Story
Harry’s Journey
On the 11th of December 2019, our wonderful little boy, Harry came to the world. As parents, we were over the moon to meet our new family member and fell in love straight away with this beautiful blue eyed boy. After nine months of wait, we finally had our little bundle of joy and could not wait to start our journey as a new family. However, the joy was quickly replaced by worry and anxiety as Harry suffered seizures just 36 hours after labour, we hadn’t even left the hospital and this was the start to 14 long days in the neonatal intensive care unit at Gloucester Royal Hospital. The search for an answer for why our little boy had suffered from seizures began.
On the 22nd of January Harry was diagnosed with a rare genetic metabolic disorder called Zellweger Spectrum Disorder (ZSD) or also known as Peroxisomal Biogenisis Disorder (PBD). Zellweger Spectrum Disorder is categorised by the absence of peroxisomes, a cell structure that break down toxic substances and synthesize lipids (fatty acids, oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function as well as the formation of myelin, the substance that coats nerve fibres.
ZSD affects an estimated 1/50,000 live births. Children usually do not live long into adulthood, however the spectrum is wide and life expectancy ranges from days old to patients who live into their 30’s. Most affected children have some degree of facial characteristics and generally show symptoms from birth such as jaundice, low muscle tone, failure to thrive and liver dysfunction. As the disease progress children commonly deal with global disabilities, vision impairment, adrenal insufficiency and seizures. Currently there are no effective treatments for ZSD, only management of symptoms such as cortisol supplementation.
The day Harry got his diagnosis our world got turned upside down. It broke our hearts knowing that life would be very different for our little boy. Like all parents, you have so many hopes and dreams for your children.
Harry is currently doing well considering what he is up against and he is a very sweet, bright eyed happy boy. Harry struggles with muscles weakness and muscle control but tries his hardest every day to learn skills like rolling, controlling his head, pushing himself up to crawl and other developmental milestones. We could not be prouder over our little boy.
Rare genetic disorders are silent killers of so many young children and we would like to raise the awareness of Zellweger Spectrum Disorder by raising money for Zellweger UK. Zellweger UK is a charity who support and connects families with children like Harry. They are a team of volunteers who have children with ZSD, or have lost their children to this cruel disease. Giving their time for free to families offering them a community to share the highs and the lows but also providing grants, equipment and practical advice to families. They also aim to increase the education and awareness around the disorder to support research in the hope for one day finding a cure for these brave and beautiful children.
#workoutforzellweger
