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 this link and read as much about this research project as I could find online. I discovered that the grant had been awarded to Professor Jude Fitzgibbon at Barts Cancer Institute in London, along with Professor Inderjeet Dokal and Dr Tom Vulliamy.
One of the genetic defects that their research will focus on is GATA2, which is the genetic defect that caused Leah’s myelodysplasia and monosomy 7. In this blog post I write about my initial reaction to being told that Leah had a Gata2 mutation.
I am very excited that this research is taking place. It won’t help Leah, as nothing can bring her back, or make us miss her any less. However ANYTHING that potentially improves the survival chances and lessens the toxic treatment side affects, for people with a similar diagnosis to Leah, is good news to me.
I immediately made contact with one of the professors involved in the research. We exchanged some emails. He invited me to visit him at the genetic laboratory in Bart’s Cancer Institute should I ever be in London. At that stage I had no plans to visit London, but “where there’s a will, there’s a way“.
Reminds me of an incident from my childhood. I was ten years old and living with a family in Muiríoch, in Co Kerry for four months, to improve my spoken Irish.
I was really excited, because Fear An Tí (the man of the house) had told me that there was a parcel for me in the Post Office a few miles away. There was no cars in our village, the only mode of transport was a donkey and cart. He said that if I wanted to have my parcel, I would have to catch the donkey in the field and hitch it to the cart.
I ran out of the house, determined to catch that donkey and retrieve my parcel. I imagined that it would contain some treats from home.
Muiríoch on the Dingle Peninsula, was a long way from my home in Cork City, so I only received one visit from my family during the almost four months that I spent there, on a Gael Linn Scholarship. It might sound like an unusual arrangement, to send a ten year old child off to stay with a family that she’d never met before, who spoke a different language (Gaeilge), but it wasn’t unusual in those days. I returned home with a fluency and a deep love for my native tongue.
Before I reached the field, Bean An Tí (the woman of the house) made him tell me that there was no parcel for me – he had been teasing me to see if I really would try and catch that donkey!
As you can imagine, I was very upset and disappointed.
So yes, once I received the invitation from this professor, I became quietly determined to get there at some stage during their five year study.
Just to remove any ambiguity, he’s certainly no donkey and he definitely hasn’t disappointed me!
The opportunity for the visit presented itself much quicker than I anticipated, as when the girls and I were planning our trip to Bristol, we ending up including a few days in London.
I contacted the professor and we arranged a time and a date. He asked me to email him some questions to focus our discussion when we met. This is when I started to panic.
I did my nurse training in an era when nurses barely spoke to doctors. Certainly they never questioned them about anything. When I was a student nurse, Sr Bosco repeatedly told us “Keep your bowels open and your mouth shut and you will get on well in this hospital.”
It’s an inner dialogue that I had to constantly combat once Leah became seriously unwell early in 2013. I quickly discovered that as her parent, I was her voice, her defender and her advocate.
I also learned that my “gut instinct” as her Mum was sometimes more accurate than their medical training or hospital tests. Some doctors listened to me, some didn’t.
Many battles were fought (graciously, I hope) and many (but, by no means, all) were won – for Leah’s benefit, not mine.
The final battle sadly, was when I asked what my options were for Leah’s end of life care and the answer I was given was that I had no options – because Leah had respiratory failure and was on a ventilator, she would die in ICU.
Despite Sr Bosco’s near successful attempts to silence me, they underestimated the fact that they were talking to the girl who, at ten years old, was determined to run around that field until she caught the donkey and hitched it to the cart.
Thanks to the help of a work colleague and the input of a specialist in paediatric palliative care from the WHSCT – who dropped everything at short notice to make the 140 mile round trip to Belfast City Hospital – Leah died in peace and dignity, surrounded by love, in the N.I. Children’s Hospice.
I write about Leah’s end of life care here.
So a few weeks ago, I prayed and asked God to help me put together a few questions/discussion points for my meeting with some members of their research team.
The Bible says in James 1:5
“If any of you lacks wisdom, you should ask God, who gives generously to all without finding fault, and it will be given to you.”
I will tell you this, I pray for wisdom constantly, I really need it.
I managed to put together twelve questions/discussion pointers and sent them off. The professor seemed happy with them.
As the day approached, I again started to feel a little nervous, as the internal dialogue fuelled by Sr Bosco’s admonition, replayed in my head.
Thankfully, my eldest daughter decided to accompany me. She is doing a biology degree at Queen’s University which includes some modules on genetics.
We had been sent a map of the Charterhouse Square Campus where the Haematology-Oncology Centre is located and advised which tube stations were nearest. However I hadn’t thought to research how to get from the tube station to the Campus. Nor could the SatNav on my phone make any sense of the information I was giving it.
Thankfully Rachel has excellent navigational skills that she did NOT inherit from me. We arrived at the unmanned locked security gates of the campus with just minutes to spare. I spied a young man approaching and asked if he could help us. Turned out, he works with the professor and was able to escort us right to our destination. I uttered a silent “Thank you, Lord.”
We were given a most interesting tour of their genetic laboratory. We had an hour with some members of the research team. They were absolutely lovely. We learned about their research. We also learned more about Gata2 genetic mutations and the very unpredictable way in which they can affect different people. I have increased in my understanding of how Leah’s GATA2 mutation (T354M) affected her personally.
I will continue to hope and pray that their research results in many more people who have Gata2 deficiencies surviving and having minimal treatment side effects.
As for the rest of our time in London?
I worshipped God at Holy Trinity Brompton on Sunday and enjoyed the lively style of their 11.30am service.
Afterwards I nipped into Harrod’s Food Hall for a bite of lunch.
On Monday, we went to London Zoo – I loved the sloth.
Miriam definitely didn’t love the spiders.
Rachel got up close and personal with a ring tailed lemur.
After the Zoo we hung out for a bit in Camden. I found a Smoothie Bar while the girls shopped in Cyberdog – definitely not my scene!
On another occasion we got henna painting on our hands and ate yummy Gujarati food at Sakonis in Wembley. We visited an Asian friend who very kindly dressed Rachel up in a Sari – I think she looks beautiful!
The two girls also visited the Natural History Museum and Madame Tussaud’s. Our Avios Points, accumulated over many years, paid for our tickets into both London Zoo and Madame Tussaud’s.
Today, sadly, is the last day of our holidays, but we get to take all our happy memories home with us.