Two-year-old beats rare genetic disease after receiving bone marrow from her brother in Abu Dhabi
Eman was born with rare congenital disorder that weakens the immune system
Abu Dhabi: A two-year-old Pakistani girl in Abu Dhabi has received a successful bone marrow transplant from her four-year-old brother to treat her rare genetic disease.
Months after her birth, Eman was diagnosed with severe combined immunodeficiency disease (SCID), an extremely uncommon genetic condition that leaves infants susceptible to severe infections right from the time they are born.
So although she appeared happy and healthy at birth, Eman developed an infection within days that had to be treated with antibiotics. Over the course of the next few months, she continued to develop multiple infections of the ear, chest, skin, and mouth. The range of viral, bacterial and fungal infections led to multiple hospital admissions and many rounds of antibiotics.
By the time she had turned nine months old, her parents had consulted infectious diseases experts, who ordered genetic testing based on her history. The tests confirmed Eman had SCID.
Donor brother
At Burjeel Medical City, Dr Zainul Aabideen, head of the department of paediatric hematology, oncology and bone marrow transplantation, 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 showed her brother was the best donor for her and he was fit for donating bone marrow for his sister,” Dr Aabideen said.
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, paediatric bone marrow transplantation consultant at the hospital, there are more than 300 types of PID identified so far. In Eman’s case, a deficiency of the PGM3 enzyme caused the disease.
“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 (BMT). 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 the transplant,” Dr Suchdev said.
“Usually, the success rate of SCID PID after BMT is up to 90 percent 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,” explained Dr Fulvio Porta, director of paediatric BMT at the Italian Spedali Civili hospital, and international advisor of the peadiatric PID BMT programme at Burjeel Medical City.
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.
Transplant surgery
Eman was admitted July 7, and the medical team successfully performed the transplant 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-transplant 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 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 the bone marrow transplant. The results of the chimerism test clearly show her procedure has been successful,” Dr Aabideen said.
Grateful parents
Eman’s parents, accounts manager Mudassar Ali and his wife, Madiha, are overjoyed at their daughter’s successful bone marrow transplant.
“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 that have caused 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,” said Madiha, who has lived in the UAE for 13 years with her husband.
“And we are grateful that the UAE has bone marrow transplant facilities at Burjeel Medical City, otherwise we would have struggled a lot to take our child abroad for the treatment,” she added.