Her Doctors Treated Her SMA Early, and it Worked

 Spinal muscular atrophy is rare progressive muscular disease that over time, erodes a patient’s movement. Without early intervention, the condition erodes the young patients ability to breathe and even swallow.
As reported in Gulf News, baby Afra from UAE got her diagnosis with SMA at just three months old. Her early diagnosis got the attention of her medical team at the Sheikh Khalifa Medical City Hospital (SKMC) in Abu Dhabi. They thought that despite her relatively late diagnosis, she was an ideal patient to test the power of the latest advanced therapy options for genetic diseases, that might help her power through. They got straight to work.
After treating the one-year-0ld with an important genetic medicine, the doctors emerged triumphant. Baby Afra could avoid the fate of the powerful progressive disease, and lead a healthy life.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare genetic disorder that progressively causes a person’s muscles to degenerate. While the condition varies by individual, with different ages of onset and a ranging severity, all experience growing muscle weakness over time. The disorder, caused by a gene mutation in the SMN1 gene, causes the death of the nerve cells in the brain and spinal cord, over time causing difficulty walking, sitting, moving the head, and in worse causes, breathing or swallowing.  While there is supportive care, and a drug treatment option as of 2016, there is no cure.

Spotting SMA

Afra was lucky— her family spotted that their newborn was developing abnormal movements before it progressed beyond repair. When they got it checked, their doctors confirmed her suspicions.
Her mother explained,
“I first noticed abnormal movements in Afra when she was only three months old and quickly consulted a paediatric physician. After multiple tests, Afra was diagnosed with SMA, and transferred to the Sheikh Khalifa Medical City (SKMC).”

She was diagnosed with the rare disorder that’s more common for Arab nations— with a prevalence of about 50 times higher than the USA in the GCC populations, according to the Centre for Arab Genomics Studies. That’s about 50 cases per 100,000 live births in GCC, compared to the 1.2 per 100,000 diagnosed in the US.

An Imported Genetic Medicine

Her diagnosis came just in time— the disease necessitates early intervention. The medical team they recognized the potential of a foreign treatment option for their young patient. They treated her with the genetic medicine that acts to target the neurons that are impacted by the abnormal SMN1 gene. They inserted normal copies of the gene to be carried through the body using viral vectors.
Following the treatment, the muscle condition improves in terms of movement and function. The head of the pediatric neurology department at SKMC, Dr. Omar Ismail, said,
“In Afra’s case, even though she was brought in quite late with affected limbs, we quickly jumped into action with an inclusive treatment plan that prevented further deterioration of her muscles while we waited for the required genetic treatment to arrive from abroad. This particularly helped with Afra’s breathing muscles, and eliminated the need for an artificial respiratory device.”
The remarkable effects on her symptoms were a wake-up call the doctors, who got to finally see progress in a patient, proving the treatment’s function in treating the devastating  disorder.
“Afra’s journey towards recovery is a significant achievement, not just for the Abu Dhabi Health Services Company (Seha) network [which includes SKMC], but for the wider healthcare ecosystem in the country, as we provide hope and create impact for families with children diagnosed with SMA,” said chief executive director of SKMC, Dr. Mariam Al Mazrouei.
For Afra’s family, the treatment means getting to come home with their healthy young daughter, a joy that just a decade prior a family affected by the disease couldn’t imagine. They greeted the teams success and her new health with gratitude. Afra’s mother said,
“The medical team has implemented a robust treatment plan. I am tremendously grateful to them for their diligence in treating my daughter.”

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