The Story of Primary Immunodeficiencies
"Despite the challenges, the story is not one of despair"

UK 1998

"You should stop worrying, take your son home, and feed him properly"

(quote: - a Paediatric ENT Consultant, 1981)

'Listen, my child has a lot of living to do'
From the book edited by Sister Frances Dominica, founder of Helen House, Oxford, UK - the world's first children's hospice.

This is Tom's story. Tom is his real name - he wants no pseudonym because he sees this ultimately as a positive story of achievement, both personal and medical, as (at the time of writing) he has just passed his 21st birthday. He sees this as a statement of reality, which may be helpful to others. It should be borne in mind that this account covers many years. The insidious decline in Tom's well-being, and his steady improvement following proper diagnosis and treatment for his underlying condition, all took place over an extended period of time. The insidious nature of this decline, added to the lack of knowledge of immunodeficiency in medical circles at that time, must go some way towards accounting for the medical failure to respond in the early days.

Those early days

The year was 1976. Tom was our second child. He was a typical round, chubby, very happy, and always very hungry baby! It is impossible to be sure when, exactly, his breathing problems became apparent. We simply never actually managed to move him into his own room at night, because by that time, whenever he lay down, his breathing became quite irregular. He would often completely stop breathing and had to be shaken to start breathing again. This seemed to raise no specific medical concerns at the time because of his well-being during the day - despite his continual snuffly breathing.

At 15 months, Tom experienced his first hospital visit! He awoke in the morning with no more than a mild cold. By lunch-time he was scarcely rousable - with a very high temperature. By two o'clock I had him in the doctor's surgery where he was given an injection of antibiotics. We returned home with a promise that the doctor would revisit Tom a couple of hours later. With no evidence of improvement, the doctor immediately admitted him to hospital. With his breathing now becoming very laboured, the doctor suggested not waiting for an ambulance. I called my husband, Robin, home from work - luckily only a few minutes away - and we bundled Tom and his four year old sister into the car and drove flat out to hospital. We were admitted straight onto the children's ward who were expecting us. By this time his breathing was so distressed that his chest was caving in with the effort.

Whilst the response of the hospital staff was immediate and effective in medical terms, in those days parental involvement, which is sought as standard in the UK nowadays, was quite out of the question: We were all pushed out of the ward, leaving Tom alone with the medical staff. We could see through the ward window that he had been put into an oxygen tent, where he was given further intramuscular antibiotics and a lumbar puncture.

The way in which he had to be held down for this treatment proved to be something which affected Tom's reaction to needles, doctors, and even towards such innocuous equipment as stethoscopes and thermometers, for many years to come. Even the suggestion of a blood test could make him frantic. We always reckoned that following such a suggestion his reaction could destroy a doctor's surgery in about ten seconds flat! Remembering back to those black days, it is now a source of some amazement to us that Tom now carries out his own venepuncture for his IVIg treatment without a murmur!

We were eventually allowed back onto the ward. I stayed with Tom until he went to sleep but I was not allowed to stay the night. I went back the following day and, with the antibiotics taking effect, he was discharged in the evening. The diagnosis was pneumonia.

Two months later, on Easter Sunday, Tom went to bed after a busy day with his sister and cousins, looking quite unwell - rather than just tired. An hour or two later, although asleep, his breathing had become so shallow that he made no sound at all - despite his chest visibly straining to draw breath. We simply couldn't wake him. Our supportive family doctor was called again and he came immediately and gave Tom intramuscular antibiotics again. These seemed to work for him this time and he recovered well.

By this time, however, the sound of Tom's difficulty in breathing had become so loud that he could be heard all over our large house. It even became a 'family joke'! Our doctor, however, recognised that there was more to Tom's illnesses than simple childhood infections, so he referred him on to a consultant paediatrician.

Is 'not listening to "neurotic" mothers' simply part of a consultant's training!

Unfortunately, this paediatrician saw Tom on a comparatively healthy day; he didn't listen to the history I gave him about Tom's problems, and said that he saw no cause for concern.

Tom's health stayed at this same precarious level throughout the rest of the year, until, shortly after Christmas, following his second birthday, I discovered him one morning with a very large bruise on his chest. We rushed him to our doctor again - who diagnosed a broken blood vessel in his chest caused by the effort of his breathing.

In view of our previous experience with the consultant paediatrician, we agreed to a direct referral to an ENT specialist. In order to avoid the National Health waiting list of six months, we decided to pay and go privately for this consultation. Thankfully, we did, because Tom was immediately admitted as an emergency case for tonsillectomy. The consultant said he had never before seen such enlarged tonsils in so small a child.

