Hi our names are Trent and Mary. When our first baby, Ellen, died of Neonatal Hemochromatosis, we had no idea what it was or what it meant. We hope that sharing our story of Ellen will help people who may have experienced a similar loss. Because these things affect us all differently we’ve both had a go at writing down our story:
On November 9, 2003 ours lives changed irrevocably when our first born baby, Ellen Elizabeth Jordan gave us a big surprise when she was born by Emergency Caesarean in the Mt Isa Base Hospital. I (Mary) was only 33-34 weeks pregnant when I went into spontaneous labour at about 8.30 this Sunday morning. Less than four hours later Ellen was born. Despite all of the shock, we were delighted with our baby girl and although she was only 5 pounds or 2.2kg everything was wonderful. She did need a little bit of help breathing which we were told was pretty normal for premmie babies.Some hours later at about 3am things had soured a little. Trent had gone home for the evening and we were both getting some well earned rest when I was woken by the Mt Isa Paediatrician. Apparently Ellen was not doing so well and they were calling out the Special Care Retrieval Team to take Ellen back to Townsville using the RFDS, (1000kms away). Did I want to go? Well of course I did, but for some reason I did not feel well enough to do it. I felt bizarre and confused and did not really understand what was happening. I rang Trent in a very confused state and he came to the hospital straight away.
The retrieval team arrived at about 8am and made an assessment of Ellen. The prognosis was not good. They did not think that Ellen would make it back to Townsville nor that there was anything they could do for her. We made the hard decision not to prolong things, but to take Ellen out of the Humidicrib and say our hellos and goodbyes all at once. Our hearts broke as Ellen died just 22 hours after she was born.
I do not remember much of the rest of this day, November 10, 2003 or the next week in fact. I do know however that the day after Ellen died we went to see her in the Morgue and were being very sensible about her death, and I was acting very bizarre. Family gathered around us and life seemed to go on, why was everybody looking at me…At least Ellen didn’t suffer I kept telling myself, and would they please ask the locals who lived in the grounds of the hospital to turn their Reggae music down.
Three days after Ellen’s death, our world was turned upside down yet again. My slightly bizarre behaviour was somewhat explained when I suffered from a long seizure. To stop the seizure I was placed in a drug induced coma and once again we were on our way to Townsville. I know that the next few days were some of the most difficult days in Trent’s life as he faced living without Ellen and now possibly me. I was gravely ill for the next few days. I would not wish this on anyone and News items about strangers now have much more meaning for us.
Four days after my seizure I was brought out of the coma. Thankfully I had no brain damage and I was determined to make a full recovery starting then. We were very blessed to be looked after very well by hospital staff, family and friends and our employers during this time.
After a couple of weeks in hospital Doctors were convinced that I had suffered an Eclamptic Seizure and I was allowed home.
We went home to Mt Isa to remember Ellen. (Link to Trent’s words at Ellens funeral). It was very sad; however we were amazed and inspired by the number of people who shared the stories of their lives and how they were touched by the existence of Ellen. We were also very thankful that I was on the mend. We felt very loved Our employers recognised our need to heal and transferred us back to our family in Brisbane. We eventually ended up in Townsville.
It took three months for the results of Ellen’s autopsy to be reported back to us. This seemed like an eternity as the desire to have another baby pulled at our heartstrings in an almost unbearable way. The results of the autopsy were very confusing to us. No one had ever heard of Neonatal Hemochromatosis, what was the cause of this strange problem that had taken our little girl away from us? Could this be a misdiagnosis?
Our story seemed to travel from pillar to post and friends of a friend of the family happened to be specialist in NSW in this area. They offered to review the autopsy. They confirmed the diagnosis. We had so many questions and felt lost. The genetics people did not seem to have any idea about NH and even the Feato Maternal Specialist were at a loss. In the only way that we know how to cope, by gaining information we turned to the internet.
