dystrophic dysplasia — The Bump
Special Needs

dystrophic dysplasia

My son has been diagnosed with a mild form of this genetic condition. his doctor says there is only one other documented case of his specific mutation in the whole world. wow rare. anyone else's child have this condition?
Cloth diapering, VBAC, BF & FF, AP momma to two 2 and under. Special needs - DS born with clubfoot and diastrophic dysplasia (dwarfism)

Re: dystrophic dysplasia

  • First of all, congrats on your new baby!

    And welcome. 

    DD is two and also has a rare form of dwarfism. Only 140 people in the world have had it and there's not much info. available at all. Since DD also has other major medical concerns, its not where we put most of our focus and sometimes I totally forget that she has it. Though in reality, I think a lot of the other concerns actually stim from er type of dwarfism. 

    We have been to a very well respected geneticist who specializes in dwarfism and are now working with a whole team who knows a lot about the more general group of Primordial Dwarfisms. They've been amazing to her and us.

    I've heard good things about the Magic Foundation, but am not a member. You may want to look there, though.

    There are also a few other Mom's of children with dwarfism on here.

    Do you have any specific questions?

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    "In a wild sea of eyes I'd see one pair that I recognize and know that I am the luckiest"- Ben Folds
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