Living with cystinosis: The rare disease that upended my life, but taught me resilience

I HAVE CYSTINOSIS, a condition that causes an amino acid called cystine to build up due to the body not breaking it down normally.

This leads to crystals being deposited in the organs, especially in the kidneys and eyes. I was diagnosed when I was just eight months old, being tested due to my sister also having cystinosis.

Back then I was living near Norwich in England but, in 2021, my parents and sister moved to the West Coast of Ireland to start a new life by the sea in County Mayo.

When I was younger, I took a liquid medication to treat the condition, as well as eye drops to help treat the crystals in my eyes, and potassium chloride. I had to come out of school once a day to take the medication. I now take a range of medications, including blood pressure and immunosuppression drugs.

As I am getting older, my symptoms have increased. My muscle weakness is the main issue, in particular, my swallowing muscles and hand muscles. I do exercises to help maintain my strength, and I adapt my daily routines to minimise difficulty.

Medical supports

I attend yearly ophthalmology appointments, and I also attend a renal clinic every three months. In between these, I attend doctors regularly for checkups or if I’m unwell.

Diagnosis for the condition is very difficult, so I am grateful that, due to my early diagnosis, my symptoms were minimal. Excessive thirst and consequently urination were my main challenges. As I grew up and went through school, isolation was my main challenge due to the constant need for medication and time off from school due to sickness.

Making friends, arranging plans or doing anything out of my routine was very difficult. This affected me greatly. I did not enjoy school, but I kept going and ended up with good GCSEs.

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I struggled socially because I felt different from my peers. I was always afraid of sharing my disability with my friends due to fear of rejection. My main struggles came when I reached 19. I had the worst year. My kidneys were beginning to fail, and so I was going to need a transplant.

I also began to experience new symptoms in my abdomen, legs and hips. These went on for a few months, and I began to be able to walk properly or to sleep. Everyone was very worried, and it was a very upsetting time. I went to the doctors and hospital multiple times to try to work out what was going on.

Shocking diagnosis

Eventually, after many tears, failed appointments and an ambulance taking me for an emergency MRI, they found something on my spine. After a very difficult day waiting for news, I was rushed to another hospital to see a specialist spinal surgeon due to not being able to move.

This was when doctors discovered that I had a benign tumour. Luckily, it was removed successfully after two surgeries — the first being unsuccessful due to the complex position of the tumour.

After being told I may not walk again, I left the hospital following three tough weeks of recovery. Consultants told me that once I was able to walk on my own, my kidney transplant would be in the works.

Using this as motivation, the next four months were very hard on me and my family. I had so much pain and fatigue from my kidney function levels being low that it was making it very challenging to be able to recover at the speed I wanted for my transplant. I spent most of my days at home, my family supporting me, which I am, and will always be, grateful for.

As time went by, I was able to put the wheelchair behind me, and I began to walk independently again. Then, my kidney transplant surgery loomed, I was scared and very nervous, and had many conversations with the doctors before I was booked in.

I spent the night alone in the hospital before the big day. No sleep was had, but all I wanted was to be home and for it all to be done already. My dad had decided to donate one of his kidneys to me, and I am so grateful to him for this amazing gift. He went in first, and I was taken in shortly after. My mum looked after us both over the next week.

I recovered well after my transplant, but it was a struggle adjusting to the medication intake. I took it easy over the next couple of months, and I was grateful to finally be in a place where most of the medical trauma of the year was behind me.

Resilience

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This difficult journey taught me how quickly life can change and to be grateful and positive every day.

I faced more emotional and mental health challenges, which affected me in some ways more than the transplant itself.

After the spinal surgery, I grew afraid of going to hospital, even if it was just for something minor. My fear came from how quickly I went from being healthy to finding out I had a tumour, leading to me being worried that a minor appointment could lead to something like that again.

I found it very hard, and I sought out counselling to help me.

When Covid rolled around, this worsened my fear of being sick, and I became very isolated. It was another difficult year and a half of trying to stay safe inside.

There is so much to think about when it comes to cystinosis, not just the condition itself, but things that can occur outside of my control that could affect my ability to be healthy.

It means I am always on high alert, and I have many worries daily.

My number one lesson over the years of having a chronic illness would be to always get symptoms checked out, as something you may think is a small issue can lead to a very traumatic journey. I have learnt to trust my gut as I know when something is not right and know my body best. Life with cystinosis is tough, but I still make the most of my days.

Cystinosis Ireland is hosting a major international conference for people with cystinosis in Dublin from July 2-4. For more information on this rare genetic disease, visit www.cystinosis.ie.

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