Jake Sclater - An inspiration to us all!

 

Jake was born September 14, 2003 and everything seemed fine. As months went on, it became evident that he was not hitting his milestones. At nine months, he was still not able to push himself to a sitting position. Therefore, an MRI was taken and Jake was diagnosed with agenesis of the corpus callosum (ACC). Basically a major nerve cord in his brain never formed. Then, on his first birthday, genetic testing confirmed that Jake has Angelman Syndrome (AS)—a rare genetic disorder (a deletion in his 15th chromosome). What keeps the doctors guessing about Jake is that there is only one other documented case with the ACC/AS combination.  His geneticist and neurologist are in the process of writing a medical journal article for publication so that families will know of the possible combination. We feel that the missing corpus callosum may actually be helping him, a blessing in disguise. If you know of someone else with the combination, please let us know. Although the statistics seem bleak, he amazes us everyday and we remain hopeful that he will accomplish things once never thought possible for AS kids.

 

Now, at 6 years old, Jake is still a big and happy boy! He is now walking from point to point and we have great hope that he’ll be transitioning himself soon. He runs into everything, but loves exploring. He hasn’t figured out how to stop once he gets going, but forward movement is good.

 

As for speech, he can now say "ma ma ma" and "pa pa pa," but regardless, he definitely lets you know what he wants! We are focusing on using objects, and then pictures to communicate better. He has also recently been introduced to the touch screen on the computer. Long term, a communication device will be his best bet, which he is getting much better at using!

 

Jake receives four different therapies weekly and we recently attended Island Dolphin Care in Key Largo, FL in July 2009. This was his fourth dolphin-assisted therapy session.  It is an alternative therapy that is expensive and that is one of the main reasons why we started making the jewelry and having the golf tournaments. For more information on IDC, please check out their website at http://www.islanddolphincare.org/.

 

Below are pictures of Jake's family.  Mom (Michelle), Dad (Dustin) and little sister (Bailey).