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Cystinosis: A personal story

Lena Forsyth guides us through her unique journey, from being diagnosed with a rare genetic condition to landing a job in biomedical science.

In June 2001, at seven months old, I fell ill and was admitted to the Royal Aberdeen Children’s Hospital. Lots of tests were done and I was diagnosed with nephropathic cystinosis. This is a rare genetic metabolic condition that affects every single cell in my body. Most people have never heard of cystinosis before, but that isn’t a surprise since it only affects 2000 people worldwide. In people with cystinosis the amino acid cystine gets trapped in lysosomes and crystallises. This build-up damages all tissues but mainly affecting the kidneys and eyes. Living with such a severe and invisible illness is no mean feat – I have a strict regimen of medications, hospital appointments and blood tests. In the past 20 years, I have overcome many challenges and received a huge amount of care from multiple departments across NHS Grampian. The only way my condition can be monitored is via blood tests, such as urea and electrolytes, full blood count and white cell cystine; this ensures I am on the correct doses of medication. But what happened to the tubes of my blood every time I visited the nurse was a complete mystery. All I knew was that they were taken to the “labs” and some tubes travelled over 300 miles.

“What happened to the tubes of my blood every time I visited the nurse was a complete mystery”

Firsthand experience

I discovered biomedical science during a careers lesson at secondary school. Scrolling through the biology section of the website, biomedical science jumped out at me. When I read that the role of a biomedical scientist was to test and analyse samples, it was like I had found the missing piece of the puzzle. I knew I wanted to do something biology related, and biomedical science seemed to fit the bill. So I applied and was accepted into the Biomedical Science Programme at Robert Gordon University (RGU) in Aberdeen. However, this wasn’t where my story began with RGU. I had visited the research labs at RGU a few times as a child. There was a team there researching novel drugs for cystinosis and I always enjoyed my visits to the research labs. I also took part in RGU’s Access to Life Sciences Programme in 2017 during my final year of secondary school. This nine-week programme sealed the deal for me, and I knew if I was offered a place to study at RGU, I would grab it!

The last three years at RGU have been unforgettable and I have surpassed my own expectations, achieving the NovaBiotics “Best in Stage 3”. I have enjoyed the modules, met some lovely people, developed the skills I need to be a scientist and improved my confidence. The support I have received from the staff and my personal tutor Rebecca has been outstanding. During my second year, I had the opportunity to go on placement in the biomedical labs at Aberdeen Royal Infirmary (ARI) and to say I was excited would have been an understatement!

I couldn’t wait to unlock the mysteries of the labs, crossing the threshold into a place that had been vital in the diagnosis and monitoring of my condition. I had no idea what to expect but I was curious.

Over the six weeks, I explored all the main labs at ARI. This allowed me to experience firsthand what each discipline was like, learning from the people who work there day to day. I had the privilege of helping around each lab I visited, and that feeling was so special since I knew that I was impacting on each patient’s treatment even just in a small way. I spent my final fortnight of placement in haematology and biochemistry, the labs where most of my samples are analysed.

It was interesting to finally learn exactly what happened to samples like mine. One thing that made my first day in biochemistry so special was that my training officer gave me and my lab partner a tour and pointed out areas of the lab and specific analysers that would be relevant to my samples when they came to get tested.

Nephropathic Cystinosis

Nephropathic Cystinosis is a rare inherited metabolic condition caused by receiving two mutated copies of the CTNS gene on chromosome 17. It affects approximately one in 200,000 births. Cystinosis can also be classed as a lysosomal storage disorder – the membrane transporter for cystine in the lysosome is non-functional meaning cystine gets trapped, builds up and crystallises leading to organ and tissue damage. Firstly, affecting the kidneys and eyes, then progressing to other areas, such as muscles and thyroid. It is usually diagnosed before two years old. There are a large variety of symptoms e.g. failure to thrive, Fanconi syndrome, excessive thirst, nutritional and bone problems, stunted growth and photophobia. Treatment slows the progression of the disease, allowing for longer lives.

Full circle

I have been studying from home and my university experience has been disrupted due to the pandemic. But recently I have started my first job in the NHS as a Biomedical Support Worker in the haematology lab at ARI.

When I received the offer of the job I was overwhelmed by every emotion, but mainly joy. This showed to me that my determination and hard work had paid off. I realised I had come full circle, since

I am now working in a lab where my samples are analysed as a patient.

It is important for me to remember that each tube that passes through my hands is not just another tube of blood, it is a person who needs these vital results to aid their diagnosis, or monitor their condition and treatment. I know what it is like to be in the shoes of a patient and can empathise with what they are going through. The anticipation of waiting for results to decide if medication doses need to change can be quite an anxious time.

Unbeknown to me at the time, my experiences as a patient led me down the path of biomedical science. Who would have thought I would go from the little sick girl, screaming as a nurse tried to get the needle in my arm to become the person who is involved in processing other patients’ samples? Once I graduate next summer, I would like to continue to work in NHS Grampian to progress to a biomedical scientist and beyond. My aim is to continue to give back to a service that has helped me stay healthy throughout my life and be involved in providing the same high-quality results for patients throughout the region. I am proud of my story so far and immensely proud to wear the NHS badge. Now I am looking forward to see where my career in biomedical science takes me.    


Image Credit | Supplied-by-Lena-Forsyth| Science-Photo-Library

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