Lately in Angelman Syndrome
From our guest blogger, Annie:
So, what’s new? Well in the last several weeks huge strides in AS awareness and treatment have been made.
My 3.5 year old Alex has been chosen to participate in a major behavioral study at Indiana University, which will look specifically at the behavioral issues associated with Angelman Syndrome that have long gone unnoticed under the shadow of Autism. There is an odd misnomer that Autism is the only developmental disability that involves serious behavioral problems like intense screaming, self harm, sleep disturbance, fecal smearing, etc. but it simply isn’t true. This misnomer has caused direct harm to Alex and other children like him, as they are refused insurance coverage for behavioral services that only children with autism have access to, even children far higher functioning than he is. This is why I have chosen to let him participate in the study. The more quantitative and qualitative proof they record of Alex’s behavior, the better off our entire community will be in terms of supports. Traveling with Alex is one seriously high stress situation, so we’re really hoping for some luck during our trip. He can’t eat anyone’s food, he can’t sleep with me in a bed in a hotel room, he has to sit at the front of the plane to avoid assaulting strangers… and he’s prone to crying and acting like a maniac from 12 pm to 8 pm, which kind of limits what we can do with him while we’re there. Ok… I can do this!
What else has been going on…. oh yes, trials are starting soon on a potential cure for Angelman Syndrome. While our whole family is excited about the prospect, we’re hesitant to get truly hopeful until we see how the first trial turns out. I also have some secret reservations around the subject. If he is “cured” of his disorder, what parts of him will change and what parts will stay the same? I love the mischievous glint in his eyes, his magnanimous smile, and contagious laugh, all considered to be “symptoms” of his disorder… what happens to them if he’s cured? It makes the buddhist upbringing in me laugh, as I worry about his “self” that I am so attached to dissolving under such a massive change in his brain function. Who is Alex, what part of him is his disability, and what is his personality? I love him just the way he is, but unlike Autism, where many high functioning individuals do not see being on the spectrum as something that needs curing, individuals with AS are not opposed to being cured at all. With AS there is a sense of being completely trapped, one’s body and mind work against you, making it difficult to make progress or function in daily life. I see Alex suffer every day as he is clearly bright and curious, yet he is trapped. His brain won’t work with his body, so he can’t walk or play tag with his friends, hold a pencil, or even drink from a cup. He is also non-verbal for life, yet filled with a passionate desire to communicate, and every time I don’t understand what he’s trying to say without the use of sign language or verbal language, he gets so angry. It is at those times that he will often become violent and hurt himself, because he doesn’t understand why he can’t just tell me what he wants me to know. I am very curious to see what the first participants of this drug study say as the first trial is completed.
Well that’s about it for right now. Life has been pretty crazy lately, but when is it not?
Hi! My name is Annie and I’m the proud mother of Alex. Alex is 3.5, he loves swimming, playdough, and hugs. Alex also has Angelman Syndrome (AS). AS is a rare genetic neurological disorder, marked by a lifetime of being non-verbal, severe ADHD, physical and intellectual disabilities, and a big smile! Life in our family is crazy, but we are happy and thriving. Visit my shop at www.etsy.com/shop/LittleLotusChildren You can also visit my blog at www.specialneedsmama.blogspot.com/