A Mondovi family works to raise funds and awareness for rare genetic disorder research
- December 25, 2022
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MONDOVI, Wis. (WEAU) – One Mondovi family is working hard to help raise funds and awareness for research of a rare genetic disorder impacting one of their own.
Crosby Williams, 4, is living with creatine transporter deficiency. The beloved child’s health took a turn in the Summer of 2021.
“Crosby has CTD. Stands for creatine transportation disorder. His body produces creatine, but transporters in the brain don’t work so they can’t make it to his brain,” said Kayla Williams, the boy’s mother.
This condition comes with its challenges.
“He has seizures, so that’s a big thing. He takes medication for his seizures,” said Kayla.
Other symptoms include limited motor skills and a speech delay. Crosby is unable to speak.
ALONG WITH LIMITED MOTOR SKILLS… AND NOT BEING ABLE TO LEARN HOW TO SPEAK.
“He know what he wants but he can’t communicate that, so we know that sometimes that can create frustrations for him as well,” said Kayla.
Crosby is not the only one living with CTD, in fact there are at least 150 reported cases.
But what makes this genetic disorder tricky is how new and rare it is, it was first discovered in 2001. A misdiagnosis happens more often than not.
“We’re thankful for out pediatrician who pushed for genetic testing. That’s how they found the CTD for him,” said Kayla.
“So we’re trying to spread awareness on that. So it can get properly diagnosed and funding can get into the research,” said Sidney, who is Crosby’s father.
So far, working with the Association for Creatine Deficiencies, Team Crosby has raised $15,497.
“This summer we had what was called a Walk for Strength in August,” said Kayla.
This holiday season, they are working on a much bigger goal for researching.
“This Holiday Heroes is actually our big fundraiser that we’re working on. Right now, out goal is to raise for the association $250,000 so we can open a research center in 2023,” said Kayla.
“Since it’s newly diagnosed, there’s a lot of hope and promise in that,” said Sidney.
For now, the 4-year-old seems to be in good spirits.
“He’s really happy. He’s really social and overall we’re really blessed to have him,” said Sidney.
“So right now he’s happy and him and his brother play and fight and hug. He goes to school, and it’s wonderful. We just want more for him,” said Kayla. “We think about his future. We want him to hopefully be independent one day. And without a treatment or a cure, that’s just not possible.”
Until a cure or treatment can be found, a simple hello and some patience goes a long way for Crosby.
The Holiday Heroes fundraiser will be accepting donations until December 31st. You can donate here, multiple families in the community together will be matching donations up to $30,000.
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