The 16th Birthday

Today I’m out with Simon and his friends, celebrating the fact that he will be 16 tomorrow.

Sixteen – the birthday that Leah never got to celebrate because she was so ill.

She had no candles, no cake, we didn’t even sing happy birthday, she was just too sick.

We told her that we’d wait and have a big celebration when she got home.

I think that the angels in heaven must have had a party with her instead, because when we finally brought Leah home, it was to “wake” her body.

All of Leah’s unopened birthday presents were hastily stashed in a cupboard, along with her recently unwrapped Christmas presents.

Ever since Simon was in the final stages of Primary School, how he chooses to celebrate his birthday hasn’t changed.

I load up our big blue Citroen Synergie with him and his friends. We head first to the cinema, then to McDonalds.

I enjoy having a car full of young people – it reminds me of how life used to be.

Actually, when Simon was even younger, I used this same 7 seater car to collect his friends and take them to a soft play area for his birthday.

What I find really hard to believe, is that when I first started doing this, the British Army was still in Northern Ireland.

That feels like another life now, but I clearly remember going to the army living quarters in Ballykelly, to collect two of Simon’s young friends.

One was part of a Hong Kong regiment and the other was part of a regiment from Fiji. They were such beautifully mannered young boys.

I would never want to go back to the days of regular bomb scares, tight security and having our streets patrolled by soldiers, but I liked the ethnic diversity that these families brought to the school.

Isn’t it amazing all of the changes that we experience in our lifetime?

Some changes we embrace and welcome, other changes are ones that we find painful and sad, but life never remains static.

I’m glad that we have a God who is always there for us and who never changes:

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.

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.

A Phone Call Can Change Everything

“My name is Dr ….. and I work in Belfast City Hospital. Has anyone given you the results of Leah’s bone marrow biopsy?”

It was Friday afternoon the 19th April 2013. I had been sitting on my bed, typing up an assignment for a work related course that I was doing, when the phone rang. It was a withheld number and I had hesitated before answering, not wanting to be interrupted by yet another stranger’s voice trying to sell me a product that I neither wanted nor needed.

My heart started beating faster and breathing became more difficult. This was a stranger’s voice alright, and although he wasn’t trying to “sell” me anything, the news that he was delivering, was something that I neither “wanted nor needed”.

He told me that Leah had a type of bone marrow failure called myelodysplasia and that she needed a bone marrow transplant.

I asked him if he was a paediatric haematologist and he said no, that he was an adult haematologist.

So I said “Why are you ringing me then, Leah already has an adult haematologist who we like very much and we don’t want another one.”

He replied that he was also a transplant coordinator. I then said that we had been told that if anything sinister was found in our daughter’s bone marrow biopsy that she would immediately be transferred to the care of the paediatric haematologist at the Children’s Hospital in the Royal who had done the biopsy. Our daughter was only fifteen years old.

This doctor replied that she wasn’t available at the moment ( I found out later that she was on honeymoon but that there was other paediatric haematologists).

He went on to say that he wanted our whole family in his consulting rooms in Belfast on Monday.

I asked “Is my daughter’s medical condition so serious & so urgent that we have to come and see you so soon?” And he replied “Yes – but you can come on Tuesday if you prefer?”

I then asked Leah if she would prefer to miss school on Monday or on Tuesday and she consulted her class timetable and said Tuesday, so Tuesday it was.

The reason Leah’s siblings were required was for “tissue typing” for a potential match for the bone marrow transplant.

Then he said “Miriam is only 9, she might be a bit young.” I told him that Miriam has very good understanding and she would most certainly want to be a part of anything that’s being done to help Leah.

I said “Please don’t make a difference in my children.” So he told me to bring all four of them.

I asked him where we had to go and he said “Well, you know where the Tower Block is at the City Hospital?” I was losing it at this stage and I said rather angrily through my tears “Why would I know where the Tower Block is? When in my entire life have I ever needed to know where your Tower Block is?”

He gave me more directions and the phone call ended.

Leah had been sitting beside me all this time, googling myelodysplasia and bone marrow transplant on her smart phone. That’s how she received her diagnosis.

