I'm Nirmal Parmar, from India. I'm now in the United States with my wife and child, Mihir, for help with his medical treatment. In the following account, I tell how the life of our newborn child in India was saved with the help of Dr. Rekha Gohel and the support of doctors in the U.S. I recount our experience with the rare, life-threatening disease, maple syrup urine disease.
Birth and First Days
My son Mihir was born on July 4, 2003. Our family was filled with joy and happiness after the normal birth of our healthy baby boy. It was a great feeling to become a father and have my dreams fulfilled. My wife, Mital, was discharged the very next day, and we went home with our newborn to rejoice with family and friends. On the third day, my father, who is a doctor, found something unusual in Mihir's behavior.
That same day a local pediatrician was contacted and a neurologist examined Mihir. He was showing some body posturing movements, and my father and the other doctors suspected Mihir was hypertonic. The blood and CT scan reports were normal, except that some toxic levels in the blood were high. Mihir was then hospitalized. His condition was worsening, and we were all worried about him.
The pediatrician was not able to diagnose him, and two days later, at 7 days of age, Mihir was flown to the Hinduja Hospital in Mumbai. This was a terrible and confusing experience for us. Mital, Mihir's mother, was shocked and rushed to Mumbai along with many other family members. Dr. Rekha Gohel, Mital's sister, who lives in the U.S., was in continuous contact with us. She and her family were worried too.
Early Hospitalization at Hinduja and Diagnosis
Mihir was admitted to the ICU for newborns at Hinduja Hospital under Dr. Vrajesh Udani, a leading neuro-physician from India, and Dr. Soonu Udani, the pediatrician in charge of ICU. Mihir was in poor condition and connected to several monitoring machines/instruments. Routine blood tests were done several times a day, and his urine was sent to Japan for further tests. The toxic blood levels were affecting Mihir's brain, and he was going into a coma. The doctors suspected a metabolic disease because no drug or treatment was making a significant change in Mihir's blood levels. My wife and I and other family members felt so helpless. The days and sleepless nights passed with more worries and tension.
After a week of many MRI's and other tests, Dr. Vrajesh Udani diagnosed the problem as a rare metabolic disorder, maple syrup urine disease. My family and I were stunned to hear that there were no doctors in India who treat MSUD. We never imagined anything like this could happen to us. Mihir's aunt, Dr. Rekha Gohel was our only hope. I sent her daily reports by e-mail, and we kept in contact by phone.
Post Diagnostic Treatment and Recovery from Coma
As soon as we had a diagnosis, Dr. Gobel searched for information and learned of a metabolic center in Pennsylvania that is dedicated to treating MSUD and helping families to manage the disease. She met personally with Dr. Strauss from the Clinic for Special Children in Pennsylvania. He reviewed Mihir's records and gave Dr. Gobel the supplements and medications needed to bring Mihir's toxic blood levels down.
Back in India, the doctors, unable to do much, tried to convince my family there was no hope for Mihir. But we had hope in Dr. Strauss and Dr. Gobel. We insisted Dr. Udani contact these doctors and learn how to treat our child. Dr. Strauss sent a detailed care plan. The doctors at Hinduja ignored it and kept trying their own methods. Dr. Gohel called the doctors, but they still would not respond. Against Dr. Strauss's advice, they gave Mihir a blood transfusion. That produced no change in levels and a second transfusion was done. Again the same outcome. Later they tried peritoneal dialysis, which failed half way through, and they had to stop. I was keeping doctors Gohel and Strauss updated and Dr. Strauss was not in favor of the treatment they were giving Mihir.
Meanwhile, Dr. Gohel was trying hard to figure a way to send the supplements to India. Frustrated with the way treatment was going, she decided to go to India herself. She wanted so much to save my child that she left her two young children and family on short notice and flew to India. As soon as Dr. Gohel arrived, she contacted Dr. Soonu Udani in charge of the ICU at Hinduja Hospital. The doctor refused to treat Mihir according to Dr. Strauss's care plan. Dr. Strauss called her personally and tried to explain. Higher authorities were contacted at the hospital, and the top management was asked to make Dr. Udani follow the guidance of Dr. Strauss. Under pressure, Dr. Udani finally agreed.
It was taking too long to test the blood levels at the hospital. Dr. Gohel and I contacted the laboratory and asked them to contact Dr. Strauss about how the tests are done in the U.S. Dr. Gohel, my brother-in-law and I kept watch to make sure the right treatment was given. We visited many times at midnight to check Mihir's condition. Dr. Gohel managed to convince the hospital staff to give Mihir the desired treatment. She mailed daily reports to Dr. Strauss in the middle of the night because of the time difference between India and the U.S. Mihir responded to the new treatment, and his blood levels came down drastically. Even Dr. Strauss was amazed. In just four days, his levels dropped from 4000 µmol/l to 900, and he was out of his coma.
