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Personal Stories

Charlotte Briggs, Reuben’s mum, tells his story.

Reuben is nearly 4 and was diagnosed with GSD9a before he turned 2. My dad was diagnosed with GSD almost 40 years ago, so I was aware that it was in the family. At my first midwife appointment, when I was pregnant with Reuben, they asked me if there were any genetic diseases in either family. I told them about GSD but the midwife had never heard of it, so never wrote anything down.

Very early signs misunderstood

Fast forward to Reuben being born and at 9 days old his tummy was noticeably large. I thought it was because he was constipated. GSD was the furthest thing from my mind at this point, as I had very little understanding about the disease.

At 8 months old he was referred to a dietician and they told me to put him on smaller portions and semi skimmed milk as he was “obese”. With that he slowly deteriorated and he lost all his muscle tone in his legs, arms and back (he got scoliosis due to the lack of muscle in his back).

My dad’s mam recognised it

My nan (dad’s mam) recognised a lot of the symptoms, pulled me to one side and said she thought Reuben had what dad has. So I told the dietician and paediatrician at our next appointment and they referred us to a metabolic clinic. While we waited for an appointment Reuben was hospitalised twice because of his blood sugars. Every time someone examined him they mentioned his big liver, but no one knew what GSD was or wanted to take it on board, knowing he was going to see the metabolic consultant.

At last the diagnosis

Reuben improving after his diagnosis.

We saw the consultant when Reuben had turned 18 months and he took blood for a genetic test. It took six months to come back with a confirmed diagnosis of GSD9a. In the mean time, Reuben had weekly physio and a support worker and he walked just before he turned two. It was a long time later that he crawled.

Fast forward to doing much better

Reuben is doing much better, his symptoms are much better managed at home and in his childcare environment. He has hypos regularly and needs glucose monitoring. He eats carbs every 2 hours and we are managing to keep the threat of a peg at bay, at least for the time being. He overheats very quickly and is very sweaty. He’s smaller than all his peers and has a distended abdomen because of his liver. He’s less able than his friends when it comes to running, jumping or climbing but he has a go and that’s all I can ask of him. He’s a fabulous little boy and has proven himself quite resilient.

Another boy on the way

I’m 21 weeks pregnant with another little boy and there’s a lot of anxiety over whether he’ll also have GSD9a. But if so, this time I’ll be more prepared, I’ll have more support and I won’t be waiting as long for answers.