The patient did not develop any recurrent health problems or 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 disease that has caused multiple serious infections since birth.
Dr. Zainul Aabideen, head of the Department 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 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. Her parents were unaware that their apparently healthy child was very ill. Over the next several months, she Eman developed multiple ear, chest, skin, and mouth infections. These viral, bacterial and fungal infections led to multiple hospital admissions and many rounds of antibiotics. When she was nine months old, her parents consulted infectious disease experts who ordered genetic testing based on her history.
Tests confirmed that Eman had phosphoglucomutase 3 (PGM3) deficiency with severe combined immunodeficiency disease (SCID).
Dr Aabideen and her team conducted further evaluations and investigations to ascertain whether she was eligible for a bone marrow transplant, the only treatment for this condition. Since Eman and her brother were very close, it was decided that her brother would be the donor.
“Both the patient and the donor have undergone the required tests. All tests showed her brother was the best donor,” said Dr. Aabideen.
SCID is the most severe form of primary immunodeficiency disease (PID), a rare genetic disorder that causes life-threatening problems with the immune system.
More than 300 types of PID have been identified so far, according to Dr Mansi Suchdev, Pediatric Bone Marrow Transplant Consultant at Burjeel Medical City. In Eman’s case, a deficiency of the PGM3 enzyme caused the SCID.
“The most common feature of SCID disease is severe infections that recur from birth. Although infections can be treated temporarily with antibiotics and antiviral drugs, they will come back. 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 from severe infections unless doctors diagnose it early and do OMT,” said Dr. Suchdev.
Dr. Fulvio Porta, director of pediatric bone marrow transplantation at Spedali Civili Hospital, Italy, and international consultant of the pediatric BMT PID program at BMC, said: “Usually, the success rate of PID SCID after BMT is up to 90% if diagnosed early and the BMT process was started early The success rate is usually less than 50% if the diagnosis is late and the patient has had multiple infections before the transplant.
Even though tests and investigations conducted for Eman indicated that she could have a bone marrow transplant, the success rate was expected to be lower because she had had multiple infections in the past.
Overcome all adversity
Eman was admitted on July 7 and the team performed a successful OMT on July 18. She was kept in 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 patient progress. After 100 days, Eman had not developed any health problems or recurring infections. Once this important milestone was passed, the Burjeel Medical City medical team called the transplant a great success.
“Although in his case he had had multiple infections in the past, he showed early signs of success. By day 13 after BMT, she showed sufficient neutrophil count. A more established genetic test for success is the chimerism test, which took place on day 14 after the BMT. The chimerism test results clearly show that her BMT was successful,” added Dr Aabideen.
Dubai Mudassar Farooq’s parents Farooq Ali, an account manager, and Madiha Mudassar, who have lived in the country for 13 years, are delighted with their daughter Eman’s BMT success.
“We are very excited about this great news. Our daughter has been suffering from this terrible disease since her birth. She has had numerous hospital stays and thousands of blood tests that have caused her to endure severe pain and frustration. We have no words to express our joy. We are proud that our son was 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 son abroad for treatment,” said Madiha.