22 years ago, I had another sister called Chloe who we tragically lost after only a week of life as she suffered from a very rare Fatty Acid Oxidation Disorder called Neonatal Glutaric Aciduria type-II (Neonatal GA2).
In brief, Fatty Acid Oxidation Disorders (FODs) are genetic metabolic deficiencies in which the body is unable to oxidize (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly. The main source of energy for the body is a sugar called glucose. Normally when the glucose runs out, fat is broken down into energy. However, that energy is not readily available to children and adults with an FOD.
Neonatal GA2 is a very rare inherited disorder. It is an autosomal recessive disorder, which means that both parents, who are carriers, carry a defective gene and when both of those defective genes combine, a child is born with the disorder. Each child has a 25% chance of inheriting the disorder. My mum and dad weren't even aware they were carriers as I was born perfectly healthy and the disorder is so rare, they had no reason to suspect they were carriers.
In Neonatal GA2, newborns develop severe symptoms during the first days of life and usually do not survive for more than a few weeks due to severe metabolic acidosis, cardiomyopathy and liver disease.
Neonatal GA2 was incurable 22 years ago, and unfortunately, this is still the case today.
I am running the Edinburgh Marathon on 29th May 2016 to fundraise for a registered charity called FOD Support Group - an all volunteer national and international support group specifically for Fatty Oxidation Disorders that raises funds for the training of new FOD Professionals, for future FOD Research and also provides grief support for families who have lost children to FOD disorders such as Neonatal GA2.
I chose this charity as it is a cause that is close to family's heart and I would also like to raise awareness about FODs such as Neonatal GA2.
I would be extremely grateful for any support so that we can help to find cures or treatment options for such tragic, rare disorders.