My name is Danielle, but everyone calls me Dani. I am 45 years old and was diagnosed with common variable immune deficiency (CVID) in early 2018 and then granulomatous-lymphocytic interstitial lung disease (GLILD) in August 2019.

The most surprising part of my story is that I share it with my 18-year-old daughter

We were diagnosed with CVID a month apart. In both our cases, it is the CTLA4 gene that is compromised. I have asked my brothers to be tested for CVID because they both show symptoms, but neither has. My 21-year-old son has not been tested for the faulty gene but he doesn’t have symptoms and his IgG and IgA levels are both normal.

My childhood was marred with monthly tonsillitis and ear infections, and so many injuries that I lost count – I am adventurous and have no fear

I was born lactose intolerant and suffered massively when drinking milk. Believe me, being at school at the age of four and telling people you are allergic to milk is hard work! Free school milk was not a happy thing for me. I think I was possibly the only person who was pleased when Mrs Thatcher stopped it! Anyway… that was the beginning of my stomach and digestive issues.

I had a mystery illness at the age of 12, which left me in bed, sleeping, for six weeks. I had some blood tests, mostly for glandular fever, which all came back negative, and I recovered. I had no further tests.

Since the age of 12 I have had pain and severe swelling in some of my joints. I have had many tests in England and France, where I lived for three years, including MRI scans. All have come back with nothing.

At the age of 15 I had my tonsils removed; they were so infected that they touched. Then, seven years later, I found a lump under my left armpit. The lump turned out to be a swollen lymph node. It was removed and found to be normal. Again, no further tests.

Throughout my adult life I have had problems with my sinuses and frequent infections. At the age of 26 I noticed that my thyroid was growing – it became uncomfortable to swallow but was not visibly noticeable. Obviously, I noticed it! Back then, I lived in France and investigations showed that there were nodules forming inside, causing the growth of my thyroid gland. I was given a radioactive treatment, which has rendered my thyroid completely inactive. I take thyroxin daily and the gland is now reduced in size.

I have also suffered with eczema my entire life. But, recently, owing to problems with my knee joint, I have found that taking anti-inflammatories has stopped the eczema. This has left me and my immunologist baffled. This one small tablet has also stopped completely the random pain I was experiencing. All discovered completely by chance because my dog injured me: Good boy! Having found this, I am very reticent to stop taking the medication. I have stopped and started, and each time I stop, the eczema and pain return: the eczema in a week or two, the pain immediately.

From 2011 to 2018 I suffered massively with digestive distress. I couldn’t go anywhere without knowing the location of the nearest toilet. Again, I had many tests, all of which came back negative. Five years later and I’d had enough; I had to try something. I had lost so much weight. I am 5 feet 7 inches tall and weighed 58kg at my lightest; I usually weigh 75kg. My poor physical health was affecting my mental health too. So, I started a gluten-free diet. Well, I’ve never looked back. I returned to my usual bodyweight and I feel so much better.

Throughout I have suffered with random pain, which I have always found eases with movement

My pain, I feel, worsens with inactivity. Fortunately, I have managed to walk marathons, do yoga, swim, ride, dive and generally be ‘normal’. I have also suffered with bouts of utter exhaustion; periods where I could work but would need to go to bed as soon as I returned home. I found that working shifts helped and enabled me to rest more.

More recently I have suffered with depression and childhood trauma

In 2016, I found the exhaustion and the pain overwhelming. Problems I thought I had dealt with came crashing back. (When the storm finds you, it does make you stronger. But I suppose you only know this on the other side.) 

I visited my medical practice as if I had a season ticket

At the medical practice, I met the one person who listened and took time to figure out what was going on. That person is my nurse practitioner. She was, and still is, amazing. She looked at my symptoms, and my daughter’s symptoms, and requested tests that had not been done before. Seriously, one blood test is all that was needed to discover our hypogammaglobulinemia. Then, the failed vaccines – and voila! In saying that, there are hundreds of tests; it’s just a matter of asking for the right one.

I started my subcutaneous infusions in December 2019 and have had massive rewards

I can now stay awake beyond 7pm. My family are having to learn to communicate with me again! I have an allotment and although I should be shielding because I am vulnerable to COVID-19, I have been visiting it. The much-needed therapy that gardening provides warms me every time I’m at my allotment. I only enter if the gate is open and never visit at the weekend. My partner and I were planning a move to the country, so I could enjoy gardening at home. COVID-19 descended, however, so we have put all our plans on hold.

My brain fog is much reduced thanks to my immunoglobulin infusions

There are so many little wins with those small bottles of elixir. They, to me, are priceless. I have spent my life thinking that being ill is the norm and perhaps I was imagining the pain and the fatigue. Everything I did, I really had to push myself. Now, I find that I don’t have to dig deep, to find the reserve. It is amazing.

I cannot tell you the relief and the feeling of inclusion I have knowing that: a) I’m actually ill – albeit with a genetic disorder, and b) I’m not the only one. We’re all part of this.

Posted May 2020