Charlie

Charlie's Story

Charlie is a special little guy. He loves to play with his friends at school, enjoys any activity that involves water, has the most adventurous appreciation for food, and soaks up the sunshine the moment he steps outside. He is always smiling and giggling because he has the best sense of humor. His silly personality is one to be remembered!

Charlie was diagnosed with Hunter syndrome before he was even born. His maternal uncle, Zachary, had Hunter syndrome which allowed for prenatal genetic testing. Thanks to early diagnosis, Charlie was able to begin enzyme replacement therapy at 30 days and received a stem cell transplant at 4 months old. While Charlie's transplant has been successful, keeping many Hunter syndrome symptoms at bay, he suffered complications from this very brutal treatment. At 5 months old, his heart stopped for over 30 minutes during a surgery. This resulted in a severe hypoxic brain injury which caused cerebral palsy, cortical vision impairment, and global development delay. Charlie has been a true fighter through it all. At almost 5 years old, he is finally starting to sit up on his own, walk in a gait trainer, feeding himself with more precision, can see much better, and is showing that he understands more words than ever before. While he still has a long way to go, we are hopeful that one day he will begin to walk on his own, gain more words, and become more independent. 

But as a bereaved sister, I know all too well the devastating progression of Hunter syndrome. I watched my beautiful little brother rapidly lose skills as the neurological affects of Hunter syndrome took place. We don't know how well his stem cell transplant will keep these neurological symptoms at bay. There isn't enough data available for long term outcomes for Hunter syndrome patients transplanted in infancy. We know that Charlie needs a drug that will directly deliver the enzyme he is missing to his brain so that he does not suffer brain damage from Hunter syndrome as he attempts to recover from his hypoxic brain injury. We also don't want any other parents to have to make that unthinkable decision to choose transplant for treatment. It's painful, life threatening, and terrifying. We need a safe and effective treatment for Hunter syndrome because our kids deserve to have a chance to grow up. 

We hope that you will join us in supporting Project Alive's efforts to fund research, advocate for change, and provide invaluable resources to the Hunter syndrome community. Your support can help us save and change lives.