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Patient Story

Arthur’s Story

Arthur’s mum realised he had a problem with his vision when he was very young. He was diagnosed with Albinism which is genetic. Watch their video to meet them and learn why they opted to have Arthur’s genome sequenced.

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Patient Story

Tom’s story

Tom McKinley, lung cancer patient, family photo

Tom was diagnosed with stage 4 lung cancer in September 2011 just days after his daughter’s first birthday. He was told he could have just six months to live, or 18 months with treatment at the most.   

He began six cycles of chemotherapy, which was standard for his diagnosis, before going to see Professor Sanjay Popat at The Royal Marsden.

Tom says: “I saw Prof Popat a month after diagnosis and he said he would leave me on standard treatment and test me for a genetic mutation. He was confident I had an ALK mutation, due to my age and healthy lifestyle, and that the mutation would open up more treatment options for me.

“I had never heard of a mutation before, never mind ALK. I was a fit 34-year-old who thought I was invincible. I had a busy job and I was fit; the day before I was diagnosed I had swam a couple of miles.”

Tom tested positive for ALK and was put on a drug called crizotinib which targeted the mutation. It worked for two years, then stopped working. He started a trial drug called Alectinib, also an ALK inhibitor, but was taken off the trial for radiotherapy and two operations on metastases in his brain. In 2014 he started a new targeted treatment called ceritinib. Four and half years later he switched to Lorlatinib.

He says: “I’m now on my fourth targeted drug so far. These drugs weren’t even available at my time of diagnosis- that’s how quickly research is moving. I have learnt it’s about staying in the game long enough for something new to come through.

“It’s been almost nine years now since my diagnosis. In the past couple of years we have become more relaxed about the future and have the confidence to plan ahead a little more. We have also had the third child we’d always wanted. The limited side effects of these targeted drugs have allowed me to enjoy so many important parts of our family life.

Professor Sanjay Popat, Consultant Medical Oncologist, said: “As lung cancer specialists, we’re not used to being asked questions like ‘should I have another child?’ and it’s extremely rewarding to see so many patients doing better than ever. Patients with lung cancer historically had chemotherapy, which made them feel extremely unwell and extended life by just a couple of months. Now, we see more and more patients getting on with their lives and living longer.”

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Patient Story

Alex’s Story

Find out about the rare disease that he was diagnosed with as a child, Noonan syndrome, and how his recent genetic diagnosis of LEOPARD syndrome is changing their view.

Hear from Alex about his experiences of living with his rare disease, as well as his plans for the future.

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Patient Story

Jessica’s Story

Jessica, 4, recently received a diagnosis of her rare condition. Her diagnosis means a treatment could be recommended too. She took part in the 100,000 Genomes Project, together with her parents, at Great Ormond Street Hospital, part of the North Thames NHS Genomic Medicine Centre.

All three donated a small sample of blood and their genomes were sequenced.