Caroline has Angelman's Syndrome. As of the end of October 2017 she was 14 months old. After months of appointments with various medical professionals, genetic test results revealed that Caroline had a deletion in her 15th chromosome that is known as Angelman's Syndrome, which affects about 1 in every 15,000 children on average. My wife and I were deeply saddened and floored by this discovery. It was our worst fears come to life, as I'm sure it is for any parent who's child is found to have a disorder. We had never even heard of Angelman's Syndrom before Caroline's diagnosis.
Currently, Caroline receives weekly therapy from Easterseals to assist in her motor skill development. My wife and I work with her on her exercises on a daily basis. Currently at 2 years old, she can not crawl or walk and can not speak any real words, but she laughs constantly. Her best friend is a tiny pink giraffe WubbaNub (stuffed animal attached to a pacifier...a genius invention).
As parents, my wife and I feel it's our obligation to do as much we can to aid in finding a cure for our daughter and the thousands of other children with Angelman's Syndrome. It's because of this that we've decided to put together this GoFundMe campaign. The Foundation for Angelman's Syndrome Therapeutics's (FAST) Roadmap to a Cure for Angelman syndrome is bold, ambitious, and, with your help, achievable. The Roadmap costs an estimated $20 million dollars, and AS families have been challenged to raise $2 million of that investment, which will aid in pushing valuable research to the human clinical trial stage. Much of the current research being performed will provide benefits to children with other genetic disorders as well as for people with Angelmans Syndrome.
Words can not express how deeply appreciative we are of every donation and we ask that you please spread the word about Angelman's Syndrome, so that we can find a cure for Caroline and other children like her.
(Above picture: Caroline petting a cow for the first time.)
After reading about Angelman's Syndrome and the foundations involved in funding research to find a cure, we feel that the research being funded by the Foundation for Angelman Syndrome Therapeutics (FAST) , in collaboration with the University of Southern Florida, is extremely promising and it gives us hope that one day Caroline might be able live at least a semi-normal life.
Here is a link to the video that describes the research in more detail (see minute 16 of the video specifically):https://www.youtube.com/watch?v=vz7lYoxK9SA
Angelman's Syndrome Description
(taken from FAST's website)
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.
(Above picture: Caroline, 2 years old, sitting in a pumpkin patch.)
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