History and diagnosis

This blog marks a lot of firsts for me. My first time blogging. My first time sharing my thoughts with a large audience. My first time revealing that my son has Angelman's syndrome. 

I created this site so that friends and family can learn about Charlie's syndrome, and can stay updated as we embark on this long journey. 

OUR STORY:

As most of you know, I had a fairly normal pregnancy. I had a pretty common labor "horror story"- over 30 hours of laboring, resulting in an emergency c-section. But this sort of thing happens all the time, so I didn't really think much of it. 

Charlie was an awesome baby. He hardly cried, he slept pretty well right from the get-go (yes, as long as he had his pacifier), and he learned to smile and laugh right away. He hit most of his milestones right on target, until he was about 8/9 months. He was having a really hard time learning to sit up unassisted. He also didn't show any desire to learn to move on his own. He was content just to hang out, and crawling just didn't seem to be in the cards for him any time soon. Around this time, we also started noticing that Charlie didn't babble like a typical baby. He made noises, but they didn't seem directed at anything or anyone. He also didn't imitate. This was our first big red flag. I had always heard "babies are natural imitators". Being that this was my first child, I didn't realize how atypical his behavior was until we started socializing with other babies his age. 

When we moved back to New Jersey from Florida around his first birthday, we switched to a new pediatrician who was concerned about his development. He referred us to Early Intervention, and we were approved to begin therapy services soon after. I went into panic mode at this point. I started researching every possibility for his delays. I joined a website for parents with delayed kids. It was on this website that I found out about Angelman's syndrome. When I googled it (as I had googled every other possibility) I got really nervous. Here are the symptoms for Angelman's:

Developmental delay, functionally severe
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
Hypopigmented skin and eyes
Feeding problems during infancy
Attraction to/fascination with water
Strabismus

And the big one:

Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span 

The more research I did, the more sure I was that Charlie had this disorder. But because we weren't in a great place financially, it was a little longer before we could get the testing done. I think I was also in denial that he could have this. The odds are 1 in 30,000, for crying out loud! We don't have that kind of luck...

About 2 months ago, we had our first visit with the developmental pediatrician, who ordered a FISH test, which is a test used to determine if there is a deletion on the 15th chromosome. If there is a deletion, it is one of three things- a microdeletion, which doctors don't know much about, a larger deletion on the father's copy, which is Willi-Prader syndrome, and a larger deletion on the mother's copy, which is Angelman's. 
I got a phone call about 3 weeks after the first test, saying that they wanted to run more genetic tests, and they sent me a new lab order. On this lab order, written under diagnosis was "Abn. FISH", and they were ordering a methylation test, which is a closer look at the 15th chromosome. I completely freaked out. I had to call the doctor three separate times before she called me back and explained that yes, there was a deletion, and they wanted to run a more thorough test to see if it was Angelman's or Willi-Prader. 

This was my first moment of real despair. I was heartbroken. Never mind the fact that I had to track the doctor down, only to have her tell me over the phone that there was a deletion. This was the my first realization of the enormity of our situation.  I couldn't eat for days, I lost weight, and my work suffered. 

But life returned to normal, sort of. We went back and had more blood work done. I saw the doctor 3 weeks later- no test results. Finally, a few days ago, after getting home from work at 9 at night, I noticed there was a message on the answering machine from the doctor. Chuck and I listened, and this is how it went "Hi, this is Dr. _____. I just wanted to call and let you know that the test for Angelman's came back positive. If you need a copy of the results, call my office and we can send you a copy." 

Yep, that's it.

And just like that, our world was turned upside-down. 

The prognosis for Angelman's isn't great. Charlie probably won't walk before his third birthday. He may never talk, and if he does, he probably won't have more than 10 words. He will probably require lifelong care, and will be severely mentally disabled. Just typing that breaks my heart.

I'm still digesting this all, even as I write. Granted, it hasn't changed our everyday life. We will still have therapy 5 times a week, go to work, socialize with friends. But thinking about our long-term future is downright scary. 


So, that's that. I'll be updating this blog as much as I can, between the doctors' appointments, the therapy, and general craziness that is our life. 


Thanks for reading, and for taking part in this journey with us...