HYPER IgE SYNDROME

Hyper-lgE Syndrome is very rare. It is one of the Primary Immunodeficiencies in which affected individuals have recurrent infections in various different sites. Antibody levels are often high: particularly those of the IgE family, hence the name. However, this also means that antibody replacement therapy (such as intravenous immunoglobulin) may not necessarily help.

There is no clear-cut treatment or cure. Patients, their GPs and consultant immun-ologists have to work closely together, using preventative antibiotics and anti-fungal treatments where appropriate.

We really need to know how this condition arises so that we can work out the best treat-ment. Meanwhile, close co-operation with the patient and her GP has enabled Kate to lead a normal life and ensure her educational success.

A MOTHER'S VIEW

Kate was born on the 30 April 1974 with something wrong. She was our second daughter; Ellie was two and three quarter years old. When she was born, Kate was covered in septic spots all over and although the doctors tried to explain, nobody seemed to know why. As a baby, Kate had many skin infections which were treated with antibiotics. However, she continued to put on weight and generally thrive.

As the months went on, we noticed that she had floppy legs and a squint in one eye, but these seemed minor worries compared to her now worsening skin infec-tions. Instead of just spots, she began presenting us with abscesses, usually resulting in an admission to hospital. As a family, we were pretty healthy, so it was somewhat of a shock to find ourselves in the children's ward of the local hos-pital time after time. I felt doctors and nurses were at a loss to know how to treat Kate, as there seemed to be no reasonable explanation for her condition.

When babies and toddlers are ill they present parents with a particular prob-lem. The trouble is they cannot say ‘it hurts here or there’ and point to the affected part. It tends to be guesswork and intuition, and once or twice, I didn't guess so well. In February 1976, when Kate was 21 months old, she became ill with a chest infection. I didn't realise how ill she was - I thought she was teeth-ing. She was rushed into hospital with an abscess in her left lung. About half a pint of pus was drained from her lung but it had stuck together and failed to re-inflate, so she had major surgery to correct this. The next month was a night-mare. My husband and I took turns to stay with Kate. There was a flu epidemic at this time and we both succumbed. There was also Ellie to consider. My parents came to the rescue, taking her to and from nursery school, and bringing her to visit us in hospital. I felt it was important to keep Ellie informed and involved even though she was still very young.

Things got a little better and we became more vigilant, realizing that Kate was at risk from internal abscesses as well. We seemed to be at our surgery every five minutes with our ever patient GP - we practically moved in with him! Around this time, Kate was referred to Great Ormond Street Hospital to see Professor Soothill of the Immunology Department. In the next few years, Kate had one infection after another, either in her chest or somewhere on her body. These infections were all due to staphylococci: a particular type of bug, present everywhere but commonly found on the skin. It doesn't always cause disease, but can be very nasty.

When Kate was seven, we discovered that she had asthma - yet another problem, though this controlled with inhalers. On her eighth birth-day, Kate was admitted into Great Ormond Street Hospital with another abscess in her left lung. Although there was no bed for her, she was made comfortable on two armchairs and lots of cushions. They even produced a birthday cake for her.

Another anxious few weeks followed. Her lung was drained and this time it re-inflated by itself. She was given gigantic doses of antibiotics. Finally, Professor Soothill was able to tell us that Kate had an immunity problem for which my husband and I were unknowingly responsible. In fact, she was born with no resistance to staphylococci: a very rare condition. We all had swabs taken and it was later discovered that Ellie also had a staphylococcal problem which revealed itself in a much less severe way.

Kate was now midway through primary school and long absence from school was a problem. I kept in constant contact with her teacher, taking her schoolwork into hospital. The hospital teaching staff encouraged this. We became frequent visitors to the outpatients' department of Great Ormond Street Hospital. Unfortunately, Kate's lung had been left badly damaged by two abscesses and the upper lobe of the lung had to be removed when she was nine years old. She remained in hospital for several weeks.

