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Sunday, April 20, 2008

Walking to Raise Awareness for Angelman Syndrome

Dear Friends and Family,
As many of you know on May 1st 2006, our beautiful son Litte J was diagnosed with Angelman Syndrome. For those of you who don't know, 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 Joshua 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. This type is also generally not hereditary. With Princess J, although we had her tested, we had a 1% risk of her having it. The same as any other pregnancy in anyone. 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!

While this was not the journey we had planned for our family, we are so blessed to have Little J. His challenges make for a lot of work and effort on his and our part, but he is such a sweet joy to have around. He never ceases to amaze us with his progress, his abilities, and his determination to accomplish things. Currently Little J sees many amazing professionals to help with his care and progress. We cannot begin to thank these people enough. Dr. H. has been a godsend to us since Little J's birth and diagnosis. Her support and care for Little J and her direction to amazing other support professionals has been wonderful. She has directed us to others with great knowledge of Angelman Syndrome, and who are strong advocates for Little J and his needs.

Two years later, things are so different for us now. Little J is still the same amazing boy, but making so much more progress everyday. Today, we don't feel as devistated by his diagnosis, but blessed. This doesn't mean that days are not hard, or that some days we don't have a mini pity party for ourselves, or wish that he didn't have Angelman Syndrome, but we 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. We 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.

Little J has made much progress in the last year. He started school in December and loves it. He loves being around and interacting with the other children in his class. He is showing much progress in his physical capabilities. His therapists think he is well on his way to walking, it's just going to take a little more confidence and body awareness, but we are working on this daily. Little J has a high receptive vocabulary and definately understands what he's hearing. He is working on communication skills and will be evaluated for an augmented communication device soon. Simple tasks like turning on a light switch and such require much thought and concentration on his part, but he is doing it!

The reason I am writing you today, is on May 17th our family will be participating in the Angelman Syndrome walk-a-thon. The purpose of this walk is to raise awareness for Angelman Syndrome and to raise money for the Angelman Syndrome Foundation (ASF) which provides support for families as well as funding for research programs. Little J is currently participating in two studies at UC San Diego funded by the ASF. He is participating in a natural history study as well as a vitamin suppliment study. With awareness and money being raised, we hope to someday find a cure or treatment for those affected by this rare and not so well known syndrome. We are hoping that you will be able to support us in this endeavor. If you would like to donate, you can either go to Little J's walk-a-thon page and make an online donation or you can contact us to send a check. Your donation is tax deductable too!

We would also welcome anyone who would like to attend the walk with us. We have created Little J's team Team Punkypants and anyone who loves and supports Little J is welcome! Contact me for details.

We thank you in advance for your support.

Take Care,
Laurie, G, Little J and Princess J

2 comments:

Sandy said...

You are a fantastic mom! Just thought you should know!!!

emelyn said...

Love your team name! haha!!
I'm so happy for Josh...what a big boy and going through so much. Yet he is all smiles...what a sweetie!! Laurie, you are always in my thoughts and prayers! I miss you, girl!