The story of Hayley
Our story began in feb 2016 when our baby boy was diagnosed with GA1 , we had never heard of GA1 despite our other 5 children receiving the newborn screening test .
We spent the next few weeks visiting doctors, consultants, genetic specialists to try and understand more about GA1 , most days we left appointments more confused until we understood that The genetic cause (mutation) of GA1 is passed on by the parents, who usually don’t have any symptoms of the condition.
The way this mutation is passed on is known as autosomal recessive inheritance, This means a baby needs to receive 2 copies of the mutated gene to develop the condition – 1 from their mother and 1 from their father.
If the baby only receives 1 mutated gene, they’ll just be a carrier of GA1.
It didn’t take long for us to adapt to medications, diet plans and everything was running smoothly, our boy was developing as he should , met all milestones early and he never complained .
Then our specialist team wanted our order children tested as it’s an inherited metabolic disorder , we were told that there was a small chance of any of the other children having Ga1 as it would of been detected a lot sooner , our then 7 year old daughter had been suffering with “strange” episodes from 18 months old and we never really received any definite diagnosis and then after undergoing the genetic screening requested by our team the results came back that she also had Ga1 .
Ga1 certainly has a massive impact on our lives , our son has been following a restricted diet since birth , as Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can’t process certain amino acids (“building blocks” of protein), causing a harmful build-up of substances in the blood and urine.
Normally, our bodies break down protein foods like meat and fish into amino acids. Any amino acids that aren’t needed are usually broken down and removed from the body.
Babies with GA1 are unable to break down the amino acids lysine, hydroxylysine and tryptophan.
Normally, these amino acids are broken down into a substance called glutaric acid, which is then converted into energy. Babies with GA1 don’t have the enzyme that breaks down glutaric acid, leading to a harmfully high level of this and other substances in the body.
Children with GA1 may have episodes known as a metabolic crisis, this usually occurs because of illness such as a stomach bug , if our children start showing signs of illness we much immediately start emergency treatment and get medical help
immediately in most cases a metabolic Stoke occurs in earlier life but in some cases a metabolic
crisis may be triggered later in childhood by an infection or illness so it’s important that we always start emergency treatment as soon as we notice any signs of illness
Despite having GA1 both live life to the fullest our son is now 6 and loves school and swimming , and our daughter is now 12 and loves boxing .