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 have went on to have a diagnosis of early stage pulmonary fibrosis and have been referred over to America to the NIH clinical centre by my doctors here in Ireland. I went through so many tests and procedures while there and am currently on a clinical trial taking a drug called Danazol and the aim is to see if it will help slow down the progression of the telomeres shortening.
I started my trial in November 2022 and am due back to America for screening and dosage change in 6 months. My life has changed so much more than I ever could have imagined my diagnosis is having a major impact on my mental health and affecting my family as we all know how quickly things can change. For now I try every day to focus on the positive and thankfully I am currently well and not in need of oxygen or any medical intervention so am truly blessed and extremely grateful to have this opportunity of a clinical trial. Thanks so much to Team Telomere for the support and information as always I would be totally lost with out you all 💕 I will continue to build on my photo albums by making lots of memories. Stay strong 💕