So my fiend Lisa Kness contacted me with this awesome idea for raising awareness and funds for Angelman Syndrome. She is taking part in a race and has decided that their theme will be "I CAN (Cure Angelman's Now)". The hope is that this turn into a nationwide event for International Angelman Syndrome Day (IAD) on Feb 15th. She has also decided to donate on behalf of her very special little friend Brady. We met Mrs. Lisa just after our son Brady was diagnosed with Angelman Syndrome...we were blessed to have her as his Speech Therapist. We were reeling from the life changing news and she became a fresh breath if sir for us. She fought a difficult battle of teaching Brady how to communicate, as well as teaching me how to help him with communication at home. During the time that she worked with us, Brady was dealing with terrible seizures, that really knocked him back every time we learned something new; however, she never gave up on Brady. She believed in him and pushed him to do what she always knew he could. We learned a lot about communication from Mrs. Lisa but most importantly, she taught us to never give up hope and to always believe in our boy....never to sell him short. We became close friends through the years and even though she is in Alaska, while I'm in Alabama, she is one of our biggest supports and dearest friends.
Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. The seizure disorder in individuals with Angelman Syndrome can be difficult to treat. Feeding disorders in infancy are common, and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with Angelman Syndrome. AS affects all races and both genders equally.
Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability. Many individuals with Angelman Syndrome are attracted to water and take great pleasure in activities like swimming and bathing.
People living with AS require life-long care, intense therapies to help develop functional skills and improve their quality of life, and close medical supervision often involving multiple medical interventions. Angelman Syndrome may be misdiagnosed since other syndromes have similar characteristics.
Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of Ube3a prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored. This syndrome HAS been cured in a mouse model and we have potential treatments waiting to go to clinical trials...we just need funding to get us there.
To learn more about Angelman Syndrome or to donate, please go to Foundation for Angelman Syndrome (F.A.S.T.) Therapeutics at www.CureAngelman.org We support these guys because they are nonprofit and 100% of funds go straight to research for those with Angelman Syndrome.
Also, to learn more about Mr. Brady, you can go to www.sweetsweetangels.blogspot.com
Thank you all for your support! #cureangelman |
It's time to plan our 2nd Annual I CAN 1/2 marathon/10k/5k. This year we celebrate, I Believe therefore I CAN! <3