Diagnosis - Part 3

So at last our son was with us. The months of anguish had given way to the joy of a new birth. But this was far from normal. Instead of smiling friends and relatives bearing flowers and teddy bears before the proud parents taking their new child home we were left in a distant city watching our tiny son struggle for life through the walls of an incubator.

The good news was his heart seemed stable and the threat of early surgery was gone. But he was tiny, about 3 pounds. And there was no explanation.

His blood glucose levels had been taken soon after birth and were 1.9mmol/l (~34mg/dl). This was in the early morning. He had been given an extra boost of dextrose to get them up and then a slow rate of IV dextrose. His BGL came up to 5.0 (90). This was good, but...by 4.30pm he was 14.1 (~250), by 6.50pm he was up to 18.6 (~330). By 9.30pm he was 21.3 (~380) and neonatal diabetes was mentioned for the first time. He was started on insulin and after peaking at 24.6 (~440) just before midnight he started to come down, reaching 7.7 (140) by 6am. Quite a ride for his first day in the world!

We were expecting to be dealing with a baby with a heart condition. Now we had a tiny baby with neonatal diabetes....and a heart condition. I also had to look after our other two tired, confused and excitable children in a strange city while Vicky recovered in the hospital. Looking back I wonder how we got through. At the time I wondered if we would.

All smiles from the big brothers

Over the next week Finlay struggled along, each day seeming to bring a new problem. His blood sugars swung wildly from hypos to the 20s (360 to 500+). In such a tiny baby a small bit of insulin makes a huge difference, getting the balance right was near impossible. He was growing, but only very slowly, his stools were fatty and colourless, suggesting he wasn't absorbing his food and his liver might not be working properly.

At six days old he had an ultrasound of his abdomen to see if his liver was ok. The good news was that his biliary tree (the plumbing that drains bile from the liver to the intestine) looked to be in working order but they told us he was missing his gall bladder! This hit us hard as we had gone from a child with a heart condition to one with diabetes as well and now we were being told there was a third issue. How much could one child take?

And there was still no real explanation for his inability to digest his food properly.

On day eight we were given a reason. The pancreas is responsible for producing insulin. It is also responsible for enzymes that digest food in the intestine. The fact that he was diabetic and wasn't digesting his food suggested that perhaps is pancreas was missing too!!

This was my lowest point. Our son had multiple heart defects and we were being told he was now missing two other organs. How could he survive? All I could think was the next meeting we would be sat down and told to prepare to say goodbye. We went back to where we were staying with our other two boys, trying to be as normal for them as we could. I can't remember much of that night but I doubt I slept much.

The next day we were ushered into a room with the neonatologist that had been looking after Finlay. "This was it" I thought. He sat us down and explained that he'd searched the medical literature. In his understated words Finlay "isn't on the first page of the textbooks". He then gave us a paper he had found in an obscure German journal. It detailed the story of a German girl born with an almost identical diagnosis to our son. No pancreas, no gall bladder, serious heart defects. At the time the paper was written this girl was 2.5yo. Still alive!!!

All of a sudden we had gone from desperation to hope. This little girl had given us more than we had dared hope for.

The paper also had a review of all the cases they could find of children born without a pancreas. There were 14 dating back nearly 40 years. Sadly most had died but it was clear that the more recent cases had a much greater chance of surviving. The doctors told us the first 6 weeks would be critical but if we could get past that there was every chance he would be ok.

First he needed an MRI to see if they could find any pancreas. To keep him still this required his first general anaesthetic at 9 days old. Several hours, and one collapsed lobe on his right lung, later they had failed to find any pancreas. So we had our diagnosis. At last we could get on top of his treatment rather than just chasing his symptoms. He was given pancreatic enzyme supplements with his feeds and, at 10 days old and weighing just 1.53kg, became one of the youngest and smallest children to go on an insulin pump.

Credit must go to the staff at the neonatal unit at Auckland hospital. None of them had ever seen an insulin pump before and suddenly they were responsible for using one to keep a critically ill baby alive. The suppliers put together a step-by-step guide for it and on it went. No practice runs with saline, just straight into his thigh and pumping away. We were all learning: nurses, parents, endocrinologists, neonatologists.

In all he spent 8 weeks in neonatal intensive care: 6 weeks in Auckland and 2 more once we were transferred home to Christchurch. Then on June 1st, 2008 we finally brought our third son home.

