‘I Decided to Fight Like a Mother’

By

Catherine Cooke

Aug 14, 2020 • 3 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

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 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.

For now, there is no cure and only a nickname.

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.”

But she knew the fight wasn’t over. “I decided to fight like a mother.”

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!

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.