Louis’ Story
Louis was born on 4th April 2018, after a healthy pregnancy. Louis’ parents Amy and Michael had no idea that anything was wrong until one day when Louis was almost four months old, he stopped breathing. What followed was a journey to special needs parenting and living with a life limiting condition.
Michael and I were so ready to be parents and so when Louis Atticus James joined our little tribe, he was all we had hoped for. So chubby, so full of both of our looks and we adored him more than we ever thought possible.
We lived in this idealistic world, adjusting to our new life with Louis and his little traits that both challenged us and left us ‘gooing’ at him for more. In hindsight, there were signs that something else might be challenging Louis, but we were first time parents who couldn’t see anything other than our sweet boy.
One night, when Louis was about 14 weeks old, Michael arrived home in time to bath Louis. We started the nightly facetime with the grandparents and I started undressing Louis. Louis never liked being undressed for the bath. We lived in a pretty cold part of the country at winter so I don’t really blame him!
However, this time all of a sudden, his cry stopped. Within seconds we realised he was not breathing, an episode of apnoea that lasted 20-30 seconds.
By the time the ambulance arrived he seemed back to himself. We went to the hospital anyway and I remember the ambulance officer telling me kids did breath holding spells all the time and not worry. I had no idea what was to come.
After one night in hospital, it became clear that Louis was having “seizure-like” episodes whenever he stopped breathing. Within the next 36 hours they had significantly developed and we were being flown to the nearest Children’s Hospital Intensive Care Unit. Little did we know, that hospital and PICU would be our home for the next 10 weeks.
That first week was full of “We think it’s because of this….once we treat that, the seizures will stop.”
We were still expecting a perfectly reasonable and manageable explanation for this change in his condition. Those 10 weeks were easily the most challenging, hardest, and emotionally taxing weeks we have ever been through.
‘Seeing your child, so small and helpless laying in a hospital bed, hooked up to machines that are currently keeping him alive is hard to put into words.’
It wasn’t until around week 7 when we received a diagnosis, did we see a sliver of hope. That we may actually walk out of there with Louis in our arms.
A Diagnosis
Throughout our time in the PICU, a number of teams became involved in trying to establish a cause to Louis intractable seizures he was experiencing. The most prevalent, outside neurology was the Genetics Team.
Early on, they all indicated that genetics could be the main explanation for his current condition. When the diagnosis came through, we were devastated.
Congenital Disorder of Glycosylation Type 1K or ALG1-CDG is an incredibly rare genetic condition that both Michael and I were unknown carriers of. The statistics were hard to hear – 1 of 40 known cases in the world at the time. We were told the prognosis and life-limiting nature of the condition.
It explained to us that seizures would be a permanent part of his life. Worse still, not one of the health professionals in that room expected Louis to live more than the 4 months to Christmas. Let alone past 12 months of age.
Once we received the diagnosis, the hospital were comfortable to discharge us to go home. So, with that, the process began for us to go home, learning a whole new world of skills and a new normal we never imagined!
‘We learnt that palliative care in children is about support and guidance and ensuring high quality of life’
Our New Normal
After almost 12 weeks in hospital, we took our baby home – again. This was daunting and adjusting to our new life brought with it a whole new range of emotions. Louis was now on seven medications and a special formula diet, all with the aim to keep his seizures to a minimum. We were trained in how to support him through his apnoeic seizures and how to feed him through his new nasogastric tube.
Prior to Louis’ seizures he appeared to be developing typically. He was smiling, laughing, starting to roll, interacting and doing all the things expected at his age. By the time we left the hospital, he had lost all those skills and regressed neurologically in a way neither of us realised until later.
Louis now had very little tone in his muscles. Known as Hypotonia, he could barely move, wasn’t wriggling or rolling and had no neck strength. This was due to a combination of side-effects from the medication, the neurological impact of the seizures and CDG, but it added a significant number of challenges to Louis’ life.
‘Everything we did at home, every play time and even rest became purposeful or with a hidden agenda – how will this help improve his development?’
Early Intervention is paramount and so he was linked in with NDIS and started physiotherapy, occupational therapy and speech therapy. Everything we did at home, every play time and even rest became purposeful or with a hidden agenda – how will this help improve his development? Will it hinder, if so change it!
Alongside all of that was the commencement of palliative care, given the poor prognosis that was placed in front of us. This was a real challenge to accept.
We were still fighting; we were giving Louis every chance we could. However, we learnt that palliative care in children is about support and guidance and ensuring high quality of life. Something that remains high in our priorities with Louis.
While we were adjusting to this new-normal, we were struggling emotionally. We were grieving in a way I never imagined possible. The shock of the diagnosis had really sunk in.