Finlay with his new pump

Diagnosis - Part 2

Because of the diagnosis of heart problems at the ultrasound we were put in the hands of the fetal maternal medicine unit at the hospital. This meant scans every couple of weeks to check everything was OK. With what was to come this turned out to be very lucky. Without the heart defects we would have carried on oblivious to anything and the outcome may have been very different.

Initially Finlay seemed to be doing well. Each two weeks we got to see the little guy developing and hear his heart pumping away. Despite the underlying problems all seemed well. We started to look forward to these extra ultrasounds. A silver lining to the cloud of his heart condition.

It was about the beginning of the third trimester at the end of another seemingly successful appointment, the sonographer was making all the measurements for Finlay's notes: head circumference, abdomen size, leg length, etc when she noticed that he was a bit on the small side. Nothing to worry about, just a one-off measurement. It would probably be back to normal at the next scan.

But it wasn't. Although his heart seemed to be beating away happily he had hardly grown. They couldn't find any reason, everything else seemed to be fine. At each of the now more frequent scans his heart took backstage to the new problem of his lack of growth. Early intervention was mentioned. As long as his heart seemed strong they thought he'd be ok but his size was the real concern.

In New Zealand all the paediatric cardiologists are in Auckland, an hours flight away on another island. With his heart problems Finlay needed to be born there in case he needed urgent surgery. After 36 weeks the decision was made to get Vicky on the plane.

During the last few years we've seen the best in people. The world can seem a harsh place with the daily dose of war and crime on the news but we've experienced the kindness and willingness to help those in need that makes us human. In Auckland, Vicky was confined to the maternity ward while I was staying in a motel about a mile away down the hill in Newmarket with our other two sons, then 2 and 5. Dragging two bored children who just wanted to stay with mummy back and forth from the motel to the hospital just added to the stress around the birth. But then a lady working in the Auckland office of Vicky's employers turned up with a spare car for us to use, a family we had never met but was related to Vicky's work colleague offered to take the boys when we needed, two friends living in Auckland gave up their time to help out where they could. To all these and many others we will be forever grateful.

After a week in the hospital the doctors decided it was time to get the little man out so Vicky was induced and in the early hours of the next morning Finlay made his appearance. With all the uncertainty about his heart and doctors unable to explain why he had stopped growing we had no idea whether he would come out alive, whether he would be whisked straight off for surgery or what the next few days would hold for us.

When he came out and gave a full-blooded cry it was amazing. The anxiety evaporated as he showed he was meaning to stick around for a while. He was small, but he was alive. After a quick cuddle with mum, he and I were whisked away to the neonatal unit for the start of what would be a long stay. His heart seemed to be stable and all signs were good. His initial blood glucose was low, 1.9 mmol/l (~34mg/dl) so he was given IV dextrose. Those numbers meant nothing at the time and blended in with the dozens of other figures and measurements that were thrown around. How that was going to change in the coming days and weeks!! But I'll save that for part 3.

In the palm of my hand: Finlay a day or two old

Diagnosis - Part 1

I've read and heard lots of diagnosis stories from parents of Type 1 diabetics. They're usually fairly harrowing tales of long, unresolved illnesses, excessive urination, dehydration, bedwetting which often don't get correctly diagnosed until the child goes into ketoacidosis and ends up in a hospital bed.

Our story is a little different. I'll need to break it into bits as it wasn't a single diagnosis, it was an evolving one over months.

Finlay is our third child. By the time Vicky was pregnant we were old hands at all this baby stuff. The first scan at about 10 weeks was fine: head, body, two arms, two legs. Everything in the right place. So when we went back for our 19 week scan we were as relaxed as could be. After all, it was a planned pregnancy so Vicky had been on the folic acid and vitamins, eaten well, looked after herself; I'd performed my bit with consummate skill; we were in our thirties but short of a risky age. Our other children were healthy. What could go wrong???

The young sonographer was very good. After she'd shown us the basics she started doing all the measurements while we grinned like Cheshire cats and started thinking of more boy's names. She started looking at the Doppler showing the blood flowing through the heart. Even with the third child I still thought it was great watching all the red and blue colours swishing through my son's body. It was all looking so good that the sonographer's calm, unflustered comment that she couldn't quite see something properly and was going to get her supervisor didn't raise a flicker of worry for us. Even after the supervisor said she would book us in for another scan at the hospital with a specialist the next day we weren't all that fazed. After all, she said that it might not be anything, the specialist would get a clearer picture.

