It has been awhile since I have given an update on Shane. I kept thinking that when there was a lull in doctor appointments that I would give an update. But truthfully, there will never be a lull in doctor appointments. Since it has been awhile, I apologize if this update is long.
So about 5 weeks ago, Shane had another sedated MRI. His neurosurgeon had ordered the MRI since Shane was still significantly delayed. As you may remember, Shane has been diagnosed with Chiari (Arnold–Chiari malformation type 1) and Hydrocephalus. His concern was that maybe one of these conditions had worsened and was contributing to him being delayed. While he was sedated, they pulled some blood to check for certain genetic disorders.
http://www.conquerchiari.org/pediatric/pediatric-index.html (more info on Chiari here)
His MRI looked good and no changes were seen from his previous MRIs. So once again, no surgery for Shane! He still has a mild case of Hydrocephalus and he will have CHiari for life. There is no cure for Chiari so it is something that will continue to be monitored.
Shane has been having sleeping issues for the past couple of months. Some nights it is very hard to get him to sleep and most nights he wakes up during the middle of the night.When he wakes up in the middle of the night, he is not upset and does not need anything. He just wakes up and is wide awake. We only know he is awake because we can hear him talking and playing in his room. He is currently on melatonin but even that sometimes does not help. Sometimes I just have lay with him until he falls back asleep. As you can imagine it is very frustrating to come from work at midnight and see him standing in the window waving at me. Momma needs sleep! Since insomnia and sleep apnea are very common with Chiari, Shane had another sleep study done about 1 week ago. You may remember that he had one done about 2 years ago and that one was normal. I have to say that this sleep study went better than last time but there was still very little sleep. He didn't go to sleep till about 9:30pm and woke up around 2am which is his usually time to wake in the middle of the night. I gave him a dose of melatonin and went back to sleep. At 6am they wake you and send you on your way. Those results take about 6 weeks so when we see the pulmonologist in about 5 weeks we will get those results.
Friday I got a call from the genetic consular about Shane's genetic blood work. Shane has Gorlin Syndrome. What is that you ask? Well, go google it cause that is what I did. I'll wait .............................................................................................................................Did you look it up? Well, now you know as much as I do. So here is what I know from my research of different sites and from talking about it with people on the Gorlin support group. Gorlin syndrome is also known as Nevoid Basal Cell Carcinoma Syndrome or NBCCS. It is a genetic condition which means he probably got it from one of us though it is possible to have a spontaneous mutation. 90% of people who have this condition have basal cell cancers and jaw cysts. there is a 5% chance of children with this condition to develop a type of brain cancer called medulloblastoma. So what does this all mean for Shane????? Well, we are meeting with the genetic consular later this month to talk about that. We will need to be very proactive with protecting his skin so he needs sunscreen when he goes outside. He will need yearly dental x-rays done to check for jaw cysts starting at the age of 8 and yearly exams to check for basal cell skin cancer. Since this is a genetic condition he has up to a 50% chance of having children with this condition. This condition is considered rare, about 1 in 40,000 people have NBCCS. As you can imagine, getting this news was hard.
But there is a bright side to this. We know what he has and what to keep an eye on for the future. We are better prepared!God has a special plan for him. Everyone who is near him just adores him. Wherever we go, people are drawn to him. They come up to him at the grocery store. His smile is contagious! I took him to my women's group with me and the women fell in love with him. Its amazing to watch how people respond to him. I know that no matter what, God is with us and He has a special plan for Shane. Even with all these issues and doctor appointments, I am honored to be his mom. I am honored that God chose me to be Shane's mom. This diagnosis was not what we had wanted to hear but we will continue to fight and learn. Each day is a new day and we will never give up. God has been faithful to us and He will continue to be faithful. With God by our side and your support, there is nothing that cant be accomplished! I just want to thank you all for your support and prayers. It means the world to me. As I learn more, I will share as well. This condition is new to us and foreign. I have more questions than answers, But I know we can get through this. With God anything is possible!
P.S. I wrote this at 1am so I apologize for any grammar mistakes. I wrote this after I got home from work. Its the only time I have quiet time to myself :)