SPOKANE, Wash. — In the spring of 2023, the Bufus family learned that their sons, Mason and Jack, were both diagnosed with a rare genetic disease, Duchenne Muscular Dystrophy (DMD).
DMD is one of the most severe forms of inherited muscular dystrophy. At this time, the disease is non-curable and it’s fatal.
The disease is characterized by progressive muscle degeneration and weakness due to mutations of a dystrophin protein that helps keep muscle cells intact.
Mason, the eldest son, was receiving brain surgery for a separate condition in the spring. The neurologist did a genetic test, which returned positive for DMD.
Parents Jada and Bryan Bufus tested Jack out of precaution, and his test also came back positive.
“After all that, I tested positive to be a carrier, as well. So, I’m at risk with heart problems and just some higher health risks. But not as severe as their disease,” Jada Bufus said.
Currently, muscle weakness is the only thing affecting the boys. But the life expectancy for men with DMD is 27 years, and they will become wheel-chair bound in their early teens.
The family applied for a gene therapy treatment that the FDA recently approved.
“It would help him [Mason] more or less…. not lose muscle…and give him the ability to walk longer,” Bryan Bufus said.
Mason’s application is pending, but Jack’s was flat-out denied.
“The reasoning for their denials is that it’s ‘not medically necessary’ as of right now. So, that’s where those appeals and fights come in. We’ll just keep fighting until they deem it necessary for their little bodies.
Jada had to quit her job in order to provide full-time care for the boys.
The boys’ medical expenses are also high, so, the family created a GoFundMe page to handle the costs.
To donate, visit the GoFundMe website.
