The diagram below shows all the known possible clinical features of GATA2 deficiency by organ system. Primary disease features are indicated in bold. This page is for anyone who wants to understand more about the effects of GATA2 deficiencies. Click here to navigate to a Facebook online confidential support group for parents/carers and patients who are…Continue reading
It was the last Thursday in June 2013 and my eldest daughter had just left for America. By now I was well used to getting calls from withheld numbers so I answered the phone as soon as it rang. It was Dr C from Bristol Children’s Hospital and I instantly knew by the tone of his…Continue reading
In 2012 I found myself on three separate occasions listening to a speaker called Catherine Campbell who described how God had been her source of help and strength throughout the illness and death of two of her three children. I had been a Christian for over thirty years and I earnestly desired God’s will for…Continue reading
Two weeks ago I added ‘studying’ and ‘work placement’ to my already rather full schedule. Since then I have really struggled emotionally. My emotions are screaming at me to give up, that this was a crazy idea. My head is simultaneously reminding me that this is a door that God has opened for me and…Continue reading
September is Childhood Cancer Awareness month. There was a time when I did not know this. In September 2013, Leah and I were in the third month of our stay in Bristol, where she had received a bone marrow transplant for myelodysplasia and monosomy 7, a rare haematological malignancy. In Leah’s case this was caused…Continue reading
A few months ago, a post popped up on my Facebook page regarding a new grant that was being awarded by the Leukaemia and Lymphoma Research blood cancer charity (now known as Bloodwise), to understand and improve clinical management of hereditary blood disorders – namely some types of acute myeloid leukaemia and myelodysplasia. I clicked on…Continue reading
This is what Leah posted on Facebook this day last year – a photo of Simon with the T-shirt that she bought him for Christmas. It states MY BONE MARROW SAVED MY SISTER’S LIFE. Simon’s bone marrow did save Leah’s life. Leah died as a result of rare side effects of her treatment. On…Continue reading
On Sunday 27th October Leah and I finally escaped from Bristol and returned to Ireland. We had spent 14 weeks in Bristol, much longer than the 6-8 weeks that we had originally anticipated. Horace flew over on the Friday night in order to accompany us on the flight home, as Leah was weak and unwell….Continue reading
It was on the last Thursday of June 2013 that Dr C phoned from Bristol to tell us the results of Leah’s gene sequencing. They had just discovered that her myelodysplasia and monosomy 7 had been caused by a GATA2 genetic mutation. This was not good news for several reasons. I have discussed this in…Continue reading
Thank you to everyone who prayed for Horace & I and sent us encouraging messages for our first return visit on Tuesday past to Belfast City Hospital. We arrived just after 8am & left again around 1.30pm. We were well supported by our TYA (teenage & young adult) cancer nurse specialist & by Horace’s sister…Continue reading
My Journey: 