Abu Dhabi: Pakistani boy donates bone marrow to save two-year-old sister with rare genetic disease – News | Job Binary


The patient has not developed health problems or repeated infections after a successful transplant



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Published: Thu 24.11.2022, at 17:05

Doctors in Abu Dhabi have successfully performed a bone marrow transplant (BMT) on a two-year-old Pakistani girl with an extremely rare and life-threatening genetic disorder that has caused several serious infections since birth.

Dr. Zainul Aabideen, head of pediatric hematology, oncology and bone marrow transplantation at Burjeel Medical City, and his team performed the procedure on Eman, whose four-year-old brother Abdul Hanan donated the bone marrow.

When Eman was born two years ago, she seemed like a healthy and happy baby. However, he developed an infection within a few days, which was treated with antibiotics. Little did his parents know that their seemingly healthy baby was very sick. Over the next few months, Eman developed several ear, chest, skin and mouth infections. These viral, bacterial and fungal infections resulted in several hospitalizations and many rounds of antibiotics. When he was nine months old, his parents consulted infectious disease specialists, who ordered a genetic test based on his history.

Tests confirmed that Eman had phosphoglucomutase 3 (PGM3) deficiency and severe combined immunodeficiency disease (SCID).

Dr. Aabideen and his team conducted further evaluations and tests to ensure that he is suitable for a bone marrow transplant, the only treatment for this disease. Since Eman and her brother were close to each other, it was decided that her brother would be the donor.

“Both the patient and the donor underwent the required examinations. All the tests showed that his brother was the best donor,” Dr Aabideen said.

Understanding SCID

SCID is the most severe form of primary immunodeficiency disease (PID). It is a rare genetic disease that causes life-threatening problems with the immune system.

According to Dr. Mansi Suchdev, Pediatric Bone Marrow Transplant Consultant at Burjeel Medical City, more than 300 types of PID have been identified so far. In Eman’s case, a deficiency of the PGM3 enzyme caused SCID.

“The most common feature of SCID is recurrent severe infections from birth. Although infections can be treated temporarily with antibiotics and antivirals, they will return. The only permanent curative treatment for such diseases is early diagnosis and bone marrow transplantation. Early diagnosis of this disease is rare. Usually by one year of age, most SCID babies die of severe infections unless doctors diagnose it early and do BMT,” said Dr. Suchdev.

Dr Fulvio Porta, Head of Pediatric Bone Marrow Transplantation at the Spedali Civili Hospital in Italy and International Advisor for the Pediatric PID BMT Program at BMC, said: “In general, the success rate of SCID PID after BMT is up to 90% if diagnosed early and BMT the process is started early.The success rate is usually less than 50 percent if the diagnosis is late and the patient had multiple infections before the transplant.

Although tests and examinations on Eman showed that she could undergo a bone marrow transplant, the success rate was predicted to be lower due to her previous history of multiple infections.

Beats all odds

Eman was accepted on July 7th and the team successfully completed the BMT on July 18th. He was kept in the hospital for a month for post-transplant care, with the medical team constantly monitoring his recovery. The period after BMT is crucial, as the one- and three-month milestones reflect the patient’s progress. After 100 days, Eman had developed no health problems or recurrent infections. After he crossed this important milestone, the medical team at Burjeel Medical City called the transplant a huge success.

“Although in his case he had several infections in the past, he showed signs of success early on. By day 13 after BMT, he showed sufficient neutrophil count. A more accurate genetic success test is the chimerism test, which he did on day 14 after BMT. Chimerism test results clearly show that her BMT has been successful,” added Dr. Aabideen.

Dubai-based parents Mudassar Farooq Farooq Ali, an account manager, and Madiha Mudassar, who have lived in the country for 13 years, are happy about their daughter Eman’s successful BMT.

“We are very excited about this great news. Our daughter has suffered from this terrible disease since birth. He had several hospitalizations and thousands of blood tests, causing him intense pain and frustration. We have no words to express our joy. We are proud that our son has been able to support his sister as a donor. We are grateful that the UAE has BMT facilities at Burjeel Medical City, otherwise we would have faced a lot of difficulty in taking our children abroad for treatment,” Madiha said.

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