Oliver and Luke’s journey through their Bone Marrow Transplants at NewCastle-UK

Final Diagnose : Zinc Transporter Cell Defect

My name is Colin and I’m here to share our family’s story on our 2 children Oliver and Luke’s journey through their bone marrow transplants in 2012 and 2013. I’ve tried to summarize this story into a short story as much as possible, it spans over a 3-year period

The story starts in the familiar happy place that is the discharge from the maternity hospital after a new addition to the family. Oliver at birth seemed quite healthy and brought no concern to any of the medical professionals who cared for him. However, after a week at home Oliver developed what looked like an infection around the site of where the cord had started to come away and our public health nurse advised that we should bring him back to the maternity hospital to have him examined by a doctor.

By the time Oliver had been introduced to the doctors there was some noticeable blistering in isolated areas, his legs and abdomen. Oliver was admitted to the neonatal ward and over the next week underwent many tests in order to establish what the problem was. Everything from scalded skin to impetigo was ruled out. After the week was out and Oliver hadn’t made any improvements it was decided that we would be transferred to our Lady’s Children’s hospital in Crumlin.

Upon arriving at our Lady’s, we met with the Dermatology Consultant, Dr Watson and her team. After Dr Watson examined Oliver she thought it was best to bring us to the parent’s room and sit us down for what was some shocking news, in her opinion, it looked as if Oliver was presenting with Epidermolysis Bullosa. For those not aware of EB it shows little or no quality of life for the children and can be life threatening in its severest form. We were very upset. Dr Watson and her team took a skin biopsy and sent it off to the UK to hopefully tell us more. During that time, we managed to get Oliver home but soon after ended up back in hospital as Oliver’s weight and feeding had become an issue … Oliver was now 6 weeks old. Oliver ended up by being NG (nasogastric) fed, for parents this can be hard to accept.

After that Oliver started to attract doctors from different fields as something didn’t quite add up. It was on a Friday afternoon, when I was whilst in work that I got a phone call from Danielle, I could immediately tell she was crying. She just said you need to get here quick, there is something new wrong with Oliver and the doctors need to speak with us both immediately. Within the hour, I had arrived at the hospital and met with doctor Gavin and his team. Dr Gavin, had discovered that Oliver didn’t produce any of his own B Cells and unsure of what exactly was going on wanted to get Oliver to the great north children’s hospital in Newcastle for further examination and the possibility of a bone marrow transplant. At this point, we had no real idea as to what a bone marrow transplant was or what it entailed, as Doctor Gavin’s main priority was to get Oliver to Newcastle as soon as possible and insured all would be explained properly on arrival.

To say we were floored by the news would be an understatement, at this point, I currently had my own business which in the economic climate of 2010 was struggling to keep head above water. We had one day to try to organize our whole lives including work and all the commitments to  clients that comes with running a business, childcare for our than 6-year-old son Sean and finances as Dr Gavin had advised that if Oliver went for transplant he would be unlikely  see Irish shores for 6 months. Our family came to our aid and were a missive help within 36 hours and after an emergency Christening in the hospital, Oliver, Danielle and myself were transported by an air ambulance across the Irish Sea in an unseasonal cold weather for November (year of the bad snow for those who remember), and for those of you who haven’t been on an air core military helicopter will know how uncomforting it is that they will never complain about Ryanair again….
Upon arriving in Newcastle Oliver seemed to have deteriorate further and in particular his skin worsened and required round the clock care, but after a few weeks Oliver began to stabilize. For 6 weeks the doctors ran tests and took samples to try diagnose what was going on for Oliver and make a plan of how to treat him. During this time, my mother flew from Dublin every Saturday with our than 6-year-old son Sean so we could spend time with him and get some time off the ward while my mother sat with Oliver. Sean’s family unit had been completely turned on its head over night

It was on 21st of December, when consultant Andrew Genery came to speak with us, after weeks of tests and much deliberation the Team of Consultants that’s sit over the BMT unit in Newcastle had come to the conclusion that Oliver’s condition was something new and something they hadn’t treated before. During that time Oliver had started on a high dose of Immunoglobulin which had definitely improved things overall and so the decision was made that Oliver should go home to Ireland and remain under the watchful eye of the doctors in Crumlin. It was around this time we first met with Dr Ronan Leahy.  Dr. Leahy would prove hugely influential in Oliver and Luke’s care and still today he is, who keeps a close eye on things.

On return to Dublin, Oliver stabilized further and the use of steroid creams continued to help the skin, we were discharged home in February after a full 5 months in hospital, for the next year Oliver continued to thrive and apart from day to day skincare didn’t present with any major issues.

