Charlie’s Journey
Donation protected
Hey everyone!
The last few months have been full of mixed emotions. Most of you know I’ve become an aunt to (and I might be biased) the most adorable baby boy I’ve ever seen in real life. But what you don’t know is that this seemingly perfect little boy has an incurable disorder called “Hunter Syndrome.” I’ve struggled with looking at him and thinking that a baby that looks this perfect couldn’t possibly have anything wrong with him, but the sad reality is that his life is going to be full of challenges and there is a possibility he won’t live past puberty.
So let me explain...What is Hunter Syndrome?
Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. The body doesn't have enough of the enzyme iduronate 2-sulfatase. This enzyme's job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts. The buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. There's no cure and the disease carries a life expectancy of about 7-15 years without any treatment which involves managing symptoms and complications.
Charlie will be undergoing a cord blood transplant. This procedure requires chemotherapy and 1-3 months inpatient at the hospital. Following his discharge from the hospital, Charlie will have multiple outpatient visits a week and he will be immune compromised for about a year. This procedure hasn’t been done much, but the doctors now believe it can be a very beneficial treatment if done within the first few months of life. Unfortunately, the results aren’t totally known and it is a dangerous procedure particularly due to the chemo and immune suppression.
Obviously, the hope is that Charlie will be cured, but if not, we hope this will at least slow the progression of his disease and will give him time for all the new gene therapy clinical trials to become FDA approved.
Charlie and his parents (my little brother Matt and his girlfriend Kristin) will be living at the hospital for at least 2 months, and will be frequently at the hospital for the months following that. He will be unable to be in public or attend daycare for about a year. He will have to be extremely careful about being exposed to any bacteria or illnesses. Meaning very few visits from family or friends, as those visits are a risk for immunity compromises. Matt and Kristin will be so involved in caring for him that they will be unable to work.
Our world has been turned upside down, and all other priorities have been pushed aside because this little boys life is more important than anything else. That being said, Matt and Kristin haven’t asked for any help but I can’t imagine at 25 and 27 years old being able to take care of a sick baby and hold my life together. My hope is that our friends and family can come together as a community to try and support them during this extremely trying time. There are so many people in this world that love them, and I know we can pull together to give Charlie a huge support system as we work on ways to cure him, and if that’s not possible, to love him and his family throughout the process, and give him the best life possible.
Anything helps, especially sharing his story on your page so we can help spread awareness about Hunter Syndrome, and help Charlie and other children like him fighting for their lives to find a cure.
The last few months have been full of mixed emotions. Most of you know I’ve become an aunt to (and I might be biased) the most adorable baby boy I’ve ever seen in real life. But what you don’t know is that this seemingly perfect little boy has an incurable disorder called “Hunter Syndrome.” I’ve struggled with looking at him and thinking that a baby that looks this perfect couldn’t possibly have anything wrong with him, but the sad reality is that his life is going to be full of challenges and there is a possibility he won’t live past puberty.
So let me explain...What is Hunter Syndrome?
Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. The body doesn't have enough of the enzyme iduronate 2-sulfatase. This enzyme's job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts. The buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. There's no cure and the disease carries a life expectancy of about 7-15 years without any treatment which involves managing symptoms and complications.
Charlie will be undergoing a cord blood transplant. This procedure requires chemotherapy and 1-3 months inpatient at the hospital. Following his discharge from the hospital, Charlie will have multiple outpatient visits a week and he will be immune compromised for about a year. This procedure hasn’t been done much, but the doctors now believe it can be a very beneficial treatment if done within the first few months of life. Unfortunately, the results aren’t totally known and it is a dangerous procedure particularly due to the chemo and immune suppression.
Obviously, the hope is that Charlie will be cured, but if not, we hope this will at least slow the progression of his disease and will give him time for all the new gene therapy clinical trials to become FDA approved.
Charlie and his parents (my little brother Matt and his girlfriend Kristin) will be living at the hospital for at least 2 months, and will be frequently at the hospital for the months following that. He will be unable to be in public or attend daycare for about a year. He will have to be extremely careful about being exposed to any bacteria or illnesses. Meaning very few visits from family or friends, as those visits are a risk for immunity compromises. Matt and Kristin will be so involved in caring for him that they will be unable to work.
Our world has been turned upside down, and all other priorities have been pushed aside because this little boys life is more important than anything else. That being said, Matt and Kristin haven’t asked for any help but I can’t imagine at 25 and 27 years old being able to take care of a sick baby and hold my life together. My hope is that our friends and family can come together as a community to try and support them during this extremely trying time. There are so many people in this world that love them, and I know we can pull together to give Charlie a huge support system as we work on ways to cure him, and if that’s not possible, to love him and his family throughout the process, and give him the best life possible.
Anything helps, especially sharing his story on your page so we can help spread awareness about Hunter Syndrome, and help Charlie and other children like him fighting for their lives to find a cure.
Organizer and beneficiary
Marissa McKay
Organizer
Portland, OR
Kristin Stockin
Beneficiary
