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Abu Dhabi: Pakistani boy donates bone marrow to save two-year-old sister with rare genetic disease

The patient has not developed any health issues or recurrent infections following the successful transplant

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

Dr Zainul Aabideen, head of the department of paediatric haematology, oncology, and bone marrow transplantation at Burjeel Medical City, and his team carried out the procedure on Eman, whose four-year-old brother Abdul Hanan donated his bone marrow.

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 was very sick. Over the course of the next few months, Eman developed multiple infections in 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 nine months old, her parents had consulted infectious diseases experts who ordered genetic testing based on her history.

The tests confirmed Eman had phosphoglucomutase 3 (PGM3) deficiency with severe combined immunodeficiency disease (SCID).

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 showed her brother was the best donor,” said Dr Aabideen.

Understanding SCID

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

According to Dr Mansi Suchdev, consultant, paediatric bone marrow transplantation at Burjeel Medical City, there are more than 300 types of PID identified so far. In Eman’s case, a deficiency of the PGM3 enzyme caused SCID.

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

Dr Fulvio Porta, director of paediatric bone marrow transplant at Spedali Civili Hospital, Italy, and international adviser of the paediatric PID BMT programme at BMC, said: “Usually, the success rate of SCID PID after BMT is up to 90 per cent if diagnosed early and the BMT process has been started early. The success rate is usually less than 50 per cent if the diagnosis is late and the patient had multiple infections before transplantation.”

Even though the tests and investigations done for Eman indicated she could undergo a bone marrow transplant, the success rate was predicted to be lower because she had multiple infections in the past.

Overcoming all odds

Eman was admitted on July 7, and the team successfully performed the BMT on July 18. 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. After 100 days, Eman had not developed any health issues or recurrent infections. Once she crossed this important milestone, Burjeel Medical City medical team termed the transplant very successful.

“Although in her case she had multiple infections in the past, she showed signs of success early. By day 13 after BMT, she showed enough neutrophil count. A more definite genetic test for success is the chimerism test, which she had on day 14 after BMT. The results of the chimerism test clearly show her BMT has been successful,” Dr Aabideen added.

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

“We are very excited by this great news. Our daughter has been suffering from this dreadful disease since her birth. She had multiple hospital admissions and thousands of blood tests causing her to endure severe 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 struggled a lot to take our child abroad for the treatment,” said Madiha.

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