By Carla McManus | Published on July 10, 2020 | 6 Minute Read

We got the all clear to go home. We left the hospital with our little girl to start our life as a family of 3. She slept and fed well like any other newborn. 2 weeks later she failed the follow up hearing test, so at 9 weeks old she had a long 3 hour test to determine how her hearing was. After a long 3 hours in an extremely warm room, we were told she had mild but permanent hearing loss in both ears, but that they had no overall concerns for her in the future. We dealt with that, it was no real concern right?

At 4 months we brought her to see a local paediatrician and she thought Lucy had improved and was doing well. Her only concern was that she had a bit of a flat head so referred her to a physio to help and we got a follow up appointment to see the paediatrician for when Lucy was 10 months.

The physio was great, we attended once a week, but as the weeks passed, she noticed as she had low muscle tone(floppy) it was harder for Lucy to reach her milestones. She never really rolled and did not sit up independently until she was 9 months old. I was super proud of my little girl, she was getting there. It might have taken her longer but she was sitting up. Although she was doing well, according to the ages and stages, she was behind in her overall development, so was referred to the early intervention team. This is a group of multidisciplinary teams who work closely together to bring children on to the best of their ability.

Lucy was now 10 months old and we went back to see her paediatrician. I raised my concerns on milestones and how I felt she did not focus on things well so I thought her sight might be an issue. We were sent straight upstairs for genetic testing.

On the 11th of September 2019, at 11 months old, Lucy was diagnosed with a rare genetic disorder called Zellweger Spectrum Syndrome/ Peroxisomal Biogenesis Disorder and there was no cure. How could we be told this? Why Lucy? How could this happen to us? We were heartbroken. I will never forget leaving that small room with tears streaming down my face uncertain for my daughters future. The days that followed after that were dark and I spent most of them crying and hugging my little Lucy.

The more we found out about this disorder the more it scared and upset me. It is life- limiting and alot of babies do not live past 1 year, some an average age of 10 and some if lucky into early teens/ adulthood. They all live to tell their own story and not one child is the same. It affects the liver, kidneys and the heart and brain development. As it is a spectrum some may have it more severe than others and may have problems feeding and may develop seizures.

My partner and I are both carriers of the gene and if we are to have any more children naturally they have a 1:4 chance of having zellweger like Lucy, a 1:4 chance of not being affected and a 2:4 chance of being a carrier but it not affecting them. So this on top of what we have to deal with is added stress.

Currently Lucy is 20months old and is still progressing. She bum shuffles to get around and has the funniest personality and interacts with us very well. We have endless belly laughs and we live life to the fullest everyday. We chose to get up everyday and be thankful that she is still here with us and we want to give her the most amazing and best life she deserves for as long as she is with us.

The most difficult part of raising a child with special needs and especially a child with a life-limiting illness, is that the life you once thought they would have, will never be. Some days are tougher than others and I can overthink things and cry myself to sleep worrying about her future as I can not predict it.. Will she ever walk/talk? What school will she go to? Will she be ok? I dread hospital visits, the overnight stays while they do endless blood tests, blood sugars and meeting different professionals trying to help. These days are long and tiring and you really appreciate the small things in life like your cosy bed at home or your comfy couch. But we get through these and we are positive. Without positivity and hope there is nothing. The most rewarding part is seeing Lucy smile everyday and her infectious laugh at my funny faces or shaking my hair on her face. I am Lucy’s carer and I am fortunate to spend every day with my daughter and seeing her progress in front of my eyes makes me the proudest and happiest mother and at times I find myself in a bubble where I forget she has this disorder.

As genetic testing will be a future thing, you will never know you’re a carrier of so many genes leading to genetic disorders. In today’s world you do not find out until you have a child and they show symptoms. Hopefully this will change in the near future so that couples know what they might have to face before having children.

I set up my Instagram page Lucysjourneywithmammy to show Lucy’s journey and to raise awareness for zellweger syndrome. Nobody knows what is around the corner for anyone. We never thought we would be in this situation. It is not something you expect when you meet your soulmate and plan your life and not realise that it was a 1 in 50,000 chance that 2 carriers of the same gene met, fell in love and your future plans now change and your fairytale ending is not the one you expected.

About the Author: Carla McManus