A young girl in Mauritius, an island in the Indian Ocean, has recently been given a second chance at a normal life after receiving a rare disease diagnosis and treatment in an Indian Hospital.
From the age of 2, this thirteen year old girl had intense rashes on her skin. She also suffered from kidney ailments to the point of her having serious trouble walking and was in a wheelchair. Her lower limbs stiffened and she was taking many immune suppressants to control her autoimmune disease.
The young teen had to take a cocktail of over 10 different medicines used to treat her different ailments
Finally, she was diagnosed at a hospital in India called Aster CMI Hospital.
A genetic study was done at the hospital which determined that she has complement C1q deficiency.
After her diagnosis, doctors told her the best chance for recovery would come from a bone marrow transplant. Her father turned out to be a perfect match and after his donation of marrow and a successful transplant was done, the young teen is now facing renewed opportunity with a greatly improved quality of life. She is still taking medication and will have to be monitored over the next several months.
In the entire world, only 10 cases such as this young teen have had successful transplants.
Dr. Bhattad, one of the two surgeons for her surgery, said that every month 3 or 4 new children are being diagnosed with rare immune deficiency. Dr. Bhattad therefore stresses the importance of increasing visibility and understanding about these rare diseases to doctors and the public. If this does not happen, children will not have the diagnosis they need and will continue to die.
Transplants for children with severe autoimmune disease deficiencies is also more complicated and dangerous than that for other conditions. And children can be more susceptible to having internal organ damage and serious infection from the transplant.
The doctor talks about the need for educating the general population about warning signs of C1q deficiency and letting physicians know how to successfully diagnose and treat these patients to save lives and prevent the high rates of death especially in infants.
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