I think the first realisation that things were far from good was the next day when we parked at the hospital and went into the radiology reception. Just as we were telling the receptionist our names someone appeared at our shoulder and whisked us straight down the corridor past the waiting patients. "ok, that's not normal" we thought as the penny dropped for both of us.

After much scanning and measurements and more Doppler images that seemed to go on for an age, the specialist sat down and told us the news that no expectant parents want to hear. Our son's heart appeared to have a number of problems. There were definitely some holes, and some other problems that she couldn't quite see properly. "Will he live?" I can't remember the answer but it wasn't a definite yes.

It was then that the enormity hit us. A few tears from Vicky while I did the staunch husband thing, comforting and giving empty assurances that all would be well. My stiff upper lip act lasted as far as the car....

Vicky plays the piano, and is damn good at it. When she's stressed she sits down and gives the ivory a workout. That morning the music soared. I stood in the kitchen listening, and completely lost any composure I had left. A minute or two later, the kettle finished boiling, I picked myself off the floor and got on with our new life. I don't think she noticed.

So what's the problem? (May be long and a little technical!)

My son has a number of health issues. Although they are somehow linked it's best to describe them separately as that's how we treat them.

First, he was born without a pancreas. This is a rare condition with around 30 cases being reported in the scientific literature, many of whom, sadly, didn't survive. We believe there may be a dozen or more cases still alive plus any that aren't in the literature. If you are one, we'd love to hear from you!!

Wikipedia gives a good explanation of what a pancreas does. Essentially it does two things, produces hormones, most importantly insulin, and produces digestive enzymes.

Being unable to produce insulin means that he is diabetic. The symptoms and treatment are pretty much the same as for a Type 1 diabetic. He wears an insulin pump which gives a steady rate of insulin through a cannula inserted in his thigh. For the most part this works fairly well but, as any Type 1 diabetic will tell you, controlling your sugar levels is a constant battle which no doubt I'll elaborate on (or whine about!) in later posts.

Finlay at 5 months modelling his pump

Not having his own insulin while he was in the womb meant that he stopped growing in late pregnancy as insulin is needed for good growth. He was born weighing 1.385kg (about 3lb) which is not as tiny as some of the really prem babies but with all his other problems was quite an issue. He is still very small for his age but we're trying to beef him up!

Not having the digestive enzymes the pancreas would normally produce means he can't digest and absorb his food. To treat this we give him enzymes with his meals. These are the same enzymes given to cystic fibrosis patients as their pancreases don't produce the enzymes.

The other organ missing is the gall bladder. This collects bile produced by the liver and releases it in response to food. As far as Finlay's health issues go this is probably the least worry and has hardly been mentioned by the medical staff. It appears losing your gall bladder isn't all that serious!!

The other main problem he has is his heart. The list is: pulmonary artery stenosis (the vessel going from the heart to the lungs was too thin); atrial and ventricular septal defects (3 holes in the heart); right ventricular hypoplasia (the right ventricle is too small); patent ductus arteriosus (a vessel just outside the heart that usually closes soon after birth stayed open) and a slightly malformed valve going from the right atrium to the right ventricle.

At 6 months his pulmonary artery was fixed, two holes closed and the stubborn blood vessel shut off. As for the rest we are waiting to see how his heart grows. If the right side catches up then he'll just need some minor heart surgery (if there can be such a thing!) and all will be well. If not, then some major replumbing will be needed.

Recovering well a couple of days after his op

His heart is the big unknown for us. What happens in the next few years will determine how much his heart is going to affect how he lives his life, what limitations he will have. For now all we can do is cross our fingers and shove it to the back of our minds. For now he is healthy, his heart is stable and he is off the cardiac drugs. Long may it continue.

But we've had a taste of what is to come. Before his earlier heart surgery he went into heart failure. Although it sounds terrifying it is actually a very gradual process, over a few months. He slowly lost strength and struggled to get enough oxygen round his body. We'd see his whole body move with each breath as his heart struggled. As he lost strength he couldn't manage to eat so all his feeds went down an NG tube, up the nose and down in to the stomach. After the operation he gained strength but the tube stayed in. A year ago the tube up the nose was replaced with a tube straight into the stomach. He is still mainly fed through this tube.

Finlay with his tube

Despite all the above problems he is an incredibly happy boy who delights in running after his brothers and playing with his preschool friends. We have great hope that his difficult start to life will be a stepping stone to a full life ahead.

Finlay in 2011