Wednesday, February 19, 2014

X-linked Hydrocephalus, an explination

It's also known as L1 Syndrome. Anybody can get hydrocephalus. This just means “fluid on the brain”. You or I can just wake up with this. Commonly people will get this if they have been in a car accident or had a traumatic brain injury. Ours is linked to the chromosomes. Without sounding too much like a doctor here, basically it is something that boys are affected by and are born with. It will never go away or get better. There is a 50/50 chance that girls in our family are a carrier of this disorder and a 50/50 chance that boys are affected by it. To take you back a bit into my family history with this, My Grandma had 2 sons and 2 daughters. One son passed away from this disorder shortly after birth, and the other is still here. He is as normal as they come. Out of the 2 girls, one went on to have 2 girls and 2 boys of her own without any problems. My mom on the other hand was not so lucky. My mom had 2 boys and 1 girl. The girl is me and I am doing fine. The boys on the other hand…one passed away after 9 months and the other is doing well and is a pain, just like a brother should be.

 My journal entry
March 28th- My mom had her genetic test come back and, as we already knew, she is a carrier. On the 20th I had my blood drawn and sent to the lab to see if I am a carrier too. They called today with the news that I am a carrier too. We could do amniocentesis, but that scares the crap out of me. There is a 1 in 500 chance that baby could miscarry. My luck I would be that one. I’m not willing to take that risk. We will just monitor brain activity though ultrasound. And pray, a lot. Besides that this is going as well as expected. I have had cramping the whole time and my nose has been driving me crazy. It’s plugged and itchy. I have started to feel pressure in my uterus but no feelings of butterflies yet. I’m told that is what to wait for, that is baby moving. I haven’t gained any weight yet. My memory is starting to go. For the last 2 days I have been sick with “allergies” there is nothing that the doctors can really give me anyway so I suffer through. I think today is my brake through day. Coughing up a lot of phlegm but once it’s out them hopefully I will be done with it.

We found out on the first ultrasound that our boy was probably affected. All the ultrasounds after that just confirmed it. Our lives were going to be difficult from here on out. Everyday was hard. Knowing all that we would have to deal with. Knowing our son would never be "normal". We prepared as much as we could. We toured the NICU at the local hospital. We formed a team of doctors that would be at the c-section. We planned a c-section for 3 weeks earlier than the due date.

I went in for an appointment 5 weeks before the due date. I had high blood pressure and they wanted to monitor me overnight. My pressure got better but baby Noel's heart rate dropped, indicating he was in trouble. He was coming out now! No one from our team was able to be there, but we proceeded anyway. He came very fast. They whisked him away to baptize him and check all his vitals. I went to recovery and baby Noel went to the NICU.
                                                           Baby Noel IV getting baptized
                                                          MRI taken 2 days after birth
  The dark area is all fluid. His brain is being pushed against his skull, causing his head to be abnormally large.

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