This time I made sure that I could stay in hospital with him since he was only just getting over the previous experience - which had led to bad nightmares. And yes! - although we were told that it was unusual for parents to be allowed to stay in for a tonsils operation - we were at last beginning to make the system work for us - and for Tom's well-being. Even so, they had to make arrangements for me to stay in the nurses' home, as there was no provision to stay on the children's wards.

After we returned home, Tom was of course well for several weeks - having been on prophylactic antibiotics following the tonsillectomy. It was also the first time he had been able to breathe well enough to make the normal noises associated with childhood play - such as 'brrmm-ing' his cars along! This proved to be a very short healthy respite period in his early years.

He was still only just two years old!

One important side effect of this episode was our first awareness of how Tom's problems were beginning to impinge upon his sister Nikki's life. We had had to postpone her birthday party in mid January due to Tom being in hospital. And it wasn't long before she questioned why Tom was getting all the attention, and, very sadly, why couldn't she be ill sometimes?

'Stop worrying, take your son home, and feed him properly'!

Over the next couple of years, Tom endured frequent coughs and colds, and a constant state of severe catarrh. This led to hearing difficulties and also to a severe loss of appetite. He simply wasn't eating anything and was gradually losing weight.

I asked the Health Visitor to check his hearing before he started school at four and a half years old, and this highlighted a deficiency. He was referred again to the ENT specialist, who advised the insertion of grommets to drain the mucus from his ears.

Tom started school, but was always too tired after school to want to play with his friends. He suffered perpetual headaches and 'clamminess'. He was still attending the ENT clinic that prescribed Actifed for the catarrh - when in fact he was actually suffering from chronic chest infection. Although he was getting thinner and I could feel the rumbling in his chest, when I asked for further tests, they said that he was 'not bad enough for tests'. The consultant even told me: 'stop worrying, take your son home, and feed him properly'!

With no effective treatment, Tom became more and more lethargic; he was too tired for normal family activities - even fun on holiday. This situation staggered on for two more years, punctuated with regular courses of antibiotics.

At the age of six, he needed a further operation for grommets. Despite a high temperature and cough during the week before the operation, they said he was fit for the operation. He took longer than the other children to recover from the anaesthetic and his cough was worse. Nevertheless, he was discharged home with more Actifed.

He had only been home a few hours when the diarrhoea started. He lost two kilos in 24 hours. We now had a new family doctor who had just started work three days previously, so I insisted on my husband coming with me in case I needed support for the fact that I was not simply a neurotic mother! Luckily this was not necessary; our new GP was even more attentive than the one who had just retired. He immediately sent Tom for a chest X-ray and diagnosed pneumonia again, and gastro-enteritis.

Progress- at last . and a diagnosis?

Additionally, Our new GP concurred with our request for a second opinion in view of the previous reaction that we had had from the ENT clinic. We asked for a referral to Great Ormond Street Hospital but he suggested instead a referral to another local consultant paediatrician under whom he had trained and in whom he professed considerable faith. We were very impressed with our new doctor's attentiveness and real interest in Tom's problems, so we agreed to his recommendation.

This proved to be a turning point in Tom's life. Not only did our new paediatrician insist upon hearing the full story, but he also determined to get to the bottom of the problem. He insisted on seeing Tom regularly, and, starting from his own specialism of allergies, eventually the all-important blood test showed up the real problem: antibody deficiency (hypogammaglobulinaemia). Tom was immediately put on long-term Septrin. At last we felt that we were getting somewhere!

However, the chest infection continued and at one clinic the X-rays showed that Tom's lungs had partially collapsed. He was admitted to hospital for intensive physiotherapy and antibiotics in an attempt to clear his lungs. A bronchoscopy showed that his right lung had cleared, but that he had bronchiectasis in the left one. The only option was surgery. This took place in the Brompton Hospital in London shortly afterwards and was a total success, despite the further enormous trauma and pain of major surgery for Tom. It was also, indeed, traumatic for the whole family.

Tom's lung function is now perfect.

Needles!!!

Once the initial trauma of the operation had subsided, and with Tom on prophylactic antibiotics once more, we really thought that the problem had been solved. Not so! During one of Tom's post-operative check-ups, we were given the drastic news that although his lungs were repaired and would now grow again to function perfectly, there was no cure for his underlying condition of antibody deficiency. We were told that this would mean a weekly trip to London (taking a whole day) for him to have intramuscular injections of immunoglobulin.

For Tom, this was worse than a death sentence! He had spent his whole life being subjected to needles - one way or another - and had by this time quite understandably developed a major needle phobia.

