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#ScienceWillWin

Here’s a personal look at how families and researchers use science to take on rare genetic diseases

Here’s a personal look at how families and researchers use science to take on rare genetic diseases
Photo courtesy of Unsplash
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When Kelly Mantoan got the news that her 1-year-old son, Fulton, had spinal muscular atrophy (SMA) – a rare and progressive genetic disease – she was devastated. More difficult news came just a few months later when she gave birth to her newborn son, Teddy, at 32 weeks. As she sat with him in the neonatal intensive care unit shortly after his birth, doctors confirmed that Teddy had tested positive for SMA as well.

"I was sobbing uncontrollably," Kelly remembers. "[My husband and I] hadn't even fully come to terms with Fulton's diagnosis, and now we have two kids with it."

The Mantoans knew little about SMA – only that the condition involved the loss of motor neurons in the spinal cord due to a defect on the SMN1 gene. The SMN1 defect, the couple learned, meant the boys were unable to produce a protein called SMN, or "survival motor neuron." Without this protein, the muscles surrounding the spinal cord (and then, later, distal muscles such as the arms and legs) gradually weaken, affecting the person's ability to walk, breathe, and swallow. Worse still, while Teddy had been classified as having SMA Type 2, Fulton was classified as having Type 1 – the most fatal form of SMA, typically resulting in a life expectancy of less than three years. (Fulton was later re-evaluated and determined to have SMA Type 2. With proper care, people living with SMA Type 2 often live well into adulthood.)

"We truly thought Fulton was going to die within three years," Kelly recalls.

At the time of Fulton's diagnosis in 2009, there was little anyone could do. Physical therapy helped slow the muscular atrophy, but no medications existed to reverse the muscle function that the boys had already lost. But when Fulton was 8 and Teddy was 10, Kelly heard about a clinical trial for a drug, infused every few months through a lumbar puncture, that could stop the muscle atrophy and potentially even reverse some of the damage. If the treatment worked, the boys, who were now in wheelchairs full time – might be able to regain some of their muscle strength and their function. Kelly and her husband, Tony, were skeptical at first, but changed their minds when other parents in the SMA community started reporting incredible results. Kids with SMA who had lost muscle function were starting to smile, to hold things, to lift their heads on their own. "When it got FDA approval, I knew enough about it that I wanted to get both boys on board," she says.


Testing and advancing new genetic therapies toward FDA approval is the ultimate goal of scientists such as Jane Owens, a Senior Director in the Discovery Biology group at Pfizer within their Rare Disease Research Unit. Owens leads a group of scientists who work to develop medicines for patients with rare diseases that affect skeletal muscles. Although Owens and her team were not involved in developing the therapy that Fulton and Teddy Mantoan have used, they are helping develop therapies that may address the underlying cause of other genetic diseases. "Our genes contain the instructions for making proteins," Owens says. "If the cause of a genetic disease is a gene mutation that results in low levels or even none of that protein being made, we can generate a molecular construct that allows us to deliver a corrected copy of the gene to the patient, thereby replacing the missing protein," she says. This, says Owens, is the premise of many gene therapies in development — and the medicines that may be borne out of this research give hope to families like the Mantoans. "As scientists, our goal is to advance research to unlock the promise of gene therapy for patients, living with rare genetic diseases worldwide, for whom the current standard of care falls short. We're driven by the potentially transformative benefits for patients and their families," Owens said.

Photo by CHUTTERSNAP on Unsplash

Currently, Teddy (now 10) and Fulton (13) are both on a new genetic medicine for their SMA. The new medication, similar to the first, is designed to stimulate the production of the missing protein, only this time the boys take a daily oral medication rather than a lumbar puncture.

While neither of the Mantoan boys has seen dramatic changes in their condition, Kelly says that their therapy has prevented a decline — something the entire family is thankful for. "People want to know if they're doing these big grandiose things like walking, and they're not doing that. But breathing is so important, and we're grateful they haven't lost that ability."

