28th June 2021 our precious baby boy was born, We had waited so long for him.A little boy to finally make us a family of our own.Ethan was born with bilateral choanal artesia. Within a couple of hours he was transferred up to Temple street for emergency operation to open his airways.
I still hadn’t seen him at this stage.Trev was with Ethan, which gave me some comfort. He was 5 days old before I got to meet my little boy for very first time. All of this was during Covid,with extreme rules,making an already traumatic time even more unbearable.
Ethan underwent 5 surgeries to correct his airways, thankfully the last one was a great success. Our consultants had advised us that this condition is almost always associated with other syndromes, rare for it to be isolated.
Ethan thrived, met every milestone ‘early’. It was very difficult time, couldn’t let him cry ,he would need extra suction to clear his airways, oral aversions,silent reflux . Ethan was an Exceptionally bright, really happy, sociable baby. At two years of age our paediatrician advised that the only way to be certain that this was isolated was to to trio exome testing. In September 2023 we got the most devastating call, his results were back. Nothing related or associated with bilateral choanal atresia BUT a rare GATA2 Deficency. So rare they had no information on it ,but would refer to specialists in Crumlin. In the meantime we met with Genetic Specialist who explained clearly what this meant for Ethan. Only 50 known cases of his exact mutation known in the world. He would without a doubt get an aggressive form of Leukemia, have major problems with his immune system, lungs,kidneys, skin every organ affected, lympodema, deafness. We could not believe what we were hearing. It is the worst sentence any parent can hear. I felt my heart shattered that day & our whole lives changed forever. The only treatment that may help but not cure all of the symptoms of GATA2 was a Stem Cell Transplant. For the next 18 months we lived our lives barely, constantly waiting for him to get sick,hoping every temperature wasnt the start . This never leaves your mind, you try and make the most of every birthday, Christmas, privately praying you will celebrate the next one. We agreed on a treatment plan to monitor Ethan closely, regular bloods,scans,bone marrow aspiration. As soon as we would see any sign of progression we would do treatment. That call came a week before his 4th Birthday. Ethan had the best chance before the leukemia would develop. Stem Cell Transplant carries huge risks and it is the very last option for most children, in our case it was our only hope.
