Photo: Faith Fortenberry. Source: Muscular Dystrophy Association.
While many girls her age are just starting kindergarten, 5-year-old Faith is managing a disease called spinal muscular atrophy. And, little Faith Fortenberry's story is a little different than most.
While fighting the troubling effects of SMA, she has been taking Spinraza, which has helped her battle her severe and progressing symptoms. The drug has recently been approved by the Federal Drug Administration (FDA), which makes it the first approved treatment option for spinal muscular atrophy.
The story provides a very real lesson for everyone who may take the opportunities in life for granted from time to time. Simple actions, such as the ability to walk, are things that many do not fully appreciate. Faith’s progression has enabled her to move even closer to these actions, as the treatment for her condition has helped her to regain strength in her lungs and other regions of her body.
Faith’s mom, Leeann comments on her daughter's progress with Spinraza: “Seeing Faith regain her strength has been amazing… It’s just such a blessing to watch her discover the things that she can do. You know, undressing herself, gripping a pencil, putting a water bottle all the way to her mouth unassisted. Her face lights up every time she realizes that she can do something that she couldn’t do before. I’m just so grateful.”
While the recent progress has brought joy to her family members, Faith's journey has not been an easy one. Faith has recently begun to perform actions like raise her arms. She was first diagnosed with spinal muscular atrophy in 2013, and has since been battling the extremely harsh effects of her condition.
The new treatment option, however, has sparked a new glimmer of hope for Faith and her family. Faith’s family are blown away by what the treatment has been able to do, and that has been extremely effective for Faith’s improvements. Don, Faith’s dad, comments, “I call our doctor ‘superman’ because he is the one injecting this drug into our little baby and it’s just amazing.”
Even more impressive is how Faith holds herself. At such a young age, Faith has not let the diagnosis slow her down, helping to serve as an amazing role model for kids that are in a similar position. The little girl, who was diagnosed with spinal muscular atrophy at just under 1 and a half years old, is full of energy and an amazing personality.
Her mother points out, “She’s silly. She’s bossy. She doesn’t let anything stop her. If someone asks what’s wrong, she immediately says, ‘I have a muscular disease. Big deal.’ Her personality is just bubbly. She’s confident. She’s smart. You know, we karaoke Thursday nights and she’s been getting up since she was two years old and taking that mic and letting everyone know who’s boss. I could never ask for a better kiddo. She’s just fun. She’s positive. She’s happy. She’s sassy. Sometimes I don’t even believe that she thinks anything’s wrong with her.”
Faith’s optimism and attitude on life is one that everyone can follow. The spunk of such a young girl with a condition is evidence that someone truly can smile in the face of adversity. In addition, this attitude helps to motivate individuals with and without conditions like hers. Faith's dad discusses how his daughter does so well in interacting with others: “Faith is a magnet for other kids. She has a very loving heart and has an imagination that’s off the charts. Earlier today she told me about the ‘rainforest’ in the backyard – which is really just bushes – but to her it’s so real. She plays with other kids and just makes up games on the fly.”
An important thing to point out in the midst of all of this is the great potential that the treatment can bring for others. Don remarks, “It’s not just Faith who will benefit from Spinraza … This drug will spin off other drugs for other families and for other muscle diseases and it will open up avenues and possibilities for others.”
What is spinal muscular atrophy?
Spinal muscular atrophy is a specific type of genetic disease that is the result of damaged nerve cells within a patient’s spinal cord. These nerve cells, known as motor neurons, enable communication between cells that help the movement of voluntary muscles (the muscles that one has control over). These voluntary muscles can include the arms, legs, neck, and so on. Over time, these motor neurons begin to die, which then causes the weakening of one’s muscles. This breakdown in muscle strength and movement is what impacts a patient's ability to walk, breathe, crawl, swallow, and turn their head.
The symptoms spinal muscular atrophy include an absence or the decrease in the function of a patient’s deep tendon reflexes, decreased muscle tone, problems breathing, as well as involuntary movements (such as contractions or twitching of the muscles, also referred to as fasciculations).
It is important to note that these symptoms are specifically associated with type 2 spinal muscular atrophy, the condition that Faith was diagnosed with. This being said, there are three main types of spinal muscular atrophy, which include acute infantile spinal muscular atrophy (type 1), chronic infantile spinal muscular atrophy (type 2), and juvenile spinal muscular atrophy (type 3). The distinct difference between these different types of the disease are the time where the disease is become prevalent, as well as how quickly they progress or worsen.
The future for Faith and patients diagnosed with spinal muscular atrophy
As can be seen by the previous content, there is a lot to be hopeful for in terms of combatting the extremely difficult symptoms tied to spinal muscular atrophy. This is seen through the introduction of treatments like Spiranza, which may open the door to other FDA-approved treatment options in the near future.
All of these potential options will be made possible through a series of rigorous studies. These research efforts serve as a catalyst for advancements in medicine, and are made possible through large support systems. Organizations make this possible through donating their funds to such efforts, creating a much better world for patients like Faith. With the constant improvement of treatment options, the only way for Faith and others in her position is forward, toward a fulfilling life experience.