It is important to note that all families may not have the same experience as the Mantoans. There is still much to be understood about genetic therapy. "It's not right for every patient, and the patient responses may be variable," Owens said.

Looking toward the future, the Mantoans are cautiously optimistic that genetic medicine will help the boys maintain their present quality of life.

"Prior to these [treatments], you'd have a skill, then plateau, and then your function would decline and continue to go down," she says. "Now the boys are maintaining, and they're not getting significantly weaker. We're just really happy about that."

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Three women, three MS journeys: How multiple sclerosis looks different for everyone

Gina, Nathalie and Helga share their reactions to being diagnosed with MS and how they stay informed and positive in the face of ever-changing symptoms.

Courtesy of Sanofi

Helga, Nathalie and Gina all have MS, and their experiences show how differently the disease can manifest.

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It’s been 155 years since neurologist Jean-Martin Charcot gave the first lecture on a mysterious progressive illness he called “multiple sclerosis.” Since then, we’ve learned a lot. We know MS causes the immune system to attack healthy tissue, including damaging the brain and spinal cord. Resulting symptoms can be debilitating and include fatigue, blurred vision, memory problems and weakness. Huge advancements in our understanding of MS and its underlying causes, as well as treatment advances, have been made in the past few decades, but MS remains a complex and unpredictable reality for the 2.8 million+ people diagnosed around the world.

Ironically, the only real constant for people living with MS is change. There’s no set pattern or standard progression of the disease, so each person’s experience is unique. Some people with MS have mild symptoms that worsen slowly but sometimes improve, while others can have severe symptoms that drastically alter their daily lives.

All people with MS share some things in common, however, such as the need to stay informed on the ever-evolving research, find various lines of support and try to remain hopeful as they continue living with the disease.

To better understand what navigating life with MS really looks like, three women shared their MS stories with us. Their journeys demonstrate how MS can look different for different people and interestingly, how the language used to talk about the disease can greatly impact how people understand their realities.

woman with horse, woman riding horseGina loves riding her horse, Benita.Courtesy of Sanofi

Gina—Hamburg, Germany (diagnosed with relapsing multiple sclerosis in 2017)

When her youngest son was 4 months old, Gina started having problems with her eye. She’d soon learn she was experiencing optic neuritis—her first symptom of MS.

“Immediately after the diagnosis, I looked up facts on MS because I didn’t know anything about it,” Gina says. “And as soon as I knew what could really happen with this disease, I actually got scared.”

As her family’s primary income provider, she worried about how MS would impact her ability to work as a writer and editor. Her family was afraid she was going to end up in a wheelchair. However, for now, Gina’s MS is managed well enough that she still works full-time and is able to be active.

“When I tell somebody that I have MS, they often don't believe me the first time because I don't fulfill any stereotypes,” she says.

Overwhelmed by negative perspectives on living with MS, Gina sought support in the online MS community, which she found to be much more positive.

“I think it’s important to use as many positive words as you can when talking about MS.” It’s important to be realistic while also conveying hope, she says. “MS is an insidious disease that can cause many bad symptoms…that can be frightening, and you can't gloss over it, either.”

To give back to the online community that helped her so much, Gina started a blog to share her story and help others trying to learn about their diagnosis.

Though she deals with fatigue and cognitive dysfunction sometimes, Gina stays active swimming, biking, riding horses and playing with her sons, who are now 11 and 6.

Cognitive dysfunction is common in MS, with over half of people affected. It can impact memory, attention, planning, and word-finding. As with many aspects of MS, some people experience mild changes, while others face more challenges.

Gina says that while there’s still a lot of education about MS needed, she feels positive about the future of MS because there’s so much research being done.

woman in wheelchair holding medal, woman rowingNathalie is an award-winning rower with multiple international titles.Courtesy of Sanofi

Nathalie — Pennes Mirabeau, France (diagnosed with relapsing-remitting multiple sclerosis in 2002)

Nathalie was a teenager and a competitive athlete when she noticed her first symptoms of MS, but it would take four years of “limbo” before she was diagnosed.

