CDG Strong - Everesting Attempt
My son’s name is Louis, and in 2018 he was diagnosed with Congenital Disorder of Glycosylation.
Congenital Disorder of Glycosylation - or CDG - is a rare recessive genetic condition. There are currently over 100 subtypes of CDG and it affects around 1 in 100,000 babies born. Those with CDG cannot properly add sugar building blocks to proteins. Every part of the body requires glycosylation to work normally, which explains the many different health problems that affect people with CDG.
Our story was atypical for those parents whose child has been diagnosed with CDG. Generally, those with CDG have hypotonia, failure to thrive and developmental delays. Louis was strong, definitely enjoying breastfeeding, and meeting development milestones. At 3 and a half months of age Louis began experiencing seizures. We went from bathing Louis at our home in Canberra to 48 hours later being airlifted to Sydney Children’s Hospital in Randwick.
Louis spent 10 weeks in hospital, and finally was diagnosed with CDG. At the time, Louis was one of 40 known recorded cases with his subtype, and the limited statistics on the other 39 weren’t promising, particularly at his age.
Although we were incredibly well supported medically in Canberra, and from Sydney, we both felt we needed to be closer to our family and friends, both for us and for Louis to create memories with those who mean so much to us. We moved back to our hometown of Shepparton, Victoria in late December 2018.
Our little man has been proving everyone wrong since the diagnosis. We don’t really know what the future will hold or what Louis will be able to achieve, particularly given his age and limited information on his subtype.
We’ve been really lucky to have support from Louis’ friends, family as well as people we don’t even know along the way. We moved back to Shepparton for to be closer to loved ones, but couldn’t have imagined how amazing everyone has been.
In 2019 a group of us headed to the Gold Coast to take part in the Gold Coast Marathon. We used the opportunity as a fundraiser and we’re really lucky to make a final donation to CDG Care of a tick over $14,000.
Last year during the COVID lockdown, we conducted a fun run and wine drive on 16 May - World CDG Awareness Day - raising another $6,000 for CDG Care.
2021 will see us take on our largest challenge yet. Everesting, created by the Hells 500, is an attempt to climb 8,848m in elevation on one hill, in one activity. Whilst there’s no time limit, there’s also no sleep permitted.
In November, my husband, Michael, and friend, Josh, will head to Mount Porepunkah near Bright, Victoria, In Search Of Up. With an 800-900m elevation gain over 7 kilometres, they will make over 10 passes uphill. Supported by an amazing crew who will return them to the bottom via car, complete a pass with them, or encourage them as they go, they believe it’ll take around 22 hours.
We are aiming to raise at least $8,848 - the same number of metres they need to climb. Any donation, great and small, is so deeply appreciated. All funds will be passed on to CDG Care, who provide information and support to families affected by CDG, as well as advocating for scientific research to advance the diagnosis and treatment of CDG.
