Finlay's Fantastic Fluorescent Frogs

Until recently we've been hooking Finlay's insulin pump onto the top of his pants. This has been a little difficult with him being so thin and the pump being so heavy. The best solution was a pair of rather stylish braces.

But as he is growing up situations change. The old solutions become the new problems.

Braces are very practical and occasionally can be very stylish (especially ones with dinosaurs on!) but when it comes to toilet training they become a bit of a nuisance. Teaching a child the basics of toileting is always a challenge but throw in unclipping of braces, making sure the pump stays out of the toilet, watching where the tubing goes, it all becomes a bit fraught.

So thanks to a mother's suggestion on a forum we have taken delivery of this neat backpack with fetching fluorescent frog styling via the Diabetes Mall that will hold his pump and keep it away from any risky ablution-associated dangers.

Finlay sporting his frog covered backpack as he searches for pirates through his makeshift telescope

So far it seems to work pretty well. He is able to drop his pants at will..... hopefully only when necessary, but boys will be boys! We have managed to avoid having to fish the pump out of the toilet bowl, Finlay seems to like it and the other kids at preschool seem to just accept it.

Unfortunately with his infusion sites still in his thigh we've had a site ripped out following an over-eager pant-dropping but this is a learning process and he'll figure out the intricacies in his own time.

 Looking pleased with his new gear

Why?

One question that has been niggling at me since Finlay was born is simply, why?

I think this is a common question for parents of children with chronic conditions. Why? What went wrong? Did we do something wrong? In many cases it can all be mixed up with feelings of guilt or anger or both.

For me it was more of a simple why. Finlay had a genetic abnormality. We weren’t to blame. There was nobody for us to blame. It simply was. Our genes mutate between every generation. Sometimes it makes no difference, sometimes it might be advantageous, and sometimes, like with us, it could be pretty devastating. Mother Nature plays to her own rules. She is often beautiful and awe-inspiring. Occasionally she sucks!

So I have never felt guilt or anger. Frustration, yes, oh yes!! But anger, no.

But the one question that wouldn’t go away was why? A genetic mutation, but which gene? What could lead to such devastating abnormalities?

Well, two causes of absent pancreas were known. Recessive mutations in the Pdx1 or Ptf1a genes had been shown to cause pancreatic agenesis. In these cases each parent had a bad copy of the gene and when the child inherited both bad copies, the pancreas didn’t grow. But for Pdx1 mutations there was usually a family history of diabetes which we didn’t have, and those cases were only missing the pancreas, not the gall bladder and had no problems with the heart or any other organ. For the Ptf1a cases they also had cerebellar agenesis, meaning they were missing a large part of their brain, sadly a fatal condition. Neither of these genes seemed plausible for Finlay.

So, I looked for other cases. I searched out every case I could find in the literature, downloading papers or writing to clinicians in far-flung corners of the world to ask for reprints. I found about 30 cases of pancreatic agenesis. Some dead, some alive. A few with a known cause, most without. One thing I noticed was that about a third of the cases also had cardiac defects. Could they all have the same cause?

The other thing I noticed was that many of the cases were from consanguineous parents, i.e. the parents were related, quite often cousins, as is common in a number of cultures. The relevance of this is that if a mutated copy of a gene exists within a family, there is a far higher chance of two people from that family passing on two mutated copies to their children than if the parents are unrelated.

What struck me was that none of the cases with cardiac defects appeared to have related parents. If these cases were caused by the presence of two mutated copies of the same gene it could be expected that at least some of the cases would be from related parents due to the increased chance of passing on two mutated copies. But the absence of related parents suggested that these cases were caused by a single non-inherited mutation, a mutation present only in the child with the disease, not the parents.

But still, which gene? Sadly, this is about as far as I got. I considered lots of genes and came up with some possibilities, but there are over 20,000 genes in a human cell. A real needle in a haystack.

