Angelman Syndrome… two words that have changed our lives forever. On August 25, 2015 we received a call from Hendrick’s neurologist and she explained that his genetic testing came back and it showed that Hendrick is missing the UBE3A gene on his 15th chromosome from the maternal side. This particular gene plays an important role in his development, both in what he will be able to do physically and cognitively.
Hendrick is the poster child for AS. 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.
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.
Hendrick is now 3 1/2 years old, he is able to crawl and sit without assistance, pull himself up to the kneeling & standing position unassisted, with maximum assistance he can actively take steps to a desired toy/location, he makes lots of noises and engages in playing with his toys and interacts with his peers/family and friends. As a family and Hendrick’s biggest fans we will continue to focus on his achievements and goals he reaches every step of the way. We know Hendrick is behind developmentally, but he doesn’t know that. We love him exactly the way he is.
Hendrick has been receiving Physical Therapy and Occupational Therapy since he was about 6 months old, he receives these two services 3x a week each. He also has a Special Instructor (teacher) that sees him 1x a month, a Speech Therapist that sees him 2x a week. He has a Nutritionist that monitors his weight and calorie intake that sees him 1x a week. We will not set any limitations for him. We have to believe there will be a day the three of us will walk together holding hands. We also hope and pray that he will be able to communicate with us using sign, a device or even better using words.
We have to plan for his future, Hendrick is going to live longer than us. We are in the process of building up his savings so we can move it over into a trust so he will be well taken care of when we are no longer able to care for him ourselves. We also want to help support the Angelman Foundation. Researchers have found a cure for this rare disorder and they have cured AS in mice. The Foundation for Angelman Syndrome Therapeutics (FAST) has helped fund the first clinical trial for individuals with AS that will be later this year. You have to be 18 to participate in the trial, but we are still so excited for the AS community. If it is successful, Hendrick will be able to receive the same treatment.