“The Toddler that Doesn’t Toddle:” Raising a Child with Spinal Muscular Atrophy

 

As initially covered by MyLondon News, the family of a London boy with spinal muscular atrophy (SMA) is looking to advocate for others with this genetic disorder. Additionally, they are seeking to crowdfund to provide their son Bran Jones, 2, with the best adaptive equipment. In particular, they are looking to source a standing frame, physiotherapy assistance, and additional items as he grows. Take a look at the GoFundMe here. 

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare genetic disorder causing muscle degeneration. The disorder is caused by a mutation in the SMN1 gene, which reduces motor neurons and impacts muscle growth. People with SMA may experience issues with walking, sitting up, head movement, and breathing. However, these symptoms differ based on the type of SMA.

There are four types of SMA. The first, Werdnig-Hoffman disease, is severe and often diagnosed around the time of birth. Type I SMA can cause breathing issues, developmental delays, and an inability to support the head. Next, type II SMA impacts children between 6-12 months old. Those with type II SMA cannot walk or stand independently.

Third is type III SMA, also known as Kugelberg-Welander syndrome. Symptoms of type III SMA can appear anywhere in childhood or adolescence. As a result, those with Type III SMA may have difficulty walking or climbing, which gets worse with age.

Finally, type IV SMA is diagnosed in adulthood after the age of 30. Those with type IV SMA may experience tremors, muscle weakness, and problems with breathing.

There is no cure for any type of SMA, but supportive care is available. This include respiratory support, physical therapy, and the type of bracing and adaptive equipment that Bran’s family is seeking. You can check out our website for more information on spinal muscular atrophy. 

Bran’s Story

Coined “the toddler that doesn’t toddle” by his brother Brian, 2-year-old Bran Jones was diagnosed with type II spinal muscular atrophy in summer 2019. This toddler is described as cheeky and bright, with a genuine love for dinosaurs and Pokemon.

His mother Sophia states that Bran started losing muscle strength when he was ten months old. She says:

“He was so strong, and then he couldn’t even sit up. We knew then something was wrong.”

However, it took the Jones family seven additional months to receive a diagnosis. Bran cannot walk, crawl, or use the ends of his arms. His mother notes that Bran also experiences some of the respiratory effects of his condition, so they use a cough assist machine and nebulizer daily.

The Costs of SMA

Bran’s therapy bench cost £480, or $598. It will cost £27,000, or approximately $33,000, to do work on the family home so that Bran can use his Wizzybug wheelchair to get around. £5,000, or approximately $6,179, will go towards a new standing frame. This piece of equipment is especially important, as it will not only assist with mobility but will allow Bran to reduce muscle weakness or degeneration in his legs.

The Jones family also hopes to one day try Spinraza, a therapeutic treatment that has shown to help children with SMA improve motor and limb function. Learn more about Spinraza here.

As many people in the rare disease or disorder community know, it can be difficult understanding exactly what is needed to aid you or your family members. Getting diagnosed can be a lengthy trip, but so can getting the proper adaptive equipment and education.

Right now, the Jones family doesn’t know anyone else with SMA, but hopes to widen the community so that families and others with SMA can get together and learn from each other.

If you want to donate to Bran’s GoFundMe, you can find all of the information here!


Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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