My name is Alison and I have IgA deficiency and DiGeorge syndrome (22q 11 deletion).
During a medical examination at primary school, the nurse discovered that I have scoliosis (curvature of the spine)
My curve is very slight, however, so doctors decided not to operate. I was in and out of hospital for other reasons, though. An operation to have my ears pinned back wasn’t successful. I also had my adenoids out and hereditary varicose veins removed.
I remember starting high school and then being absent for a whole month owing to a ‘wet lung’
I had to stay indoors for a month. I then had pneumonia twice and continued to be in and out of hospital. Throughout this time, I visited many consultants in the hope of finding out what the problem was. Every time, nothing was found and I was left feeling disappointed.
My sister, Karen, read an article about a ‘boy in a bubble’ and drew parallels between his experiences and mine
My dad wrote to my GP to ask if my immune system could be tested. My GP gave us the go-ahead.
My sister came with me to my immunology appointment
My appointment overran by 45 minutes as I told the consultant my story. The doctor who took my blood sample was confident that the results would come back negative, but he said he would telephone on Monday to let me know. The results came back positive. I cried, laughed and hugged my family.
My parents underwent gene testing but the results came back negative, so I am the only one in the family who has a primary immunodeficiency
The only way my parents are impacted is that one of them has to sit with me while I do my subcutaneous infusions at home, just in case anything goes wrong.
After I transferred to home therapy, I was able to live on my own and become more independent
I worked part-time before my diagnosis but decided to retrain at college and pursue a new career. I am now working with old people, which I love.
My advice to anyone at the beginning of their journey is to never look back and don’t regret anything that you have achieved in life
Remember that your team is the best source of information. Don’t be scared of pricking yourself; there is nothing to subcutaneous infusions. And I say that as a person who has problems with her veins.
Immunodeficiency UK has helped me to make a few friends along the way
If I am struggling, feeling low or suffering from an infection, my friends are there to support me. However, as helpful as this is, I would always recommend you get in touch with your immunology team, because they are the experts.
My wish for the PID community is that researchers discover a tablet to treat primary immunodeficiencies
I would also like the PID community to know that having a primary immunodeficiency should not rule your life. Accept your condition and you will learn to lead a normal life.
Posted July 2020
