Six-year-old Jacob doesn’t walk. He runs. He’s either climbing up or jumping off of something. He has devoted a lot of time to perfecting his Spiderman impression, and it shows.
“He is always on the go,” says Jacob’s mom, Rachel. “He’s so, so active.”
Jacob is also living with muscular dystrophy, a rare genetic disease that weakens muscles over time. But this won’t slow him down either.
With support from Connecticut Children’s, Jacob and his family are facing his diagnosis with hope — and activism…
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In 2021, a tumble off a scooter landed Jacob in the urgent care, and then Connecticut Children’s Emergency Department.
The scooter incident hadn’t been serious. But after it happened, Jacob’s urine turned alarmingly dark. At Connecticut Children’s, his blood tests showed why: He was experiencing muscle tissue breakdown, a condition called rhabdomyolysis. After a second brief hospital visit in less than two weeks, the Division of Neurology recommended genetic testing.
Soon after, division head Gyula Acsadi, MD, PhD, got in touch with Rachel. Jacob has limb-girdle muscular dystrophy (LGMD), type R3/2D.
Rachel and her husband, Josh, were stunned. Their family didn’t have any history of muscular dystrophy. And Jacob didn’t have any physical signs. He never complained of muscle aches or pains. He certainly hadn’t slowed down.
“We were truly blindsided,” says Rachel. “Dr. Acsadi made that difficult conversation easier.”
Rachel, Jacob's mom
“You just want answers. You want to know that somebody’s there for your child. Connecticut Children’s and the neurology team has always done that.”
What are the signs and symptoms of limb-girdle muscular dystrophy?
There are about 30 types of LGMD, each divided into smaller subtypes. Even within the same subtype, there can be big differences in how the disease affects each person over their life. Many people eventually lose the ability to walk and need a wheelchair. Others, with less severe conditions, can maintain a lot of their mobility, sometimes with the help of walking devices and special exercises. While there’s no treatment or cure for LGMD, there are experimental gene therapies being explored for a few types, including LGMD2D. But they aren’t available yet.
In the days following Jacob’s diagnosis, Rachel and Josh felt these uncertainties sink in. They took turns crying in a separate room so Jacob and his little brother, Andrew, wouldn’t worry.
Then they began to shift their focus: to what they did know, and what they could do.
Some people aren’t diagnosed with LGMD until later in life. Rachel describes Jacob’s early diagnosis as a blessing in disguise. “We’re grateful we learned about it now,” she says. “We’re ahead of the diagnosis for him.”
They also feel confident in his care team. In Rachel’s words, “We have Jacob with the best doctors.” She messages directly with Dr. Acsadi on MyChart. This direct line of communication — with the head of Neurology, no less — has always struck Rachel as above and beyond. Right now, Jacob doesn’t need physical or occupational therapy. The most important thing he and his parents need is information about the road ahead.
Natural history study for limb-girdle muscular dystrophy
Finally, they realized that Jacob could help the world understand LGMD, which is the fourth most common type of muscular dystrophy. With Dr. Acsadi’s support, they signed him up for a natural history study based in Ohio. Now, every six months, the family flies out to meet researchers who keep track of how Jacob’s doing, including with physical activities.
Knowing his love of Spiderman and the Avengers, Rachel and Josh first explained these trips to Jacob as Avengers Training Camp. It really is the work of superheroes: By participating, Jacob may speed up the development of LGMD gene therapy — which could help lots of other kids and adults with the disease. Earth’s mightiest heroes, indeed.
Raising awareness of limb-girdle muscular dystrophy
In the year since Jacob’s diagnosis, Rachel has found her own role to play in the LGMD community. She got the city of New Britain, Connecticut to light up its Beehive Bridge in green on Sep. 30, in recognition of LGMD Awareness Day. She began talking to other families about Jacob’s diagnosis. She connected with the LGMD2D Foundation, and now helps maintain their website, social media presence and patient advocacy outreach.
“As a parent, you’re going to do whatever you can for your child to have the best life they can have,” she says. “This helps me feel that I’m doing that.”
Their long-term goal is to raise awareness and money for more LGMD research. But they’ve already made an impact.
“People have reached out with similar stories about their children, thanking us for sharing our story and making them feel like they’re not alone,” Rachel says.
She knows the feeling. Amid the uncertainties of Jacob’s diagnosis, Connecticut Children’s has been a steady source of support — and hope.
And as Jacob grows, his family and care team will continue to remind him that his diagnosis is just one part of who he is. He’s also a golfer, a swimmer, a budding musician, and a kid who’s always itching to be outdoors. From Spiderman to sharks, who knows what he’ll fall in love with next. Connecticut Children’s will be right there with them.
Limb-girdle muscular dystrophy research and clinical trials
As research evolves for LGMD, Connecticut Children’s will give Jacob access to the most advanced treatments. “Dr. Acsadi is continually looking into new trials and treatments for LGMD, and keeping us updated with any resources,” says Rachel. “It’s reassuring that we have him as our advocate.”
“Everybody’s really helped a scary situation with comfort and care,” says Rachel. “The support from Connecticut Children’s has helped us with knowing that things will be OK.”