My non-identical twin sons Nigel and Trevor both have GSD9a (glycogen phosphorylase b kinase deficiency). They are now 39 years of age.
Nigel and Trevor were born in July 1980, somewhat premature, weighing 4lb 2oz and 4lb 7oz. They spent some time in hospital due to their low weight. They were breastfed, and when weaning began they showed signs of failing to thrive. They developed very large abdomens (enlarged livers), short height, had skinny limbs, and poor weight gain. After some time of investigation, Nigel and Trevor were diagnosed with GSD9a through liver biopsy. Our third child, Philip, was born in 1981 and does not have the condition.
“Put them in a home and forget them!”
When the diagnosis was eventually made all those years ago, we were advised to put them in a home, forget about them, and go away and start our family again. We were told they would be no more than three feet tall, have no energy, and wouldn’t even manage to climb stairs…. Needless to say, we ignored that recommendation and it probably made us more bloody-minded in our attitude to their lives. Now as adults they both like to run and recently Trevor ran the “Woldsman 50”, a 51 mile cross-country, in under 10 hours. Not bad eh!
Participation in research
We then fortunately found our family being cared for by Ita Saul (dietician), Prof James Leonard and the inimitable Philip Lee at Great Ormond Street Hospital, London. At age 14 Nigel and Trevor participated in research published in the paper: ‘Mutations in the phosphorylase kinase gene PHKA2 are responsible for the X-linked liver glycogen storage disease’ Jan Hendrickx, Philip Lee et al.
In 1995 the use of growth hormone was raised, but after lots of consideration we all agreed not to follow that route. There was some concern about delays to their pubertal development, they were prescribed an anabolic steroid. Nigel and Trevor’s “bone age” was 2 years behind their peers, giving them more growing time, which was good news. Additionally, they have always loved their sleep, from babies onwards, early to bed and a good night’s sleep. That must have helped their growth!
Their GPs are very supportive and the boys have liver scans, bone X-rays and medical checks every 2 years. They also seem to get additional attention when they have had routine treatments or surgery…. though mainly the conversation starts with “Oh that’s very interesting, please tell me more.” from the medical staff!!
Bumpy start but very active lives
After a bumpy start, the boys have had a very healthy, energetic and active life style. They have been through Scouts from Beavers to Ventures, been in the local swimming club, played football, athletics and cycling. Summer holidays and weekends were mostly spent camping and hiking. In adulthood, they continue running, hiking and cycling. All three have completed the “Three Peaks Challenge” in 48 hours, and cycled the “Coast to Coast”, and of course they enjoy their running.
Karen Walker, mother of Nigel, Trevor and Philip