Hours upon hours of research with the medical dictionary marked as a Favorite, Trent and I scrolled through the references to NH. Most of the time we really didn’t know exactly what the medical papers were saying. Gradually we started to get the picture, that the odds of us having a healthy baby weren’t wonderful. After consulting with a number of Specialists and hearing their opinions we decided to have another baby, knowing full well that there was a chance that it could die. My health in another pregnancy was also a concern.
We were lucky that getting pregnant wasn’t the difficulty for us, and so once the recommended twelve months had passed, it was only a matter of months before we were heading down the path of no return. I accepted the odds as they were and proceeded to throw my way up through my pregnancy. Trent however could not let things be…..he needed some control.
Life was very stressful, and we wondered often if we had made the correct decision. I don’t think we would have coped with losing another baby.
Trent’s diligence paid off. In early January he discovered a reference to Dr Peter Whittington’s Lancet article. On a whim he sent an email to Dr Whittington telling him about Ellen. To both of our amazement Dr Whittington was sitting at his computer when Trent sent the email, and responded immediately. This was our one hope.
Emails and copies of the Lancet article in hand we approached our Obstetrician with Trent’s find. She shared our hope, but needed to review the information and discuss it with her colleagues. After much discussion we (us, Obstetrician, Haematologist) decided to approach the Red Cross for permission to receive the immunoglobulin. Permission was granted, largely due to the lancet article.
By this stage I was 17 weeks pregnant and the treatment was recommended to start in week 18 of the pregnancy. I started the treatment just in time.
I was so scared, but we had to try for another baby. We would never forgive ourselves if we didn’t.
In the end our gamble paid off, largely due to the Treatment. I had a reasonably trouble free pregnancy and we have our beautiful baby boy, Harry. Harry is such a large part of our life. We are forever grateful to the people who made this all happen. We also know how fickle life can be: had Ellen not lived and died, we would never have had Harry, she has enriched our lives immensely.
Ellen was born on Sunday 9 November 2003 at approximately 11:30am. We woke up on the Sunday morning, I was thinking about starting to tidy things up around the house after we’d spent the Saturday slobbing around. Friday had been Mary’s last day at work, Mary’s plan was to relax over the next 4 weeks before “BJ” (baby Jordan) was born. We only ever had the one ultrasound scan with BJ at around 18 weeks. Everything as far as we knew was looking fine.
Mary was having pains and thought they might be Braxton Hicks contractions. For some reason (probably because I was still waking up and looking at the clock regularly to justify an extra 10min snooze) I began to notice that these pains were pretty regular about every 10 minutes. We decided that the contractions were real and went to the hospital.
Mary was quickly hooked up to a monitor to try to understand what was going on. That was when the first sign that things weren’t all OK emerged. The cartiotogograph (measuring the baby’s heart beat) would drop off after a contraction – ie an indication that the baby’s heartbeat was dropping and becoming weak after each contraction. It was pretty obvious so we asked the nurse what it meant. I can’t remember the exact answer but she indicated that it was a sign that there may be a problem, such as the umbilical cord being caught around BJ’s neck. The letter from Dr Warren later described the monitor trace as a type II deceleration.
By the time the Dr Warren arrived at around 10:30am, the contractions were still happening (though not getting any quicker or worse) and he described the contractions as irregular. The doctor examined Mary and found that BJ was already at station +3 although here cervix was not dilated at all. A scan then showed both a very large placenta and little fluid around the baby. I can’t quite remember these scans taking place and am unsure whether I was present. My memory is that the decision was made reasonably quickly that an emergency ceasarean section was required due to foetal distress.
BJ was born at about midday, and according to the notes she cried spontaneosly. I think I remember hearing a caughing noise, but I’m not sure, Mary doesn’t remember. Helen the midwife took BJ and I held her very briefly showing her to Mary before she was transferred to a crib. There was a sense of urgency about Helen. The crib had to be wheeled down to the bottom floor in the Mt Isa hospital and I remember being frightened when Helen gave BJ a quick poke (definitely the wrong word but I’m not sure what the right one is) to encourage her to breathe. “OK so she’s going to need a bit of help to get through” I thought. She made it down stairs to the Special Care nursry where she was on oxygen, and the midwives asked if she had a name. I guess that was when BJ became Ellen Elizabeth.
