UpdatedAugust 14, 2020 · 3 minute read
Kim is “fighting like a mother” for a rare genetic disease that is so rare, it doesn’t yet have a name and is referred only by the gene it’s on.
By Catherine Cooke
Charlie, a super social little boy who will be three in November, has a big smile and a big heart. “He truly is this lovable force,” his mother, Kim, describes. But behind that smile is a battle no child – or parent – should ever have to face.
Charlie is living with a rare genetic disease that is so rare, it doesn’t yet have a name. The medical community often refers to the disease as “SLC6A1,” in reference to the mutated gene causing the symptoms, but there will be no official name until there is a cure. The SLC6A1 community has decided to reserve the name for the person who cures it.
When Charlie was around 4-5 months, he started having upper body tremors – the first warning that something was wrong. He stopped being able to use his hands and had abnormal staring spells. “He just stared right through you,” Kim reflects. “He was happy, and he smiled, but he wasn’t able to engage.” As Charlie was the second child, Kim and her husband knew that this felt different from their healthy first-born daughter.
That’s when the fight began. They often say that parents will do anything for their children, but rare disease parents are a particularly exceptional example of fighting until the end. Kim and her husband would not quit until they had an answer for their son.
Charlie’s doctors requested genetic testing several times, but insurance coverage was repeatedly denied. Kim’s frustration is apparent as she reflects on that time:
“It’s really heartbreaking. I just assumed if an expert is requesting genetic testing and there’s a reason, then we’d get it. Something’s not right with his brain. A neurologist agrees and requests it, yet insurance denies it, saying it’s not medically necessary. I was so upset and mad. What more would make this medically necessary?”
At the same time, Charlie was missing every milestone, and the tremors were getting worse.
When Charlie was 18 months old, Kim and her husband were able to change insurance providers and finally receive genetic testing at a rate they could afford.
At last, after a year of battling the medical system, they received the diagnostic call and were told virtually nothing was known by the medical community about the rare disease.
After all of their fighting, “to be told and know that there is no treatment, there is no cure, there is really just a general lack of research and understanding from a medical perspective, it’s the most devastating thing that could have happened.”
From there, Kim’s life changed forever. “It’s fear, it’s grief, it’s anger. His future was ripped away from us in this moment.”
On top of her full-time job, Kim helps fundraise for A Cure for Charlie and SLC6A1 Connect, both dedicated to funding research for a cure. She now feels, “I’m not just living with the disease for him. I can take action for something better. I’m not someone who has ever asked for help. I don’t do it in any other aspect of my life. But in this situation, I have no choice: ask for help or watch my son suffer.”
Another way Kim is taking action for her son is by joining AllStripes. The online platform, built specifically for rare disease patients, stores medical records in one centralized database and allows the de-identified data to be easily accessed by rare disease researchers. The organization is on the forefront of powering faster, better drug development for rare diseases.
“How do we have so many rare diseases out there, and the average rare disease patient doesn’t live to see their 5th birthday?,” Kim questions. “Research can change that! We can cure these diseases one by one, and I want to do my part to change that.”
Thanks to Kim and other rare disease parents who are “fighting like a mother,” that change is happening, and advancements are being made every day. If there’s nothing like a mother’s love, there’s certainly nothing like a mother’s fight!
If you are interested in contributing to SLC6A1 research from home, learn more at allstripes.com/SLC6A1.