Fortunately, our DNA, along with Finlay’s had been sent to the Peninsula Medical School in Exeter, England. This is where the experts in monogenic diabetes are. And they had a cohort of samples from children just like Finlay. And they had some amazing pieces of technology. What they did next was they took our DNA and that of another child with no pancreas and cardiac defects and his parents and they sequenced our genes, all of them! They sequenced the genetic code of every single one of the 20,000+ genes in our cells, over 30 million pieces of genetic code from each one of us. Then they filtered through them looking for differences.

Since the mapping of the human genome a decade ago we have had a consensus sequence for what the genetic code of a human is. And each one of us has a slightly different version of this code. When they looked through Finlay’s genes they found over 23,000 differences, single letter changes or small deletions or additions to the code.

As this condition is rare they were expecting the mutations involved to be new to science. So the next thing they did was take out all the differences that had already been found in other humans using huge databases of genetic variation. Then they excluded all the ones that weren’t in coding parts of the genes, i.e. that weren’t involved in the sequence of the gene products or that didn’t change the gene product (protein). Next, because they were looking for a non-inherited mutation they removed any differences that were found in either parent.

After all this they were left with one single mutation.

Once they had done the same with the other child’s DNA they were also left with one single mutation. A different mutation… but in the same gene!

It seemed that one gene was the cause of the disease in both children.

Then they went back to the rest of their pancreatic agenesis cases and sequenced just this single gene. Of the 27 children in their cohort 15 had mutations in this gene, and all but one of those cases had cardiac defects. And in all the cases for which DNA from both parents was available the mutation was not found in either parent: it was a non-inherited mutation.

This Sunday past these clever people at Exeter published their findings online in the journal Nature Genetics adding another gene, GATA6, to the list of causes of monogenic diabetes. Science has an important addition to the understanding of how the pancreas develops.

Like many scientific advances, this finding asks as many questions as it answers; what is the mechanism that causes Finlay’s problems? Why is there so much variation in the symptoms of these children: some have no gall bladder, some have liver problems, some have developmental delay, some are prone to seizures.

Perhaps one day we’ll figure these out. But for now I have my answer.

Despite Everything

Recently a few diabetes bloggers I've been reading have posted pictures and videos of what their kids do despite diabetes, to show that these are just normal kids doing normal things. The pick of them was Reuben's chicken catching.

Now Finlay probably couldn't catch a chicken. Heck, I probably couldn't catch a chicken! But he can catch balls. This video was taken just before bedtime recently so excuse the pump weighing down his PJs!

In this blog I highlight many of the challenges that we have to deal with every day with our son's disease. It would be easy to be negative and focus on the downside all the time. Although there is nothing amazing about this video, the sight of Finlay laughing hysterically shows he is too busy enjoying life to let his condition get him down. So we shouldn't either!

The Coolest Toy in the Playground

As he grows up Finlay will have to deal with many things resulting from his condition, particularly when getting on with other children. Today we got a glimpse of the future, albeit a very cute one!

Another child at his preschool was being collected at the end of the day. He turned to his mummy and said,

" I want one of those" pointing to Finlay's pump.

"Ah, no. You can't get one of those" replied his mum.

"But... Finlay's got one!!...."

I hope their ride home wasn't too bad, with a 3yo tantrum from being denied the 'toy'.

Digesting the Problem

With such a unique disease we have some unique challenges to deal with. For the last week we’ve been struggling with a new problem:

First a little background. In addition to diabetes, not having a pancreas means Finlay can’t produce the enzymes he needs to digest his food. We have to give him his enzymes with each meal. During the day we use Creon, small spheres of enzyme that we mix with his food. At night, when we feed him through his gastrostomy tube straight into his stomach we use Pancrex, a powdered form of enzymes that we dissolve in water and pass through his tube.

This has been working pretty well and has helped us keep his blood sugars steady(ish) and him as healthy as possible.

