirrored themselves on the other side of my body. I have one spot on my leg below my knee that had a tumor and it kills me. I have had all sort of injections even have artificial cartilage injections. I do not know what to do to make the pain go away. Ice and over the counter pain meds just don’t work anymore. Does anyone else seem to have constant pain. I am sick of calling the doctor and getting xrays and nothing happens. I need someone to talk to that can relate.

    Thanks

    J

    • Does the pain ever end
      Hey J it’s M send me a request on Facebook it’s M*** K** or under my email proudonde4lige@… I compeletly understand what your going through I’ve been through 23 surgies myself and just got of being in the hospital for 62 days I can relate!!’ I would say at this point I hurt everyday I just smoke a joint once in awhile

      Love M

    • Does the pain ever end?
      Does anyone know if physical therapy helps? My son is 9 and we have been putting off surgery on his legs. Any experience out there? J I am so sorry that you have terrible pain. I hope someone can help.

      B

      Sent from my iPhone

      • Nur Izzati

        Hi.. from my experiance, physiotherapy does not help with the pain ot make the pain go away..but it will give strenght to ur body..and it will evencually make a person stronger with thier own abilities..and for 9 years old..theres a lot of things they want to do..so physio will help🙂

        All the best

        -izzati

    • Does the pain ever end?
      I DON’T KNOW ABOUT PHYSICAL THERAPY BUT EXERCISE – PARTICULARLY SWIMMING – IS THE BEST WAY TO GO. THE MORE HE CAN HANDLE – THE BETTER!!!!!
      SAM C

    • Does the pain ever end?
      In all honesty he should just have the surgery I had the same one and it’s better to get down when your young but the water aerobics are always better then anything else.

      Love M

    • Does the pain ever end?
      My 10 year old son has had 3 leg surgeries. Within 3 days of each surgery (when the bone is still healing), he has claimed that he was in significantly less pain. We’ve done the physical therapy after the surgeries, but the goal has not been pain management. My son finds the most pain relief by soaking in a hot bath each night. He has found relief by using Superfeet shoe inserts as well (try Amazon or a running store). I’m sorry to hear about so much pain out there.
      Kathy

    • Nur Izzati

      Hi, My Name is Izzati..i understand how u feel with the pain..i having a consisten pain for almost 3years plus now..my age is 20 and i have done 7 operation before..

      For me it very stressfull when all the shot and medication does not work at all..but right now my course of treatment is physio thearpy..all the gym.. although there will be always pain for me now..but i believe i should not let it me to live life fulliest. And even though its does not help with the pain..but i think i getting stronger in my physical aspect..and my physio person see the change too..so when u feel good about ur physical…it will help u in emotion part of urself too..

      Cause i have been so down for the past 3 years plus..and have been admited to hospital most of the time during that period of time..

      I hope u will fine something that work for u dispide the pain u feel..

      Cause pain will always be there..and the doctor always told me to learn how to live with it..so i guess i believe in it too..just keep on trying and keep on living life without any limitation🙂

      I wish u all the best

  25. “I have always had language problems–even though I tested at a 200 IQ on the Peabody Picture Vocabulary test when I was 6 years old (I love to read, and I was reading college textbooks then. So, naturally, I had an impressive vocabulary…)

    However, I mishear words all the time. And then I pronounce them right in my head and wrong in my mouth.

    I always thought it was part of my coordination problem–I can not hit a ball, jump rope, etc.

    Then I went to a specialty audiologist–who said that my right ear and my left ear do not track. Most normal people track and hear with both ears, just as they do with both eyes. I do not. Thus, words that require input from both ears simultaneously (think 3-d vision only for hearing) do not compute. She said that if there are neurological issues with MHE (which there are–see Dr. Yamaguchi’s work on Aspergers in mice), then this could easily be MHE-related.

    By the way, I also do not track with both eyes–I have been tested for that as well, and I fall in the 1% of eye trackers (99% of the population tracks with both eyes better than I do…). I have no 3-d vision. They said with years of effort, I could get it, but I don’t think that is worth the trouble.

