Multiple Hereditary Exostoses

MultipleMULTIPLE HEREDITARY EXOSTOSES

Not all Rare Diseases are visible and noticeable when meeting someone. Multiple Hereditary Exostoses (Bumpy Bones) is what my identical 6 year old twin sons have. Some bumps you can see easily and some are hidden. It is a genetic hereditary disease but in their case they were a spontaneous mutation so are the only ones in our family to have it. They now have 50% chance of passing it on to their children.

Being a RARE DISEASE means there is not a lot of research or funding being done on this condition, meaning there are so many unanswered questions for everyone affected by it.  I am so grateful for social media as it has enabled us to find some information and support that we would not have had otherwise.

While my sons are growing so will the Bumpy Bones, sometimes the bumps still grow during adulthood. The bumps can catch and rub on ligaments, tendons, muscles and other bones, causing extreme pain. The bumps can cause length discrepancy and angle deformity in legs, arms, fingers and toes. The bumps can restrict movement and motion and cause pain in joints. And always in the back of your mind, these bumps can turn cancerous.

Everyone affected by Multiple Hereditary Exostoses is affected differently, many children will need multiple corrective surgeries throughout their childhood to remove bumps. There has been some studies, research and parent conversations questioning and linking this genetic condition to other conditions i.e. Autism, ADHD, Speech delays, Learning Difficulties, Diabetes, Arthritis, Heart Disease, and Thin Teeth Enamel.

I wonder if we will ever really know??

2 Comments
  1. Well said!!!! My son, now 21 has had over 35 surgeries and a Chondrasarcoma (cancer) in the chest ( requiring 15 hours of surgery in total).. To date he still has dozens/ probably 100’s of tumors actually that have not been addressed. If we don’t tell people or if you don’t see him in the summer by the pool in his swimshorts when a lot if his scars are exposed all over his chest, back, arms, shoulders etc…..It’s true…. You would never know. If you look close You may notice a limp, his knock knees or the fact that he gets in and out of a car with extreme difficulty and pain. It is sad that these kids and adults need to suffer a lifetime like this. Our family founded the MHE Research Foundation and are working closely with doctors and researchers that are spring to find a cure. I want nothing more than to find s cure to help my son and the future of our unborn grandchildren !!! If anyone would like more info or wants to learn how they can help or just want to talk about MHE and our kids… You can email me at mhefuntasia@gmail.com
    Thankyou.
    Susan…. Mom on a mission to find a cure!!!!

  2. Greetings and salutations. I am an MHE sufferer, closer to 50 than I would like to be with 2 children (16 and 10 – both with MHE). I am MHE through spontaneous mutation but clearly my kids are not. MHE has profoundly affected my life but not entirely in a miserable way. I have 12 surgeries including scoliosis (not connected apparently – jury out on that one for me), got staph infections, been in and out of hospitals etc etc. Somehow I convinced myself that having children would be okay and I would manage their issues better because I knew what I was dealing with. I would have a sense of humour about it all that I lacked entirely as a kid myself. So far, so good. One is through the worst of the surgeries and I have got one to go. The older one is 6ft 1 inches tall – so much for potential height issues) and is thinking of studying medicine (as an MHE sufferer you would think you had seen enough of hospitals to last a lifetime. Apparently not). Approaching 50 has brought on the joys of arthritis for me but you know something has to start breaking down around now and at least this is a subject with which I am entirely familiar. A cure would be lovely (and I read buckets of stuff on the developments through the Sanford Burnham Institute of Rare Diseases in Calif) but that seems a long way off yet. As I get older, it occurs to me that the mental health component of it is almost more important than the physical stuff. The psychological scars are much harder to see than those caused by scalpels. I think we need to love and bolster our MHE kids. MHE is an inconvenience but it does not define us.

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