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If you think your child has MHE, here are some next steps to consider:
- Confirm the diagnosis by seeing a pediatric orthopedic surgeon or a genetic counselor.
- Take care of yourself; take time to process the diagnosis and to learn the basics of MHE.
- Build a knowledgeable clinical team you trust (including primary care, geneticist, orthopedic surgeon, and therapists as required).
- Ask questions of the MHE community and your clinical team as needed.
- Love your child and your family. It is impossible to tell what the road ahead will hold, so we encourage you to find comfort and joy where possible. You will know when and if MHE presents a problem to be addressed. While aspirational in this moment, we encourage you to soak up the times when MHE does not present problems.
Key Facts About MHE:
- The prevalence of MHE is about 1 in 50,000 individuals.
- MHE is caused by mutations in the EXT1 or EXT2 genes, which disrupt heparan sulfate synthesis, affecting bone growth and cartilage formation. A genetic counselor can help with accessing testing for a mutation on the EXT genes.
- While osteochondromas usually stop forming when the growth plates close at the end of puberty, many adults report symptoms of MHE; this is a lifelong challenge.
- There is significant variation in the extent of MHE symptoms and it is impossible at a young age to predict the sequence, severity, and challenges the disease will present.
- Possible complications include pain, limited range of motion, and a rare risk of malignancy (less than 5% and most often in adulthood).
Some Things to Expect:
- Regular check-ups, imaging (x-ray, MRI), and sometimes surgery are part of MHE care.
- Moving through childhood and into puberty, some children navigate pain, difficulty with physical activities, and challenges socially and in school.
- Treatment options may include guided growth procedures, surgery to remove osteochondromas, school supports, emotional supports, occupational and/or physical therapy.
New Diagnosis
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