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Fighting mito,
finding hope.

Paving the way in rare disease research

Personal stories

30 January 2023

The loss of her baby cousin to mitochondrial disease at only three months old inspired Natasha to dedicate her medical research to this incurable genetic condition that she and her family knew so little about.

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When Natasha’s cousin Krish was born in 2014, she and her family knew straight away that something wasn’t quite right. Krish was tiny, smaller than he should have been, and over the first month of his life he didn’t develop properly. Although he wasn’t meeting the milestones he should have, none of the doctors offered any explanation as to what the problem might be. At 3 months old, and very poorly, he was finally admitted to Evelina Children’s Hospital in London, where he was diagnosed by Dr Mike Champion with mitochondrial disease, something the family had never heard of. Sadly there was nothing more the doctors could do for Krish, and four days later he passed away.

Having lost a loved one to a disease they knew nothing about, and having nowhere to turn for support, Krish’s parents and Natasha struggled to deal with their feelings of loss and grief. In an effort to help her aunt and uncle, Natasha came across The Lily Foundation, and since then the family have appreciated having an outlet for their grief, and the opportunity to share their feelings with like-minded people going through similar experiences.

In 2015 Natasha accompanied her aunt and uncle to one of our Lily Family Weekends, and it was this that really sparked Natasha’s passion for research into rare diseases. Feeling nervous and unsure of what to expect on arrival, they immediately found themselves surrounded by other families with similar stories to tell, as well as a raft of researchers, consultants and specialist nurses. Finally they’d found a group of people who they could relate to, and who understood how they were feeling.

Natasha was amazed at the research already being done into mito, and since then she’s been blazing a trail with her own work. Having studied for a BSc in biological sciences at Oxford Brookes University, she went on to achieve a Masters in genetics at University College London, where she was also involved in work with Great Ormond Street Hospital, investigating rare metabolic diseases and newer, more targeted therapies. She’s now continuing her work at Brighton and Sussex Medical School, and has seen a huge change in the recognition of and treatment for rare diseases over the last 10 years. We asked Natasha what inspires her in her work:

‘Just seeing what Krish went through, I wanted to give back in some way’, she explained. ‘There's just so much work that we still need to do, especially with rare diseases. There’s not a lot of information out there, it can take a long time to get a mito diagnosis, and no one really knows where to start.‘

Natasha’s aunt and uncle are incredibly proud of her work. They see her regularly, living just up the road from her, now with their 5-year-old daughter, Riya. Although Krish passed away nearly 8 years ago, his mum has never forgotten the support she and her husband received from The Lily Foundation. As well as attending the Lily weekend, Natasha’s aunt is still a member of the Lily Facebook group, or ‘club’ as she affectionately refers to it, and always will be. It’s being part of this safe environment that’s enabled her to talk more openly about her experiences of mito, and offer comfort to others. Whatever question anyone may have, whether it’s about a symptom or treatment, there will always be someone who can give an answer, or some friendly advice, at any time of the day or night.

Natasha wants to share her story in order to raise awareness about mitochondrial disease and other rare diseases, and hopes to inspire other researchers to consider metabolic medicine as a speciality. Her family only had a few precious months with Krish, and looking back she reflects that they would have wanted more information from clinicians into what he was going through.

‘Seeing how many possible mutations there are, there’s so much scope, so many angles, and research offers many different ways of looking at a problem. I thought, I’ve just got to get on board and help out’ continued Natasha.

She’s currently working with Dr Davison at Great Ormond Street reviewing evidence behind the treatment for mito to see whether the treatment is beneficial for all patients. After she graduates, Natasha hopes to continue with her research, whatever direction it takes her in. One thing’s for sure – we’re looking forward to following her progress.

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