Marie-Christine’s advocacy journey began in 1995 with her daughter’s diagnosis of spinal muscular atrophy (SMA). She describes how AFM-Téléthon, a French neuromuscular patient organisation, has “powered up” its national advocacy to have an international impact, through its work with SMA Europe

Written by Geoff Case, RARE Revolution Magazine

Over the years, Marie-Christine has seen differences in how quickly people with SMA are diagnosed. Fortunately, her daughter Laëtitia, twin to her other daughter, Sophie, was diagnosed quickly when she was 18 months old after she started refusing to stand. When Laëtitia was referred to a paediatric hospital for further investigation, the doctor suspected SMA almost immediately. Two or three days later, test results confirmed that diagnosis. However, to the family’s relief, the test ordered for Sophie showed she did not have the condition.

Marie-Christine is grateful for the speed of Laëtitia’s diagnosis and attributes that to being in the right place at the right time. She says that families may have to wait longer between the first signs of the disease and a diagnosis, depending on the services they can access in their region or country.¹

At this stage, Marie-Christine knew little more about SMA than the name of the condition. She was upset by the diagnosis but told herself that Laëtitia’s not being able to walk was not unusual for a child of her age, so perhaps things were “not so bad”.

Her personal doctor spent an afternoon in a university library to find out more about SMA, and his findings were deeply worrying to the family. They had a tough time learning that the average life expectancy of a child born at that time with SMA was only a few years.

“As a family, we thought we had only a very short time with Laëtitia, and we decided we’d try to make the best we could of that time.”

Marie-Christine

Fortunately, shortly after Laëtitia’s diagnosis came new care guidelines that focused on respiratory support. These have resulted in a considerable overall improvement in the outcomes for people with SMA—and so it has proved with Laëtitia.

Laëtitia, who is now 30 years old, lives with her boyfriend in Paris, where she works full-time as an engineer.

After Laëtitia’s diagnosis, Marie-Christine contacted AFM-Téléthon, a French neuromuscular patient organisation, which has supported people with genetic, rare and progressive diseases since 1958.

The telethon organised by the association is an annual live TV event, about 30 hours long, that takes place in early December, to raise funds for research and care needs. In 2023, it raised more than 80.6 million euros.

AFM-Téléthon educated the family about spinal muscular atrophy and helped them to overcome practical difficulties, such as getting an electric wheelchair suitable for such a young child and making sure Laëtitia’s kindergarten was wheelchair accessible. It also helped them to meet the cost of modifying their car and home.

Importantly, too, it gave the family the opportunity to meet a teenager with SMA, which really helped them to understand the long-term implications of living with the condition. There were also family days to attend. “These were quite a new idea in the 1980s,” Marie-Christine says, “but it was so important to have that network—it shows you what is possible.”

Marie-Christine’s experiences as a parent led to her volunteering, from 2001, as a patient-advocate for AFM-Téléthon, and she has been on its board of directors since 2009.

Looking back now on more than 20 years of service, Marie-Christine highlights the important contributions the association has made. It has contributed significantly to the French national plans for rare diseases, helped to improve access to treatments (including early access), secured reimbursement for treatments and enabled access to logistical support and paid caregivers.

One of many highlights has been the introduction of the referent parcours santé (health pathway adviser, RPS), a job devised by AFM-Téléthon in 1988. Acting as single points of contact, these professionals liaise between affected individuals and the healthcare and other services they need to access, helping with anything from the repair or replacement of wheelchairs to the modification of a car, home, school or workplace.

“Laëtitia has been fortunate to have had the same RPS for the last 20 years. She has been able to contact her with any difficulties that arise between their six-monthly meetings, and it is a comfort to her knowing there is someone always at hand in whom she has confidence.”

Marie-Christine

Another highlight has been AFM-Téléthon’s work to improve the transition for young people moving from paediatric to adult medical care. The organisation works closely with a network of neurologists so that transition can happen at any time between the ages of 16 and 20, depending on what best suits the young person. Marie-Christine believes that having a major transition in healthcare at 18, when a young person is going through other transitions, such as moving from college to university, is “just not viable”. She was pleased to see this flexibility become a national recommendation in 2021. The next step, she says, will be enhancing the role of psychologists within the process.

“For Laëtitia, transition was one of the biggest challenges. It was not about a lack of information—a nurse coordinated everything—but about timing. Personalising treatment, such as accommodating the life of a student, is very important.”

Marie-Christine

SMA Europe, an umbrella organisation for SMA patient organisations in Europe, was founded in 2008 by AFM-Téléthon and patient organisations from Germany, Italy, the Netherlands, Spain and the United Kingdom. With a shared funding pot for research, SMA Europe hoped to boost the likelihood of finding treatments.

Marie-Christine explains their rationale: “The more researchers you have, the higher the chance to find treatments.” Since then, she says, SMA Europe has become “a facilitator and an accelerator on the pathway for implementation and access to treatments for SMA.”

When Marie-Christine was SMA Europe’s president (2017–2019), she and Eduardo Tizzano proposed the idea of a European scientific congress on SMA. “We needed to educate not only our clinicians but also our patient representatives—I felt they should have access to the science in the same way as they did in the United States, thanks to Cure SMA.”

She describes SMA Europe’s first scientific congress, which took place in 2018, as “amazing” and an “unexpected success”. Since then, as chair of the congress steering committee, she has seen the congress become an important part of the SMA community’s calendar every two years. Growing attendance figures attest to its success, she says: “We had 600 participants in 2020 in Evry [France], 800 in 2022 in Barcelona and 1,000 in Ghent in 2024.”

The keys to this growth, Marie-Christine believes, have been SMA Europe’s innovative choice of speakers and posters, as well as its encouragement of new researchers to present work in the main sessions alongside established researchers. As the powerful voice of the SMA community, it brings together diverse stakeholders in the same place, from Europe and around the world, including patients, clinicians, researchers, industry representatives and regulators.

“Now our congress is recognised as one of the most important in the domain, where researchers do not hesitate to present significant publications.”

Marie-Christine

Reflecting on the incredible work of SMA patient organisations, Marie-Christine reminds me of where this all begins—in the hearts of parents who have no choice but to advocate for their children.

“If SMA patient organisations have performed such amazing work, remember, just a few years ago, half of newly diagnosed patients died within one year—that’s unacceptable for a mum.”

Marie-Christine’s words—indeed, her whole journey as an extraordinary patient advocate—are a reminder of how the passion of individuals is the bedrock of national patient organisations such as AFM-Téléthon. And, as the work of SMA Europe shows us, international collaboration builds upon that bedrock to create the most remarkable achievements.

“Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.”

– attributed to Margaret Mead

References

[1] Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review – PubMed (nih.gov) Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol. 2015;53(4):293-300. doi:10.1016/j.pediatrneurol.2015.06.002

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This digital spotlight has been made possible with financial support from F. Hoffmann-La Roche Ltd. The content was developed in collaboration with SMA Europe and F. Hoffmann-La Roche Ltd. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.

Date of preparation: April 2024 – M-GB-00016466

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