(Like X-Men, but better)

As many of you know, I found out that the son I am pregnant with (28 weeks now), has hydrocephalus, along with an abdominal issue and heart defect. Recently, I found out a few more little answers to our questions.

For starters, we found out that baby has X-Linked Hydrocephalus. Which basically, the disease is passed down through the mother only but only males get this (well, 99% of children who get this are male). It is a rarer disease, as it only occurs in only about 1 in 30,000 babies. It’s passed from the mother to the baby. It is basically impossible for this gene to be passed from the father, but is only shown in males born. And it’s just genetics. So from what I understand, I somehow inherited this from my father, making me a carrier, and it was inevitable to happen. I was asked about my two year old son if he had any learning issues. The only thing he has, is he doesn’t know a lot of words. He still uses a lot of baby talk. Most two year olds should know 50 words, he only knows about 10, but he’s good at showing us what he wants. It’s his speech that only close family would understand. I mean the kid can almost say dinosaur. But it could be a learning disorder, passed down from me. Or he just chooses to not talk to us. Baby Fox, seemed to get all the bad aspects of this disease. This type of hydrocephalus is called L1 Syndrome.

So according to a hydro site, I read this quote: “During reproduction, an individual acquires two sex chromosomes, one from each parent. Females have two X chromosomes (XX) while males have an X from their mother and a Y from their father (XY). Females with one affected X chromosomes are called ‘carriers’ and have less than a 5% chance of showing clinical symptoms. This is because females have a second, intact copy of the L1CAM gene which is inherited from their father. A female carrier has a 50% chance of transmitting the affected gene to each child. Read more from this site about L1: https://www.hydroassoc.org/finding-our-way-with-l1cam/

L1 Syndrome: As I read online more in depth into what exactly L1 is, I see the words “mental retardation“; “adducted thumbs“; “shuffling gait” and “aphasia“. All of which are not the best things to find out your child could potentially have. We all know what mental retardation is, so I wont go into that. I explain adducted thumbs below. Shuffling gait is when one walks with dragging their feet and sort of slouched over. When researching this syndrome, I noticed almost all the children I saw, were in a wheelchair of some sort. Aphasia happens to be, as wiki puts it, “loss of ability to understand or express speech, caused by brain damage.” He also has a possibility of X-linked spastic paraplegia and ACC. SPG1 is when the legs stiffen. We really wont know which of these he will have, or the severity of it all, until he is born. I also learned from my high risk doctor, that there’s a high chance he will experience seizures throughout his life. It’s a lot to process, and we don’t have very definite answers. But knowing he has L1 at all, has been beneficial to our knowledge.

We noticed in his ultrasound photos, his thumb on his left hand (he was hiding his right hand) naturally goes introverted- or toward his palm instead of outward like ours do. Also referred to as an adducted thumb. He will still be able to move it around, it just naturally will rest inward toward his palm. This is the indication that he has X-Linked Hydrocephalus. L1 Syndrome.

We also met with a fetal cardiologist, who did about an hour long ultrasound and noticed that the heart defects he has are nothing too major. Which is a huge relief. He has five tiny holes in his heart, but she informed that these will not require any sort of surgery and could possibly even get smaller. He will, however, have a murmur. Which is no big deal, compared to worse situations. He also seemed to have a second vena cava. So in the diagram, the big tube in our heart, we only have one, well he happens to have two, one on his left side and one on the right. Which is also no big deal, because she informed that this will have no effect on him at all. It’s just an odd thing to have! I have an appointment to check his heart every four weeks until he is born.

He will 100% have a permanent shunt placed in his brain after birth, that we already know. Which as I’ve stated in my previous post, a shunt is a metal rod going from brain to abdomen which will slowly drain the fluid out from his head. Because yes, chances are, this baby’s head will be pretty big after he’s born from all the fluid he has built up in it. But eventually it will shrink over time from the shunt, and he will look fine. Nothing wrong with a big head, hydro babies are adorable. But before that, he will be having abdominal surgery to fix the double bubble which will highly result in, you guessed it, a temporary ileostomy bag. Like mother like son, I guess. Now the two of us can have matching belly scars.
I’ll be meeting with NICU, a neurosurgeon for his brain, and a pediatric surgeon for his tummy. I have already met with the fetal cardiologist, as I stated up above. Lots more appointments to come, and a lot of questions to be asked, but I never know what questions to ask. It’s always like an overload of different things being thrown at me, and I never fully understand any of it. I also have a genetics counselor and a lady who schedules my appointments and helps discuss things with me and answers any questions that I have. Along with my regular OB. All of these people I will see every four weeks until delivery (Besides NICU). It’s really amazing having such a good team of doctors who I trust and have faith in. I know it’s hard to establish care and trust in with doctors at times, but I am very confident with this team of people. I will be updating more along the way, but chances are my next post wont be until he is born (or if we find out something more). But being 28 weeks pregnant, I don’t have too long until he is here.

Stay tuned.

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