We’d actually settled on the name Ella, but not long before one of the managers from work had a girl called Ella and we figured we needed a new name. According to our book of 75,000 baby’s names Ellen means “shining light” (the Scotish form of Helen). In the days following her death we both liked the thought of her as a shining star looking down over us, and were thankful for the name change (probably helped by the imagery in Helen’s poem). Do I believe in fate? no… well maybe…
Mary was in recovery for an abnormally long period of time. She recalls being particularly frustrated with a nurse who was all too concerned with having to wait the extra hour or so while Mary numbed down. When Mary did eventually arive in the Special Care nursery, we confirmed the name Ellen (I think I told the midwives to pencil it in before I saw Mary). Unfortunately Mary was very tired and out of it – I assumed from the pain killers and other drugs and obviously from the whole birth process – and after a short while she went to the ward to rest. We didn’t get a chance to hold Ellen at this stage.
Back to a few details of the birth that became relevant subsequently. The obstetrician described the placenta as “huge, very friable and hydropic” and that it was removed piecemeal. Other than this, the ceasearean was described as “fairly normal” Mary was on intravenous antibiotics (Rocephin and Flagyl) and she developed some degree of hypertension (an indicator of the eclampsia to come?) after the operation which I understand was managed with analgesia and Nifedipine.
Ellen weighed 2200 grams and as I said earlier after some initial concerns she settled down OK. My understanding was that most premature babies needed a little help with oxygen and breathing so Ellen was no different. Thankfully by about this time (late afternoon) Robert, Mary’s brother arrived and we were able to share in the joyful moment. Later in the evening Robert and I went home and I sent out some emails spreading the news that while Ellen was struggling with breathing a bit, she’d made it into the world and had two very proud parents. Here’s what I said:
Hi all,Well the exiting news for the day was the birth of Ellen Elizabeth Jordan at 11:50am today (9/11/03). She weighed in at 2.28kg (about 5lb in the old scale). Being 5 weeks premature she’s been battling a bit, but it looks like she’ll be fine. Mum’s going well, though it’s all been a bit of a shock considering up until about 12 hours ago we were totally under the impression that the baby was at least another month away! Please feel free to forward this on to people I may have unwittingly left out of the email list. We’ll send out an update in the next day or so hopefully with a photo or two.
Trent and Mary
Unfortunately in the early hours of Monday morning Ellen’s condition started to deteriorate pretty rapidly. I got a call at 3am from Mary, who was obviously confused and distressed. The pediatrition had told her that Ellen may need to go to Townsville for treatment and asked if she would be able to go. For some reason (and this was probably a sign that all was not right with Mary) she said she couldn’t and called me. When I got to the hospital Ellen had been put on continuing positive airway pressure (CPAP) to provide adequate oxygenation. I had been watching her oxygen levels the previous afternoon – they were always in the 90’s and here the same monitor was now reading levels of 80 and below. I was about to spend a lot of time watching monitors over the next couple of weeks.
The pediatrition called John Whitehall from Townsville Hospital to retrieve Ellen. Unfortunately by the time Dr Whitehall arrived he said there was little that could be done. Amid pain and tears, Father Mick baptised Ellen as we took her out of the humidicrib, knowing she only had a very short time to live. It was an important ceremony and we’re especially thankful that Robert was able to be there. Robert is now Ellen’s godfather.
We took Ellen back to the room to spend the last minutes with her. It’s impossible to describe the grief – someone just ripped my guts out.
The causes of Ellen’s death at that time weren’t all that clear. Dr Whitehall suggested that the baby most probably had a chomosomal anomaly characterised by some soft signs with her eyes, low set ears, decreased tone and rocobottom feet. Ellen had no urine output (even despite drugs to promote urine output) and became hydropic post delivery. Cardiac failure was the ultimate cause of death.
