My name is Alison, I am 32 years old and I suffer from a rare genetic defect that manifests itself in autoimmunity and immunodeficiency. The specific disorder I have was only recognised a few years ago and I received my diagnosis shortly after.
I was diagnosed with Type 1 diabetes as a baby and remember being reasonably healthy as a child. From my teens, I started developing more autoimmune conditions, seemingly collecting a new one every couple of years. Sometimes I ended up in hospital being quite ill and left the doctors scratching their heads, but after each diagnosis I was put on the appropriate medication and got better again. At one point I had a lump removed and was diagnosed with lymphoma. Several frustrating months went by while no treatment was started, until eventually it transpired I had glandular fever – the condition originally being ruled out because my body did not react in the ‘normal’ way.
In my mid-twenties I started to get repeated ear infections and burst eardrums, and then developed a chest infection that didn’t shift for about two years. My chest specialist eventually thought of testing the immune system, found that my immunoglobulin (IG) levels were low and referred me to the immunologists. Blood was taken from my family and sent off for genetic analysis. In the meantime, my cough was brought under control and I was feeling better again. Getting the lab results back didn’t change much because there was so little information about my condition, but the big relief was the confirmation that my sister (who had been well) did not carry a faulty version of the gene and therefore my nieces and nephew would be fine.
I started on subcutaneous (sub cut) immunoglobulin at the beginning of 2017, which I administer at home. I had been following PID UK for a while by this point and seen plenty of stories of people on sub cut, so felt reassured that it wasn’t a big deal. Personally, I find it hurts more if I sit still, so I try to use the time to clean and tidy or do something useful.
Living with PID
Managing a rare disease can be difficult because there are no easy answers – there isn’t always enough data to determine the best course of treatment, and you don’t know if some new symptom is benign or significant. At the end of the day, having a good quality of life is a huge factor, and that means different things for different patients, so I’m very grateful that my immunology team take the time to understand my lifestyle and outlook, and I feel like I am involved in the decisions.
The most upsetting symptom for me is the brain fog; it is so unpredictable and it’s not easy to explain to people. I find it easier to hide away during those episodes – it is a good excuse for a boxset binge. I was reassured when an immunologist told me it’s a very common complaint among his patients. Another frustration linked to having lots of conditions is the sheer amount of time they take up: the routine appointments, the pharmacy visits, the admin, the monitoring… and that’s before getting ill!
I like the fact that my immunology department is very flexible and I can just email or pop in, and my employer is understanding about the time I need to take off. There are some positive sides to having a rare PID diagnosis. Doctors are generally interested in my case and I get well looked after; I usually get a private room when I have to go into hospital; I get to work from home when anyone is ill; and best of all I like the fact that PID is a hidden disability, so I can largely forget about it during a healthy period.
I have found these things helpful:
- Get plenty of rest, especially if you start to feel ill. Accept that occasionally you’ll need to cancel plans at the last minute. Sometimes it’s better for your overall health not to go out rather than push yourself and then be too tired to hold a conversation anyway.
- Keep a list of current medicines and doses on your phone to show people who ask – it’s quicker than talking through them. It’s also useful to keep an accurate written history of doctors, medications and symptoms because you never know what you’ll be asked about years down the line.
- Online groups, such as the PID UK Facebook group, are a great resource for tips and advice, and for knowing that you aren’t the only one going through these things.
Posted November 2017