    Also, I was not allowed to have pain medication when I was a child (because kids don’t feel pain). Thus, these problems stemmed from WELL before I was on pain meds…”

  26. Jennifer C

    ” I have a large family and many of us have this. It’s “normal” for us. 4 of my 5 siblings have it as do both of my kids. Some of us have had surgeries and some of us haven’t. I know that it’s hard not to think worst case scenario, but it is entirely possible that your son may never even need surgery, let alone have a limb deformity. Our philosophy is that we do not have surgery unless we are in substantial pain (can’t sleep at night) or mobility is impaired. While I certainly monitor my kids’ bumps, most people would never notice an issue with them. My best advice is to let your son be as normal of a kid as possible and try not to worry. I don’t even take them to the orthopedic doc unless they are having a problem or I am concerned about something. I hope that things are going better for you by now.

    Jennifer”

  27. I have MHE as well, and this is my story.
    I am 17 years old and was first diagnosed with MHE around the age of 4 years, although my parents do say that the ‘tell-tale’ signs were there even earlier. At the time, I had problems with strength, fine motor skills, posture and balance. The diagnosis was confirmed by X-Rays. I currently have in excess of 30 exostoses, mostly on my arms, hands, legs and feet. My left scapula is also affected as well as my ribs and pelvis. I can say I have a fairly advanced form of the condition. MHE is prevalent on my mother’s side. Some of my cousins and uncles are also have the condition, but theirs is mild. My younger brother, who is 11 years old, also has MHE. Despite having several large deforming exostoses, I have decided to wait until I have completed my growth before going for surgery. I have had several orthopaedic check-ups in the past few years to monitor my condition.
    MHE has had a substantial effect on me physically. I fatigue easily when engaged in physical activity. My flexibility, mobility and balance are poor. Several of my joints on my hands, arms and legs are affected and misaligned. While pain is not severe, I do suffer periodic cramps during the day and night. I do experience pain, pins and needles and electric shock type of sensations when I bump myself against my exostoses. While I do love sport, my performance does not match that of others due to my physical limitations. It also means that I am limited in contact and strenuous activities. I always felt as if there was an anchor pulling me down or a wall that constantly blocked me from reaching my goals. Despite this, I participate for enjoyment where I can. My limitations are not restricted to sporting activities, although these activities highlight my disabilities when compared to others. Simple activities like kneeling, bending, writing, grasping, walking and sitting are difficult and make me appear clumsy. My physical deformities also affect body image and I generally wear full-length clothing to conceal my abnormalities, even inappropriately.
    Although my condition has affected me physically, it has not had a major impact on my social life. This was mainly due to the fact that none of my classmates knew what was going on and if they did, it did not bother them. I was not bullied or teased for having ‘extra bones’. Even if I was bullied, I seriously don’t think it was because of my condition. There were a few occasions in which my classmates noticed my lumps and bumps. I fondly remember a time when I was practicing cricket with some of my classmates. Since I had noticeable exostoses near my right ankle, a person had asked me ‘why do you keep a ball in your sock?’ At first the uncanny resemblance was funny, but after that I showed him my bone tumour. He was silent and did not comment, perhaps out of respect. On another occasion, a classmate commented on my unusual gait. I told him about my genetic condition (he initially never knew) after which he listened and understood. My friendships were never based on limitations or conditions; we choose to look past all that. Perhaps I am lucky, as this is not generally the case from the stories of others.
    The greatest impact of my condition currently is psychological. My fears around surgery, the risks of malignancy and family planning are the challenges that I presently face. Corrective surgery is a tangible reality which I am about to encounter in the near future. The numerous exostoses on my scapula and pelvis place me at greater risk of malignancy. The genetic basis of the condition places severe stresses on future family planning. These fears have driven me to reach out to others in a similar predicament for support and to learn more about their experiences.
    I am currently in my penultimate year of high school. As part of the curriculum, I am undertaking a research project on a subject of interest. I chose to research Multiple Hereditary Exostoses and the effects of the condition on the individual, family and the community. I wanted to focus on MHE because of the personal connection and to learn more about myself and my future through the experience of others. In doing so, I hope to increase awareness of this condition and create a database that may assist others also searching for answers.
    The title of my research report is “How does Multiple Hereditary Exostoses affect a Diagnosed Individual?” I am gathering information about physical, psycho-social and economic impacts of the condition through a survey.
    The survey will remain anonymous at all times and will take 5-10 minutes to complete. You can access a summary of responses to the survey by following the public link provided. Your time in participation is appreciated.
    Follow this link to participate in the survey: http://goo.gl/forms/eUvllqn4fH
    I have also attached x-rays of my exostoses: https://drive.google.com/folderview?id=0B_SnDXgFepejcmduUVk2OWZkWDA&usp=sharing
    Thank You for your interest.

