Two-year-old Pakistani girl successfully treated for extremely rare genetic disease

ABU DHABI, 25th November, 2022 (WAM) — Burjeel Medical City has successfully performed a bone marrow transplant (BMT) in a 2-year-old Pakistani girl with PGM3 deficiency SCID, an extremely rare genetic disorder that leaves infants susceptible to severe infections right from the time they are born.

Dr. Zainul Aabideen, Head of the Department of Pediatric Hematology, Oncology, and Bone Marrow Transplantation at Burjeel Medical City, and his team successfully carried out the procedure on Eman, whose 4-year-old brother donated his bone marrow for his little sister.

When Eman was born two years ago, she appeared to be a healthy and happy baby. However, within a few days she developed an infection, which was treated with antibiotics. Little did her parents know that their seemingly healthy baby girl was very sick. Over the course of the next few months, Eman developed multiple infections of the ear, chest, skin, and mouth. These viral, bacterial, and fungal infections led to multiple hospital admissions and many rounds of antibiotics. By the time she was 9 months old, her parents had consulted infectious diseases experts who ordered genetic testing based on her history. The tests confirmed Eman had PGM3 deficiency SCID.

At Burjeel Medical City, Dr. Aabideen and his team conducted further evaluations and investigations to ascertain whether she was fit for a bone marrow transplant, the only treatment for this condition. As Eman and her brother were a close match, it was decided that her brother would be the donor.

“Both the patient and donor underwent the required investigations. All the tests at Burjeel Medical City showed her brother was the best donor for her, and he was fit for donating bone marrow for his sister,” said Dr. Aabideen.

SCID or Severe Combined Immunodeficiency Disease is the most severe form of Primary Immunodeficiency Disease (PID), a rare genetic disorder that causes life-threatening problems with the immune system.

Eman was admitted on 7th July, and the team successfully performed the BMT on 18th July. She was kept in the hospital for a month for post-transplant care, with the medical team constantly monitoring her improvement. The post-BMT period is crucial, with the one-month and three-month milestones reflecting the patient’s progress. Even after 100 days, Eman had not developed any health issues or recurrent infections. Once she crossed this important milestone, the Burjeel Medical City medical team termed the transplant very successful.