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Duchenne Muscular Dystrophy?

pcefern1pcefern1
in Special Needs

Anyone here have a LO with this diagnosis?

DS was diagnosed with DMD in January.  He's 10 months old and we only found out about it because he had some other blood work come back abnormal.  Right now he's asymtomatic but we should start seeing signs in a year or so.  He's also a former 26-28 week preemie (birth mom didn't know she was pregnant).

I don't really have any questions right now, just wondered if there was anyone else here for support.

Me- PCOS DH-MFI TTC since 2003, several clomid+IUI cycles all BFFN, Forced break due to OOP, turned into a permanent break Unexpected family/private adoption in 2010 DS born at 26 weeks, beat all odds in the NICU Diagnosed with Duchenne Muscular Dystrophy 1/2011 Adoption finalized 2/2011- BEST. DAY. EVER.
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Re: Duchenne Muscular Dystrophy?

  • MAtoNCMAtoNC member

    I do not have a child with DMD. I am a muscle biologist, though, and have done some research with a group out of DC that specializes in DMD. You may want to look into them. The leader of the group is Eric Hoffman, who discovered dystrophin, the gene that is mutated in DMD. He does collaborative research with folks across the country and around the world. They are doing some really amazing work, especially in a technique called exon skipping. You can read more here.

    I'm sure a diagnosis like this is a lot to take in. I just wanted to come onto the thread to give you a virtual ((hug)) and to welcome you.

    Married 4/12/08 DS born 11/17/2009 via c-section at 39 weeks. 11/12/2011 BFP #2!! m/c 7w5d. 2/28/2012 BFP #3 Beta #1-12dpo = 18; Beta #2-16dpo = 185; Beta #3-18dpo = 505. EDD 11/10/2012. Ectopic discovered at 5w4d. D&C followed by methotrexate.
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  • pcefern1pcefern1

    Thanks for the hug and thanks for the link!  DH and I are pretty overwhelmed right now so we're still in a bit of denial.

     We did sign up for a national study through our neurologists office, but I don't know if it's the same one you mentioned.  I'll look into it though!

     

    Thanks again for the info!

    Me- PCOS DH-MFI TTC since 2003, several clomid+IUI cycles all BFFN, Forced break due to OOP, turned into a permanent break Unexpected family/private adoption in 2010 DS born at 26 weeks, beat all odds in the NICU Diagnosed with Duchenne Muscular Dystrophy 1/2011 Adoption finalized 2/2011- BEST. DAY. EVER.
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  • AnasaraAnasara

    (lurker here; no kids yet but I have a genetic issue that may be passed on to my future kids)

    I babysat for a family in high school where 2 of their 6 kids have DMD.  Their oldest son is now a college grad, working & living on his own (with several nurses who help out on a scheduled basis).  He wasn't in a wheelchair until high school.  Child #4 also has DMD but was symptomatic a lot earlier.  He's in high school now & on a ventilator.  So the progression varies widely.  His parents were very involved with a parents' group @ Boston Children's Hospital; maybe look into something like that where you live?  Good luck!

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