Charlie turned 3 in November 2020. He was diagnosed with a rare neurological disease in August 2019—so rare it is referred to only by its genetic location, SLC6A1. With this disease comes learning delays, neurological problems, as well as seizures and tremors. Despite the amount of research going on behind this genetic disease, it is often mistakenly diagnosed as autism.
This was something I knew nothing about until I met with Kim, a sweet mother yearning to tell me the story of her son on a cold but sunny afternoon. This is a story of a mother who is desperate for other mothers to hear her cry for help. To not only envision Charlie as their own child, but to rise up and take action to support a child in their city.
Looking for answers: SLC6A1
If Charlie has only just turned 3 and SLC6A1 is so rare (as of 2017, there were only 50 known cases in the world), how did Kim learn of her son’s diagnosis?
When Charlie was 4 months old, she and her husband noticed that he was having some sort of tremor. They took him in for an MRI between 6-9 months old. At 9 months, he couldn’t use his hands and wasn’t meeting certain milestones. “My gut knew,” Kim said. The pediatrician recommended that Missouri First Steps come evaluate Charlie, they do screenings for children between 0-3 years old. He failed this screening.
They went to OT once a week, so Charlie could learn how to use his hands. Thank goodness they caught it early. But something was still not right. A spinal tap at 15 months showed normal results. So, a genetic test was the only thing that could give answers. The out-of-pocket cost was $5,000 for this test. Kim’s husband had a new job with new insurance. Thank goodness it was approved.
“I got a call on a Thursday afternoon and the genetic counselor dumped it all on me,” said Kim. She told her that a nurse practitioner actually found this rare disease called SLC6A1 in 2015, but it was added to the genetic testing panel in 2017. It’s a very newly discovered disease. And Charlie was tested in 2019.
“You realize the gravity of all of it.”
Kim cried for a few days. She didn’t understand. He was born healthy. This type of diagnosis was totally not on her radar. It was then that she decided that fight or flight—”I’m all in.”
Kim and her husband started where anyone might start. They googled clinical trials for SLC6A1. She found one person in Denver who had a son with the same diagnosis who is 6 months older than Charlie. They connected and banded together to keep fighting for their sweet babies!
The biggest challenge they face is to raise enough money to move from lab testing in mice to clinical testing trials in humans. There needs to be a minimum of $4 million to move to that stage.
Kim got the call from the genetic counselor in August and wrote a Facebook post in September to announce to the world what she had fought hard to discover about her sweet Charlie. “It was the most vulnerable thing I’ve ever done,” she said. When she did this, she was able to raise about $10,000 in a week.
She flew to Dallas before COVID to talk to a specialist who had actually seen a handful of people with this disease. They discovered that an EEG could be a biomarker to detect this in the future. Science is showing that it is possible for this to be a reality.
So what’s next? Fundraising.
Lots of fundraising and raising awareness on as many platforms and to as many networks as possible.
A mother’s heart will never tire. It will never quit. She believes a cure is there. It can be there if she fights hard enough. If enough people can get on board, band together and help find #ACureforCharlie.
Kim set a goal to have one event a month. Sure, COVID-19 tried hard to diminish those plans, but despite the virus as a roadblock, she’s determined to wipe this disease off the map. So that no other baby has to struggle. Her goal is to make it mandatory for every baby to be tested for this in the hospital—if they have the gene mutation, there’s gene replacement therapy that can help. So babies would never have a seizure and never develop the long term effects that those seizures can have on the brain.
At the end of my interview with Kim, I asked her if there was anything else she wanted me to know about being a momma going through this hard time and if she had any advice to offer.
“Becoming aware that this is something that could ruin our marriage. My husband and I process things very differently. Hope for the best, but don’t let it consume you. I like to talk through my pain and sometimes he doesn’t want to. Being a parent is so scary—especially when your biggest fear comes true.”
“Trust your gut. I always knew something wasn’t quite right. And it’s really important to find a medical team that listens to you and doesn’t make you feel crazy.”
Opportunities to Help
Be sure to check out their latest fundraiser with KC JOY PROJECT, an online joyfully crafted boutique that makes custom bracelets. KC JOY PROJECT resides in KC, so everything is handmade here in our city! On January 19th, KC Joy Project will release a benefit bracelet, where a portion of all proceeds will go toward the A Cure for Charlie organization. The bracelet will be available in a few different variations.
On January 22nd, join the fun with New Year Mules & Bingo! You don’t have to worry about being socially distanced because the event is being held online. Simply sign up, snag your cocktail kit and bingo cards, and join in on the fun!
Interested in donating to support #ACureforCharlie? Be sure to visit https://acureforcharlie.org/ for more details.
Featured photo credit: Annie Flurry