Charlie is the sweetest soul with a contagious laugh and a smile that melts hearts. When you are with her you enjoy all the little things in life. Charlie loves to laugh just because you are laughing, what is better than that?
On June 15, 2020 our lives were forever changed when a geneticist told us “your daughter has Angelman syndrome.” Our beautiful, happy, almost two-year-old daughter, Charlie was given an endless list of challenges she would face. One thing that doctors did not tell us is that Charlie would bring us more joy in the next few months, that she would break barriers and move mountains, all while melting our hearts and making each day brighter,
and more meaningful.
Angelman syndrome is the result of the loss of function of a single gene on the 15th chromosome. Charlie actually has the gene in her, but it is muted. That muted gene keeps her from being able to do simple tasks as easily as others. Pointing, clapping her hands, drinking from a straw, and standing up independently are all tasks that Charlie took longer to learn. Charlie’s inability to speak is due to a motor dysfunction, not a cognitive dysfunction.
Intensive therapies can significantly improve functional skills in children with AS. Charlie is currently receiving speech, feeding, occupational, physical, and ABA therapy. Charlie has shown amazing progress thanks to her incredible team. Charlie uses a talker (AAC device) to help her communicate vocally, although she has gotten very good at using signing and gestures to let us know what she wants and needs. We are so proud of the hard work Charlie has put int to get where she is today and we are forever grateful for our village!
To know Charlie is to love her. While she is a perfect little girl just the way she is, a lifetime of being non-verbal is going to be a big challenge. There are several therapeutics in the beginning stages of clinical trials that have shown results helping "angels" (children with AS) communicate. You can literally change our daughters life with your support, and by supporting our efforts to fundraise for FAST.
Thank you for taking the time to learn about Angelman syndrome, and our beautiful baby girl. We thank you for being a part of our life!
Charlie's Angels Chari-Tee Golf Tournament
Please join us on August 11, 2023, at Ramblewood Country Club in Mount Laurel, NJ, to support Charlie's Angels and the Foundation for Angelman Syndrome Therapeutics (FAST) to help find a cure for Angelman Syndrome.
Schedule of Events:
7:00 am: Registration
8:00 am: Shotgun Start
1:00 - 3:30: Lunch for non-golfers
3:00: Raffles, Auction & Awards announced
Closest to the Pin
1st & 2nd Place
Angelman Syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide. There are 4 different genotypes of AS. Charlie’s genotype is uniparental disomy (UPD), which accounts for 3-7% of those diagnosed. Our girl is rare within rare.
Typical characteristics of AS are not usually evident at birth. Individuals with this disorder may have feeding difficulties as infants and noticeable delayed development around 6-12 months of age. They need intensive therapies to help develop functional skills. AS affects every race and both genders.
Symptoms of AS include, but are not limited to: delayed developmental milestones, gross and fine motor impairment, difficulty with feeding and swallowing, loss of functional speech, and epilepsy. Other characteristics include a happy demeanor, characterized by frequent laughing, smiling and excitability. Angelman syndrome is often misdiagnosed as autism or cerebral palsy.
Individuals with AS require continuous care and are unable to live independently. They have a normal life expectancy. This is life today for people living with Angelman syndrome, but hope is here. Scientists believe that AS has the greatest potential for being cured when compared to other neurogenetic disorders.
FAST (Foundation for Angelman Syndrome Therapeutics) has a plan well underway to find a cure. It is their sole mission. This is why we have decided to partner with FAST on our Charlie’s Angels Chari-Tee Event on August 19, 2022. We hope you can join us!