Father Mick and Dr Whitehall provided some comfort to us. And there was another pediatrition from the retrieval team who asked whether or not we’d want an autopsy. We’re the sort of people who need to know the facts and understand so there was never any doubt that we’d like one, even though Father Mick pointed out that they do not always provide answers.
As it happened when the John Tonge Centre finally provided it’s diagnosis of neonatal haemochromatosis some months later Father Mick was part right. There were some answers but definitely more unanswered questions.
Throughout the day after Ellen died the midwives were great. Helen in particular came to talk to us at different times, she even wrote a poem which reduced us to tears.
There were a few problems with the arrangements for the post mortem (bureaucratic bungling) and Ellen’s body missed the flight to Brisbane. In some ways this turned out to be a good thing. It gave us a second opportunity to see her again, take some photos, sing her a song and let her know we loved her. I remember feeling a little strange about doing this, apprehensive – is it strange to talk to dead bodies? But it’s one of the things on the grieving trail that I’m really glad we did – if we had not it would have been a recurring regret.
Later in the afternoon things started to go a little awry. At the same point in time all our families, a visitor, Fr Mick and Dr Warren turned up. Mary started to get stressed and in hind sight there were probably signs that things weren’t great. Mary felt like she was on show, and it wasn’t the time or place. On top of all that Fr Mick and Dr Warren were talking about the politics of organising and getting autopsies completed.
I stayed with Mary that night, the nurses provided a small mattress on the floor of the room. There were a couple more signs that things weren’t right, Mary said she could see lines running up and down the walls and thought she could hear reggae music outside, that I was pretty sure wasn’t there. It was pretty difficult at that point to try and distinguish between (a) the pain killing drugs associated with recovering from a major operation, (b) the stress and grief associated with losing a child and (c) something else?.
In this case it looks like the something else was pre-eclampsia. Early in the morning Mary woke me suddenly. She was frightened and that her bed was moving and going to run over me. The nurses really good about it all and brought a double bed into the room so that I could lie with Mary. However as soon as the bed was set up and the nurses left the room, Mary fitted.
I called out for nurses who came straight back. The next 1/2h is a painful blur. I spent 20 minutes with the nurses trying to restrain Mary. Her movements were uncontrolled but forceful – hard to explain in words. She was making disturbing noises coming from some place of unconsciousness. Doctors came reasonably quickly and it’s hard to say how long it took before they managed to get oxygen to her – this was something that continued to worry me for the next 5 days as we wondered whether Mary had sustained any significant brain damage during the seizure.
My parents and Mary’s parents made it to the hospital about 1/2h after seizure started. By that stage it was around 3am in the morning and I was slumped on the floor in the hallway outside the room were Mary was now being intubated. The machines that go beep were all being hooked up, and things seemed to be settling down.
I remember Mum giving me a hug when they arrived – “Oh Trent”. It said it all – what can you say. In my head were obviously the thoughts spun – I’d just lost Ellen, was I now about to lose Mary?
Mt Isa Intensive Care Unit
Dr Warren arrived and spoke to us – probably an eclamptic fit was the verdict. There shouldn’t be too much of a problem. But there was.
Mary was transferred up to the Intensive Care Unit, where they struggled to get Mary’s blood pressure under control. Unfortunately it’s hard to find anything extremely positive to say about the Doctors. They were very good at introducing themselves, one of the Doctors introduced himself to us about 5 times, pretty much every time he walked into the door. Perhaps he couldn’t think of too much else to say. After a few hours the decision was made to call a retrieval team from Townsville and get Mary to the Townsville Hospital Intensive Care Unit.
Meanwhile the eclampsia diagnosis was still the likely suspect. I recall Dr Warren reading from a text book, talking to us about percentages regarding eclampsia. Dr Warren was fantastic in the support he provided us, but I felt like he was in uncharted waters. All in all I was pretty relieved about the decision to get Mary to Townsville and the best possible care. I think our families were too.