But now that has all changed. Pancrex, the drug we rely on for him to digest his feeds at night, has been discontinued.

So how can we give him enzymes during the night? The only drug available to us is the Creon that he takes orally during the day.

Option 1: Wake him up and give him some Creon capsules.
This worked the first night. We woke him up and he sleepily did as he was told, opened up and swallowed the enzymes mixed with some apple puree.  The poor wee man didn’t know what was going on. By the next night he had worked out this was going to be a regular occurrence and he wasn’t happy. Tired, angry, crying and in no mood to start eating anything. A ten minute struggle to get him to eventually swallow his food was enough to convince us this was not a long term solution.

Option 2: Pushing the small spheres through his gastrostomy tube.

 Our dietitian found a research paper that suggested we could mix the spheres in thickened water and push them through the tube. The photo shows our result. The spheres just clumped together at the end of the tube. Assuming this was the spheres not getting through the valve at the start of his gastrostomy button we put on an unblocked tube and flushed with water. But the water wouldn’t budge. It turned out some spheres had got through the valve and become blocked in the gastrostomy button, the bit of tubing that sits in his abdomen wall linking the feeding tube to his stomach. I had no option but to change the gastrostomy. Luckily with all the fuss, he had woken up so I took out the button,  got him to place some cloth over the opening to stop his stomach contents spilling out onto the bed (which is quite impressive for a tired, sleepy 3yo), and quickly got his spare gastrostomy out of the box, lubricated it and squeezed it through the hole into his stomach and inflated the balloon with water to hold it in place. Not a successful evening!!

Option 3: Crush the spheres with a mortar and pestle, mix them with water and stick them down the tube.

This sounds simple enough but here we were outdone by the clever people who designed the spheres. The enzymes are contained in these little spheres which are all crammed into a capsule. When the capsule is swallowed it dissolves in the acid of the stomach releasing the spheres. Now this is the clever bit. The spheres have an enteric coating that protects the enzymes through the stomach acid, then when they are passed into the duodenum (into where the pancreas would normally release the enzymes), the alkaline environment dissolves the enteric coating allowing the enzymes to digest the food, mimicking closely what would happen in a normal person.

But when you crush these spheres, the enteric coating becomes separated from the enzymes. Then when you add water and try pushing through the gastrostomy, the coating from hundreds of little spheres all coagulates together and forms a thick blockage in the tube. Failed again!

Some of the enteric coating after I picked it out of the end of tube with a needle

Knowing that the enteric coating dissolves in alkali we unblocked the feeding tube by passing some dissolved baking soda through the tube but this was another frustrating evening.

Option 4: So after many emails between us, the hospital, the pharmacist, and apparently other hospitals in both New Zealand and Australia we think we have a solution. We are crushing the spheres in bicarbonate (baking soda) to dissolve the coating then passing through his tube, flushing with plenty of water. It seems to be working. So far.

Another unique week of unique challenges for a unique child.

Spreading the Word

Two weeks ago I posted this after I sent an email to the Office for Rare Diseases Research in an attempt to get pancreatic agenesis onto their database. Overnight I received this reply from the lovely GARD people in the US:

The Office of Rare Diseases Research (ORDR) forwarded your e-mail regarding pancreatic agenesis to the Genetic and Rare Diseases Information Center (GARD). GARD is operated under the direction of the ORDR and the National Human Genome Research Institute (NHGRI) to help people find useful information about genetic and rare diseases. In your e-mail, you requested that we add pancreatic agenesis to our database to help people find information on this condition.

We appreciate your feedback, and we have added this condition to the ORDR list of rare diseases. We also created a Web page for pancreatic agenesis with information and links to resources. If you have any other suggestions or concerns, please contact us again.
http://rarediseases.info.nih.gov/GARD/Condition/10874/Pancreatic_agenesis.aspx

It's not the greatest scientific leap forward but hopefully by getting the information out there future parents and clinicians will be able to get answers easier than we did.