    • Dear Ree,
      I am delighted that you have chosen to share your HME/MHE story on my blog

      Regarding your survey, although it’s still a small sample the feedback you have already received is quite revealing.

      Regarding my own circumstances, I have been unable to find any family history, while your survey points to 39% having similar “spontaneous mutation”. In my opinion, that is quite a high percentage for a “spontaneous mutation” and I will be interested to see how this number changes as the number of respondents to your survey grows.

      Among those respondents who have inherited HME your survey shows that 70% inherited this bone disease from their father’s side of the family, which would point to the male side being more susceptible to passing on HME genes than the female side (although again as your survey grows the merit of this observation will be proven or otherwise).

      Other highlights of interest of your survey about ‘How does Multiple Hereditary Exostoses affects a Diagnosed Individual” are: .

      * Half or your respondents report having at least 30 exostoses.

      * Your respondents also highlight HME/MHE having three primary physical impacts:
      – “Limb deformities”
      – “Limitations of joint mobility and range”
      – “Difficult participating in physical activity for prolonged periods of time”

      * According to your survey HME/MHE has three primary psycho-social effects:
      – “Difficulty coping with body image”
      – “Fear as to future prospects”
      – “Stress /Anxiety”

      * The most significant economic impact lost work and school time, while the cost of medical treatment is also a major issue.

      * At least half of your respondents require medical assistance at least once every six months, while 68% have already undergone surgery. Given your survey’s age profile it’s likely that most children who have not had surgery will likely have surgery at some later date.

      Ree, well done for putting the survey together. Please feel free to ask any more questions or post your comments here, which is what this blog is all about!

      All the best
      Niall

  28. Virginia A

    Hello my name is Virginia and I have been dealing with this disease for 22 years now I’m 29 and I’ve had over 11 surgeries. My legs still bother me and some times it’s hard to get out of bed. I’ve never talked to anyone who has the same disease as I do. I felt alone for along time and frustrated that people in my life don’t know the daily pain I have to go through. I know they say that this disease is genetic but I’m the only one in my family that we know has it. I recently had a baby and I’m scared to death i could have passed this down to him. Does anyone who passed this down to their children know what I should look for and about what age I should really start to keep an eye on his bones.

  29. Virginia A

    “…As a first time parent I’m scared that he might have to go though the same pain as I did/do and that he will be mad at me for giving him this diease. It’s hard because I have no one to blame for this disease because I’m the first person we know to have it I’m scared he will blame me…”

  30. Jo-Anne W

    Hello
    In my years of dealing with MHE along with the years of my daughter,(she is now 25 and has had surgeries since she was 2 years old) we have been given different names of this disease.
    First for me at 11 years old and I am now 55 years old they called it Spur
    Bones. Then when I was in my twenties they called it MHE. My daughter has had the title of MHE as well then one of her operations they referred to it as Osteochondromitosis. Now we are being told it is Olliers Disease. We also have what they call Madelungs Deformity as I do not have a wrist bone. My daughter had this problem with both her wrists.
    Has anyone experienced the same thing with the different names of this disease?
    Jo-Anne W

