Charlie's positive, can-do attitude is infectious and all of our kids absolutely love her!
~Charlie's Pre-School Teacher
Our Story
On June 15, 2020 a geneticist told us “your daughter has Angelman syndrome.” Charlie, our beautiful, happy, almost two-year-old daughter 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 melt our hearts while making each day brighter, and more meaningful.
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The diagnosis day is such a crushing day to families, as all of your hopes and dreams for your child come crashing down. But for Charlie, this is the day where we could finally learn more about her. Having a diagnosis meant that we could support her and lean into a community for guidance. As Charlie's mom I like to change the narrative that June 15th is when we truly learned who Charlie was. Charlie loves to laugh, play with other kids, dance, swim and she loves Taylor Swift. Charlie lives with Angelman syndrome.
Angelman syndrome is the result of the loss of function of a gene on the 15th chromosome, UBE3A. 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. Walking, feeding herself and going up stairs independently are all tasks that Charlie took longer to learn. She is still working on many basic life skills to help her lead a more independent life. Charlie’s inability to speak is due to a motor dysfunction, not a cognitive dysfunction.
Intensive therapies and a village of supportive teachers and staff have helped Charlie become more independent. But she still needs us to help with everyday activities that most kids can be completely independent with. We are confident that Charlie will live a fulfilling life, but she will need help every single day.
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In the Fall of 2023 Charlie started having seizures. Most people who live with Angelman syndrome have Epilepsy but there are some who don't. Unfortunately, Charlie is one of those who have to deal with seizures and it has been a very rough road. We are still working through medications and therapies to help stop her from having breakthroughs, but it has not come easy and it is taking away from Charlie's progress.
Charlie and all kids who live with Angelman syndrome don't speak which makes supporting her daily needs and medical issues very challenging.. Charlie uses a talker (AAC device) to help her communicate, 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 in to get where she is today and we are forever grateful for our village!
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Charlie is also in an inclusion class in the Mount Laurel School District. She learns alongside her neuro typical peers and absolutely loves going to school every day!
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There are several therapeutics in the beginning stages of clinical trials that have shown results helping people with AS improve their daily life. You can literally change our daughters life with your support, and by supporting our efforts to fundraise for FAST.
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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
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Please join us on Friday, June 6th, 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:
1:00 pm: Registration
2:00 pm: Shotgun Start
6:00 pm: Happy Hour
7:00 pm: Dinner
8:00 pm: Raffles, Auction & Awards announced
Activities:
Closest to the Pin
Longest Drive
1st & 2nd Place
50/50
Raffles
Silent Auction
About Angelman
Raising Awareness
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. Charlie is rare within rare.
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Typical characteristics of Angelman syndrome are not usually evident at birth. Individuals with AS 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. Angelman syndrome 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 16, 2024. We hope you can join us!
