XI WEEKEND WITH SMA-KIEM - a meeting for SMA patients and their families

An exceptional time!

The first edition of "Weekend with SMA" was held in May 2013. Since then, the event has already become a permanent fixture on the calendar of important dates for spinal muscular atrophy patients, their families, the SMA Foundation and prominent specialists who educate conference participants free of charge every year. 10 years ago, the main goal of the SMA Foundation was to integrate the community of patients with spinal muscular atrophy and support them in the absence of treatment. The following years were a time of hope and waiting for a breakthrough in SMA drug research. When the first therapy for SMA appeared, in addition to joy, we felt that it was a success for our entire community. Even then, our efforts focused on bringing SMA testing to newborn screening. Today, 67 children have already been diagnosed from this program. Revolutionary changes have brought more drugs for SMA, and access to several therapies has allowed patients and their loved ones to change their outlook and plans for the future.

We still have the most difficult work ahead of us to implement coordinated care and hopes for more drugs, this time to strengthen muscles. Quality of life for our patients is our priority. At Weekend with SMAk, we have the opportunity to share knowledge, new technologies and therapies, and everyday solutions. Integration combined with education, gives us all a sense of community and striving for a better tomorrow," says Dorota Raczek, president of the SMA Foundation.

As early as June 2-3 this year, whole families facing the great challenge of spinal muscular atrophy will meet at the BOSS Hotel in Warsaw during the 11th "Weekend with SMA", which will be a workshop and conference. The program includes: my past year - expectations and experiences of people with SMA in the words of patients, what lies ahead for the SMA world, new molecules, therapies and research, prevention and respiratory support during severe infections, electrostimulation of the face - possibilities and limitations of hip joints in children with SMA, motor activation and support for people with disabilities. SMA patients and their families will also be treated to interesting activities of an inclusive nature, such as an evening gala, a ball for children, a ball for adults and a light to the sky.

The SMArt RUN, a run primarily aimed at spreading awareness of the disease spinal muscular atrophy and supporting the SMA community, will be held on Friday.

Take advantage of opportunities

The Weekend with SMA continues to grow and expand, with more and more people participating every year. This year, for the first time, the spinal muscular atrophy community and their families will come together in a new reality - as of March 28, 2022, all of Poland has been covered by universal newborn screening for SMA, and since last September, patients have had access to all three registered therapies - nusinersen, onasemnogen abeparvoweku (gene therapy) and risdiplam. The introduction of the screening and the three therapies for the treatment of SMA is not only an important event for the entire community, but also for Poland as a whole, which has become one of the major leaders in treating the disease in Europe, on a par with Germany, Norway and Belgium.

The most widely used therapy for the treatment of SMA is nusinersen, it is also the therapy that is used in the largest number of patients and has the longest clinical follow-up. On March 14 of this year, 813 people were treated with nusinersen in the SMPT (treatment program monitoring) system. Nusinersen is the first registered SMA disease-modifying drug, which has already been available to Polish patients for more than six years (first administrations under early access (EAP) - March 2017). The other two therapies complement the B.102 drug program and, together with the first therapy, change the quality of life of people with spinal muscular atrophy for the better. With effective treatment and rehabilitation, SMA patients can live, travel, learn, work and be more independent. They can look to the future with hope and realize their plans and dreams.

Know, support, help

SMA, or spinal muscular atrophy, is a severe rare disease that develops as a result of a genetic defect that impairs the production of the SMN protein necessary for the proper functioning of motor neurons located in the spinal cord. Lack of nerve impulses due to neuronal death leads to generalized weakness and progressive partial or complete atrophy of skeletal muscles. The disease affects people of different ages, but in more than 90 percent of cases symptoms appear in infancy or early childhood. In Poland, about 1,200 people of all ages suffer from SMA. Each year, doctors diagnose about 50 new cases of the disease.

It is worth noting that SMA does not affect cognitive and intellectual development. Sick children are mostly as intelligent as their healthy peers. Until the introduction of modern respiratory care and drug treatment, SMA was the most common genetic cause of death in children under the age of 2.

"Weekend with SMA" is intended to support SMA patients and their families. It's a chance not only to get the latest knowledge on how to cope with this incurable disease, but also a chance to integrate with other families and receive support.

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The conference was under the honorary patronage of the Spouse of the President of the Republic of Poland - Agata Kornhauser-Duda, the honorary committee of the Ombudsman for Patients' Rights Bartłomiej Chmielowiec, scientific patronage of the Polish Society of Child Neurologists, the National Chamber of Physiotherapists, the Association of Physiotherapy Poland, media patronage of national and professional media.

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The entire event program is available on the conference website: https://konferencja2023.fsma.pl/

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The SMA Foundation is the only organization in Poland for people with spinal muscular atrophy (SMA) and their families. It was established in 2013 on the initiative of parents of children with SMA. Since its inception, the Foundation has been dedicated to building knowledge about the disease, providing support to families struggling with SMA, supporting scientific research and pushing for the introduction of modern therapies in Poland. SMA, or spinal muscular atrophy, is a severe genetic neuromuscular disorder in which neurons in the spinal cord responsible for muscle function die off, gradually leading to muscle atrophy. The disease occurs in an average of one in 5000-8000 people, usually in infancy, and is the most common genetic cause of death in infants and young children. In Poland, one in 35 people is a carrier of the genetic mutation that causes SMA, and the number of sufferers is estimated at 1,200.

For more information, visit www.fsma.pl

Press material from the SMA Foundation