At around 14 months of age, doctors conducted some tests on Omer and diagnosed ADA-SCID. This marked the start of our journey with the immunology department at Great Ormond Street Hospital (GOSH). It took us some time to understand the diagnosis, because everything the doctors told us was so unfamiliar.
We were devastated and upset. Why was this happening to our beautiful, bubbly son? Obviously, Omer was too young to understand what was happening to him. He was, and still is, such a happy, strong boy. His strength gives us a lot of comfort and positive vibes.
We are Turkish but Omer was born in the UK. A downside of his illness was that until we understood more about it, we couldn’t visit our family as much as we would have liked. Even now, owing to Omer’s medication and treatment, we can leave the country for only two weeks. Sometimes we have been advised not to go at all, just to be on the safe side.
Unfortunately, three attempts at gene therapy treatment at GOSH were unsuccessful. Omer is still on medication and PEG-ADA treatment. He is as healthy as can be, but we have to be cautious when we leave the house, be aware of contagious illnesses (such as chicken pox) and ensure he has good personal hygiene.
My advice to any other parents who have a child diagnosed with a PID is to ask as many questions as you can, no matter how silly they might seem. Be positive; live your life to the full as much as possible and keep well.
Omer’s diagnosis was 11 years ago. We are in out of hospitals, both local and GOSH and sometimes you are given so much information at hospital consultations that it can be difficult to take it all in. PID UK reminds me of all the things I need to know and provides more detailed information. If I forget to ask the doctors or nurses a question, then I know PID UK will be able to help me.
Everyone should mark Rare Disease Day and support advances in research and patient information.
Posted February 2021