Doctors at Fortis Memorial Research Institute (FMRI), Gurgaon, successfully treated 10year old Ahmed, who was suffering from a rare genetic disorder ‘EpidermolyasisBullosaDystrophia’. The surgery was performed under the guidance of Dr.Satya P Yadav and Dr SatyendraKatewa, Consultants, Bone Marrow Transplant and Dr.Naresh Jain, Dermatologist at Fortis Memorial Research Institute.
EpidermolyasisBullosaDystrophiais an inherited connective tissue disease, which causes blisters on the skin and mucosal membranes. Young victims of the disease are often called ‘Butterfly children’ as the skin becomes as fragile as a butterfly’s wings.Ahmed came to India with contractures (a condition of shortening and hardening of muscles, tendons, or other tissue, often leading to deformity and rigidity of joints) of all major joints because of which he was unable to stand straight and only walk with great difficultly.
Dr. Satya P Yadav, Consultant, Bone Marrow Transplant, Fortis Memorial Research Institute said, “1 in 20,000 children are diagnosed with this rare disease that can be treated with bone marrow transplant (BMT).Ahmed weighed only 17kgs at 10years of age when he should have been at least 30kgs. He had sores and wounds all over his body especially joints and back. The skin around his mouth was very tight which made it difficult for him to open his mouth. Generally BMT is done in cases of leukaemia, thalassemia, bone marrow failure and immunodeficiency.We suggested BMT to Ahmed’s family as his sister’s bone marrow matched fully and helped in Ahmed’s treatment.”
Dr.Yadav added, “Post the successful bone marrow transplant, Ahmed’s skin started to heal. He is now able to move his elbow, knee and wrist joints. The improvement is around 70% more than what it was before the BMT.”
“We are grateful to the team of doctors at Fortis who have helped Ahmed heal and provided my son with a new lease of life. Finally, Ahmed will be able to lead a normal life. This BMT has been a life changing experience for Ahmed and his quality of life will improve tremendously,” statedMr.Hashim.
As the parents of the child are blood relatives, collegen gene was missing, an anomaly that resulted in Ahmed having this rare genetic disorder.