The story of our daughter Marcelina – breaking our hearts and taking away our hopes… Not long ago I was sure that I am mum of three healthy, wonderful and dream daughters and there was nothing foretold a tragedy. Our third daughter Marcelina was born on 12th February 2021. She was the completion of our family. First three years of her life were full of joy, love and happiness. She was growing very well and being independent two and a half years old she started her adventure in kindergarten. On the 26th March, about month after her third birthday, the world stopped for us and dark clouds covered our life taking away our hopes, plans and dreams. We did her first blood count test which showed significant blood structure disorders. The results were so bad that we quickly ended up in an oncology clinic „Cape Hope” with suspected acute leukemia in a life-threatening condition. She was given platelets and a bone marrow biopsy was performed from her hip bone. Then, to our surprise, it turned out that there were no leukemia blasts in the bone marrow. Subsequent genetic tests did not reveal any changes. In May, Marcelina underwent a trepanobiopsy with a cylinder drilling of the bone from her hip, and peripheral blood was taken. The collected material was sent to laboratories in Freiburg, Warsaw, and Łódź. The results were gradually coming in, but the doctors were groping in the dark as the blood parameters were getting worse. Changes in the nail plate also became more severe. The stem cell transplant procedure has been initiated. As the donor was chosen Marcelina’s oldest sister, 13-year-old Julia, because she is a complete match. Blood and bone cancer and Fanconi anemia were excluded. Freiburg studies showed telomere shortening below the one percentile. After 6 months of research we got a diagnosis – Dyskeratosis Congenital type 3, mutation in the TINF2 gene, a fatal and incurable disease. It devastates the body, damaging the bone marrow, causing pulmonary fibrosis, liver failure, nail deformation with complete loss, additionary spots on the skin caused by poor pigmentation. This diagnosis has taken away our future – there is no cure. The stem cell transplant, which was our hope for a new life, with this diagnosis does not cure – it is only a way to prolong life. It is a huge experience for our family. Despite the fear every day we learn our new reality. We enjoy every day together hoping that she will stay with us as long as possible. We shed a sea of tears but we still hope because hope dies last. We believe that development of medicine, that is so quick lately, will give our daughter a chance for treatment and life. There is a difficult way ahead of us full of tests and visits to specialists. Wish us the strength to get through this, not to give up and not to fall apart into a million pieces.
Marcelina Opolska
Gene: TINF2
