Genetic testing?

So I am worried sick. I have 2 yo old triplets. 2 of them are genetically identical. One is totally fine (as is the fraternal triplet) but my other identical has had issues since the beginning and had been diagnosed with cp for about a year. Anyway, he is a preemie, a triplet and has very classic cp symptoms. The MRI shows pvl, the most common brain injury linked to spastic diplegia. Every specialist says cp. We had a neuro follow up today, and she said that because he was a late term preemie (34 weeks) that cp is rare that far along and maybe something else is going on. She did a blood test that ruled out muscular dystrophy, thank god, but now wants is to see a geneticist. I don't know if I brought this on myself because I said I was thinking of having another baby and she wants to be sure? But now I will be a wreck till the appt. how is it even possible for him to have something if he has a totally typical identical twin? What do they do at these appointments? Has anyone seen martin bialer? Feedback? Do they share any suspicions there if they are thinking syndrome, or do they just do blood? Thanks...I am a wreck. CP never sounded so good to me :(

Message edited 8/25/2014 8:27:43 AM.

Genetic testing?

I can't comment on the twin thing, but I have gone for genetic testing with my son. Our geneticist did a physical exam and did try to visually come up with ideas on possible syndromes. She then sent us for bloodwork to test for everything. It's definitely a nerve wracking experience to go through something like this, good luck!

Re: Genetic testing?

Thank you so much for your response. I hope all is well with your child. Did they do testing on all 3 of you or just your child? My husband and I both had counsyl panels (genetic testing for expectant parents essentially) when we were thinking about a fourth baby and it came up all clear essentially. I'm a carrier for something, but it's not really a big deal, and my husband isn't a carrier for anything. I feel like that, plus his typical identical twin, should be good enough? Ugh. I hate this. Thanks again :)

Genetic testing?

We did not have genetic testing done on us. Nothing came back on my son's genetic testing, so for now we just have some random "issues" that aren't falling into a "syndrome" on genetic testing. I think if he had tested positive on something, they would have recommended that we go for testing also.

Re: Genetic testing?

My nephew is 5 years old was born at 32 weeks and has CP. His MRI shows PVL. My sister has gone all over long island to help him. His neurologist always said that he had the typical symptoms of spastic CP but felt there was something else going on. My sister finally took him to the CP center at bostons childrens hospital and a whole new world has opened up. They work with winthrop and have found multiple things wrong with him now including a genetic issue. Muscular dystrophy is not tested by blood only. He just had a muscle biopsy done because that is the true way testing for it. My sister is not on LIF but if you if you ever wanted more info I know she would be more than willing to talk to you. HTH!