My name is John, I am 33 years old and was diagnosed with XLA when I was nearly eight years old. My younger brother was diagnosed when he was four years old.
XLA has a sex-linked pattern of inheritance and usually affects only males. XLA affects the body’s ability to fight infection.
My journey to diagnosis
From birth I had repeated infections and was a regular visitor to our GP’s practice. I was seen by several consultants and registrars, none of whom came up with a correct diagnosis. For many years I was treated as having asthma and failure to thrive, and over-anxious parents.
Some months after having had yet another serious illness it was by pure chance that finally I had bloods taken by an on-call junior member of staff and my parents were given a diagnosis. As the condition was regarded as being very rare, the consultant looking after me felt there was no need to test my brother even though he presented similar symptoms to myself. It was a further year when a research doctor asked to see me and said she felt it would be worth testing my brother.
As my diagnosis was some years ago very little information was available to my parents, and our local paediatric consultant knew very little about the condition and made no referrals for me to see a specialist. My parents made their own enquiries by writing to people all over the country to try and find out more about the condition and who might be able to help us. At that time our GP practice knew nothing about PIDs and the staff did not communicate well with us.
How my XLA is treated
Following many years on intravenous immunoglobulin (IVIG) home therapy treatment I switched to twice-weekly subcutaneous immunoglobulin (SCIG) home therapy treatment. My treatment came about mainly due to the fact that the plant that manufactured my IVIG ceased to operate and I had to make a choice at that time. I chose to have SCIG because I could carry out and take responsibility for my infusions. I take a few prophylactic medicines.
As I have been having immunoglobulin therapy for nearly 25 years it is very much part of my life and fits around my lifestyle. My levels fluctuate and I do have breakthrough infections; however, I would consider myself to be fairly healthy. I sometimes have swelling at the infusion site but nothing major. When I was a child it was down to my parents to ensure that I received the safest appropriate treatment and they very much coordinated everything around our family life. We have a good family system for collecting everything we need for infusions.
I have a cough that I have had since birth and I just live with it. It is probably more annoying for other people than it is for me.
How having XLA affects my daily life
The only adjustment I have to make is to allocate time for my infusions. As I have had XLA since I was a child and was always encouraged to be the same as everyone else, I have never considered my condition to be an issue.
When my brother and I were young our parents were told that we would not be able to work in certain fields as it wouldn’t be particularly good for us. However, we are both in occupations which probably aren’t the best for someone with a PID, but this is what we want to do. Obviously I have to be sensible as far as travel is concerned but this is something that I learned very early on, and it is just normal for me. If there is a sport I want to try, I will do it; being active is very good for me. As I was always encouraged not to regard my condition as something that would hold me back, I do not expect my employer to treat me any differently from my colleagues.
Since being referred to a wonderful immunology department as a child, I have been looked after by excellent consultants and nursing staff, and I look forward to this continuing throughout my life.
My top tips
- Make sure you are looked after by an immunologist and his or her team.
- Ask questions; don’t be fobbed off.
- Take responsibility for your condition and follow the guidance of the medical team.
- Live life as well as you can and do not let your condition hold you back.
My wish list for helping people affected by PIDs
- A cure
- A high-profile programme to raise awareness of PIDs
- Government commitment to invest in research for all PIDs.