Mary was battling pretty hard at this stage. Intubated and hooked up to all manner of machines her body temperature was fluctuating and the nurses and doctors were still struggling to get her blood pressure under control.
The retrieval team arrived and then took some time to prepare Mary for the flight, there was no room for me on the plane. Luckily we were able to organise a commercial flight for Bob, Dad and I that was due to leave at about the same time. Robert, Wendy and my Mum would drive over to Townsville.
The retrieval team packed Mary up (yes I really mean packed), stabilised her as best they could and then were off. I had gone home to grab some stuff before flying to Townsville. Our flight on MacAir was due to leave at about the same time that the ambulance was due to arrive at the airport. I held the flight up while I waited for the ambulance to get to the Mt Isa airport from the hospital; there was no way I was hopping on that plane if I wasn’t 100% sure that Mary was also on her way to Townsville.
The flight from Mt Isa to Townsville were two of the longest hours of my life. Everybody knew Mary’s condition was pretty critical, nobody knew if she’d sustained any lasting damage from the fit, and nobody knew if and when she’d ever wake up. In my head, the recurring thought was that I’d arrive in Townsville to find that she had died.
Just after takeoff the crew confirmed for us that the RFDS flight had taken off before our flight and were on their way. Cruelly our flight had to stopover in Cloncurry on the way to Townsville. Numb is one of the words that describes how I felt. I will forever be so grateful for the RFDS, and the job they did for Mary, but I never want to have to go through that again.
Perhaps the first sign of hope finally came when we arrived at the hospital. Mary had arrived at the intensive care unit moments before us and was now being stabilised. I remember letting out a cry – of relief, joy, hope. It’s a clear memory – extreme emotion voiced. During the subsequent 20 months, I constantly relived that feeling and projected it forward into the future – the moment that we’d give birth to a health child.
Townsville Intensive Care
The next days are a blur. Mary lay in a coma, and I sat beside her. It was a tough. I had to constantly tell the new nurses coming on shift all of Mary’s details – I think the retelling of the story was somehow cathartic, reinforcing that this surreal experience was real and seeking reassurance from the medicos that I was doing everything right, that Mary was doing everything right.
Mary metabolized the drugs very well (so there was nothing wrong with her kidneys). Every now and then she would stir in her sleep. Her movements were very strange, muscles contorted, a being struggling to be free but tied in knots and unable to move through the drug induced fog. We were actually both lost in a fog. I clearly remember the feeling that I was completely unable to see the future. It was, in fact, the only time in my life when I can truly and honestly say that I was simply living the moment.
When Mary did stir I’d jump out of my chair and start telling her that she was fine, that she was in the Townsville Hospital, that her family loved her, that I loved her and that everything would be OK. By the time I’d got that out, the nurses had normally administered a quick 3mL shot of ‘mother’s milk’ sending Mary back into the thick of the fog. The nurses in intensive care (as with the midwives in Townsville) were unbelievable. Mary was receiving the best care possible and I had no doubts about that. Outside of Mary’s ward – in the real world – mobile phones were ringing, parents were worrying, friends and family were helping. It would have been impossible to get through the experience without that sort of support.
One of the most distressing parts of the experience started on day four? (I lost count). The Doctors began trying to ‘wake’ Mary up. I was present in the room on the first of these occasions and helped with holding her. When remembering this experience thoughts of the Exorcist come into my head – the reality was nothing like it of course (no spinning heads or vomiting) – but having known Mary all my life it was like she was possessed. The first two attempts failed, Mary wasn’t ready (Doctor speak for: that didn’t work, we’re not sure why but we’ll try again later and hope for the best). I wasn’t present for the second try but I was in the room when she was finally extubated.
