Mitochondrial Disease
Timothy was born healthy, at full term in August 2004. His mum Alison noticed that he had one floppy arm – which doctors thought was just positional from the birth. He met all his milestones, although he walked a little later than his older brother Christopher. He also fell over quite a bit and his worried parents Alison and husband Mark, had taken him to see a chiropractor.
“We were already worrying a lot about Timothy but when he started school, aged four, the teacher noticed a weakness in his hands when holding a pencil. She described it as if his hands would go from under him and he had no strength in his hands. I took him straight to the GP that day.” Mum, Alison aged 37.
At the age of four, after a referral from the GP, Timothy was tested for muscular dystrophy, which came back clear. He was then monitored and gradually began to show more symptoms.
Alison, also mum to Amelia, two and Teddy, three months, adds: “He started to lose the skills he had already learnt. He struggled to chew and had difficulty swallowing. He began to choke – even on water. He was tripping over his own feet and falling a lot. I noticed one foot was turned in. After school he was so fatigued he would just flop.
“I remember taking him for a hospital doctor’s appointment when he was aged four to five and he was so unwell he was just lying across my lap. The doctor tried to tell me that he was just a really good boy. He was lying in my arms like a baby. I said ‘this isn’t being good, this is poorly!”
The Diagnosis
A diagnosis came from muscle and skin biopsies analysed at Great Ormond Street Hospital, London. Results showed a lipid storage myopathy in his muscle and 3-Methylglutaconate acid repeatedly present in his urine. Alison and Mark, 47, a school site manager, were informed at GOSH that these findings indicated Mitochondrial Disease, a progressive, serious and rare genetic disorder. Timothy was eight-years-old.
Mitochondrial Disease
Mitochondrial Disease is a complex genetic disorder which affects every person differently. Mitochondria are present in every cell in the body and are responsible for producing energy that cells need to function. In Mitochondrial Disease, the mitochondria in the cells are not producing enough energy, either they are not very efficient or they do not work at all. If cells do not work properly then body organs and tissues fail to work properly as a result. The commonest parts of the body affected are those with the highest energy demands; the brain, muscle, liver, heart and kidney. When these systems are affected, Mitochondrial Disease is usually progressive.