Blood Brothers

 

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 the 1st July 2013 Leah had her second bone marrow biopsy. The initial results from Belfast City Hospital were very reassuring as they had shown no advance in Leah’s myelodysplasia.

The samples were then sent to Bristol for more detailed analysis and I asked no further questions. A lot of  the more advanced haematological investigations can only be done in England or Dublin, not in N. Ireland.

One sunny day in September 2013, as I was calmly walking down the six flights of stairs in Bristol Children’s Hospital to go do some shopping, I bumped into our lovely consultant Dr C..

In the course of our conversation, he informed me that the bone marrow biopsy samples they had received in July, had shown some very worrying changes. In his words “there was abnormal cells revving up, ready to take off”. I was gobsmacked by this information.

In that moment I understood why, in a matter of four days in mid July, Leah had gone from being fifth on the waiting list for a bed in the transplant unit, to being first.

I was very glad that I hadn’t known about these results before now – there’s only so much bad news any one person can bear.

Leah’s transplant cured her myelodysplasia and monosomy 7. However she still had to live with the potential consequences of the GATA2 genetic defect that had caused her myelodysplasia and monosomy 7 in the first place. Leah understood this.

Leah was the first person in the UK to be diagnosed with her particular variant of a GATA2 genetic defect.

GATA2 genetic defects had only been discovered in September 2011 so they couldn’t tell us exactly how Leah would be affected long term.

Myelodysplasia has a high risk of relapse, so to prepare her body for transplant, Leah had a very toxic cocktail of chemotherapy that combined busulfan, mephalan and cyclophosphamide.

The decision to use this exact combination of chemotherapy drugs was not one that Leah’s consultant in Bristol made lightly. Dr C. spent weeks mulling this over and emailing colleagues around the world for a consensus of opinion regarding what would optimise Leah’s chances of survival long term.

Simon’s bone marrow, combined with the medical expertise in Bristol, provided Leah with the best possible opportunity for surviving her diagnosis. Without Simon’s bone marrow, we could have lost her much sooner.

Leah also received excellent medical care in Belfast City Hospital. However, sadly for our family, Leah was only on loan to us.

As Leah says in her Facebook post, she and Simon “never got on“. This is true – the sibling rivalry between them was intense.

Leah was 15 months older than Simon. As a “middle child” Leah often felt that she didn’t get enough attention.

Simon attended Speech Therapy from the ages of 2 – 8 years and I spent a lot of time working on his Speech Therapy homework.

As a little girl, Leah used to be quite jealous of the amount of undivided attention that I had to give Simon. This was probably a significant factor in the intense sibling rivalry that developed between them.

In April ’13 when Leah’s three siblings were being tested for compatibility of their bone marrow, it seemed unthinkable that Simon could be “the one“.

I even asked Leah jokingly on the day that they were getting tested “If Simon is found to be the only one compatible, would you really accept his bone marrow?” I’m not sure what her reply was.

A week later we got the phone-call to say it was Simon. Leah broke the news to him with the words “You and me are going to be blood brothers.” She smiled at him and he smiled back.

From that day forward, their relationship improved. To see the lovely card that Leah made Simon to thank him for donating his bone marrow click here.

In Bristol Leah used to tell me how much she missed all of her family, including Simon.

In Leah’s short life she realised what was truly important – peace with God and the love of family and friends.

We must have done something right – she was always smiling!

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 Evelyn.

We initially spent quite a while with our Bristol haematologist & our Belfast haematologist. Then Horace & Evelyn went off for a walk in the sunshine while I went “walkabout” in the hospital with our TYA nurse.

She and I visited the Bridgewater Outpatients Suite & ICU & some other places. I was able to show my appreciation to some of the many staff who had been very kind to us.

When I was thanking the nurses in ICU one of them remarked “We must have done something right, for she was always smiling!” It was true – as Leah lay in ICU on a ventilator, she smiled and laughed and hugged people she cared about and told us that she loved us. If she caught me looking sad she pulled up the corners of my mouth into a smile with her fingers. She radiated joy and peace. She knew that death was a possibility and she was ready to meet God.

I had some very positive conversations on Tuesday with various members of staff who were involved in caring for Leah. Although difficult and painful for me, it was also very healing.

An extra bonus before leaving the hospital was a meeting for coffee with a mum from Ballymena whose child had a bone marrow transplant in Bristol around the same time as Leah. Her child is slowly recovering. My friend and I had a great chat, we had so much catching up to do.

