Bangalore: When Rukhsat was born three years ago in a remote village in Orissa, she seemed like a princess to her parents. What her parents Kabir Khan and Dulari Begam did not know was that their beautiful baby was suffering from a rare combination of two serious diseases.
Rukhsat had severe Tetralogy of Fallot (TOF), a congenital heart defect and Brittle Bone Disease (Osteogenesis Imperfecta in medical parlance). Rukhsat suddenly used to become blue, had difficulty breathing, and was extremely irritable and even faint at times. She would also tire easily and pant while moving.
In addition to her heart problem, Rukhsat also had a genetic bone disorder due to which all her bones were extremely weak and fragile. The genetic defect resulted in the weakening of collagen, a basic building block of tissues in the body.
Moreover, due to her bone disorder, Rukhsat got fractures all over her body very often. Some of her bones would break even when her mother Dulari picked up her child lovingly. As a child, she had no way to express her agony except to cry.
Her parents were clueless as to why Rukhsat was crying so much even though she wasn’t hungry or when there was no apparent discomfort. Initially the doctors in their village were also perplexed. Then, they diagnosed fractures on her tiny hands and legs even though she never had any kind of fall.
In the course of next two years, she had several spontaneous fractures and most of the time, she would be encased in a plaster. Her family were at times scared even to pick up a crying Rukhsat lest she suffered a fracture.
The combination of the heart defect and bone disorder had depleted Rukhsat’s health completely and something needed to be done soon.
But her parents never gave up hope even though they came from economically weaker background and depended solely on Kabir’s wages from a job at a canteen in Bangalore for their livelihood.
When Khan and Dulari brought Rukhsat to the Consultant Paediatric Cardiologist Dr. Ravi Narayan at Manipal Hospital, he found her case really challenging. “The child was suffering from Blue Baby Syndrome (Tetralogy of Fallot), in addition to the Brittle Bone Disease. Due to a hole in her heart and narrowing of a blood vessel (Pulmonary Artery), deoxygenated blood would flow into the Aorta, making the baby turn blue,” said Dr. Narayan.
After a detailed review with Dr. Prasad Krishnan, HoD of Cardiothoracic & Vascular Surgery, it was decided that the baby would need to undergo an operation to save her life. According to the doctor, the review of literature showed only one other such case, but no heart surgery for TOF was performed in a child with Brittle Bone Disease.
The surgical team led by Dr. Krishnan decided to perform the heart surgery despite her associated Brittle Bone Disease as the effects of the heart disease were life threatening. This involved splitting the breastbone to get to the heart and operating inside the heart with fragile tissues due to the associated genetic disorder and finally putting it all back together. All this was successfully accomplished.
“The child was unable to get oxygen for a living due to her heart disease and was dangerously blue. We had to perform the heart surgery despite her associated brittle bone disease, which made it a very rare case,” said Dr. Krishnan.
The three years in Rukhsat’s life were a constant fight between life and death. But she had shown amazing tenacity for survival.
With her heart problem corrected, her parents and doctors hope that Rukshat will continue to win against all odds.
