- Posted June 17, 2014 by
This iReport is part of an assignment:
Raising a special needs child
A Miracle Child
We found out that I was a carrier of a very rare genetic disorder called x linked hydrocephalus or L1 syndrome. Girls have a 50/50 chance of being a carrier, and boys have a 50/50 chance of being affected. If a boy is affected there is a block in the brains ventricles that doesn’t allow the fluid, that protects our brains, to drain properly. We knew early on, through ultrasounds, that our baby was a boy, and he was affected. We could see the head getting bigger and the brain ventricles getting bigger too. If the fluid doesn’t drain properly then it squeezes the brain against the skull. We knew our baby boy was going to have development issues and might even die. Our baby was not the first in my family to have this. I had a brother that died when he was 9 months old, and an uncle that lived for a few hours. We were so scared but knew that our situation was in God’s hands and we would love our son no matter what.
Also, I had a lot of issues with my nose being stuffy. I saw several doctors who all told me it was allergies. I persisted until I got one to really look at what was going on. That doctor saw that my thyroid was big. He wanted samples taken to find out if I had cancer. I got the diagnosis of having cancer when I was 34 week along.
Needless to say, I was stressed out. I had high blood pressure that I monitored every day. At 35 weeks I had an OB appointment. My doctor admitted me to the hospital for observation overnight. In the morning they said that my blood pressure had lowered but the baby’s heartbeat kept dropping. He was in trouble and needed to come out right away.
He spent almost 2 months in the Neo Natal Intensive care unit (NICU). He had a shunt (drain) put in his head when he was 5 days old to help drain the fluid out. When he finally came home he was still on oxygen, had a feeding tube in his nose, and was throwing up his formula all the time. That was the hardest time of my life. I barely got any sleep. I didn’t leave the house for 2 weeks. He needed constant monitoring. He ended up getting aspirated pneumonia and had to get admitted back into the hospital. He had his stomach twisted to prevent him from throwing up, and had a g-tube put in. He was in and out of the hospital for the first 6 months of his life, for different reasons.
Our son has been through so much but he will be 2 years old in July and he is doing really well. His club foot is fixed. He no longer needs oxygen during the day. He wears a bi-pap mask at night that has oxygen running through it. He still gets most of his nutrients through his g-tube but he is starting to eat small bites of baby food. His kidneys that were once filled with stones, are fixed and working properly. He has to wear braces on his thumbs to help stretch the tendons. He has a chair fitted to him where he sits and is supported. He has a device that helps him stand. Recently he had his first seizure that he now has medicine for. He has therapists that come to our house once a week to help with things. He has 16 doctors, therapists, and specialists that all look after him on a regular basis, not to mention all of the people in the hospital that know us all too well.
Life is not easy for our family. I was forced to quit my job to take care of our son. This puts a great strain on my husband to provide enough income to support our family. I have a lot of times when I don’t feel like I am good enough. I take a nap instead of doing some kind of therapy with our son. I ask for help more than some people think I should. We have to try and navigate the SSI system. Our life is a constant balancing act that never seems to actually be balanced. We do however; take joy in the little things in life. Watching our son do things that no one ever thought he would do bring tears to my eyes. He is our miracle that we never thought we would have. He helped find my cancer and saved my life. He has lived longer than ever expected. He brings a smile everywhere he goes.
We have searched for another family that has been affected by this and can’t find one. I am trying to get our story out to as many people as possible in hopes of finding anyone else affected by this disorder. I have started a blog http://xlinked1.blogspot.com and a Facebook page facebook.com/xlinked1 to help tell our story. Please pass this along to help in our search to find another family dealing with this.
- My life