As told by Ben’s mum, Helen …

Our amazing son, and only child Ben passed away on 4th September 2016 aged just 11. Ben was a beautiful, bright, funny and special boy who lit up our world and inspired us all with his strength and bravery. As with all mito cases (I’m sure!) Ben’s story wasn’t straightforward.

We found out when Ben was 3 months old, that he was profoundly deaf, and had hypotonia – or low muscle tone, which basically meant he was a bit floppy and late reaching milestones like sitting and walking. When he was 1, Ben was really unwell with a nasty virus and blood tests showed that his kidneys weren’t functioning properly, it was at this time that mitochondrial disease was first mentioned.

The doctors suspected mito because there were multiple systems involved – with his hearing, his low muscle tone and now the kidneys – but we didn’t get a confirmed genetic diagnosis till Ben was 9. It took 8 years of waiting, and many different tests, ruling out a whole host of other conditions. 

We found out that my husband and I were carriers of a faulty RMND1 gene that we had both passed to Ben, this was the cause of his difficulties. There were only about 30 known cases of this particular gene at that time.

Ben with his family

Soon after the genetic diagnosis, Ben became poorly again and investigations revealed a previously unknown heart condition – dilated cardiomyopathy, as well as a deterioration in his kidneys. We were given the devastating news that there was no curative treatment they could offer, a heart or kidney transplant was not an option due to the mitochondrial disease. The palliative care team became involved and referred us to our local children’s hospice.

From then we had about 17 months with Ben, during that time we were in and out of hospital as Ben’s health fluctuated. Ben was incredibly brave and went through a lot – including a year of dialysis at home, which was very hard to cope with. Whenever we could we spent time making wonderful memories with our boy. Ben’s health deteriorated significantly and he passed away at the start of September, on the day he would’ve been starting secondary school.

We miss our beautiful boy every moment and are lost without him.

Read Paige’s story or back to main What is Mito page

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