AN ARBROATH mother is trying to highlight a serious illness which can often be misdiagnosed as cerebral palsy.
Stefanie Watson’s son, Adam (7), was diagnosed at the age of five with Glut1 Transformer Deficiency Syndrome (Glut1-DS), a chromosomal disorder with symptoms very similar to cerebral palsy.
Stefanie explained: “There are currently approximately 200 people worldwide who have been diagnosed with this disorder, but experts believe that there are probably thousands if not millions who have been misdiagnosed with cerebral palsy for example.”
She added that if caught and correctly treated early enough the further onset of symptoms could be prevented.
Briefly, Glut1-DS inhibits the supply of glucose to the brain, depriving it of enough fuel to function and develop.
It is characterised by delays in mental and motor development, spasticity, ataxia or dystonia and infantile seizures beginning between the age of one and four months.
Although Adam achieved all the usual development milestones in the normal time, he did so with great difficulty.
Stefanie explained: “As the years have passed and Adam entered playgroup, nursery and school it became clear that Adam also had difficulty with all aspects of his gross and fine motor skills, coupled with learning difficulties and developmental delay.”
However, the severity of Adam’s symptoms varied drastically from day to day, going from having some difficulty to having almost no control.
Adam underwent a great deal of testing, including two lumbar punctures and MRIs and he was eventually diagnosed as having cerebral palsy.
However, two years ago Adam was diagnosed with Glut1-DS and was put on a strict Ketogenic Diet which uses fat to fuel his body rather than glucose found in most foods.
Stefanie said: “It’s very restrictive on carbs, not even a slice of bread. There are carbs in everything, even things you don’t think have carbs in them. He can’t use normal toothpaste and sun cream as they have too much sugar in them.”
Although it seems to help, the diet can be unappetising at times, Stefanie said: “He has to drink 40 grams of olive oil - that’s about an inch deep in the cup.
“His fat comes from oil so there’s a lower impact on his cholesterol and opens up his carb and protein allowance.”
Stefanie added: “It is quite costly. The oil in itself, Adam drinks 120mls of it a day. We buy celeriac which is really low in carbs to make chips, but we can only get it from Milton of Haugh.
“Then there are specialist foods more for people on the Atkins diet. You can’t just go to the shops and buy pasta, you have to go to specialist sites.
“Adam has to take a vitamin, calcium and mineral supplement every day as his diet is pretty much nutritionally defunct.”
For any parents concerned about their child and their risk of Glut1 Transformer Deficiency Syndrome visit www.glut1ds.org for more information.