A Sensitive Little Man

For children born with no pancreas the first weeks and months are incredibly difficult. With each set of parents we ‘meet’ online the same story plays out. Very small babies, failing to thrive with wildly fluctuating blood sugars. Getting these babies to grow is key to their survival but as steady glucose levels are needed for good growth it’s a long, hard struggle to build up these exceptional babies.

 In our case we had the threat of an imminent heart operation added to the desperate need for him to gain weight as the stronger he was the better his chance of surviving surgery. In the end it was 5 months before he had to go under the knife but at the time we didn’t know how stable his heart would be.

The lack of glucose control is hardly surprising. Finlay weighed about 3 pounds when he was born and other children with his condition were similar sizes. Trying to be a substitute pancreas was always going to be difficult.

So I thought I’d go back and try to work out the scale of the task we were trying to overcome. Insulin Sensitivity Factor (ISF) is a measure of how much a unit of insulin will drop a diabetic’s glucose level. For rapid-acting insulin, such as Finlay is on, divide 100 by the total daily dose of insulin for the ISF in mmol/l, or divide 1800 by the total daily dose of insulin for the result in mg/dl. The examples given on this page have ISF values around 45mg/dl. Reading around the internet it seems values up to 200 are not uncommon for children.

So what was Finlay’s in the early days?

When he was first put on a pump he was given the Animas 1200, which at the time gave the smallest basal rate available of 0.025U/hr. During the early days he would be on this rate for most of the time, with the pump suspended when the BGL went below a set level. Over the course of a few days when he was 2-3 weeks old he averaged about 0.5 units per day (sometimes half that!).

So, 1800/0.5 = 3600mg/dl

1 unit of insulin would have dropped his blood glucose 3600 mg/dl !!!!!

Of course, 1 unit of insulin would comfortably have killed him and the ISF was completely irrelevant in those early stages as we were really just reacting to his sugars, chasing numbers, so it was never calculated or even mentioned. Even now we don’t use it. But it does illustrate the difficulties Finlay presented to the medical staff and us. And why his sugars swung so wildly. And what a great job everyone did to keep him healthy and get him to grow.

Now, 3.5 years later his ISF is around 200mg/dl. Still not easy to control but a hell of an improvement.

How Rare?

When people find out about Finlay's condition they often ask us how rare it is.
"How many are there in New Zealand?"
 "Er...him!"

Pancreatic agenesis is clearly a very rare disease. How rare is difficult to say. Children with this condition have neonatal diabetes. The rate for neonatal diabetes is estimated at 1 in every 400,000 to 500,000 live births, and pancreatic agenesis is a rare cause of neonatal diabetes. So putting a figure on it is very hard; 1 in 10 million? 1 in 100 million?

In the US there is the Genetic and Rare Diseases Information Center (GARD) which has a searchable database of thousands of rare diseases. Run by the Office of Rare Disease Research (ORDR), a branch of the NIH, it is the most comprehensive resource for rare disease research. What information do they have on pancreatic agenesis? Nothing. There's a couple of conditions where bits of the pancreas aren't present but nothing for patients missing the entire organ. So there's the answer. My son's condition is too rare for the rare diseases database!!

I started this blog in an attempt to get some information on the web about this condition so that other parents would have better luck getting answers than we did when our son was diagnosed. The GARD database is another potential source of information that any future parents could come across. So, with that in mind, I thought I'd see if I could get pancreatic agenesis onto the database. Earlier today I sent an email to the people at the ORDR: (sorry, a bit heavy on the science!)

Dear ORDR people,

I am the father of a 3 year old son with a rare condition called pancreatic agenesis. While searching your database I was unable to find an entry for this disease. The closest ones appear to be pancreatic beta cell agenesis and agenesis of the dorsal pancreas. Complete agenesis of the pancreas results in a life-threatening phenotype due to the complete loss of both endocrine and exocrine function.