“Ultimately, the diagnosis was more of a relief, than a shock,” she says. “Because when you have signs and you don’t know why, it’s worse than knowing, in the end, what you have.”

However, learning more about the disease—and the realities of disease progression—scared her.

“That glimpse of the future was direct and traumatic,” she says. Her neurologist explained that the disease evolves differently for everyone, and her situation might end up being serious or very mild. So, she decided to stop comparing herself to others with MS.

She said to herself, “We’ll see what happens, and you’ll manage it bit by bit.”

By 2005, Nathalie’s MS had progressed to the point of needing a wheelchair. However, that has not dampened her competitive spirit.

Nathalie began her international rowing career in 2009 and has won multiple world titles, including two Paralympic medals—silver in London and bronze in Tokyo. Now, at 42, she still trains 11 times a week. Fatigue can be a problem, and sometimes hard workouts leave her with muscle stiffness and shaking, but she credits her ongoing sports career for helping her feel in tune with her body’s signals.

“Over the years, I’ve learned to listen to my body, letting my body guide when I need to stop and take breaks,” she says.

Nathalie explains that she used to only look backwards because of the initial shock of her diagnosis. In time, she stopped thinking about what she couldn’t do anymore and focused on her future. She now lives in the following mindset: “Even when doors close, don’t miss out on those that open.” Instead of focusing on what she can’t do, she focuses on the opportunities she still has. Right now, this includes her training for the 2024 Paralympic Games in Paris, where she will compete for another rowing medal.

“I only go forward,” she says. “Well, I try, anyway…It’s easy to say, it’s not always easy to do. But that’s what I try to do.”

woman exiting water after swimming, woman with great daneHelga's Great Dane has become a helpful and beloved companion.Courtesy of Sanofi

Helga—Johannesburg, South Africa (diagnosed with relapsing multiple sclerosis in 2010)

When Helga first started having balance issues and numbness in her feet, she chalked it up to her training as a runner. But when the numbness moved to her face, she knew something was wrong. She never guessed it was MS.

“When I was diagnosed, I felt completely overwhelmed and clueless,” Helga says. “I felt that I had nowhere near enough information. I did not know anything about the disease…I had no idea that it was going to be a process of continually monitoring and adjusting your lifestyle.”

In the beginning, Helga’s symptoms developed slowly, and she didn’t appear ill to others. She was even able to run for a few years after her diagnosis, but she couldn’t do marathons anymore, and she began to fall frequently due to balance issues and right-foot dragging. Then her cognition issues became more problematic, especially in her job as a trainer in a printing company.

“My executive function, decision-making and short-term memory were affected to the point that I was eventually medically unfit for work,” she says. She stopped working in 2017.

However, she didn’t stop living life. Even though she could no longer run, she continued to swim competitively. She got a Great Dane puppy and trained him as a service dog to help her walk. She also serves as vice chair of the patient support organization Multiple Sclerosis South Africa, and she advises others who have been diagnosed to join a patient advocacy group as soon as possible to get reliable information and meet others with MS.

Helga says she is “hopeful” about the future of MS. “I must say that I am so grateful that we have all the new medications available, because my life would not be the same if it wasn't for that,” she adds.

Part of how she manages her MS is by looking at the positives.

“If I could tell the world one thing about MS, it would be that MS is an incurable disease of the nervous system, but it's also the greatest teacher of valuing your health, family, friends, and managing change in your life,” she says. “My life is diversified in a way that I never, ever thought it would, and MS has been honestly the greatest teacher.”

Each MS journey is unique – with each person impacted experiencing different struggles, successes, and feelings as they manage this unpredictable disease. But the common thread is clear – there is a critical need for information, support, and hope. We are proud to participate in World MS Day and share these incredible stories of living life while living with MS. To learn more about MS, go to https://www.sanofi.com/why-words-really-matter-when-it-comes-to-multiple-sclerosis.

MAT-GLB-2301642-v1.0-05/2023

This article was sponsored by Sanofi. Participants were compensated when applicable.

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