‘Butterfly baby’ awaits test results to treat skin disorder
4-year-old Oma’s disorder makes his skin peel off; bone marrow transplant may helpmumbai Updated: Jun 17, 2018 00:06 IST
Covered in foam footwear, foam clothing, soft headgear and specially imported dressings, four-year-old Oma Bana recently returned to his home town, Barmer, Rajasthan, from his first of many visits at Nanavati Super Speciality Hospital (NSSH). The doctors and staff who lovingly call Oma, ‘Butterfly Baby,’ are now anxiously waiting for him to undergo genetic testing and HLA mapping next month in Jaipur to ascertain the line of treatment, which will be the first-of-its-kind in India.
Oma suffers from an extremely rare skin disorder, Dystrophic Epidermolysis Bullosa (DEB). The genetic condition makes the skin so fragile and vulnerable that it can peel off easily. The severity of the condition depends on protein levels in the skin. If the levels are low, chances of skin erosion multiply. Mild variants have estimated EB to occur as frequently as 1 per 50,000 births. The more severe varieties like that of Oma are believed to occur in 1 per 500,000 births annually
“It’s a rare genetic mutation where protein Collagen 7 is missing from his gene, which makes the skin fragile, causes erosion and blisters along with frequent bleeding. In Oma’s case even his hands and legs are contracted and he was suffering from digestion problems, oral blisters, constipation, acid reflux and anaemia,” said Dr Raina Nahar, consultant dermatologist to whom the case was referred from medical social workers of Jaipur.
Dr Nahar added that Oma’s skin was so fragile that waking up from bed every day meant large patches of skin eroded and was stuck to the sheets with blood stains and injuries. “Even if one lifted him from the bed and kept him somewhere else, he would sustain injuries. Contractures in his hands and legs didn’t allow him to walk properly. Skin is the core protector against infections and bacteria around us, and without it, Oma is extremely vulnerable to even the smallest of infections,” Dr Nahar added.
As farmers in a village where rainfall is scarce, Oma’s family couldn’t financially manage his condition. While they realised the severity of his condition at the age of three, they took him to several hospitals but nowhere could they find a treatment specific for his needs. “We first took him to Barmer district hospital from where we were referred to AIIMS, Jodhpur, but the severity of his condition was such that we were turned back everywhere. A local news reporter got to know about our situation and wrote an article about Oma’s condition,” said his father, Balaram, 45.
The plight of the family attracted the attention of one of India’s largest steel conglomerates, JSW group, which took on the financial responsibility of the treatment and started the search for a specialist to handle the case. “Through our Mumbai office, we got to know about NSSH and decided to start the treatment there by providing any financial aid the family may need. They have three kids and the village is so small they have to travel over 2-3 kms to reach any road,” said public relations officer Lalit Pratap from JSW group. The group has already spent over Rs3 lakh for the treatment expense.
For over 7-10 days, the telemedicine facility of NSSH managed Oma’s condition and started counselling the family. Once the reports and diagnosis was confirmed, Oma was brought to NSSH on a special air bed to prevent any further complications on June 6.
“The child came to Nanavati in critical condition with blisters and peeling skin all over the body. His hands and feet were totally contracted, which hampered his day-to-day activities (mitten hand deformity). We first prepared the foam dressing for all his body parts like back, torso, hands, legs and buttocks and then devised the special foam clothing and footwear, which prevented skin erosion by 50-70%,” said Dr Nahar.
The family stayed at the hospital for a week and returned recently for a family emergency. The hospital has provided a trained male nurse to change Oma’s dressing and take care of him until his further tests.
The hospital has now planned an HLA mapping and genetic testing of Oma in a month in Jaipur so that the family does not have to travel all the way to Mumbai again. After the results, doctors will get to know if Oma is eligible for a bone marrow transplant, which will help his skin start synthesising Collegen 7 at healthy levels.
“The treatment has never been done in the country and this will be the first documented case of the same. There are indeed a lot of scientific papers on the bone marrow achieving over 77% success in the United States. We are hoping that the family, which was so excited to see Oma comfortable for the first time in four years, takes him back home cured,” Dr Nahar added.
First Published: Jun 17, 2018 00:06 IST