We are a group of Parents setting up a charity to help support families dealing with Peroxisome Disorder ( on the Zellweger spectrum Disorder) and raise funds to help towards desperately needed research for this rare condition. Peroxisomal Disorder is a rare genetic life limiting metabolic condition, estimated to affect around 1 in 50,000 births. Children usually don’t live long into adulthood, however the spectrum is wide and life expectancy ranges from days old all the way to their 30s. Affected children generally show, from birth, symptoms such as jaundice, hypotonia, failure to thrive and liver dysfunction. As the disease progresses children commonly deal with global disabilities, vision impairment, sensorineural hearing loss, adrenal insufficiency and seizures. Children may also suffer other common symptoms such as renal stones, low bone density and blood clotting issues that can lead to haemorrhage and intra-cranial bleeding. Peroxisomal Disorder is categorised by the absence of peroxisomes. These are organelles found in every living cell, and contain over 50 different enzymes involved in several important metabolic functions including the breakdown of long chain fatty acids. This leads to an accumulation of very long chain fatty acids in children with PBD. The peroxisome has been also linked to other conditions, including Alzheimers Disease, so our hope is that by raising funds for desperately needed research into the peroxisome could help not only our own children but people dealing with other conditions related to the peroxisome.
