This is a long post because so many have asked what all we are facing. Futures will try not to be so long 😉
Well, I grew this pregnancy! && baby boy was much more punchy, kicky, and heavy than his older sister Kara! Of course, at this point, Kara is a crazy hoot too, and she’s gonna make a great big sister!
Baby boy’s name will be released with the next post… I deliver tomorrow. I always wanted to wait until birth to find out the gender of my child. I mean, seriously? How many real surprises do we get in life? Not many! Unfortunately, I’m in a situation I can’t do that – so the next best thing is to surprise our families! So, for now, baby boy is referred to as baby boy, baby bear, little bitty, or little man <3 He should be referred to as fighter though! My man is strong! I don’t create anything less – ask Kara!
Doctors haven’t been hopeful we would see a full-term live birth during parts of this pregnancy, but at 34 weeks things changed:
((doesn’t it look like God is lifting Fighter Man’s chin, holding him up high when he can’t hold himself up high, and saying “fight man, fight!”???))
Our baby bear has been diagnosed with L1CAM Syndrome. What this means? Well, it has been recently named CRASH Syndrome as well, acronym for: Corpus callosum hypoplasia (agenesis), Retardation, Adducted thumbs, Spasticity and Hydrocephalus. The extent of each piece is unknown until we “wait and see.” I hope to speak with a genetics doctor within the NICU or soon after being released. We know more than some families, we know which amino acid was swapped, and we know where on the L1Cam gene the swap occurred located.
Mutations vary family to family, and its pretty much unheard of (there are very very few exceptions, like a handful) that the same mutation strikes two unrelated babies. The severity of disease is related to where the mutation occurs at within the L1 Cam gene… however, even two siblings with the same mutations can present in completely different ways and severity. So from a medical standpoint, my child really is the only child in the world with his exact condition.
What does this mean?
Ultimately, it means we pray and love, wait and see. It means EACH child is different. No two kids are the same, no two mutations are the same. We are expecting to see delayed speech/learning, low muscle tone, hydrocephalus, and delayed motor skills. We have been told he may need a wheelchair, he may never be independent, we may never hear him sing. We have been promised he will be intelligent, give more love than any other person ever knew existed, and make people laugh. We are hopeful he will be the odds: he will nurse, he will walk, he will find his own way to communicate.
For all of you praying for our family, our son, and our daughter…. thank you. That’s truly all I can ask! THANK YOU. Pray God knows what He is doing, and that He’s teaching us what He wants us to do!
We do not have a diagnosis for him yet, as all will be diagnosed post-natal with MRI and Ultrasound technologies after extensive and complete behavioral and neurological exams. We are expecting further genetic testing as well.
– We believe baby boy has X-linked hydrocephalus because of stenosis of the aqueduct of Sylvius (HSAS) which occurs 1:30,000. It accounts for approximately 5-10% of males with nonsyndromic congenital hydro. The prevalance of HSAS within L1 is rare enough its incidence rate is unknown.
– Agenesis of the corpus collosm (Andermann Syndrome) in baby boy can cause anything from seizures to absolute normalcy, nothing. Usually it is not diagnosed until well within the first two years of life. Because many cases are undiagnosed, and because complete and partial ACC is grouped together, it is believed as many as 1:1000 people may have some sort of “not perfect” corpus collosum.