Special Needs
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So, here I am in Holland.....I was planning a trip to Italy but landed here instead. (If you haven't read this poem I will post it)
I have joined NODOCC and the ACC-List serve. I have also found the blog "Angels Around the World" helpful. I have been an active poster in the past and hope I can find a new home on this board. At this time, it is really really hard to go to the other boards. Thank you if you have read this far!
An Introduction: P-AAC Mommy
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Hello ladies!
Our son was born on December 3rd, 2009 and diagnosed with Partial Agenesis of the Corpus Callosum(P-ACC). He is missing the rostrum and splenium. We need to get confirmation if his CC has hypoplasia also. He was originally brought into NICU for breathing problems and a large PDA in his heart. He also had some other physical characteristics which led the Drs to look further and call in a genetics specialist. His physical features include: hypertonic arms and legs and a hypotonic trunk, a protruding sternum, a very large soft spot, missing set of ribs, small jaw /chin, slightly wide set eyes and somewhat low set ears. His thumbs were also folded in which prompted an MRI to look for neurological implications and that is how they discovered the PACC. We discovered three weeks ago that he has a novel interstitial deletion on the short arm of his Chromosome #1.(7 other cases documented) He is missing a gene called NFIA which research suggests is involved in the development of the corpus callosum. He has a couple of smaller deletions which we are not sure of the implications. We are being tested to see what our chances are for future children. He is a very good baby and is so far doing regular baby things. He has a slight issue pursing his lips so we squeeze his cheeks to help him with the bottle. The P-ACC so far is the only major issue he has. We have checked out all the other issues that his gene deletion would cause and everything appears normal except he has a hernia which we will be fixing soon
So, here I am in Holland.....I was planning a trip to Italy but landed here instead. (If you haven't read this poem I will post it)
I have joined NODOCC and the ACC-List serve. I have also found the blog "Angels Around the World" helpful. I have been an active poster in the past and hope I can find a new home on this board. At this time, it is really really hard to go to the other boards. Thank you if you have read this far! 
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Re: An Introduction: P-AAC Mommy
Welcome to the board, your son is beautiful!
How were they able to detect all those deletions? Did he have a microassay?
He had a CGH array done. It stands for Comparative Genomic Hybridization. My husband and I are also getting a CGH of just our Chromosome #1 since that is where his deletions are located.
In the research study we found about his specific deletion they "strongly recommend array CGH analysis for patients with agenesis or hypoplasia of the CC and ventriculomegaly." I think they want to nail down the idea of the NFIA gene having something to do with CC development.
I remember you too Indiana! I know I am not alone in Holland. That first night in the hospital was the lonliest night I have ever spent because we knew there was something wrong with our son just not what it was.
We were just about to do IVF when we got pregnant with Nate so I understand the anger and frustration of infertility and then the anger and disappointment one feels when the supposed "reward" is not exactly the gift you were expecting. Our children are gifts though. I told my husband that Nate chose us for a reason. He knew that a "normal baby" would not be enough of a challenge for us. ***Hugs***
Welcome from another ACC mom. I think there are now 5 of us on the board. Interestingly enough, DD is the only girl (makes me curious if it is more common amoung boys). Anyhow...
DD has c-acc and also has some chromosomal issues. Hers do not involve the 1 chromosome at all, but rather she has an unbalance translocation involving the 8th and 12th (a small duplication of the 8th on the 12th and a small deletion of the 8th). She also has a VSD (very small) and also has the lower set ears (which is apparently VERY common amoung kids with chromosomal issues as are heart defects).
I am sure your geneticists and neurologist have shared with you that feeding issues are quite common with our ACC'ers since it is a midline activity. Your child will automatically qualify for your state's early intervention with an ACC diagnosis and OTs can help with this. PT will help with the hypertonia and hypotonia (DD is hypertonic in one hamstring)--it is not too early to start!
Feel free to pm me if you would like to exchange emails and chat. It is great to have the support of other moms!
Good luck and I think Holland is going to be beautiful!!
Hi ya, I too am a mother of a ACC son. Our son has complete ACC and I learned about it while I was still preg. I was petrified as to what the future meant for him, but he is here and we are living in the present. He is our gift from God. So far he is doing great, a bit delayed in rolling and sitting but he babbles and eats, and interacts pretty well. Our son doesn't have any choromosomal abnormalities so his is a complete fluke. I really found that the other websites out there were pretty saddening to me in that they only showed the horrific and very difficult side of ACC. I have enjoyed meeting other nestime mommas of ACC babies. It saddens me this exists but comforts me we are not alone. I hope that you find the support or outlet you need from us here and I know that this isn't easy but you will def find whatever the dx is it doesn't matter, he's your precious gift. He's absolutey perfectly adorable BTW> Please feel free to email me if you'd like to chat more
carribeauprez@hotmail.com
CHEERS and congrats on your new babe!
After 1 MC 2007, 2 CP, Cade Anthony is here:
Photography Blog Our Family Blog
PS i love how you said Nate chose us! I truly believe God choose Cade to be our son, and he only chooses those parents that can raise a SN child well!!
After 1 MC 2007, 2 CP, Cade Anthony is here:
Photography Blog Our Family Blog