Kate was and still is a bright girl and it was never too much of a problem for her to catch up with her schoolwork. She took part in all physical activities, but was allowed to stop whenever she ran out of breath. She was especially fond of swimming and displayed her ‘zip fastener’ scar around her left shoulder blade, much to the curiosity of her friends. Shortly after her operation, Kate's school year was going on a week- long trip to Minehead. Kate was desperate to go with her friends, so I tentatively approached her teacher. I realised that it would not be easy coping with a child who had just had major surgery as well as all the other children. However, she was most sympathetic and said that if necessary, they would ferry Kate around in a wheelchair. Kate had a wonderful time and was able to keep up with all the other children.

Kate started comprehensive school in 1985 and I realised that her unusual and peculiar problems might be overlooked. I visited her Head of Year and we agreed that she should be excused all winter P.E. During her second year, and again with the help of a friendly teacher willing to dole out antibiotics, Kate went on a school camping trip to Edale in Derbyshire. It was the second wettest camp on record!
Generally speaking, Kate has not missed a great deal of schooling. She went on to pass nine GCSEs with flying colours and has recently completed three A Levels.

Jean Davies

A PATIENT'S VIEW

When I entered Great Ormond Street Hospital in 1982 on my eighth birthday, I remember my stay to be rather enjoyable. Great Ormond Street is wonderful when you are young because it is child-centred and the nurses let you get away with far more than your parents ever would! It also meant a day off school to visit outpatients, which was always the trump card that I held over my friends.

The following year I had to go in again for an operation. I entered the hospital three days prior to the operation of which I still have extremely vivid memories.

There were two other children on my ward having operations that day and we all received our pre-meds to make us drowsy at the same time. The other two fell asleep in no time, but since pre-meds have a history of not working on me, I was still wide awake when the trolley came to take me to theatre. I still remember my father waving goodbye to me and walking away as the door of the lift drew shut. After what seemed like minutes I woke up, but I'm told it was something like 3 hours.

The next seven years passed without major incident. I have always led as normal a life as possible and the only real difference was that I took tablets each day and was allowed to stop during P.E. My parents have never wrapped me in cotton wool, for which I am very grateful. I remember one unfortunate head-master used to enquire, "How's the invalid?" to my mother when I was in hospital. I am not and never have been an invalid.

By the time I was 16, Great Ormond Street told me that I was too old for them and referred me to the John Radcliffe Hospital in Oxford. Prior to my last appoint-ment, I had had what I thought and what my GP thought was just a chest infection. I duly attended the last Great Ormond Street appointment in February 1991 but a routine X-ray revealed a group of abscesses in my left lung again. I found myself resident in Great Ormond Street Hospital once more and this time it wasn't fun. I must have been one of their oldest patients - I was even too tall for the beds and my feet hung limply off the end! I went into a mixture of shock and depression, which I felt that the doctors and nurses were quite surprised at and didn't fully appreciate. I was halfway through three A levels at the time and hadn't been ill with anything like this for seven years.

My stay lasted for two and a half weeks, during which I had treatment intraven-ously. When I was finally allowed home, it was with boxes and boxes of syringes, drugs and plastic gloves and a promise to continue my intravenous treatment every six hours.

That was over a year ago and so far I have been ‘healthy’.. I am now beginning to experience the more practical problems with Hyper IgE Syndrome. For instance, I found it very difficult to obtain medical insurance when I went abroad last year. This is in spite of the fact that I'd had an ‘MOT’ from my GP beforehand and Dr Chapel from the John Radcliffe Hospital had offered to write a letter to the insur-ance companies explaining my condition.

I am also currently looking for a job and never know how much to declare when the application form asks you about your health. Normally, I play it down and try to keep it out of the interview as much as possible.

Now that I am 18 and have left full time education, I am no longer eligible for free prescriptions. I am on drugs all the time and this could prove expensive because my condition is not included in the Government's list of exemptions. With the help of my GP and Dr Chapel, I have nevertheless applied for exemption and I am awaiting the outcome.

Since the last internal abscess, I have been very vigilant. It may happen again, it may not, but I'll worry about it if and when something happens. I refuse to let it get in the way of my life. Eventually, I want to become a Careers Officer and will pursue this aim to its natural end. Life is for living.

Kate Davies

Medical information published by the PiA is approved by our Medical Advisory Panel. However, it is intended for general guidance only, and should not be used in place of the personal consultation needed with your physician.