    • Nancy McG

      Olliers disease is nonhereditary.
      The internet is a wonderful resource to look things up.
      Here is a brief description.

      http://en.m.wikipedia.org/wiki/Ollier_disease

    • Julie T

      “It was osteochondromatosis when I was young. I discovered the name MHE in the late 90s when I first got internet. The World Health Organization uses HME. I believe a Madelung deformity is just a deformity of the wrist bones. I also have MD in my right wrist. You can have MD without MHE if your wrist is deformed for any other reasons too. MHE is just one of the reasons you can have a MD. I think MHE/HME are now the common name but old docs might still call it osteochondromatosis or if the doc read old literature. I believe in Europe it is HME too. That is my understanding anyway.”

  31. “Seriously having a very bad MHE week. Just found out that all 3 kids need surgery. Now we are on our way to the ER as our son’s hip has popped out of the socket. Tumors have caused his hip to grow out of the socket. Last I was told he was about 65% out of the cup. Please pray for our family. This condition is really kicking our butts lately!”

  32. Re: Traditional Chinese Medicine (TCM) Acupuncture / Qigong and MHE

    “our daughter has mhe. now 17. the leading “expert” in the country has been “treating” her since age 4. nothing to do other than as much exercise as possible. a year ago pain started – particularly in knees. it progressively got worse. every kind of doctor you can imagine was visited. every kind of test you can imagine was done. the pain doctor was at the point of prescribing morphine. she could not walk 500 feet and barely climb stairs at all.

    on the suggestion of a friend we went to see a chinese practitioner.

    after one visit – a reduction of 50% in pain. after 4-5 visits 90% reduction. she can now function “almost” normally. he did not use needles but placed small metal balls (apx 1 mm) in various places around knees and a very mild massage after about half an hour.

    am i a skeptic?

    you bet.

    but i don’t care! after a terrible year – we have our daughter back without drugs – without surgery – what can i say?

    by the way – she was to have a “treatment once a week – she feels so good that we have not been back in over three weeks.

    also – our insurance covered 60% of the cost.

    questions?

    ask!

    Sam C
    rehovot , israel”

    • “Hi Sam,

      Is there a name for this therapy? Can her practitioner in Israel recommend any practitioners in the US?
      My daughter has knee and ankle pain and is 12 years old.

      A skeptic too but wanting to learn more.
      Thanks,
      Mike (Dallas TX)”

      • “…o.k. here is the best info i can provide
        the form of therapy is called “qigong” – you will find that this is a general name – the therapy is supposed to use both needles and massage. in my daughter’s case – aside from the fact that she is afraid of needles – she is “super up-tight” – in place of needles he uses small metal beads which he puts on with cello tape for twenty – thirty minutes. about six or seven areas around the knees – also one finger that is particularly bad. the then removes them and does a very mild massage. not sure if his singing in chinese has a effect or is required but he does.
        the “beads” are what are called “seeds” and are used in treating ears. i am attaching photos of strips of them which he cuts into little squares of two or four.
        i have taken some of these home with me – crazy as it may sound – i have placed them on my forehead when having a headache – immediate relief and i do mean immediate.
        am i a skeptic? yes – yes – yes
        but what can i say? it works.
        he is loaded with patients that have the same “wonder”stories as i. we sit and exchange horror stories.
        my daughter was at a point of not being able to walk a block. stairs were a torture. the pain doctors and i use the word doctors with an “s” – were prescribing morphium.
        the other advice i am receiving from them is to start some genetic testing. investigate a website called “23andme” – i understand they do a basic test for $99 using saliva.
        i can only wish you all the best. i hope i have helped a bit.
        advise if you need anything else.
        sam c.”