Horace & I then met with our eldest daughter Rachel for lunch in the nearby “Mad Hatter” cafe that we used to go to when Leah was with us. Some of the staff recognised us and sympathised with us on our loss.
I really felt upheld in prayer throughout it all and I felt a deep sense of peace in my heart – thank you all so much.

The main purpose of the meeting with Leah’s Bristol haematologist & her Belfast haematologist was to discuss the findings of the mini post mortem that had been done on Leah’s lungs.

After Leah died a biopsy was done on Leah’s lungs and a tissue sample taken. I wasn’t overly hopeful that there would be any major revelations from this. I was just hoping that there would be no “nasty surprises” i.e. I was hoping that the pm would NOT tell us that Leah had in fact died from an illness that could have been prevented or treated, if it had been diagnosed in time.

From that point of view it was “good news” – they tested the tissue sample from her lungs for everything they could think of testing for and EVERYTHING came back negative, so Leah’s cause of death remains “idiopathic pneumonia syndrome”.

Wikipedia describes this as follows – “Idiopathic pneumonia syndrome is a set of pneumonia-like symptoms (such as fever, chills, coughing, and breathing problems) that occur with no sign of infection in the lung. Idiopathic pneumonia syndrome is a serious condition that can occur after a stem cell transplant.”

The doctors on Tuesday gave us all the time we needed – we discussed lots of different aspects of Leah’s illness and we talked about our memories of Leah herself too.

“I only have eyes for you”

Leah had a GATA2 gene mutation – this type of genetic defect is rare and was only first discovered late in 2011. Leah was the first person in the UK to be identified with her particular variant of it. Leah’s bone marrow transplant cured her myelodysplasia and monosomy 7 but could not eradicate the underlying genetic defect and Leah understood this.

After her transplant Leah asked Dr C what other ways this genetic mutation could affect her body but he explained that as research into GATA2 genetic defects was all so new that this information did not exist as yet but as it became available from other parts of the world then he would pass it on to us.

I have now asked Dr C that as future discoveries enable them to retrospectively make sense of the jigsaw pieces of Leah’s various symptoms and complications that he will come back to me and tell me, as my brain likes to make sense of these things. In particular, the spontaneous spinal fracture that Leah experienced after only 3 months on steroids is not fully explained. Her steroid therapy had actually been discontinued the month before her spinal fracture was even diagnosed.

Nevertheless Leah has now received the ultimate healing and is rejoicing forevermore with her Saviour in heaven. I like to listen to these words by Matt Redman and imagine what it’s like for Leah to no longer have a broken body –

“Endless Hallelujah”

“When I stand before Your throne
Dressed in glory not my own
What a joy I’ll sing of on that day
No more tears or broken dreams
Forgotten is the minor key
Everything as it was meant to be

And we will worship, worship
Forever in Your presence we will sing
We will worship, worship You
An endless hallelujah to the King”

Psalm 116:15-17 Living Bible (TLB)
“His loved ones are very precious to Him, and he does not lightly let them die.”

On Thursday 22nd May ’14 some special people have arranged to take me to see/hear Matt Redman playing live in Belfast – I’m so excited but I know it could be emotional too.

GATA2 genetic mutation

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 voice that something was wrong. He said “We have completed Leah’s gene sequencing and discovered that she has a GATA2 genetic mutation that can cause a familial type of myelodysplasia.”

He went on to explain that the next step would be to test Leah’s brother (the hospital already had samples of his blood suitable for this) to see if he was carrying the gene. If he was found to be carrying the same genetic defect, then his bone marrow could not be used and Leah’s transplant would have to be postponed until a suitable match could be found from the world wide registry.

Dr C said there was several types of GATA2 gene mutations and the type found in Leah’s blood (p.Thr354Met) had never been seen in the UK before. My husband and I also needed gene testing as a matter of urgency.

Depending on which of us tested positive, then they would know who else in the extended family would also need testing. An appointment was made for us to see the geneticist in Belfast on the following Monday.

My world was spinning out of control and I was struggling to breathe.

I thought I already knew how bad this could get.

I had only recently begun sleeping through the night again since Leah’s original diagnosis in April. My concentration and attention span had almost returned to normal.

Now I could once again feel the physical symptoms of shock seep through my body.

Did this mean that more than one of our four children could have a ticking time bomb inside their body?

Would we have more than one child needing a bone marrow transplant?

