KC was born, a healthy, happy baby in May of 1999, but average infant milestone weren’t showing in his development. At 6 months old he still wasn’t trying to crawl, hated bearing weight on his feet and his arms were always out to his sides with his hands flat out. We pursued a developmental doctor that chalked it up to mild developmental delay and to watch his progression over the next few months. Months went by and no change in his development, but we did notice a lack control in his neck muscles, dropping his head down for a few seconds then right back up again. After consulting his Pediatrician, we were referred to a Neurologist who recognized those head dropping motions as “drop seizures”. He recommended an EEG which did come back abnormal for non-generalized seizures.
Kase was started in physical therapy and in-home therapy programs for leg and trunk strengthening, speech and occupational therapies. Eventually he was fitted for orthotic braces for ankle stability, where he was misdiagnosed with Cerebral Palsy. While in therapy, another mom approached me about KC’s diagnosis after watching him in group and asked if he’s ever been tested for Angelman syndrome. Not ever hearing of such a syndrome, I went home and did my research and as soon as I read the information on the AS site, I knew we were headed in the right direction. At age 3, KC had a diagnosis of Deletion positive Angelman syndrome. Meaning that as KC’s 15th chromosome was mutated during development into a fetus, causing him the set-backs we’ve dealt with over the last 13 years.
Angelman syndrome (AS) was named after Dr. Harry Angelman, who discovered the syndrome in 1965. Angelman syndrome is a neurodevelopment disorder similar to autism. There is no cure for the syndrome, which is genetic. Currently there are research programs trialing specific drugs that may lead to a cure for “Angels”.
Common characteristics of AS are developmental delay, lack of speech, delay with walking and crawling (some don’t ever walk on their own, like KC). But some of those traits are less agreeable, such as life-threatening seizures (if not properly treated). In spite of the set-backs, the best trait of all is an “Angels” smile. AS kids exhibit a happy demeanor from birth and can explode into laughter at any moment, a laugh that can lift the spirits in any room!
Only one third of infants who exhibit developmental delays were referred to early intervention specialists, indicating that the optimal or appropriate form of healthcare is not always provided or available. Statistics are more daunting for individuals with Angelman syndrome, which is a frustration to those parents looking for an answer.
It is estimate that 1/20,000 will be diagnosed per year or 13 babies to every 200,000 will be born with AS. Prior to obtaining proper diagnosis, nearly 50 percent of individuals with Angelman syndrome are incorrectly diagnosed with another disorder (like Cerebral Palsy), sometimes more than once, according to the Angelman Syndrome Foundation. Of those individuals, more than 70 percent had to wait at least a year to receive a proper diagnosis—and during that time, individuals are not receiving the essential treatments their condition requires. All it takes is a simple blood draw to check the genetics of the child’s chromosomes.
While school can be a challenge because of seizures and mobility issues, KC is now an 8th grader at Bowdish Middle School and is thriving. Angels are very social. They love to cuddle and snuggle with EVERYONE they mean, which at times can also be problematic to the unsuspecting receiver of such hugs. His Kisses usually are given in the form of a lick on the cheek and are very welcome at the end of a long day for his mom and dad. Although KC is in the 10% of AS kids that don’t walk on his own, he loves to walk with help and socialize. Where communicating is also a challenge, being non-verbal, KC is learning to communicate with voice commands via an IPAD program that speaks for him. But learning can be tedious for AS kids that exhibit short attention spans.
Angelman families worldwide are thrilled to announce that Feb. 15 is International Angelman Syndrome Awareness Day and to help fund FAST (Foundation for Angelman Syndrome Therapeutics). FAST (www.cureangelman.org) assists with funding research and human clinical trials that aide in the cure for Angelman’s. Angelman syndrome has made headlines with the support of the Vivint Give back project (http://vimeo.com/28921290 ) that presented FAST with a $250,000 grand prize for cure research. We learned that actor Colin Farrell’s son James, (http://youtu.be/8ui4SzW22rc ) was diagnosed with AS and Colin has become a generous supporter of awareness for Angelman families everywhere. The Angelman Syndrome Foundation site (www.angelman.org ) is also a great place to learn facts about AS and see pictures of the beautiful kiddos we have been blessed with. Thank you for showing your support.
