It's been about a month since we learned our wonderful (almost 1 year old!) Rhys is an "angel." Since then, I've been studying and reading everything on the internet about Angelman Syndrome or AS. (Rob has lifted the Google ban…I think.)
It wasn't long before my trusty Google Search brought me to the marvel of a man named Dr. Weeber, who along with his colleges at Vanderbilt, have successfully reversed the neurological deficits in mice infected with AS.
The more I read the more hope I have. He remains very focused on the CamK2 molecule as a very significant one in the brain. This team is now trying to turn on the UBE3A gene, which is a protein as well. To activate, or turn-on that gene, they are injecting viral vectors so that it can start working again. Obtaining control of this UBE3A gene is key to successfully finding a cure for AS. (Cousin Paul…can you translate to layman’s terms for me over Thanksgiving dinner?)
Interestingly, UBE3A also plays a big role in other more prevalent conditions like Rett Syndrome and autism. 80% of all autistic children have a gene duplication of this gene, while Rett Syndrome patients tend to be missing it.
While Dr. Weeber is often approached by pharmaceutical firms who want to partner with him, he benefits by remaining autonomous. These firms are very motivated to find a "treatment" for AS finding a "cure" is not quite as lucrative for them. For that reason, Dr. Weeber uses government grants, and has benefited greatly from the administrations stimulus package. He is an honorable man with honorable intentions to find us a cure!
His research shows that the cause of lack of speech in AS patients is due to the fact that the imprinting is happening deep in the brain's speech centers. In hopes of correcting this symptom of AS, there is a clinical trial starting now in Boston which will explore the use of a drug called Levadopa, as a way to stimulate speech. This drug is typically used to improve muscle tone in Parkinson's patients.
So the question most on my mind... does he really believes a cure is possible for those like my sweet Rhys, who is already 1?
Of course! He explains it like this: Rett Syndrome produces a protein that effects how numerous other proteins in the body are made. In all, there are 30,000 proteins out there (who knew?). So, in the case of Rett's, it is a very extensive process to address each and every one. The great news for us, is that scientists already know the genetic cause for AS and it is identified in only one molecule - CamK2. So, when he can fix that one molecule, he will truly be able to offer us the miracle of a cure. Yippee!!
We are thrilled about his reversal success with mice, but what about humans? How soon can we expect clinical trials on people? More good news here. Dr. Weeber is starting to pursue pharmacological substances which are already FDA approved. What does this mean? It means that once he finds the right mix, he can go right into clinical trials and use people, and he doesn't think it is too far out.
So why am I rambling and wasting your perfectly precious time? First, because I know many of you (like me) are still struggling to fully understand this syndrome that little Rhyser has. Second, because it takes a village to raise a child and a village to raise awareness of AS. The more we know the more we can help, right?
I feel elated when I read the progress that is being made towards a solution for AS. We couldn't have a nicer, more dedicated man in our corner. I am so excited, because Dr. Weeber will be the keynote speaker at the 2011 ASF Biennial Conference in Salt Lake City in July 2011. You can bet I will be there for that.
Thanks for letting me ramble. It helps me to pass information along. It helps me to know that someone is doing something to help these precious kids. It gives our family hope…
On a side note, Rhys has had his helmet for a week now. (For his flat head, completely unrelated to Angleman’s…he is just lucky!) The good news is that he seems to be getting used to it, and it has saved the noggin in several Bodie related accidents!
That is some great news. I hope that him and his team figure something out to progress further into finding a cure. We will see you guys next week for the big #1.
ReplyDeleteDido Brians comments I am soo excited to hear that someone id ready working on this, We will all try an make this happen. Love Mom and Dad
ReplyDeleteThis is awesome news! Science is amazing. If my friend is still in Salt Lake next July you can crash at her place. What an great trip...discovering a cure and maybe a little IKEA shopping along the way ;) Can't wait to see you all on mon.
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