In February 2011 after a year at home Oliver caught a routine stomach bug that was around. The Doctors weren’t overly worried as tummy bugs generally stay in the gut and don’t cause any major issues, but for Oliver it landed him back in hospital. From there on it went downhill rapidly and after 2 weeks had an episode of HLH, for those that are not aware of Hemophagocytic lymphohistiocytosis (HLH) to summarize its really bad news, I won’t go into details with little ears present, but all I’ll say that Oliver went through a lot at that stage, thankfully Oliver got through it, but was closely followed by a Pneumocystis Pneumonia (PCP) which landed him in Intensive Care Unit (ICU) in our Lady’s. Once again Oliver was air lifted to Newcastle by air ambulance. This time the Doctors decided there was no more time and Oliver had clearly told them that immunoglobulin alone wouldn’t suffice so the decision was made to proceed with BMT. The doctors were uncertain as to how successful BMT would be, but also fairly sure that waiting for yet another major episode was not an option.

That week although still in the UK we signed the parents’ consent for Oliver’s BMT, the odds of success approximately 50% as a parent I don’t think there is a harder document to sign. As if things couldn’t be any more stressful my wife Danielle was now expecting our third baby and would be heavily pregnant for Oliver’s transplant, preparations were now also being made to give birth in the UK and we prayed Oliver would be off the Bmt unit by the time the baby was born.

In June 2012 Oliver started the long road of bone marrow transplant. It’s worth noting that at this point Oliver was under 2 years old, but had been to theatre 18 times. Despite poor odds and the many worries about what the transplant would bring Oliver’s, the transplant went surprisingly well and apart from the occasional line trouble had very little drama. On the 12th of August, Oliver was discharged, after a successful transplant and I’m delighted to say that from an immunology point of view he has never looked back. During Oliver’s transplant there was a lot of research carried out in Newcastle to try to properly diagnose Oliver’s condition and in the end, it was discovered that Oliver’s problems stemmed from a zinc transporter cell defect.

On the 26th of August we were blessed with our third little boy Luke, Oliver was still isolated to halfway house at this stage and was being cared for by Danielle’s mother while we went in to the maternity hospital. The next day we got the devastating phone call from one of our consultants Sophie and when she asked me if I was sitting down I knew there was bad news to follow, the blood sample taken from Luke showed no production of B-Cells and it was obvious that Luke would also require a BMT
Over the next few weeks things became fairly bleak as Oliver was isolated to half way house where I stayed with him, apart from that he was allowed to visit Luke room within the hospital where Danielle was confined to with Luke. Danielle’s mother had now returned home after taking the summer off to help through Oliver’s transplant. Luke had trouble with platelets and required daily infusions. There was also the usual daily skincare for both boys which took hours. There was to be yet another blow when we discovered that Luke was profoundly deaf. All in all, there was a lot to deal with and accept.
We muddled through and in November 2012 Luke was discharged to Dublin by government jet to wait being called for his bone marrow transplant the following year. We got to enjoy a much-needed break and Christmas at home after nearly a whole year in hospital. In February 2013 we returned again to Newcastle for Luke’s transplant. This time the odds were much better with a 90% success rate and Oliver was the living proof it could work. But in the usual twist of events, Luke’s transplant wasn’t as smooth as Oliver’s and was marred by problems.

During this time a fragile Oliver, still only getting over things was cared for by my mother in Dublin along with his brother Sean while Danielle and I would fly home separately for a day each week to try keep some kind of family unit for the boys

After 4 months on the BMT ward things slowly improved and Luke was discharged to halfway house and in July given the green light to return home to Ireland.

Luke would also undergo an operation 2 years later to have his cochlear implants installed.

Although it has been an unfortunate childhood for the boys in many respects we will always feel very privileged to have received the amazing treatment that we received in both the UK and here in Ireland for them. All the medical staff on both sides couldn’t have done more to make sure things went the way they went.

Travelling to the UK and spending nearly 3 years over there did take its toll in many other areas, our family unit was turned upside down in particular for our eldest son Sean who had to put up with a lot upheaval with his parents regularly having to live in the uk for 6 months at a time. My business which I had to dissolve and sell all of its machinery and assets in order to fund living in the UK. (it’s also worth noting that there are no social welfare payments put in place for anybody if they are out of the state and we found this out the hard way). During our time in the UK as mentioned there was many flights back and forward to Dublin to keep some type of family unit for children living in Ireland. We estimate that these flights were more than €7000 over the three years.

I know that there is talk of a possible transplant unit in Dublin for immunology children. This would not take away from the worry that it brings to parents but would bring immeasurable differences to the family’s in terms of the financial side of things and also the difference in having family and friends to give a hand, to support the parents during what can be really tough times.
Thankfully I can say today what is inevitably a very positive Story, I would like to take this opportunity to personally thank Dr. Ronan Leahy, for all that he has done for my family. And also, to make a public recognition to my wife Danielle for the amazing mother she is to all 3 boys, twice Danielle had to care for her tiny infants and watch them endure extremely hard times to put it mildly, she took this all in her stride and remained calm for them always, the boys are blessed to have such a fantastic mammy.
The boys are here today and I would be delighted if they could receive a round of applause for all their hard work.
Ladies and gentlemen- Oliver and Luke – Watch here the video of Colin’s presentation in our Family Meeting April 21st, 2018.