Processing
As the dust settled on our new life, we were left to pick up the pieces of our life we once had and process what had just happened. The months following the diagnosis we were in survival mode. Not looking too far ahead in case the worst happened, trying to mentally prepare for that.
Our whole future with this sweet boy had been ripped away and replaced with this version that had no plan, no future, just the now. Full of unknowns.
Grieving
This was grief I never knew existed. I was grieving my little boy – the life he was meant to have, the things he would do. Our whole future with this sweet boy had been ripped away and replaced with this version that had no plan, no future, just the now. Full of unknowns.
Situations, places, people all became triggering. All reminders of what we won’t have. Parents with their little boys in the park, hearing kids call to their mummy or daddy, conversations about daycare, kinder and school, trouble with eating and tantrums all became too much to bear.
While we were surrounded by so much support and love from both our family and dear friends, this was something Michael and I felt only we could understand.
And we felt alone in that.
The next twelve months were filled with some of the darkest days I have ever experienced. The grief was overwhelming to me. I struggled immensely with post-natal depression and anxiety. Something very few around me knew.
I was very reliant on Michael, as he was on me, and together we held each up just enough to take deep breaths, give Louis a happy and fulfilling life, while fighting so hard for him to make gains and improvements. Like I said, we survived those first 12 months.
Coming through the darkness
Those who are in the haze of a new diagnosis, let yourself feel all the emotions that come with this new information and change to your world.
Allow yourself time to process, you will get through this. It might not seem like it yet, and it may take time, but there will be parts of the old you that will remain alongside a strong, resilient parent after the shock.
It takes a different amount of time for everyone but we got there. That is not to say we don’t and you won’t still feel all those emotions and have hard and dark days. But we have learnt how to manage them.
I spent a great deal of time and energy focusing on myself and my healing. I tried a range of different therapies and techniques and found ways to process my emotions.
I am a big believer in post-traumatic growth, and whilst I would never wish a traumatic experience on anyone, it leaves you with a new sense of perspective that seems to only be seen from those in similar shoes.
I have grown 1000% from the person I was prior to having Louis. In ways I love, and ways I never expected. I am not the same person anymore and I’m okay with that.
Tips to get through the diagnosis
· See a psychologist – this was game changing for me and helped me learn how to focus my energies and process my emotions on a day-to-day basis.
· Find your outlet – I started running! For those who know me, I have never been into running. But it gave me an outlet and a goal which I thrived on.
· Disconnect on social media from the accounts that are triggering – this was one of the first things I did.
· Connect on social media with people in similar situations – I remember in the early stages searching Instagram and Facebook for accounts that could give me a sign of life ahead, something I can relate too. And I found it! In personal accounts and in support groups for parents of children with CDG.
· Read “Special” by Melanie Dimmit. Everything in this book encapsulated how I felt and really helped process everything along with giving many tips for the whole process.
· Read the poem “Welcome to Holland” – this is perfect and came to me at the most perfect time.
· Don’t close off from those around you – while it’s easy to want to keep your struggles private, having a select few that know what you’re going through is the support you need right now.
Even when you a find yourself in a place where you feel like yourself again, the hard days will still surface every now and then. When they do, tapping back into techniques that you have found that work for you will be key to making sure those days do not drag you back under.
It’s easy to let it overcome you and hide away. Some days, feeling the darkness and sitting with it helps me process it all. And other days, I find my outlet, tap into that, turn off social media and implement techniques that I know help calm my mind and soothe me.
Life almost 3 years on
In September 2018 when we received the diagnosis, there were many statements made by the teams that sat us down and delivered the news. There were a lot of unknowns regarding Louis’ life ahead. What was clearer, was that this condition statistically was life-limiting. A term I had not heard of before, but one that sat so heavy in the room that day. Almost three years on, it is still carrying with it a dark cloud of unknowns and places an asterisk on our life plans.
We eventually learnt to look at it less and allow life to play out the way it does. There are no limitations if Louis doesn’t want there to be and we will support him to achieve whatever it is he wants to do.
Three years ago, they told us we would never see our boy smiling, laughing or showing emotion again. Yet, here we are with an incredibly happy boy, who may not speak with words but says so much with his face.
His laugh lights me up and honestly, in those moments, that is what gives me hope.
Seeing a little boy, full of joy, not concerned with what restrictions society places on him. Over the last 3 years we have found a place where the labels and terms that come with the diagnosis, carry little weight on a day-to-day basis. Limitations or not, we are determined to give Louis, and us, a life full of joy, love, and hope.
Amy is Louis mother, she lives in Country Victoria and is a nurse. She raises awareness of CDG & rare diseases. You can follow Louis’ story and connect with Amy via Instagram on her account @amylauren_d