Raising Awareness and the Hardest Day Ever!

I don't even know where to begin with this story. I think I have typed stuff in and deleted it about 100 times already. Many of you who know me well, are very aware of everything that our family has been through in the last year as to you I am an open book and feel very comfortable sharing myself, my family and our struggles with you. It is because of the love that you have all shown to me, G, especially Little J and now our Princess J. It is because of you that I feel that I can share our story here now, publicly and hopefully raise some awareness.

At Little J's 12 month check up, I posed some concern to his pediatrician that he was not yet pulling up to try and stand or walk. She was not overly concerned, but felt that we should make an appointment with a developmental pediatrican (since it takes at least 3 months to get an appointment) just to be pro-active. On April 11th 2006, we went to that appointment. Little J was evaluated by a child psycologist and the developmental pediatrician. After the extensive examination and quite a bit of questions and answers she told me that she had a gut feeling about a diagnosis for Little J. She wasn't 100% sure and wanted to have some blood work done just to be sure. This was the first time I had ever heard of Angelman Syndrome. Before we left, she told me not to go online and start looking for information as she wasn't 100% sure at this point, but wanted to start with the easiest and least difficult test. I held out as long as I could. I typed those words into the computer and what I read devistated me. I was drowning in fear and felt like our entire life, future and dreams were being ripped out from underneath us. That night, I slept on the hardwood floor of Little J's room with just a pillow and a blanket crying my eyes out. At this point we still hadn't done the bloodwork and I put it off for a couple of weeks, fearing what the answer would be, but yet wanting to do the work to prove that my Little J did not have this disorder. I finally took little J down to get the bloodwork done and on May 1st 2006, we got that phone call. Our regular pediatrician's secretary called to tell us that our doctor would like to meet with us in her office. I imediately broke down in tears, for I knew deep in my gut that Little J now officially had Angelman Syndrome. I called G at work and told him that the doctor wanted to meet with us in her office, so he was on his way to meet us there. On May 1st, through tears, our pediatrican told us that Little J had Angelman Syndrome. I had so many things racing through my head, but I think the thing that sticks with me the most, is seeing my husband cry. He had his arm around me and was trying to comfort me, but he couldn't hold back his own tears.

For the next two weeks, things were up and down for both of us. Things I loved to do, I didn't want to do. I walked around in an almost robotic daze, just going through the motions of everyday life. The only thing that wasn't robotic was seeing, being with and taking care of our beautiful little boy. We jumped right in, getting him set up with appointments that his doctor felt were necessary, such as a genetic counselor, a neurologist, as well as getting him Early Intervention services. It was such a whilrwind.

Angelman Syndrome is a rare neurologically based genetic disorder. It is believed to occur in 1 in every 15,000 to 20,000 births. It is often misdiagnosed as Autism, Cerebral Palsy or other childhood disorders. There are a few diferent causes of this disorder. The type that Little J has in simplistic terms is that there is a small portion of his 15th chromosome missing. This is the most common type of this disorder with 70% of children having it in this manner. Some challenges faced by patients with Angelman Syndrome are developmental delay, profound speech impairment, movement and balance disorder, ataxia, short attention span, hyperactivity, sleep disturbance, and siezures. Little J has many of these symptoms, but not all of them. One symptom that many of the patients with AS have is a very happy demeanor. Little J definately has this! Thank goodness!

A year later, things are so different for us now. Little J is still the same amazing boy, but making so much more progress everyday. Today, I don't feel devistated by his diagnosis, but blessed. This doesn't mean that days are not hard, or that some days I don't have a mini pity party for myself, but I know in the grand scheme of things we are very blessed and lucky to have this little boy. He is an absolute joy to be around. I have never seen this kid wake up on the wrong side of the crib. If you need a smile, a hug or a big wet kiss, he has one for you. Little J makes friends with everyone anytime we go to the grocery store...or anywhere else for that matter. We have been so blessed to have so many wonderful doctors on his team. We also have been so lucky to have wonderful therapists working with him who are so invested in him and his progress and accomplishments. They have also been such great advocates for him and our family when dealing with the different programs that he is involved in.

I will also say here, that my faith in GOD has never been stronger. When we were first diagnosed, I know that HE was there to help us through that rough patch. HE put many people in our path that had just the right thing to say, or what we needed to hear at that moment. People who we didn't know very well reached out to us and shared their own stories with us. Our church reached out to us. I feel so blessed by all of this. I miss church right now.....might have to go early tomorrow with just Princess J. It is just to difficult right now to go on a regular basis with both kiddos while G is working on Sunday. I'm thankful to know that our church is working to revamp the childcare program to include children with special needs though. This warms my heart and I can't wait till the ball gets rolling with that and I can help!

Okay, now that you have read this big long post, I should get to the part about raising awareness. Kevin Bacon has founded Six Degrees.Org. Six Degrees, in partnership with the Network for Good and Hanes, Hanes will donate up to $10,000 to the top 10 badges charities! The top 10 badges are determined by the number of unique donations, not by the amount of the donation. A unique donation means getting different people to support your cause. They will be checking all of the donation records for each charity badge at the conclusion of the campaign; duplicate email address and credit card combinations will only be counted once, because they violate the spirit of Six Degrees. So please, no intentional gaming of the system or encouraging others to do so; efforts like this will jeopardize your eligibility. Past recipient charities are not eligible.

I hate asking for things, but I hope you will find it in your heart to donate! I would love to see this raise awareness of Angelman Syndrome as well as to support the Angelman Syndrome Foundation. They support many families with information, education and connections. They are also funding a lot of research! Little J will be participating in some research programs at UC San Diego later this year. I would love to see Little J's badge be one of the top 10!!!!

You can donate directly by using the badge you see on the sidebar of my blog. Just click the button that says "DONATE" All donations are handled and directed by the Network for Good.

Edited to add: Someone from another site sent me a question asking if Princess J was affected by this disorder as well. She is not. She was tested during my pregnancy and is negative for this disorder. The type that Little J has is generally not hereditary so there is not an increased risk of reoccurence. Our risk of having a child with AS was the same as every one else, about 1% risk.