My name is Rachel, I am 19 years old and was diagnosed when I was seven with a type of PID called common variable immune deficiency (CVID), which is sometimes called primary antibody deficiency. My mother also has CVID but a slightly different version.
I do not make enough antibodies to fight infections, particularly respiratory ones, so I am very prone to getting coughs, colds and winter viruses. Once I get ill, the illness lasts two or three times longer than for other people. I also get very tired and have to make sure I get enough sleep in order to cope with my daily routine.
My journey to diagnosis
I was lucky to make it through my first year of life because I nearly died at six months old from an undiagnosed heart condition (patent ductus arteriosus), which was finally operated on at the Royal Brompton Hospital in London. The consultant told my parents, “From now on, you won’t see her for dust – she will just fly.” Sadly, this was not the case: just six months later, one day after my first birthday, shortly after my mother had finished breastfeeding me, I was in Eastbourne District General with a very serious chest infection, on antibiotics, in an oxygen tent, and was ill for several weeks.
From then on, for the next seven years, I was very rarely well – I had constant chest infections, coughed most nights and was always exhausted. I was a regular at our GP’s surgery. I was most ill during the winter months, with a few weeks’ brief respite at the height of the summer.
I was referred to several different hospitals, had different treatments, such as inhalers, antibiotics and strict diets, and several diagnoses, such as acid reflux, asthma, dairy allergy and lactose intolerance, but nothing helped.
Having lots of infections and being in hospital
My mum remembers that for about two days a month I would seem to wake up and have energy; the rest of the time I was either lacklustre or ill. Not surprisingly, all my development, such as walking and talking, and then my progress at school, was delayed. Nobody could explain why I was like this. Our GPs were supportive but mystified; my parents were told quite a few times that I would probably grow out of it, but I didn’t.
We struggled on, in a round of illness and hospitalisations, until one day, when I was seven, we were at an appointment in the respiratory department of the Royal Brompton, and my mum asked the registrar, “As Rachel keeps catching things, is it possible to check out her immune system?”
Mum had never heard of primary immunodeficiency, and did not really know what she was asking for, but we did get sub-referred to Professor Adrian Thrasher at Great Ormond Street, and very quickly by taking a few blood tests, the team there gave us the answer to all my problems. I have a variety of immunoglobulin deficiencies and am not able to make the right defences to normal coughs and cold germs.
This explained why I became ill when my mum stopped breastfeeding me – I no longer had the protection that breast milk supplies. Professor Thrasher said that even when I had not seemed ill, I had probably been suffering from low-grade infections, and this explained my extreme lethargy.
Transforming my health through immunoglobulin therapy
I started on three-weekly intravenous infusions of immunoglobulin and almost immediately my parents saw a difference in my energy levels and ability to cope. They describe it as if I had been sleepwalking through life and had now woken up. I started to catch up with my peers physically, socially and academically.
When I was 10 I was asked to take part in a trial for a new treatment, which meant I could infuse at home once a week. This treatment was subcutaneous, making it much easier and quicker because I no longer had to visit a hospital. It also meant I had good blood levels all the time, rather than ending the month with low levels, and this gave me better resistance to infections and also meant that I was no longer subject to the headaches and sickness that were caused by intravenous infusions. Subsequently the treatment was given a UK licence.
Great Ormond Street Hospital also did some detailed investigations of my lungs and found that one of them has not grown properly, and that I have quite a lot of damage to both. This means that when I get an infection my lungs do not get rid of mucus efficiently, and I have to do physiotherapy. I have found that swimming really helps my lung capacity, so I try to swim at least once a week. I can now swim over 2km at a time.
For the last four years I have done my own infusions. I still get ill fairly often, particularly in the winter, so have to take quite a lot of time off, and I do not have the ability to keep up with my peers; for example, I have missed a few parties and nights out.
Living life to the full
I work in a care home two days a week, as well as doing a college course in health and social care and human biology. I have nearly completed my gold Duke of Edinburgh award and I am hoping at some point to travel and to leave home to go to university. I know that my treatment will enable me to do both as it is easily transportable, so gives me the independence that I want.
Over the years I have had tremendous support from Great Ormond Street Hospital and the Royal Free Hospital. I attend clinic twice a year and in between I can always contact the hospital at any time. I have helped to raise funds and awareness for PID charities by doing fun runs and making speeches at different events.
Having the correct diagnosis and treatment has enabled me to do so much, and I really hope that more people begin to be diagnosed earlier as doctors become more aware of PIDs.
My top tips
My advice to a newly diagnosed person would be to accept your condition and focus on doing the right thing for you, to make your life work. This is not easy, especially if you are a teenager. If you are infusing, allocate a regular time during your week to do this – I always do mine on Sunday afternoon, in front of the TV. Keep fit, as this will mean you are less likely to get ill. Get enough sleep, as this will also help to keep you well. Make sure you have a healthy diet.
Being positive
Finally, be positive. Being diagnosed and getting the right treatment has made all the difference to my life and enabled me to do so many things. So although having a PID may be a daunting prospect at first, focus on the end result and what you will be able to achieve.
