Hello - I posted to you before as Mommy to Olivia and described my 15 month old daughter's short stature and told you that the endo was suggesting it to be achondroplasia. We got x-rays back and she received a diagnosis of Multiple Epiphyseal Dysplasia. I asked the doc. a few ?s and he kept referring me to a website that has lots of medical jargon that I don't understand. He basically only told me "lots of problems growing". We are being referred to Shand's for genetic counseling soon. Any info in this dysplasia would help me greatly. Thanks in advance.
At this point I agree, referral to genetics is helpful, also a visit to see an orthopedist is also helpful, a pediatric orthopedist. The epiphysis is the growth plate and dysplasia means that the growth plates are growing abnormally, this is a symptom but many diagnoses can be related. So start with them and then consider a pediatric endocrinologist to help work with the team.
Thanks for your response. I say my ped. today and got the radiology reports. It says "Absence of ossification of the humeral as well as femoral epiphyses. Epiphyses of the kness, ankles, wrists are unremarkable. I believe the femoral necks are short and broad. Positive for widening of the metaphyses primarily involving each tibia with mild beaking. Findings most suggestive of MED."
She never crawled and walked at 13 months. She still does not put weight on her knees - could this be a symptom? What are the possible treatments for this? Physical and hydro therapy I have read about - how early do these usually start?
THANKS SO MUCH!!! THIS IS A GREAT RESOURCE!!!
This is now a disorder that needs involvement with several folks, out of my area in regards to treatment options. I would involve first with genetics and consider orthopedics.
They can talk about occupational therapy or physical therapy and genetics can discuss definition of the type of bone disorder and involve endocrine in regards to growth promoting treatments or screening for other endocrine disorders
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