Going to the U.S. for Medical Support
With the support of Dr. Gohel, we made a quick decision to take Mihir to the U.S. for treatment. We had one goal in mind—to save Mihir. Ordinarily it takes 15 days to 3 months to get passports and visas. After September 11, procedures to get to the U.S. had changed, and it was not easy to do. Everyone in the family helped, and we were able to get Mihir's passport from Mumbai in just one day. Dr. Gohel got an appointment at the U.S. embassy here in Mumbai by meeting with the top authorities from the U.S. embassy. Dr. Strauss faxed a letter showing the urgency of the situation. Dr. Gohel's husband, Manish, faxed a letter of support which was necessary for getting the visas. The embassy cooperated, and we had our visas in two days!
Then there was the problem of Mihir traveling in an airplane. Critically ill patients have to go through a medical checkup to ensure safe travel. The airlines have their own panel of doctors who make the final decision. Dr. Gohel called the British Airways doctors in London and managed to convince them to let Mihir fly to the U.S., and the tickets were granted.
Dr. Gohel is a doctor of Internal Medicine and had no experience handling newborn babies in critical condition. Mihir was coming out of ICU, and Dr. Gohel had to manage Mihir all the way to the U.S. without any help or monitoring support. She got a crash course from the doctors at the hospital. Mihir was being fed through an NG tube. Dr. Gohel packed all the dietary supplements for each two-hour feeding and individually packed the shots Mihir needed while traveling. Everything worked out like a fairy tale, and we were soon on the plane.
Being new parents, my wife and I had no experience handling a newborn. It was Dr. Gohel's courage and determination that gave us strength to take my child to the U.S. Mihir, with a feeding tube and IV, was 22 days old when we moved him directly from ICU unto the plane. Dr. Gohel managed Mihir those 24 hours on the plane. The British Airways crew was also helpful.
We landed at the Newark airport on Sunday and left for the Lancaster General Hospital in Pennsylvania. Dr. Morton, founder of the Clinic for Special Children, was waiting for Mihir at the hospital, and we were in continuous contact with him. Mihir's condition was worsening on the way. Manish, Dr. Gohel's husband, tried his best to drive at the maximum speed to get Mihir there quickly, but Sunday traffic was heavy. Dr. Gohel was trying hard to manage Mihir, but he needed oxygen and other monitoring. We called 911 after we crossed the Pennsylvania line so he would not be taken to an emergency room in New Jersey. Mihir was transferred to an ambulance on the highway and taken directly to the ICU in the Lancaster General Hospital. Dr. Morton responded quickly. Mihir was admitted and a blood test was done. Here it takes 15 minutes to get the blood levels done, and the treatment was started quickly. Mihir did well and was discharged on the fourth day.
My family's Present Situation
We are living with Dr. Gohel in New Jersey. Now my wife and I manage Mihir's treatment with Dr. Gohel's help. We send blood to the clinic twice a week, and the doctors there guide us in adjusting the dietary supplements. Previously, we visited the clinic every week, but now we go every two weeks. Overall Mihir is doing well, and his growth is normal. Twice we took him to the Clinic in an emergency. Since Mihir was in a coma for a while, the doctors suspect some brain damage. As of now, his growth looks normal for his age, and he is doing well. This would not have been possible without the unconditional support of the Clinic for Special Children and the staff there.
Every day since Mihir's birth has been a day with some new hurdles. It's been hard on us to go through all this, and it is very difficult to explain it all. Mihir's disease is lifelong and with no medical support available in India, my family needs to stay here in the U.S. Like every newly married couple, we had many dreams and plans for our life. We had to leave India on very short notice, leaving my business, our families, our friends and all our belongings behind. Right now we don't know what else to do, as there is no way out of this situation. Many times I think of my past in India with my family and friends, but now the MSUD support group is our new family and friends. We share the same experiences and encourage one another. This has made MSUD easier for us.
Dr. Gohel's family is supporting and caring for us now. She helped us get our visas extended six months. I'm a qualified automobile engineer and own a small business servicing cars. My wife is a microbiologist and certified as a medical lab technician. But here in the U.S. we cannot get employment without a work permit and an employer sponsoring us. I'm trying hard to find a sponsorship.
- Nirmal Parmar
Trial of Family from India