  33. “Be careful going to Chinese doctors. I went to one and the language barrier and strange treatments made things worse. He thought my “tumors” were flesh he could “heal” (read: magically make disappear) and didn’t understand that my body was built differently than any other body he had seen. He made my back worse because he didn’t prop my hips with blocks and he tried to massage bone away calling it scar tissue. As for qigong, it is a lifestyle, not a medical treatment. It is Chinese martial arts combined with meditation as a way to balance your “life force”. (for more info see: http://en.wikipedia.org/wiki/Qigong )
    Meditation has been proven to affect pain levels and if qigong is useful I think it would be for that reason (see: http://www.psych.uncc.edu/pagoolka/seminar/jofpain2009.pdf ) I understand that you are desperate but please be careful with unproven treatments. Make sure any alternative practitioner fully understands what MHE is and what it isn’t. Most orthopedic docs don’t understand it, we can’t expect untrained, non medical professionals to understand it either.
    Some people believe in alternative treatments but if something is actually effective the medical community usually embraces it and refines it to be even better. I am in no way trying to tell you what to do or even not to do this, just please be aware that there are a lot of quacks out there who just want to take your money and don’t really care about helping you. Best of luck finding something that is helpful, wherever you find it.

    Julie Mae T”

    • “understood – the “medical community” has little familiarity with mhe –

      a couple of facts

      1. he does not try to massage the growths away but rather after the session with the seeds the muscles tighten up and he is relaxing them – it is very very mild – barley touching the skin -my daughter says that is he seems to be adjusting the chi of the body.

      2. in sitting in the waiting room – which is always nearly full – i have heard over and over from the other “patients” how this man has literally saved them – after visiting both regular doctors and chinese practitioners.

      3. we spent six months with every department head and every professor you can imagine – not to heal the growths but to deal with the pain. results – zero.

      4. several years ago we visited beijing – while there we went to three hospitals – the central army hospital – the central medical hospital – the central chinese medicine hospital. first of all – with their population – they were much more familiar with mhe – they recognized it immediately. all three we unanimous in their verdict. nothing can be done. not very encouraging but that is what we found.

      5. again – i am a skeptic – that is with a large “s” – but i now have a functioning daughter. the “medical” community was at a total loss of what to do – morphine patches was the last prescription.

      8. are we “desperate”? we have been desperate for the past fourteen years – from the day we learned what she has and what can be done about it. we have been desperate watching the growths grow. we have been desperate waiting for the pains to begin and knowing that they will.

      at least now there is the possibility that our daughter will be able to live a semi normal life without having to undergo surgery. the pain or rather pains are still there – they are not gone – my daughter is the best weather forecaster in town.

      sam c”

  34. Max

    re: MHE – great blog but it is not loading right! I hope you get this. Even if you don’t blog anymore it as an amazing amount of information.

  35. Mark Anderson

    Hi I am Mark, I have MHE /HME – have had multiple operations
    I se up a FB group for any one who want to join or follow. Facinated by all of the information here.

    https://www.facebook.com/groups/1492777671024556/

  36. Alia Mklimon

    I was diagnosed with this disease a few years ago but I am thinking that my diagnosis is incorrect. In 7th grade I went to an orthopedist after we noticed a bump about the size of a quarter on my left humerus and he told me it was a solitary osteochondroma. A few months later though we discovered two new bumps on my left pointer finger. In 8th grade, X-rays to see if shin splints were stress fractures revealed one on my right shin and one on my left knee. The doctor did not seem too concerned with them and he simply stated that I have “multiple osteochondromatosis” and that when I stop growing, I can consider surgery if they start to cause pain. He gave me a packet on MHE and didn’t really say anything else about it. I am confused if I have this because none of them seem fast growing and I don’t have any pain, which is a pretty common symptom from what I understand. The disease was unheard of in my family and my identical twin doesn’t have it from what we know. Oddly enough though, I am 4 inches shorter than her, so if I did have MHE that could explain our difference in heights. Does anyone have any thoughts as to if I have MHE or just if I have five solitary osteochondromas? Thanks!

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