SMA: Life with a Genetic Disorder

Erdős Ákos’s story can be inspiring for many families, especially those facing similar challenges. SMA, or spinal muscular atrophy, is a rare but severe genetic disorder that significantly affects children’s motor development. Recognizing the disease and seeking appropriate treatment is crucial, as early diagnosis and intervention can help improve the quality of life for children.

In Ákos’s case, the early delay in motor development alerted his parents to the problem, prompting them to seek a diagnosis. The assistance of physiotherapists and specialists was essential in establishing the correct diagnosis, enabling them to pursue the appropriate treatments. The solidarity of the SMA community and the sharing of experiences provided further support for the family.

Diagnosis and Treatment of SMA

Ákos’s motor development differed from that of his peers, which concerned his family. The first step was consulting a physiotherapist specializing in the movement development of infants. During subsequent treatments, such as the Developmental Therapy, the parents increasingly felt that something was wrong, leading them to seek a specialist based on recommendations from professionals.

During a three-day examination at the neurology department of SOTE II, suspicion arose for spinal muscular atrophy, which was later confirmed through genetic blood testing. SMA is characterized by the degeneration of the spinal cord motor neurons, leading to a gradual loss of motor functions. After Ákos’s diagnosis, the family connected with other families in similar situations, which helped them process the difficulties.

Treatments like the application of Spinraza offered new hope for the family. Spinraza is an innovative therapy that may slow the progression of the disease and, according to experiences, can improve the patient’s condition in many cases. During rehabilitation at the Budai Children’s Hospital, meeting other SMA children also contributed to strengthening the sense of community, which provided important support.

Ákos’s Daily Life

Ákos’s daily routine is strictly planned, as his mobility limitations require significant attention. Part of his daily routine includes using a standing frame to help improve his posture, as well as tummy time, which is also important for his development. Traveling in a wheelchair helps him explore his surroundings, and he uses a cough assist machine several times a day to support his respiratory functions.

In addition to movement, play plays an important role in Ákos’s life. His parents strive to integrate developmental tools into play to make learning more enjoyable. Ákos is exceptionally skilled at building with blocks and enjoys playing while listening to music, which also helps with his entertainment and focus. He is a cheerful and happy child who clearly expresses what he wants and asks for help when needed.

The Role and Goals of the Foundation

It is important for the family that other SMA children also receive the necessary support. This is why they established a foundation, which was registered in May 2019. Among their goals is to ensure that Ákos can travel to Italy to the Sapre Institute, where he can receive personalized developmental tools and advice. The costs of the trip are significant, and the family cannot cover them on their own, making the search for support essential.

Community support and contributions, both large and small, come in daily, giving the family hope to achieve their goals. The assistance of the community and the sharing of experiences within SMA groups play a crucial role in ensuring that the family does not feel alone in their challenges.

Future Prospects and Message to Others in Similar Situations

The ultimate goal of Ákos’s treatment is to maximize the effects of the Spinraza injection. Based on experiences, regular movement, physiotherapy, and the use of assistive devices are essential for development. The results so far are encouraging, as Ákos is able to continue progressing independently, and he is increasingly able to manage more challenging terrain in his wheelchair.

The family’s message to those facing similar problems is to not hesitate to consult a professional if they notice delays in their child’s motor development. Early diagnosis and appropriate treatment are crucial for future development. For children living with SMA, the right support and community solidarity can provide hope for the future.