Recent event:

 AGSD-UK Annual Conference,
Nottingham,
28-29 October 2017.

 

One family's story

This is an account of one family's experience of GSD Type IX.

I am the mother of a 17 year old boy. Our son was diagnosed with GSD Type IX aged 3. It was a traumatic time as we didn't understand the implications and our minds generally drifted to the worst case scenario. Sometimes we felt we were getting conflicting opinions. As parents we know our children the best, so have to make choices and decisions based on the available information or advice and keep reviewing the situation. We were fortunate in eventually being referred (at my insistence) to the leading UK expert on this glycogen storage disease at Great Ormond Street Hospital, London. Our paediatrician was at first reluctant to refer us but I found out the name of the expert and asked for a second opinion.

We have carried on learning and reviewing in the 14 years since, as has our consultant as the treatments for, and knowledge about, glycogen storage diseases continue to be updated.

As our son grew his needs changed and we adapted his cornstarch, diet, etc accordingly and continued to be seen annually for updates, liver function tests, occasional kidney function tests and bone density x-rays. We have been fortunate in that our son has never had severe problems and only occasional episodes where he may have had low blood sugar. When he goes away, or is doing strenuous activities such as outdoor expeditions, I always ensure he has grain bars or high energy food to eat if he needs it, and always remind him to take his cornstarch before bed.

When he became an older teenager he sometimes refused to take his cornstarch but it became apparent after a while that in fact he didn't need it so much anymore. However, I insisted during exam periods when he was more stressed and tired, as it seemed to help him sleep better. At times when he didn't want to take the cornstarch we asked him to instead have wholegrain cereal or toast before bed, as this would have a slow-release overnight.

Mostly when he was younger the cornstarch was to help him grow by giving him that energy overnight and this helped I'm sure. Now he eats enormous amounts all the time, like any teenager, but he knows to eat if he ever feels shaky or sick. He manages it all himself, as we can no longer insist on anything! There were times when he was angry that he had GSD and had to take cornstarch, but we asked him to be thankful he wasn't a diabetic on insulin injections, i.e. keep it in perspective, and to consider that of all the GSD types to have Type IX is perhaps the least troublesome.

The main thing, after diagnosis and referral was all over, was that we trusted his consultant and felt supported by him and could ask any questions we wanted. I found it useful to write down my questions before an appointment and make sure I was satisfied with the answers before leaving. However, in my experience, this condition seems to be very individual and one Type IX person isn't necessarily like another. Sometimes you have to feel your way and see what works for your son or daughter - as their bodies grow and change and hormones kick in it can be a fluid situation that needs continual reviewing. We came to know what worked and as our confidence grew we were able to relax more, which helped both our son and us as parents.

 

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