I have to say, bad and all as that phone call may sound, it was wee buns compared to what we heard when we met the doctor face to face.

Nothing I read on the internet over the weekend was anywhere near as bad as what we were told when we got to that first appointment.

The phone call only told me that my daughter needed a bone marrow transplant and I knew very little about bone marrow transplants.

In that first appointment the doctor was so blunt about the implications of Leah’s diagnosis and consequently all the things that could go wrong before, during and after the transplant that we were left feeling that it was actually a miracle that Leah needed in order to survive! I write about this first appointment here.

It was a huge relief a week or so later when we got the phone call to say that Simon was a 10/10 bone marrow match as the Dr had said that if none of the siblings were a match then Leah would need a donor from the World Wide Registry.

He’d said that this could take up to 4 months and during the wait Leah’s disease could advance rapidly and her chances of survival could be greatly reduced.

A short while after this we also got word that Leah had been accepted by Bristol Children’s Hospital for transplant.

By then I knew that this was also good news as Bristol is a Centre of Excellence for treating rare blood diseases such as Leah’s and having her transplant there would greatly increase her chances of survival.

Gradually hope was being restored.

I have always loved the song “10,000 Reasons” by Matt Redman but it took on a special significance for me around the time of Leah’s diagnosis, especially the verse

“The sun comes up; it’s a new day dawning
It’s time to sing Your song again
Whatever may pass and whatever lies before me
Let me be singing when the evening comes”

For me the challenge each day was to be still singing when evening came.

In those early weeks and months after Leah was diagnosed I found it almost impossible to pray or read my Bible – I wasn’t angry with God, I have never felt a need to ask “Why?”

I just felt so overwhelmed by all that was happening and so numb with shock that the only way in which I could engage with God was through listening to worship music and singing along.

I haven’t a note in my head and can’t sing in tune to save my life, but I used to get on my own in the house or in the car and put on CDs of worship music and sing to God with all of my heart. This helped me to connect with God and feel His presence with me.

What if Your healing comes through tears?

Bristol Children’s Hospital

On Friday 14th June 2013 Horace, Leah, Simon, Miriam & I went to Bristol Children’s Hospital for Leah’s first outpatient appointment there.

I faced this appointment with a mixture of fear and excitement – fear of the unknown, but excitement because this was the Centre of Excellence that had the potential to save Leah’s life. I knew that the day long appointment in Bristol would involve Leah & Simon having various tests & I imagined that the rest of the time would be spent meeting staff and having a tour of the facilities.

What I didn’t know was that we would spend approximately three hours with Dr C – the most amazing, most knowledgeable, most respectful & most compassionate hospital consultant I have ever met.

However, during this time he told us many things that we didn’t want to hear – about Leah’s diagnosis and prognosis. He gave us detailed information about the treatment Leah would receive and the short, medium and long term risks of this treatment & he talked about the possible genetics of her situation, which sounded scary.

Meantime Miriam was elsewhere playing happily with kids with bald heads and some with nasogastric tubes, with the support of a lovely Play Therapist.

I had asked for Simon to be excused from the discussion but was told that the law states that the marrow donor has to hear all the gorey details regarding the patients prognosis/treatment so that if the bone marrow recipient dies the donor will know that it was their illness/treatment that killed them & it was nothing to do with the marrow donation.

My husband took weak listening to all we were told and had to lie down while Dr C went and got refreshments for everyone.

My head was reeling.

Leah remained calm & cheerful throughout.

We had a short break for lunch & went to McDonalds.

The kids ate well – I felt ill & overwhelmed.

That evening at the airport I had an overwhelming urge to vomit – I wanted to purge my body of everything we had been told about this disease process that had taken residence in my beautiful daughter’s body and all that this implied for her future.

While waiting for our flight to be called I went off on my own for a short time & stuck earphones in my ears & put the song “Blessings” by Laura Story on continuos repeat.

She wrote this song after her husband was diagnosed with a brain tumour. It is a song that brought both Leah & I great comfort in times of stress & confusion:

Thankfully the next day was “FocusFest” in Belfast and although I was very tired from two nights of very little sleep, it was so good to be there amongst hundreds of women worshipping & praising God & my soul was gradually restored.