Posted: Thu 24 Nov 2022, 05:05 PM
Doctors in Abu Dhabi have successfully performed a bone marrow transplant (BMT) on a two-year-old Pakistani expatriate girl who has an extremely rare and life-threatening genetic disease that has caused several serious infections since birth.
Dr. Zainul Aabideen, Head of 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 seemed like a healthy, happy baby. However, within days she developed an infection, which was treated with antibiotics. Her parents were unaware that their seemingly healthy baby was very sick. Over the next few months, Eman developed multiple infections of his ear, chest, skin, and mouth. These viral, bacterial, and fungal infections resulted in multiple hospitalizations and multiple rounds of antibiotics. When she was nine months old, her parents had seen infectious disease experts who ordered genetic testing based on her background.
Tests confirmed that Eman had phosphoglucomutase 3 (PGM3) deficiency with severe combined immunodeficiency disease (SCID).
Dr. Aabideen and his team conducted further assessments and investigations to determine if she was suitable for a bone marrow transplant, the only treatment for this disease. As Eman and his brother were close, it was decided that his brother would be the donor.
“The patient and the donor have undergone the required investigations. 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), a rare genetic condition 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 in the PGM3 enzyme caused the SCID.
“The most common feature of SCID disease is recurrent severe infections from birth. Although infections can be temporarily treated with antibiotics and antiviral medications, they will come back. The only permanent cure for these types of diseases is early diagnosis and bone marrow transplantation. Early diagnosis of this disease is rare. Usually by the age of one year, most babies with SCID die of serious infections unless doctors diagnose it early and perform BMT,” said Dr Suchdev.
Dr. Fulvio Porta, Director of Pediatric Bone Marrow Transplantation at Spedali Civili Hospital, Italy, and International Advisor for the Pediatric PID BMT Program at BMC, said: “Usually the success rate of SCID PID after BMT is up to 90 percent if diagnosed early and the BMT process started early. The success rate is generally less than 50% if the diagnosis is late and the patient had several infections before the transplant. »
Even though the tests and investigations carried out for Eman indicated that she could undergo a bone marrow transplant, the success rate must have been lower because she had had several infections in the past.
Overcome all obstacles
Eman was admitted on July 7 and the team successfully completed 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 problems or recurring infections. Once she passed this milestone, the medical team at Burjeel Medical City described the transplant as very successful.
“Although in her case she had multiple infections in the past, she showed signs of success early on. On day 13 after BMT, she showed a sufficient number of neutrophils. A more accurate genetic test for success is the chimerism test, which she had on day 14 after BMT. The chimerism test results clearly show that his BMT passed,” Dr. Aabideen added.
Dubai parents, Mudassar Farooq Farooq Ali, an account manager, and Madiha Mudassar, who have lived in the country for 13 years, are delighted with the success of their daughter Eman’s BMT.
“We are very happy with this excellent news. Our daughter has suffered from this terrible disease since birth. She had multiple hospital admissions and thousands of blood tests causing her intense 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 in Burjeel Medical City, otherwise we would have had great difficulty taking our child abroad for treatment,” Madiha said.
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