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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?
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About Charlie

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, may never walk, speak, and would potentially develop seizures. We were told that she will never live alone, and she will need personalized care for the rest of her life. It was hard to breathe, let alone listen to a doctor go through the endless list of challenges our daughter will face. Our world stopped. Then we found FAST (Foundation for Angelman Syndrome Therapeutics), and suddenly it became easier to breathe again.

 

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 is taking 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. Charlie is currently receiving speech, feeding, occupational, physical, and ABA therapy. Charlie has already shown amazing progress thanks to her incredible team and has started using a talker to help her communicate. We are so proud of the hard work Charlie has put in and we are forever grateful for our village!

 

Charlie's Angels 

Chari-Tee Golf Tournament

Please join us on August 20, 2021 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. 

Register

Click here for event information & registration!

Sponsorship

Click to view sponsorship opportunities!

Silent Auction

Click here to check out our auction items!

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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. 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 20, 2021. We hope you can join us!

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