Due to this severity, pancreatic agenesis was until fairly recently a fatal disorder, with patients succumbing during the neonatal period. The first report of long term survival appeared in 1980 but this remained the only case until the early 90s. Since the mid-90s survival has increased, however the total number of cases is very low (I suspect <100). A good review, although a few years old now, was published by Baumeister and colleagues.

There are two known genetic causes of pancreatic agenesis, homozygous (or compound heterozygous in one case) mutations in PDX1, which results in loss of the pancreas with no apparent associated anomalies, and homozygous mutations in PTF1A, which result in loss of pancreas and cerebellar agenesis which is sadly a fatal condition.

A third group exists, which includes my son, where pancreatic agenesis occurs with cardiac defects, for which the genetic etiology has not yet been published. This includes the proband from the Baumeister article referenced above. This group can also have a number of other associated anomalies including gall bladder agenesis, intestinal malrotation and developmental delay although the occurrence of these varies within the group.

With the rarity of this condition I found it very hard to get information following my son's diagnosis. An entry on your database may help future parents in their search for answers.

Many thanks for the work that you do.

Alan

It would be nice to get this condition recognised more widely. It may help parents trying to understand the condition but also might help medical staff diagnose a condition they are unlikely to have encountered previously and may never have heard of. As Finlay's neonatologist said when giving us the diagnosis, "Finlay is not on page 1 of the textbooks". I'll be interested to see if I get a reply.

The things us parents have to do!

This post is probably best not read whilst eating. Sorry!

Any parent would move the earth for their children. Having been in contact with many families of chronically ill children since Finlay was born we’ve seen the enormous lengths that parents will go to make sure their child gets the best care.

And I too hope that I would do anything in my power to care for any of my boys. But that doesn’t mean I’m always going to enjoy it…..

In addition to not having a pancreas and his heart defects, Finlay was also born without a gall bladder. Now amongst all things Finlay this has probably been the smallest issue. In the league table of important organs it languishes somewhere near the bottom just above little toes, appendices and men’s nipples.

But its absence does present problems. Finlay can’t store bile. His liver can produce it but it just flows straight into the gut rather than get stored in the gall bladder. So when Finlay has a meal there is no sudden rush of bile, just a slow trickle down from the liver.

This means he has difficulty breaking down fat. We can supplement the pancreatic enzymes he is missing but lack of bile makes it harder for them to work. And he needs that fat to grow and also to help absorb fat soluble vitamins, A, D, E and K.

So from time to time we need to monitor how well he is absorbing fat. The best way to do this is to look for how much fat hasn’t been absorbed by looking at a faecal sample under the microscope.

So our job as parents is to get the sample. Fortunately he is still in nappies (although we’re working on this) so it’s a little easier to collect but still not particularly enjoyable.

We’d rather not get the sample at the weekend as we’d have to keep it at home until Monday and I don’t really want to have a pot of poo in the fridge between the milk and the yoghurt.

So that leaves weekdays when he is at daycare. He tends to do his poos during the day when he is at daycare (that took a bit of training but well worth it!!) so that led to this morning:

“Er…a bit of a strange request but when Finlay does a poo could you just put it to one side, give me a call and I’ll pop down and collect it?”

Now we ask a lot of his teachers: blood glucose testing, bolusing, special drinks, medications, record keeping; but I thought maybe I was pushing it a bit far with this one. To their credit they didn’t bat an eyelid. What they said once I’d left the room is anyone’s guess.

So later the call came. “You’ve got some poo? I’ll be there straight away” And to the perplexed looks of my work colleagues I put the phone down, jumped on my bike and headed to daycare. They pointed me in the direction of a triple-bagged plastic pile containing one freshly soiled nappy and two rather disgusting minutes later I was back on the bike and pedalling to the hospital lab (very, very carefully. This is not the time to fall off and end up with a soiled backpack).