Most children (and adults!) dislike injections. For Tom, this had developed into a severe psychological problem. We simply didn't know how we would be able to get him to hospital each week - let alone persuade him to have the injections. We discussed this with our own paediatrician. He got in touch with the only consultant immunologist he knew of, and subsequently told us about a new alternative: intravenous immunoglobulin (IVIg) therapy. Although this involved a much longer process, it was only necessary every two weeks and would be less painful. One other benefit of this was the offer from the paediatrician to undertake the therapy at our local regional hospital. This however, didn't address the problem of the basic needle phobia, which, thankfully, was at least recognised as a genuine problem by the paediatrician.

He referred Tom to a consultant clinical psychologist for three months before the treatment could start. Since virtually everyone within the family, as well as all the nursing and medical staff we had encountered, had spent hours and hours trying to talk Tom into accepting the benefits of his injections, we had severe doubts that this psychologist, a seemingly extremely mild and placid man, could succeed. But succeed he did! After three months, Tom was able to walk into the hospital ward and actually offer his arm for the infusion - even without the benefit of 'magic' Emla Cream, which we didn't discover until later.

The technique Tom was shown for overcoming his phobia was a mixture of relaxation and coping methods through hypnotherapy (not to be confused with hypnotism!). Before every hospital visit he went through a personal programme of relaxation.

And so . now to customise the treatment!

The next hurdle to overcome was the incursion made by the two-weekly hospital visits into both his schooling and his social life. The hospital was simply not geared up to treating immunodeficiency patients. The staff were mostly kind, but we could never guarantee that a doctor - or a suitable treatment room - would be free at the appointed time. And the wards were always full of coughs and colds - and often much worse! Equally importantly, we seldom saw the same doctor twice - which meant being unable to build up a good patient:doctor rapport. Also, the often long delays before treatment tended to destroy the value of the relaxation programme.

Again we consulted with our paediatrician to see if Tom could perhaps have his infusions closer to home in a very small local 'cottage' hospital, under the supervision of our own family doctor. Our paediatrician agreed - so long as our doctor was happy. However the doctor went one stage further and proposed instead the use of the treatment room in his surgery - which would give us even greater flexibility over the treatment timing. This helped enormously to relieve Tom's absences from school, since late afternoon was often a good time for everyone. Tom also had grown to like and trust our doctor.

But then, yet more hurdles.

Although this was the turning point for Tom as far as his chest infections were concerned, as soon as it seemed that one problem was solved, another arrived to challenge us. Tom was now eating a little better, but he had started to pass blood and to have malabsorption and stomach problems. He was referred to yet another specialist - a gastro-enterologist in London. Another doctor; another hospital; another area of London; yet more tests! These involved admission to hospital for a most uncomfortable colonoscopy - a particularly intrusive and embarrassing procedure for an 11-year-old boy.

The results were inconclusive. There were suggestions of Crohn's Disease and Inflammatory Bowel Syndrome; and from our own paediatrician came the suggestion of possible food allergy. No treatment however proved effective, and Tom had to put up with this debilitating problem for several years.

By this time, we realised that each of these specialists was only addressing his own field of interest. Failure of the immune system can affect any other system of the body. We needed someone who could address Tom's problems as a whole. Another colonoscopy had been proposed, which Tom - and we - were very much opposed to, because we felt it would not only be intrusive again, but also a complete waste of time.

It was at this time that I first heard about the HGG (hypogammaglobulinaemia) Society through a newsletter sent to us by our paediatrician's immunologist contact. I attended the first AGM of the HGG Society, where I was, at last, relieved to meet others with the same experiences as us. It was also there that I was advised that it was essential for Tom to be under the care of a consultant immunologist.

This was the second major turning point in Tom's life.

A consultant 'what'?

This, of course, was the person we needed to oversee all of Tom's problems. There were then very few Clinical Immunologists throughout the whole of the UK, but I was given the name of one in Oxford. Our family doctor and paediatrician were both happy for the necessary referral to be made, and Tom had his first consultation within a few weeks. Brilliant!

The consultant immunologist went through Tom's history in detail. This was the first time that his treatment would be defined specifically to his personal needs. His immunoglobulin brand was changed, and the dose was increased significantly - although he also went onto a three-weekly programme.

There wasn't an instant improvement in Tom's condition, but we now felt that his problems were really being addressed. In particular, much attention was paid to his bad stomach problems. After various further investigations into the cause - again, none of which identified a specific diagnosis - as a somewhat reluctant last resort, Tom was given steroid treatment. The principal concern over this treatment was that steroids tend to suppress further the immune system. In Tom's case, however, the results were very positive. By the time he went to his senior boarding school (he had managed to cope with boarding school for several years previously - despite all his problems) his stomach was virtually back to normal.

