This is Alphie, writes his mum Holly Wretham.
He didn’t have early symptoms
Alphie’s issue from birth was quite literally just chronic constipation. He didn’t present early with symptoms, other than sweating and a large tummy. It took going private and one particular doctor realising how large his liver was, to then put him through for genetic testing for GSD. As I write this, a year ago today we got his diagnosis – GSD9a.
He is now 3 years 6 months, but the many problems surrounding his metabolism mean he has the physical development of a boy of 18 months to 2 years.
A second diagnosis
Not only has Alphie got GSD9a but he also has an eating disorder called ARFID (Avoidant Restrictive Food Intake Disorder), or fear of food. It was previously referred to as Selective Eating Disorder.
Alphie has many symptoms of his GSD, although quite mild they still affect him day to day. He has very weak muscles and struggles getting around for long periods of time. He has a very swollen belly due to the size of his liver. Through the night Alphie has very low blood sugars and is at risk of hypoglycaemia.
Fitting a PEG seems to be helping already
The metabolic doctors have recently decided to fit Alphie with a PEG (Percutaneous Endoscopic Gastrostomy) as we can’t manage to feed him through the night to keep him safe. He is now on a 10 hour constant pump feed of milk, right through the night.
Next week tests will show whether it is helping him. But already having the PEG has meant that Alphie can get more calories, which is great for not only his GSD but also his eating disorder.
His other symptoms include excess sweating due to “heat intolerance”. We haven’t found a way of helping with this just yet, so we carry muslin squares with us. He struggles physically with things like balance, climbing, running and jumping.
Ready for nursery school
Alphie is a very, very clever boy and is so ready for nursery school. That will be happening as soon as possible, now that he has had his PEG fitted.