Would Leah ever make it to transplant?

I needed to rein in these thoughts and focus.

I asked Dr C if he had informed our hospital consultant in Belfast about this latest development and he replied that he had an email ready to send to him but he wanted to discuss it with me first before informing him.

Dr C said that we would know whether our son or ourselves were carrying this genetic defect by the end of the following week.

When we had our first outpatient appointment in Bristol, Dr C had discussed with us some possible genetic implications of Leah’s situation and had put in a referral to the geneticist in Belfast.

I hadn’t really liked the sound of this and had secretly hoped that it would be many months before we found ourselves face to face with a geneticist, listening to potentially more bad news.

Now here it was and I was scared.

I was also relieved, that in the light of what we now knew, that we didn’t have long to wait for further clarification.

Overall, the NHS has been very good to us.

As soon as I got off the phone Leah was by my side “What did he say?”

She never missed a thing.

I had left the room to take the call but she had heard me say hello to Dr C. I tried to take the sting out of the news as I repeated the information to her, I tried very hard not to sound like I was in acute inner turmoil.

I explained about genetics and patterns of inheritance and stressed that it was really important not to speak too freely about this until we knew what we were working with.

I said that I understood that she needed emotional support and advised her to choose a small number of close friends whom she could trust, and to confide in them and get them to pray for and with her.

I really wished that I didn’t have to tell my 15 year old daughter about any of this stuff, but the geneticists appointment on Monday was for her, as well as for my husband and myself.

As always Leah appeared to deal calmly with the information.

On Friday (the next day) our haematology consultant in Belfast City Hospital phoned me. He asked me how I was coping.

I said that I was quite stressed, but that I knew that he and Dr C were excellent doctors and that Leah was in good hands. I also told him that no matter what lay ahead for us as a family, that God would give us strength for the journey. His genuine kindness and concern were very evident.

Saturday morning I was feeling so crushed, defeated and devastated that I just didn’t know how I could possibly keep going.

I halfheartedly opened the STREAMS IN THE DESERT App on my phone that I used every day and read this re Numbers 13:33 – they saw the giants but Caleb and Joshua saw God. Those who doubt say “we can’t do this” but those who believe say “let us go on……for we are well able”

It was the most appropriate word of encouragement I could possibly have received.

One of the constant challenges for me in all of this has been the question “Do I really believe what I say I believe?”

If I truly believe in a God of love then what is there to fear?

Realistically speaking though, one of the big problems is the emotional roller coaster you step onto when a life threatening illness enters your life.

You think you know what life is all about then wham! the roller coaster takes a nose dive and none of your existing strategies or coping mechanisms are anywhere near enough to get you through this new phase in your life.

With each new development along the way you have to learn new coping strategies.

When the roller coaster stops for awhile you might even think that things really aren’t all that bad, but suddenly and with no prior warning the roller coaster car takes off again at breakneck speed and this time the dips are steeper and the rails seem thinner and there’s even a few loop the loops and once again you ask yourself “Am I able for this?”

For me the answer to that question has to be “I am weak but He is strong”

Monday came and the three of us headed out on the by now all too familiar 70 mile journey to Belfast City Hospital.

The geneticist turned out to be pleasant, friendly and easy to talk to.

We had a list of questions.

He told us that GATA2 mutations are inherited in an autosomal dominant way, so if either Horace or I tested positive then the siblings of whichever one of us tested positive would be considered for genetic testing also. If one of our siblings tested positive, then their children could possibly have inherited the genetic defect too. The best case scenario would be for both Horace and I to test negative.

He also said that someone could have the genetic defect and not develop myelodysplasia, although they could develop other disorders associated with GATA2 mutations.

We asked about Leah’s eggs that had been harvested and he said that her eggs had a 1 in 2 chance of being affected by this genetic mutation and when the time came for Leah to need them she could be referred to Guys Hospital in London for pre implantation genetic diagnosis.

On Friday 5th July @ 10.30am Dr C phoned us with the good news that the Horace, myself and Simon were clear of the GATA2 genetic defect. He said that this meant that Leah’s genetic defect was “de novo” i.e. this was the first time that it had occurred in our family.

I was so relieved to hear this news that I was scarcely capable of coherent conversation. Once again I felt weak and on the point of collapsing, but this time it was for happy reasons.

It was such very welcome news.

The roller coaster car that I was travelling in, glided temporarily into a lay-by.