One 20-Year-Old’s Determination to Change His Journey with a Rare, Debilitating Disease
Posted: November 22, 2019 | Word Count: 941
Imagine your body wasn’t able to control your muscles, and over time you experienced more weakness and a loss of strength. That's what was happening to William Johnson, now a college sophomore living with a rare disease — called spinal muscular atrophy, or SMA. Three years ago, advances in science helped change the treatment options for people with SMA.
Heidi and Tripp Johnson, William’s parents, first started to notice differences between his development and their other two children shortly after he was born. At the check-up for his first birthday, a neurologist performed an exam and diagnosed William with Type 2 SMA. At the time, there were no treatment options available and doctors explained to the Johnsons that William likely wouldn’t live beyond his 10th birthday. The reality for the Johnson family would thankfully turn out to be very different.
“When we got the diagnosis, we were devastated. We knew that William’s life was going to be different, but as parents, we were going to do all we could to never let him feel like SMA defined him,” Heidi says.
SMA, is a debilitating disease that affects approximately 9,000 people in the U.S. In its most severe form, the symptoms start right after birth and can be life-threatening. There are other forms of SMA where symptoms start anywhere from childhood to adulthood and have different degrees of severity. While the specific type of SMA and the severity of motor function decline may vary among individuals, everyone with SMA experiences progressive muscle weakness.
Growing up, William coped with his disease and moved forward with his life, even though his mobility was limited. He relied on a power wheelchair to help him get around. Each birthday marked another year of achievement for the Johnson family, and while William celebrated his 10th birthday, the family also noticed that he was losing strength.
In December 2016, when the Johnsons heard the news that the first treatment for SMA, SPINRAZA® (nusinersen), had been approved to treat infants, children and adults with SMA, they were determined to start treatment as soon as possible.
Shortly after his high school graduation, William received his first dose of the therapy, with a goal to help maintain his motor functions. “It was the moment we had been dreaming of for a long time. The approval of SPINRAZA meant there was a treatment option for William,” Heidi shares. That fall, with the support of his family, William started college. There are students there who take shifts to help care for William, allowing him to live a college experience without his parents having to be onsite.
More than two years after starting treatment, William is continuing to receive SPINRAZA, which is administered intrathecally every four months, to help treat his SMA. He visits his doctor every few months to monitor his SMA and check for potential side effects of treatment with blood and urine tests. Common side effects include lower respiratory infection, fever, constipation, headache, vomiting, and back pain (see below for more information).
“Just the other day, when I noticed he opened the door by himself, I cried. Each little victory is a step forward,” Heidi shares.
As the youngest child in his family, William has always looked up to his siblings, noting, “I look at the things my siblings are doing and say ‘sure, why not, I can find my own way to do that.’”
William shares the family’s obsession with sports, a passion for competition and drive for success. At 11 years old, he was introduced to powerchair soccer and was immediately a natural. Now, in addition to playing power soccer, William is also a manager of multiple sports programs and his college soccer team. “He doesn’t let SMA get in the way of doing the things he loves and along the way, he inspires people of all ages to do the same,” Heidi adds.
William hopes to inspire other adults with SMA and encourage them not to feel defined or limited by their disease. “After 20 years, I’ve realized that, yes, SMA is a debilitating disease that affects everyone differently, but I feel like I have a very full life ahead of me. Given the advances in treatment, I think it is important for adults with SMA to speak with their physician to learn about treatment options like SPINRAZA and advocate for their care."
SPINRAZA® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients.
IMPORTANT SAFETY INFORMATION
Increased risk of bleeding complications has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs.
Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney, has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk.
The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome.
These are not all of the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.
Before taking SPINRAZA, tell your healthcare provider if you are pregnant or plan to become pregnant.
Please visit http://bit.ly/SpinrazaPI for the full Prescribing Information and to learn more.
This information is not intended to replace discussions with your healthcare provider.