My name is Michael. I am 39 years old and have Wiskott–Aldrich syndrome (WAS), which was diagnosed when I was three months old.
Whenever anyone asks me what WAS is, I always say I have a low resistance to infection and bruise easily. Eczema is another common symptom, and sometimes your immune system can start attacking your own body.
My journey to diagnosis
My journey to diagnosis was, fortunately, extremely short. WAS had already been diagnosed in some male relatives on my mum’s side of the family, so when I was born my parents were already aware that I might have it too.
One of the main symptoms of WAS is a low platelet count, which means you bruise more easily and are prone to bleeding. My parents noticed these symptoms when I was three months old. They contacted a paediatrician who had treated members of the family in the past and, after tests, the diagnosis was confirmed.
I think early diagnosis was very helpful for my family and me. There was no mystery to the frequent childhood illnesses that I picked up or the large bruises that appeared after a mishap, such as falling off my bike.
Having said all that, there was a considerable delay in diagnosing some of the complications of WAS that occurred later on. I developed vasculitis, inflammation of the blood vessels, in my mid-twenties but this was not picked up until after I had suffered three life-threatening episodes of bleeding from burst aneurysms, so I have experienced firsthand the problems that a delay in diagnosis can cause.
How my Wiskott–Aldrich syndrome has been treated
Through childhood and up to the age of 19, I was well looked after by a paediatrician in the children’s hospital and by my GP. The only treatments I needed were antibiotics for various infections, inhalers and physiotherapy to help prevent chest infections and, once or twice, platelet transfusions to tackle episodes of bleeding.
At 19 years old, I was transferred to an immunologist in the ‘adult’ hospital. This happened after we made contact, via mutual friends, with another family whose son had a different PID. Until this time we had felt that I was something of a one-off and that nothing more could be done to help, but now we learned that there were quite a few people with different conditions affecting their immune systems. These people were all being seen by immunologists and some were receiving a different sort of treatment to help prevent infections, intravenous immunoglobulin (IVIG) infusions.
Starting immunoglobulin therapy
I started my IVIG infusions when I was 20 and have received them every three weeks since then. The first few infusions were done on the hospital ward but my dad and I were quickly trained to carry out infusions at home. This was much more convenient and caused less disruption to my daily life. My wife, Lesa, has also been trained to assist me, so I have two helpers available now.
The products and service have both improved over time and now it takes less than three hours to set up, do the infusion and tidy everything away. Everything I need is delivered by courier and the clinical waste is collected from the house every so often. I have been offered the newer subcutaneous treatment but I prefer to stick with IVIG because you only have to do it every three weeks.
I had my spleen removed in 1998 to increase my platelet count, which kept falling to extremely low levels.
In March 2000, I underwent a bone marrow transplant at St Bartholomew’s Hospital, London, after my condition had deteriorated to the point that I was very unwell. This was quite a tough time but definitely worth it because I have been much better since. I had what is known as a mini transplant. This does not require such large doses of chemotherapy beforehand compared with a conventional transplant, and afterwards you still have a proportion of your own ‘old’ bone marrow.
I take a good handful of tablets every day and these fall into three broad categories: preventative treatments to protect against infections or the adverse effects of other medicines; immunosuppressants to control the autoimmune aspect of WAS; and cardiovascular drugs that I take after suffering a small heart attack in 2006.
I attend a number of different hospital clinics but the immunologists and my GP are kept informed of all developments.
How having Wiskott–Aldrich syndrome affects my daily life
In my opinion I lead a normal life although I realise it probably does not look like that to people without a chronic medical condition. I do have a lot of hospital appointments to fit in but I am used to it now so it does not bother me; it just requires a little bit of planning and organisation.
I work four days a week as a community pharmacist. Pharmacists typically work from 9am to 6pm without any proper breaks and I found that I could not really cope with this five days a week. It was too tiring and I found that if I did pick up an infection I did not have enough time to rest. Cutting back to four days made all the difference and as most of my hospital appointments take place on my days off it has made life easier for my employer too.
Planning holidays takes a bit more consideration too. My wife and I avoid any destination that requires extra vaccinations and you need to be very thorough when organising travel insurance. You have to declare all pre-existing medical conditions and, in my case, this puts most insurers off, but there are specialist insurers out there who will take you on. It is expensive but travelling without proper cover is too risky.
When I am out and about I tend to take a few precautions to try and avoid picking up infections. I keep an alcohol hand gel in the car and use a First Defence nasal spray, particularly in winter. If I see someone sneezing or blowing his or her nose in a pub or restaurant I stay as far away as possible!
My top tips
- Do not lower your expectations.
It is important to maintain a positive attitude and not let your condition prevent you from achieving your full potential. Some things will be more of a challenge but they can still be achieved. For example, when I was at school and university, I missed a lot of time due to illness but I still made it through my exams by always making an effort to catch up with what I had missed and asking teachers for help if I needed it.
Do not dwell on what you cannot do, there will be plenty of things you can do to live a fulfilling life.
- Know your condition and treatments.
This does not mean searching the internet for every possible complication or side effect – that would drive you insane. I mean being able to give a simple explanation of your condition and knowing the names and doses of any drug treatments. You can get a print-out of your current medication from your GP surgery to keep with you if you find it too hard to remember. A bit of knowledge can make it easier for other people to help you.
In a huge organisation like the NHS it is all too easy for things such as referral letters and test results to go missing. It should not happen but occasionally it does and, when it does, it is sometimes quicker and easier to sort it out yourself with a few telephone calls or an email.
This one is definitely a case of do as I say, not as I do!
It can be applied in two ways. First, if you are not well or have some new unexplained symptoms, do not sit there hoping it will eventually go away by itself. The sooner you seek help, the sooner the problem can be sorted out, hopefully before it gets serious.
Secondly, do what you can when you are well. With a PID there will inevitably be times when you are not well enough to do certain things you like to do. If you make the most of the good days then the bad days are less frustrating. I would add that even bad days can bring good things. You might not be well enough to do an activity you had planned but you may find time to read a book or watch a film that you had not previously got round to.
My wish list for helping people affected by PIDs
- A cure. Obviously this will be top of everyone’s list but it may be possible some day with advances in gene therapy or other technologies.
- Resources. I would hope that all PID patients have access to specialist immunology services wherever they are in the UK.
- Awareness. I wish that all healthcare professionals could be more aware of PIDs and that this would reduce delays in diagnosis.