Louis’ Tribe
“It’s not what we have in life, but who we have in our lives, that matter.”
When Louis was almost four months old we were thrust into the world of rare disease, medical complexities and different needs. A world that we knew very little about. It was terrifying, isolating and daunting. Now we want to change that and tell the world our story
-Amy & Michael (Louis’ parents)
Who is Louis?
Louis is a little boy, living in country Victoria with his parents, Amy & Michael. Not only does he have an infectious smile, laugh and personality, he also has an incredibly rare genetic condition known as Congenital Disorder of Glycosolation. Louis’ condition is known as ALG1-CDG or CDG1K.
Louis was diagnosed around 6 months of age, after the dramatic onset of intractable seizures and a length ICU stay. Louis’ rare disease affects many aspects of his day to day life. Due to the severity of the seizures early in his life, Louis is globally developmentally delayed. He has low-tone, known as hypotonia, so is unable to walk, roll or crawl and is PEG-tube fed majority of his food. There has been is a significant impact on his neurological function as well, thanks to those nasty seizures.
However don’t think that any of that bothers him! Louis is full of life, love and attitude! He continues to amaze us with what he can achieve when he sets his mind to it. Along with that, he continues to bring us more joy than we ever thought possible!
Louis’ Parents
Louis is supported by so many amazing people, but at the forefront are Mum and Dad - Amy and Michael.
Louis is the eldest of Amy & Michael’s children, they have another little boy, Isaiah, who is unaffected by CDG.
Louis’ first year of life was not at all what they had pictured their introduction to parenthood would be, and life since then has been anything but typical! However since that first seizure they have dedicated their time and energy to ensure that Louis’ has a happy, loving and the best quality of life possible. They are constantly looking at new therapies and treatments to help achieve this as well as each day trying to teach Louis’ new skills.
Although none of this is possible without the support of the small village around them!
Telling Our Story
In early 2021, Amy was given the opportunity to write a piece that contributed to the Murmuring of Ten Million - a platform for parents of children with life limiting conditions, or have experienced pregnancy or child loss.
Amy’s piece talks in more detail about our story, as well as the emotions that are associated with a diagnosis of a life limiting condition. The button below redirects to the article.
Amy was also very grateful to be given the chance to talk about their story earlier in the year when she spoke with Harley on the GV Talks Podcast. Amy talks about herself, her and Michael’s life together, along with CDG and all things Louis. This can be found on Spotify or Apple Podcasts and is episode #38
In December 2023, Amy and Michael spoke on the podcast Glycocast. They discuss the journey to where they are now, the challenges that come with rare disease life and life with a rare disease in Australia. This can be found on Spotify of Apple Podcasts and is episode #5.
“After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later the plane lands. The flight attendant comes in and says ‘Welcome to Holland’. ‘Holland?’ you say. ‘What do you mean Holland, I signed up to be in Italy. All my life I dreamed of going to Italy.’ But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay……but if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, very lovely things about Holland ”
-Excerpt from “Welcome to Holland”, by Emily Perl Kingsley.