One particular concern that we had for Tom, was about his small stature. His immunologist made the joking comment that if he wanted to be taller, he should have chosen taller parents! Nevertheless, he was somewhat small for his age. Because there is sometimes a link between growth hormone production and immune deficiency, she referred Tom to a colleague in the same hospital for growth hormone tests.

Thankfully, this turned out to be the first positive test Tom had had: He was shown to be producing loads of growth hormone - and to prove this he grew 15 cms within a year!

So where do we go from here?

The accent now turned towards Tom's response to having to live with a lifelong disorder. The treatment was now correct, but it was for life. He was now a teenager and wanted to be no different from his peers. To this end he hid his disorder from everyone. This was perfectly normal and understandable at that age, but something he was struggling to come to terms with.

By that time, we as parents were heavily involved with the Primary Immunodeficiency Association (PiA), the patient support group in the UK. This was to a large extent our way of coping with what had been many extremely harrowing years. But Tom was simply not interested. There is no doubt that this was a particularly difficult time for Tom to come through. He scarcely wanted to discuss his disorder with anyone - either friends or professionals.

When he joined his senior boarding school, Tom was obliged to register with the school doctor. Some trepidation at the thought of losing the support of our own family doctor was immediately allayed by the caring response of both the school doctor and the sanatorium nursing staff. They ensured that he could continue his treatment in as much privacy as he needed.

And so . on towards home therapy

He eventually felt sure enough to be able to put on his Emla Cream in class before his treatment was due. He still finds it helpful to use Emla cream, and there is little doubt in our minds that the use of this mild anaesthetic cream is just as beneficial to adults as it is to children.

One thing Tom had always said was that he wanted to be in control of his condition. He stated that he would be doing his own infusions by the time he was 18. With the encouragement of the Immunology Home Therapy Nurse from his hospital - who had supported him in his treatment both at his home surgery and at school - he learned how to do his own infusions. This even included venepuncture: quite a turn-around for someone who had had such a violent needle phobia as a child. And yes! - he achieved this landmark before his 18th birthday.

Tom is currently at university in Southampton, studying physiology &endash; although he would really like to become a doctor! Here again, the university Medical Centre rallied round to support him in every way possible - including monitoring his infusions during his first year. His hospital Home Therapy Nurse visited the Medical Centre for his first infusion there to ensure that they understood the details of his treatment. In his second year he took his independence one stage further. Having moved out of the university halls of residence into his own house with several friends, he now carries out his infusions at home with the support of those friends - who again have been instructed by his immunology nurse as to what to do in an emergency.

Our own - very sharp - learning curve.

There are several morals to be gleaned from this story. We were slow - very, very slow - in starting to demand what I as a mother knew instinctively to be right. Were we wrong to persist with our strongly felt views that education in a boarding school was still the best option for Tom - because of the poor quality of the local schools? We really don't know. What we do know, though, is that throughout all these problems, Tom maintained a determination to take part in everything he could - whether it was school games or an outdoor activity centre. Similarly, though, there is absolutely no doubt that he would have enjoyed his early life far more had he been properly diagnosed and treated from the beginning. Our knowledge now that that loss of well-being - at such an important time of life - should have been preventable, is one of the most difficult conclusions for parents to come to terms with.

Those early years were an appalling series of up-hill battles - without achieving anything to begin with. Eventually (and sadly this was initially largely due more to our persistence - and some degree of luck - than to medical judgement!) the correct diagnosis was achieved; the correct treatment was put into place, and Tom can now live life to the full. He recently spent several weeks touring Russia and the Eastern block countries - somewhat against the advice of his immunologist at the time, it has to be said!

And so - on to the future

So, now Tom has begun to come to terms with his lot. This was largely due to the support and understanding of those around him: His doctors and nurses - both at the hospital and, earlier, at school; even his peers (somewhat to his surprise!) and, of course, his family.

Whilst we all hated those early days and everything they threw at us, we are all now very positive about the future. Immunology - in the UK, at least - is growing in status every day. Treatments are being refined and new ones developed. Primary Immunodeficiency support organisations are being developed in many countries, and an international 'umbrella' support organisation - IPOPI (the International Patient Organisation for Primary Immunodeficiencies) - was launched some years ago to work with immunologists and immunology nurses throughout the world.

And more recently, an international specialist immunology nurses group (INGID) has also been formed. I have now been a trustee of the UK PiA since 1989, and as a qualified nurse, I represent the PiA at INGID. My husband, Robin, is also treasurer of IPOPI, so we are both well and truly involved with primary immunodeficiency.

Tom is now also becoming involved with his own national organisation, the PiA, and represents them as their 'young adult' delegate to IPOPI. He has now really come to terms with his lot, and, we believe, has seen the need to help others through his own experience, - something he is extremely well qualified to do.

Cynthia L Fanshawe, RN