So now we just wait for the results and hope it’s a long time before we have to do that again.

I haven’t got any pictures for this post, for which I’m sure you’ll be glad!

Bubbleman

Finlay has a gastrostomy, a hole into his stomach through which we can feed him. Through his abdomen he has a 'Mickey' button, a short tube that goes into his stomach with a valve on the outside that sits against his tummy that we can attach a feeding tube whenever he needs feeding. On the stomach side of this button is a small balloon that is inflated with water to secure the tube and stop it falling out.

Tonight I was checking the water in the balloon by drawing it out with a syringe and replacing with some fresh water. Cameron, 8yo, was watching and starting asking what I was doing. Although he's seen the tube in daily use I can't remember if we've ever explained exactly how it works. So I explained about the ballon inside his stomach that I was inflating with the water.

"Cool!"

I suppose for an 8yo boy that would sound pretty cool. TBH it still quite amazes me.

Then Cameron turns to Finlay and says "Hey, Bubbleman...." I probably shouldn't approve but then Finlay found it funny and the boys started gently teasing him about being Bubbleman which had him in hysterics. Great to see all the boys getting on well and having fun with Finlay's condition.

Night night, Bubbleman!

Another not-so-normal day

Finlay's condition brings up scenarios that just don't happen to other parents. Sometimes funny, sometimes not. A couple of examples in the last few days.

I was dropping the brothers off at school before taking Finlay to preschool. I was getting Finlay out of the child seat on the back of my bike when all of a sudden he starts screaming. I look down and see the pump lying in the seat with the tubing and the site. Somehow his pump got caught in the seat and I've pulled the site out of his thigh as I've taken him out the seat.

I notice a bit of blood in the cannula of the site then look down at Finlay's leg and see a patch of red coming through his pants. We must have caught a little blood vessel as the blood is oozing down his leg. So there I am outside the school gates with a screaming toddler, pants round his ankles (remember it's winter in NZ now and it's freezing in the morning), a stream of blood down his leg and me desperately clawing through my bag for a tissue to stem the bleeding.

A couple of the mum's stop to ask if they can help. "Oh no. Thanks but we're fine." WHAT?? How is this fine? How is this normal? What am I saying??

But the reality is we deal with all sorts of mishaps like this all the time. This is our normal. I knew that it was just a needle hole and it would stop bleeding in a minute. I knew that Finlay was just crying from the initial pain of the site being ripped out. He isn't fazed by blood. He sees his own many times a day. In a minute he would be happily running around after his brothers. To be honest, I was more concerned about the blood on his pants. More frustrated that I was going to have to go back home and get another site. Late for work again!

Are my priorities all wrong there? Probably. But that's our reality. Finlay was great. Recovered in a flash and didn't make a sound as I put the new site in. What a star for a three-year-old.

Then, on a lighter note....

At preschool we take in bottles of a special prescription drink for him to have at mealtimes, packed with goodies to try and beef him up a bit. And with every meal he is given replacement enzymes that his pancreas would have produced had he had one. So every so often the preschool remind us to bring some more in.

So a few days ago alongside the other messages, "more nappies for Johnny", "spare clothes for Olivia" is "Finlay - drink and drugs"!

I hope there were no inspectors from the education department around!

The Long Haul

I haven't posted for a while but with good reason. We took a 4 week holiday, the first time we've been overseas together for 6 years. Now Finlay has flown before but only hour long flights to and from Auckland for his heart op and when he was born.


The trouble with New Zealand is when you want to go to another country it's always a long journey. And with Finlay there's the diabetes to think about: the time zones, the feeding regime, the insulin.....


So rather than try a quick jump across to Australia or one of the South Pacific islands we go all out with 30+ hours, 12,000 miles, 4 flights and 12 time zones. NZ to UK. How would we manage this? Not even Dr Google could help out here. Plenty on single flights and a few time zones but nothing about multiple flights halfway round the globe.


