Baby seeking support to beat rare disease

ISTANBUL- Anadolu Agency

A 12-month-old baby in Turkey is fighting a rare ailment seen one in every 6,000 children, and her family is hoping for help from kindhearted people to help her defeat the disease.

The drug developed for Spinal Muscular Atrophy (SMA) patients and approved by the U.S. Food and Drug Administration (FDA) is called Zolgensma. It costs 15 million liras ($2 million) for a single-dose cure.

Families are running social media campaigns to get the drug.

The family of Sare Aras took her to a hospital due to weakness in her movements when she was four months old.

Sare, who was diagnosed with SMA Type 1, began to lose reflexes in her muscular system and started to deteriorate further.

While she is being treated in Turkey, her medical condition is worsening daily.

In order to save her life, Sare’s family has started a social media campaign to have gene therapy in the U.S. but admitted they need a lot of help.

Sare’s mother said the family needs to get gene therapy as soon as possible.

"We need the help of charitable people to get that medicine," said Aynur Aras.

She said all her dreams were shattered when her daughter was diagnosed with SMA.

"Support should be provided not only for our baby but also for all children struggling with this disease," she said.

Social media

Aras said the campaign, unfortunately, is going very slowly.

"Doctors say your child is sick and will die very soon. We heard there’s no advanced treatment for this. Now a medicine, a cure is out there but it's standing on a mountaintop. Our access to it depends only on money," she said.

Aras is near desperation because despite the medicine being available, she cannot access it because the family is not rich.

"If I lose my child, it will be because I don't have money," she said.

SMA disease

Serhat Güler, a lecturer in pediatric neurology at Istanbul University Cerrahpasa’s Medical School, said symptoms of SMA type 1 disease are the most severe and the disease moves fast, so patients are prioritized to receive treatment.

"SMA is a disease with four subtypes, and type 1 shows symptoms of lack of movement and lack of head control between 0-6 months," he said.

The disease is mainly caused by a protein deficiency called SMS, which is in the neural network between the brain and muscles.

"This protein, which cannot be produced, causes damage to nerve cells. Progressive muscle weakness occurs in the whole body due to the amount of damage," said Güler.

Treatment works by increasing the protein that is missing.

"As a result of treatment, the progression of the disease is prevented," he said.

Stressing the importance of early diagnosis, Guler said the four types of diseases show different symptoms at every age.

“Treatment of these patients in our country continues with medicine that received its first approval and is implemented intrathecally. The Turkish Health Ministry delivers this treatment quickly and effectively to every patient diagnosed with SMA," he said.

Gene therapy was approved in the US in May 2019 and in Europe a year later, but the treatment cannot be implemented in all European countries at the moment due to ongoing challenging clinical tests and observations.

SMA patients do not have any problem in accessing medicine approved by the Turkish Health Ministry.

“The medical treatment that is used in Turkey provides its effectiveness in the missing protein by increasing the production of proteins structurally similar to this protein,” he said.

He said the ministry delivers treatment quickly and free of charge.

"The gene therapy in the US provides the reproduction of the missing protein directly, therefore, there may be differences in efficacy," he stressed, and added comparative results between treatments in scientific terms are currently lacking.