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I lost two babies to a rare genetic disorder

Dr Tanvir Jamil writes movingly about the tragic deaths of his children and how he coped

In 1990, the day before my MRCGP viva, my wife gave birth to a bouncing baby boy. It was a difficult 18-hour labour, but our son Hasham looked healthy and beautiful and he was home three days later. According to Muslim custom, he was circumcised when just a few days old ­ a decision we were later to regret.

Hasham gained weight well but had a small scratch on his right cheek that would not heal. Then he started developing small blisters at the back of his head, under his arms and the small of his back ­ wherever his skin rubbed against his clothes. These lesions also failed to heal.

My senior partner immediately referred Hasham to my old paediatric boss. Hasham was about three months old and growing well, but we noticed some of his fingernails seemed to be red and inflamed like a combination of a fungal nail infection and paronychia. Paediatricians at our local hospital were worried this might be chronic candidiasis and referred him to Great Ormond Street (GOS). My wife and I grew more concerned but naively were still confident the 'problem' could be solved. After all, Hasham was thriving, alert and reaching all his milestones.

We had the usual SHO clerking taken at GOS and Rod Phillips, a registrar from the immunology department, saw our son. By this time Hasham had lost a few fingernails, his right cheek had a small sore and his eyes looked a little inflamed. When he cried his voice was rather hoarse. Rod told us Hasham was suffering from laryngo-onycho-cutaneous (LOC) syndrome, also known as Shabbir's syndrome after the dermatologist who first described it in Pakistan a few years earlier.

Little was known about LOC syndrome at the time. It is an autosomal recessive disease found in Punjabi Muslims which appears to affect the mucous membranes. There were only 20 affected children in Pakistan; most died before the age of five. There were two cases in the UK. A majority of children affected had been born in consanguineous marriages, but my wife and I are not related. Many took up to six months to show signs of the disease.

Hasham's case was aggressive. The first signs were there soon after birth, but apart from the scratch on his cheek we just had not noticed them. Within 30 minutes of arriving at GOS we were told Hasham would probably die before the age of two. I don't think I believed them.

Hasham made it to 18 months. We tried to pack a lifetime into that short period. He was an intelligent, playful, loving child who liked to read, listen to music and hug us. But we had bad days too ­ bathtime took two hours because every single finger and toe had to be bandaged as they bled. Sometimes my wife called me home because a lesion would not stop bleeding.

He had developed more sores on both cheeks. The circumcision became inflamed and he often had difficulty passing urine. His eyes closed and he could not see. An operation was tried to unstick the eyelids but they stuck together again a few months later. He could not eat more than a few spoonfuls without vomiting. Special feeds made him sick.

On June 7, 1992, my wife put Hasham to bed and, as always, talked to him as he tried to sleep. Sometimes it was a story, sometimes just a little chat, always ending with a prayer. Hasham had become much worse over the previous few days and that night my wife whispered in his ear that it was all right for him to leave and that we would be OK without him. Our son died peacefully six hours later. We were both expecting Hasham's death but nothing can prepare you for the loss of your child.

My patients sent letters and cards of condolence. The most moving were from those who had also lost children. I knew some very well and yet would never have guessed at their loss. Our grief acted as a catalyst for us to try to do something about this still relatively unknown condition. We formed the Hasham Muhammad Jamil Trust Fund to raise money for research into LOC and increase awareness in the wider medical community.

Perhaps there were many more children with LOC, as yet undiagnosed. We ran marathons, my partners held a sponsored fast, and money came in from family, friends and patients. Rod Phillips felt the first step should be to collect blood samples from all families affected by the condition and had managed to get a genetic team to work on it.

We travelled the length and breadth of Pakistan collecting samples. Some children were mildly affected, others were severe and probably only had a few months to live. We took bloods from a family in France and two in England. The DNA was extracted in Melbourne and sent to a research team in Philadelphia. We did not expect miracles but I guess we felt we were doing something.

My wife fell pregnant again in 1997. This time with twins. With non-identical twins, there is a one in two chance of at least one child being affected. Our two girls, Iman and Shazia, were delivered by Caesarian section in December. They both looked well but a day later Shazia started to develop the hint of a scab under one of her nails. She had LOC.

We knew we would lose her but we also knew what to expect and how to treat her lesions. Her eyes closed very early on but innovative techniques at GOS to unstick the lids and prevent them closing up again were a success. Shazia progressed more rapidly than Hasham and passed away aged nine months.

Iman, her twin sister, was, thankfully normal. Bathtime took less than two hours with a healthy child, we could pick her up and cuddle her tight. There was as yet little news from the research team who by now had moved back from Philadelphia to Dundee. The only new information to surface was that LOC appeared to be related to junctional epidermolysis bullosa (JEB). The defect for JEB was around chromosome 18 and this is where the hunt for LOC was taking place.

We decided to go for another child because we wanted Iman to have a brother or sister, particularly as she had lost her twin. We knew the risk of another affected baby was one in four. Perhaps trying again was foolish, perhaps brave. It required a lot of soul searching at the time. The result was our son, Azzam, born two years later. He is healthy.

A few months after Azzam's birth we received great news from the human genetics unit in Ninewells Medical School, Dundee. They had identified the LOC defect ­ an area of three genes on chromosome 18. The paper will be presented at an international investigative dermatology meeting next spring to raise LOC's profile among the world's leading specialists and researchers. Now, for the first time, doctors would be able to offer a prenatal diagnosis.

People say we were brave to have gone through looking after two ill children. We weren't ­ we just did what any other parent would have done. Many say time is a healer. It's not. You just get used to the pain.

In my religion they say children go straight to heaven and drag their parents along with them. Perhaps my wife and I have two tickets to paradise.

What my children's illness taught me

 · I have more sympathy for children whether they have a major or minor illness. I take time to explain the problem to parents and make sure they are adequately reassured.

 · The loss of a child is more common than we think ­ people just don't tell you.

 · Having healthy children is not as easy as it looks.

 · Perhaps there is a reason for everything. Why was an LOC child born to a doctor in the UK? Research followed and now pre-natal diagnosis exists. Could a cure follow?

 · Going back to work is therapeutic. My partners, staff and patients were very supportive but gave me room too.

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