Christina Coffey Ryan
Gene: Unknown

On the 23rd of December 2020 my life changed forever when my mother’s heart stopped beating. At only 58 we were robbed of so many years together, we had so much to look forward to. Spending time with her grandkids, cruises with her husband – her favorite thing to do as she got to dress up and spend quality time with him.

Our loss grew deeper when 2 weeks later on the 6th Jan 2021 my little brother closed his eyes for the last time. Dominic, only 33, taken away too soon. He had so much to offer this world. He was a great uncle, a true gentle soul who loved to play soccer and pool. He loved to travel abroad but travelled Ireland for pool competitions. He was such an inspiration to all who knew him. He wouldn’t be happy about me writing this story as he was such a private person. Nobody knew how sick he was as he became bed bound and he was oxygen dependent. He grew extremely scared of becoming sick as it could be fatal, and he loved life and wanted to see his nieces and nephews grow up. He fought so hard daily as he didn’t want to break mammy and daddies’ hearts, but I think when mammy passed first, he knew he had his very own special angel waiting for him.

The severity of this illness nobody had really seen. They both fought many battles due to this cruel illness – that had developed in the genetics. I’m not sure how it all works, but Dominic knew his condition inside and out, having battled for years to receive one of his many diagnoses; dyskeratosis congenita due to short telomere syndrome.

He would beg me to get tested, so following their deaths I contacted Team Telomere. They put me in contact with doctors in Ireland who ran tests, and my children are all clear. Me on the other hand, I have the gene.

I am so relieved our children are healthy, but I never thought I would be on this journey. It’s early stages yet, so no idea how I will be affected if at all. I am thankful this gene ends at me, and grateful to Team Telomere and support groups for all their help and advice. Over these last few months to me, and for all the support they gave to mam and Dominic over the years. I know it helped them out lots, as being rare is very tough, and that is why awareness is so important.

Life is for living and making memories and I’ve got my two angels on my side walking this journey with me. My mam and brother who will guide me and keep me strong. Also, my amazing husband and my children and my amazing daddy.

Many thanks for taking the time to read our story.

X