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2 Bumps

Genetic conditions

Is there anyone on here who found out that their child has a genetic condition? What is it? What were the first signs that they had an issue? Or is there anyone who has a genetic condition (Mom's). Can you share your story?

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Asked by Anonymous at 3:09 PM on Jan. 21, 2011 in Kids' Health

Answers (4)
  • Yep, my kids has a skin condition called EPIDERMAL BOLOSIS (sp) (ever see that show THE BOY WHO"S SKIN FELL OFF?--a mild case of that) the first signs were open raw sores on the skin...then because od all the bleach the hospitals use on blankets etc their whole body blistered...truely ugly screaming messes they were we did not know how to hold them...(until with my second I brought all clothes, blankets etc and that helped some. With my first we did not know if he would get it or his chances. Did not have a name for the condition even though I had it, my dad and his mother both had it. After he was born a resident came in and they took the baby to have docs look at him and asked everyone to leave my room then he had the nerve to ask if maybe i had something to tell him that maybe I had not told DH!!! YEAH, NO I grabbed him by the tie and SCREAMED at him to GET OUT and bring my baby back! now...cont

    Answer by rebeccadac at 3:20 PM on Jan. 21, 2011

  • 3 years later all 3 of my little one have this but now we have a name and through trial and error we are learning what each of the kids needs. my heart broke though each time I got the news that my baby had this because it can be painful and they would not have this if I was not their mother.

    Answer by rebeccadac at 3:22 PM on Jan. 21, 2011

  • You & your S/O can both have blood work done to test both of you for about 100 genetic disorders that you may be a carrier of. I had it done when I did IVF. I went to a Reproductive Specialist. If you are a carrier of a genetic disorder (that can be identified today) you can screen it out using PGD with IVF.

    Answer by Anonymous at 3:25 PM on Jan. 21, 2011

  • My son has something that isn't usually thought of as genetic. He has epilepsy. The doctor did an MRI and from everything on that and the other tests, it's likely genetic. We do have a niece who had seizures (never labeled epilepsy and far more severe than DS2's) from age 4 -12. then they just stopped. So there is hope for DS as well.

    Answer by balagan_imma at 5:38 PM on Jan. 21, 2011

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