So for anyone else thinking about it here's what we did.


Plenty of planning ahead: Insurance took a while but I'll save that for another post. Letter (+ copies) from the endo so we could get the pump, syringes, medication past security. Letters (+copies) from the dietitian so we could get his feeding pump and lots of bottles of Nutrini feed on with us and 6 cases of bottles in the hold. Organise to pick up an extra month's supplies from the hospital so we didn't run out half way through the holiday. Get extra prescriptions of pancreatic enzymes (the pharmacy had me sign a waiver as the computer flagged that I'd only just picked up a previous script. I have to say if I was going to OD on something I doubt I'd choose pancreatic enzymes and I don't think their street value would let me retire early).


Then there's packing his bag for the flight.First of all, a bag isn't going to do it. This was going to take a small suitcase. Enough bottles of Nutrini to get him through 4 flights, plus an extra couple in case of delays, then an extra couple in case of spillages. Feeding pump (too big for suitcase); bottle for feeding pump; 2 feeding sets for 2 days travel plus extra one just in case; gastrostomy tube; spare gastrostomy tube; spare gastrostomy button; lubricant for inserting button; infusion site; alcohol wipes; pimafucort tube for old insertion site; plaster for stopping pimafucort getting all over clothes; spare insulin vial; daytime pancreatic enzymes; nighttime pancreatic enzymes; apple puree for feeding the daytime enzymes; 10ml syringes for nighttime enzymes, 50ml syringes for feed; glucometer; spare battery for glucometer; spare battery for insulin pump; extra box of test strips; hypo gels; extra hypo gels; sod it, just throw a box of gels in!; glucagon, extra glucagon (unlikely to need glucagon at all but if we took one then needed it in the departure lounge in NZ then we'd have 30+ hours without any).


We just about managed to cram it into a small suitcase. Security were very different in different countries. NZ and Australia were pretty laid back about it, Dubai were fairly indifferent, Bangkok were quite strict and had a good rummage around and at London they made me open one of the bottles of Nutrini and drink some (horrible stuff!! I thought my grimacing face might lead to a full body search) then they swabbed his insulin pump for explosives. But all done in a friendly manner.


So what about the insulin regime? First, we disconnected the pump during each take off and landing. Our diabetes nurse sent us a powerpoint presentation about insulin pumps on flights and how the change in pressure can lead to extra insulin being given as the pump is a closed system where the pressure will remain high whereas the cabin pressure would drop leading to extra insulin being delivered because of this pressure difference. With Finlay being so small an unexpected dose like this could cause problems. This worked well and we only forgot to disconnect once. Oops!


Finlay and Ewan enjoying the flight

As for the rest of the time we didn't really know how he'd react to the time changes, the excitement of the trip etc. We had one long night on the way out as we flew west, then two short nights on the return as we flew east. We had no idea what that was going to do to his numbers. Vicky did a chart with all the flights on and planned feeding times then five rows each with the time at one airport, hour by hour. All very organised. We wanted to be fairly conservative with the insulin. So we dropped the basal rates to the lowest setting and gave larger boluses with meals.


And it worked really well. His figures were generally in single figures or just a bit higher. Probably better than normal. We should fly more often! We only had one hypo episode when the plane was a little late arriving in Australia on the way back which messed our timings about a bit. I thought he'd be OK until we got into the terminal but I tested him as we were taxiing and he was LO. No symptoms!! But a quick tube of gel and a feed on the plane as the cleaners were trying to work around us and all was well. By the way, a great way to get through security quickly is to have your kid have a hypo when you land then they whisk you straight past the queues and rush you right through to your departure gate. I think they were trying to get rid of us before anything serious happened!


All in all it went much more smoothly than we had hoped. We were really worried that we'd be awake the entire journey testing him every half hour but it turned out really well. All three kids behaved themselves. No meltdowns on board. Not from our kids anyway! Didn't get much sleep but that would be asking too much.


