To celebrate our 100th issue of InFocus magazine, we spoke to Kirsteen, who has the genetic type of retinoblastoma, about her experiences of retinoblastoma and CHECT through the years:
We have a long history of retinoblastoma (Rb) with many members of our family, across six generations, being affected. This is on my dad’s side. My great-grandpa and my grandpa both had bilateral enucleations at around seven years of age. My great uncle and his daughter had unilateral enucleations, as did my uncle. My dad carries the gene but never developed Rb. I had bilateral tumours and both of my children had unilateral disease. My grandson is undergoing regular check-ups as he is also a carrier.
I was born in Aberdeen in 1973 and, due to the strong family history of Rb, I had regular examinations under anaesthetic (EUAs) from birth. Tumours were diagnosed in both my eyes when I was about a year old and my parents were told that I would have both eyes removed the following day. When they called my grandparents to inform them, my grandpa contacted London where his son had been treated. My care was transferred to St Bartholomew’s in London, where I had laser treatment very successfully to both eyes. I avoided enucleation and my eyesight is good with corrective glasses; I truly have my grandpa and the excellent team in London to thank for that.
Beth and Ross
My husband Stephen and I have two children, Ross and Beth. They both carry the gene and therefore had EUAs regularly from birth. We lived in Aberdeen when Ross was born, and he had his examinations there. Ross was diagnosed with a tumour in one eye at 15 months of age and his care was then transferred to London. This was successfully treated with a radioactive plaque. Beth was diagnosed with a tumour in one eye at just five weeks old and had six cycles of chemotherapy. Unfortunately, Beth’s tumour relapsed when she was 15 months old and she had chemotherapy directly into the eye. Ross and Beth had tumours in just one eye but typically the heritable form of Rb affects both, I believe. Ross has a four-year-old son Jamie who also has the Rb gene. Jamie has had regular check-ups in London and amazingly remains clear of Rb so far. These checks used to be EUAs but now he is seen awake and he is doing very well!
As we have the heritable form of Rb, we know there is a high chance that we can pass the gene on. Modern advances mean that a sample of blood from the umbilical cord at birth can be tested and if the gene is present, regular check-ups would be needed to detect any tumours at an early stage. We have therefore never had any symptoms as the tumours have been diagnosed so early, before symptoms arise. For this we are very grateful as early detection and treatment is vital for the best outcomes. We have however since then seen some photos with the “glow” present, especially in photos of our daughter.
Jamie in a hospital gown
We are all keeping very well. I’m 52 and work as a midwife sonographer. Ross is 27 and a police officer. Beth is 24 and just graduated this summer as a doctor and has recently started work. Jamie is four and has just started school. He will continue to have regular check-ups, which are now being done closer to home, in Aberdeen.
My parents don’t remember much support when I was having treatment, but say there was a group called Fish: Family Information and Support. We received support from The Retinoblastoma Society which was the precursor to CHECT. This support was invaluable.
Kirsteen and Stephen with their grandson
I will never forget the moments my kids were diagnosed – these things stay with you. Following Ross’s diagnosis in Aberdeen, we travelled to London for ongoing care. The team at The Wednesday Clinic at St Bartholomew’s was amazing. The ophthalmologist, Mr. Hungerford and the oncologist, Dr. Kingston, were so knowledgeable, professional and passionate about Rb, we have so much to thank them for. The support we had from The Rb Society (CHECT) was very much needed. It was a scary time of uncertainty, worry about the immediate treatment, and fear for what lay ahead. CHECT really took us under its wings and looked after us. There was always someone there to talk to, pass the time with, share fears with. The kids remember that at the end of each appointment they got to choose a small toy from a basket that some kind person had knitted for them, such a lovely touch. When Beth was diagnosed for the second time, we had to decide whether to try the new treatment of chemotherapy into her eye, or radiotherapy. CHECT kindly put us in touch with the mum of a wee boy who had had the newer treatment just a few months prior. We chatted to her on the phone at length, it was indeed very useful to have had that contact. I have accompanied my grandson and his mummy twice for his EUAs in London. Again, it is wonderful to see CHECT actively supporting the families during this stressful time.
Jamie and his mum Ilaria handing over a cheque to CHECT following a fundraising event at Jamie’s nursery
As a thank-you to CHECT, over the years our family has raised money through various means including fundraising events and running races including London and Berlin Marathons.
I find the CHECT website and Facebook groups very supportive. I like to keep up to date with all things related to Rb, as with our strong family history, I am keen to be able to support my family appropriately.
To learn more about genetic retinoblastoma, visit our website: https://chect.org.uk/genetics/