Gaby is our fourth child. There were subtle signs during pregnancy, and again after birth that indicated that things were not going “according to the norm”, but we were not prepared for the devastating news that was to come. Gaby was diagnosed with Pyruvate Dehydrogenase Deficiency E1 Alpa before her first birthday.
Indicators such as raised blood and urine lactate levels, microcephaly, cerebral atrophy and global delays were key indicators that led her team of specialists to do a series of skin muscle and tissue biopsies, which led to a clear diagnosis and subsequent devastating prognosis.
It has been a long and difficult journey with Gaby, but we have ensured she has enjoyed life along side her siblings to the best of our ability. She commenced a ketogenic diet at age three, and has remained stable both in regard to her epilepsy and metabolic status ever since. Gaby has severe developmental and physical delays. She relies on her wheelchair for mobility, and does not have a reliable form of communication. Yet Gaby can sing! She delights us all with her extensive repertoire of songs and her wonderful pitch. She brings so much happiness and laughter to our lives.
We have travelled abroad with Gaby a few times; most recently we took her to Florida in the USA where we were able to meet several other families who have children diagnosed with PDH.
Gaby has recently turned 18; a milestone we had never thought was possible when she was first diagnosed with PDH.
When Gaby was a baby, there was limited information and support available world wide, let alone within Australia. We welcomed the advent of the Mito Foundation with open arms and support their endeavours whole heartedly.
We hope that future research will continue to help contribute to improving Gaby’s quality of life, and give hope for a better life for children born with PDH and other devastating mitochondrial disorders in the future.
17 July 2013