Mary’s movements were large, rigid and uncontrolled for the next 12 hours or so. She would jump up and moan at the lights in the room, raising her arms – who’s there helping me? I’m here! It took at least two of us to protect her from herself. The scary thing was that no-one could tell me if she would improve. I’d asked the Doctors and nurses a lot of questions about brain damage while Mary was asleep. When you boil it all down (from the perspective of an engineer) the human body is really just a lot of pipes with an important pump. There’s a lot of chemical reactions going on as well, but in essence the well known laws that ensure conservation of mass and provide us with the basis of fluid mechanics all apply. However, the understanding all seems to break down when it comes to the brain. On of the consultants explained it to me with a computer analogy. Our ability to examine damage to the brain using cat scans and the like is akin to taking the lid off a computer and peering at the mother board. If you can see damage at this level you know something is wrong, and it will be pretty obvious in just about everything the computer does, in fact the computer is unlikely to do anything. And so it is with a cat scan, if the damage shows up at this level then it’s going to be obvious to anyone who meets the person. A cat scan just gives a better indications about where the damage is and perhaps explains the why a bit better. However, brain damage can be a lot more subtle, and in the same way that taking the lid off a computer doesn’t tell you anything about the inner workings of software nor does a cat scan tell you much about the nuances of our memory, thoughts, or emotions. How would they be affected in Mary in the long term? While I had asked these questions during Mary’s coma, I was detached, this was information gathering. Now that Mary was waking the answers became more important. The future flog was starting to lift, but there were still a lot of potential futures out there. Mary did have a cat scan before she was woken up and there was no damage.
After about 24h or so Mary’s movements became more controlled, she was obviously not herself, but there were enough signs to show that she was on the mend. When John and Debbie went in to visit, Mary (whose vision was pretty ordinary at the time) was busy feeling for an engagement ring on Debbie’s finger! I’ll never forget Mary clumsily grabbing my head with hands on either side and pulling me towards her for a kiss, she later told me that she was seeing three of me and figured she had to hold on tight and kiss the one in the middle.
Mary was transferred down to the Medical Ward and stayed there for a couple of weeks before she was well enough to leave and we could fly back to Townsville and get ready for Ellen’s funeral.
Should we try again?
In all it was probably at least 12 months before we were back on an even keel again. It’s impossible to split the experience up and say that certain things were caused by pregnancy, Ellen’s death, or the eclampsia, or both of our struggle to come to terms with it all. If there’s one bit of advice we received that was spot on, it was from our doctor in Brisbane in early 2004 who advised to wait at least 12 months before attempting to have another child.
It was a few months before the autopsy report became available and when it did our GP had never heard of the conclusion: “Neonatal Hemochromatosis” (NH). He ordered tests for both Mary and I to check whether we carried genes for hemochromatosis – a genetic disease which bears no realation to NH in it’s cause. At the time it was difficult to find any information on the disease (next to nothing on the internet that we could find). We got a second opinion on the autopsy and had the slides reviewed by the Westmeade hospital in Sydney. They reached the same conclusion.
During the 6 months after Ellen’s death we moved from Mount Isa to Brisbane and then to Townsville. We eventually decided that we did want to try to have another child, but this came only after numberous meetings with doctors and genetic counselling. The genetic counselling was a bit of a joke – again there was little understanding of what neonatal hemochromatosis was – the counsellor at first told us that there was a 75% chance that future pregnancies would end in the same way as Ellen, and then changed her mind saying 25% half way through! Not very encouraging. We began to research things ourselves with more dilligence and found to our dismay that the counsellor was probably right the first time around. Nonetheless we wanted to take the chance and even discussed whether this was an ethically sound approach with the ‘at risk obstetrician’ in Townsville, before making the decision. At this stage we had not heard of Dr Whitington’s treatment, and so when we found out Mary was pregnant in late 2004 we believed that the little baby had a 1 in 4 chance of survival. Luckily for us we stumbled upon the IVIg treatment for Mary, and Harry was born on 25 July 2005 🙂