Rare Genetic Disease Affecting a Child: Lend a Hand to Those in Need

Rare Genetic Disease Affecting a Child: Lend a Hand to Those in Need

In a heart-wrenching turn of events, a young family in Belarus is facing a daunting challenge as they strive to provide the best possible care for their three-and-a-half-year-old son, David. Diagnosed with Spinal Muscular Atrophy (SMA), a debilitating neuromuscular disease, David's life has taken an unexpected turn, leaving his family grappling with the financial strain of his ongoing therapy.

Initially, David was a vibrant, active child, full of life and promise. However, as time passed, his parents noticed a concerning change. David started falling frequently, struggled with climbing stairs, and complained about leg pain. After a thorough examination, David was diagnosed with SMA.

The diagnosis of SMA significantly impacted David's family's life. Despite their efforts to seek assistance from the Ministry of Health, Victoria, David's mother, has yet to receive a response. With no other options available, the family is turning to the public for help.

One of the treatments prescribed for David is 'Risdiplam' (also known as 'Evrysdi'), a drug that can only be ordered and received after a delay of three months. Unfortunately, 'Risdiplam' is not included in the Belarus formulary of medicinal products, forcing David's parents to purchase the drug themselves.

David, unfortunately, was not a candidate for the usual one-time gene therapy due to detected antibodies and gene copies. This leaves 'Risdiplam' as his main treatment, although another therapy, 'Nusinersen' (also known as 'Spinraza'), was also prescribed. However, 'Nusinersen' is not registered in Belarus, making it unavailable for David.

'Nusinersen' is an FDA-approved antisense oligonucleotide therapy that targets the SMN2 gene to increase production of functional SMN protein, essential for motor neuron survival. Clinical trials have shown it significantly improves survival and motor function in SMA Types I, II, and III, including improved motor milestones and respiratory function.

While 'Nusinersen' may not be available in Belarus, it is a globally used, well-established alternative already benefiting tens of thousands of patients across many countries. The family is appealing for help to cover the costs of 'Nusinersen' and to support David's long-term treatment for SMA.

In addition to financial support, David also requires comprehensive supportive care, including physical therapy, respiratory support, nutritional management, and assistive devices.

To help David and his family, you can make international transfers to Alfa Bank using the provided IBAN number. Alternatively, you can make bank transfers to Belarusbank or SberBank as specified in the article. You can also help by topping up the MTS account balance: +375 (33) 334-96-08.

Every little bit helps in this fight against SMA. Timely therapy is crucial in preventing SMA from progressing, and your support could make a significant difference in David's life.

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