Local family grapples with 3-year-old’s muscular dystrophy diagnosis
Published 12:00 am Wednesday, April 27, 2022
RESERVE — Kyle and Sarah Faucheux watch as their 3-year-old son races children at the ballpark and struggles to keep up with their pace. It’s one of the subtle signs of Duchenne Muscular Dystrophy, a disorder that causes progressive muscle weakness.
There is no known cure for DMD, and the Faucheux family has leaned into the warm embrace of the community since receiving the devastating diagnosis last month.
Duchenne muscular dystrophy wasn’t even a blip on the Faucheux family’s radar until February 2022, just four weeks before Nash was officially diagnosed.
Nash was discovered to have a submucous cleft palate in 2021. After turning 3 and aging out of EarlySteps, he transitioned to physical and occupational therapy services once a week in Metairie.
It caught Sarah Faucheux off guard when the physical therapist told her to expect a call from a neurologist. The call came soon after, and the neurologist requested bloodwork to see if Nash needed to be in the muscular dystrophy clinic.
The only signs he showed of DMD were subtle — enlarged calves, a clumsy gait, and Gowers ‘sign.
“I really didn’t think anything of it because I didn’t know anything about muscular dystrophy. It wasn’t on our radar,” Faucheux said. “We got the blood work done, and we got a call from the neurologist saying his CKC levels were high, which is a sign for Duchenne muscular dystrophy.”
Doctors couldn’t confirm the diagnosis until a genetic test was completed. On March 24, Children’s Hospital pediatric neurologist Dr. Maria Weimer delivered the news.
“We had about four weeks from the time it was even mentioned to the diagnosis. That was a good and a bad thing because we had some time to process it, but at the same time we were researching all the scenarios, and it was kind of scary,” Faucheux said. “Within those four weeks, I was able to meet with two other moms who have DMD boys in St. Charles Parish. One is 15 years old at Hahnville, and there’s a little boy who’s 3. Those two moms have been such a big help to me. They made me feel that we’re not in this alone.”
There are many variations when it comes to Duchenne muscular dystrophy. Nash’s DMD involves a deletion on the Exon 45 chromosome. As of now, no treatments are available. The Faucheux family is praying that clinical trials will be approved for Nash’s deletion. Nash currently receives a high dose of steroids on the weekends and physical therapy once a week.
Since boys with DMD typically inherit the genetic condition from their mothers, Faucheux is in the process of getting tested to see if she is a carrier. Mothers who are carriers may also be at greater risk for heart problems in the future.
Nash’s 5-year-old brother, Landon, is not showing any signs of the disorder.
What brings his family the most comfort is knowing that Nash is as happy as can be and shows no signs of distress. Like most 3-year-old boys, he can be a little bit of a monster, but his dimpled smile can melt hearts in an instant.
Family and friends quickly stepped up to host benefit raffles and lunches in support of Nash. Instead of holding various smaller fundraisers, the community is coming together for one big fundraiser.
Riverlands Golf and Country Club is hosting a “Nash Bash” golf tournament on Friday, June 3 to assist with medical expenses. There will be a morning and an afternoon flight of golf, swimming for families, and multiple food and beverage options, and the night will end with a live auction and a DJ by the pool. The public is invited to help with the following: golf teams, drink donations, volunteers, sponsors, sweets donations, setup/cleanup, hole vendors, food/ingredient donations and auction items.
“The amount of people who want to help this little boy is unbelievable. It makes me feel so happy and thankful to have this community. I’ve seen our community step up in times of need, but to actually feel it when you need it is unlike anything I’ve ever experienced,” Faucheux said.
While the Faucheux family is still processing all that has happened in the past two months, they know their son is a fighter.
“This is going to be a day-by-day thing. A week-by-week thing. It’s something we will have to live with and just go through the steps,” Faucheux said. “He’s fine right now. Whenever he needs a wheelchair one day, we’ll make sure that happens. We will get him the best care and the best team we can get. With our family and our faith, we will figure it out.”