It gives us real confidence about doing more in the future. A bit of planning and staying calm and all should be ok.


And the holiday was great!


Finlay inspecting the cannons at Edinburgh Castle

Hooray for the Wiggles!!

Before we first used the infusion sites we were told to go home and practice on each other. So we sat down after the boys were in bed and nervously prepared to insert a site. Vicky practised on me, and I practised on....er ....me! It was quite nerve-wracking, for the person on both ends of the needle! It's no little pin-prick: that's a pretty long needle she was wielding. Not a particularly nice experience.

So imagine what it must be like for a toddler or baby on the sharp end of the needle. Little or no knowledge of diabetes or why your parents, the two people you most trust in the world, are inflicting this pain on you.


In those early weeks and months, when the needle was just about the whole length of his thigh muscle, although it was hard for us to insert the site, feeling just so wrong to be doing that, he at least didn't put up a fight. He barely registered it sometimes. All his fight was on staying alive. His battle was bigger than a stupid needle.


But as he grew he started to make his feelings known. He learnt the routine. If both of us appeared at his change mat he knew what was in store for him. One to hold his leg bent to bunch enough muscle to aim the needle at (there was no fat on him, none) and one to wield the needle.


We tried to alter the routine to relax him but, though Finlay may be many things, he is not stupid. He always knew when it was time to change the site. And the stronger he got the harder it was getting for us.


But salvation came from the Wiggles. They are a four man children's entertainment phenomenon. I don't know how big they are in other parts of the world but if you're a preschooler in New Zealand or Australia these are the guys!


A year or two back we were having problems with recurrent skin infections at sites. The solution was to use some antibiotic cream after removing the site and stick a plaster over the cream to stop it going everywhere. It worked. No infection problem now. Recently we were scrambling around for a plaster after a site change and came across a Wiggles plaster. We popped it on and Finlay was delighted.


Now everytime we get ready for a site change, rather than the usual screams and burying his head in his teddy bear, he just looks at us sternly and enquires "Wiggles?". We show him the new Wiggles plaster and all is right with the world. All it takes is Dorothy the Dinosaur or Wags the dog to be slapped on to his thigh and site changes are a whole new experience.


Thank you Wiggles!

Wags and Dorothy keep happy Finlay infection-free

The Mistaken Professor

One of the common gripes amongst the diabetes community is the constant misconceptions. These range from the ignorant "you must have fed your child too much sugar" type of comment from the know-it-all mother at school to the well-meaning but exasperating "my friend's cousin's postman's gran's diabetes was cured by meditation and bathing in yak wee" type of comment.

It's frustrating when these come from friends, more so when they're from relatives, and disappointing when they come from ill-informed journalists in newspapers or on TV. And sadly sometimes even the professionals get it wrong:

While googling Finlay's condition I read a piece written by a professor of gastroenterology about diseases of the pancreas. It was a short, informative piece that covered conditions like cystic fibrosis and other inherited disorders. At the end he included this little gem, "In extremely unusual circumstances a child may be born without any pancreas.......This problem is not compatible with life"

Now Finlay clearly hasn't read this particular piece as, thanks to various medications and a lack of sleep on our part, he doesn't seem to be having any compatibility issues with life.

Now imagine you were a parent of a newborn baby that was diagnosed with an absent pancreas. The first thing you do (once you pick yourself off the floor and pull yourself together) is to hit the internet to find out anything you can. And with a rare disease like this there's not much out there. So it's not that hard to come across the article above. I did. I'd hate for anyone in the position we were in a few years ago to come across that kind of comment.

I think this is probably an old piece that just gets regurgitated from time to time but I think when experts give their names to articles on the internet there is a duty to ensure they are correct and up to date.

This professor has an impressive track record, particularly researching cystic fibrosis so I have huge respect for him but I do want him to correct the piece. So here's the letter I sent in March. It's a bit heavy on the science but I thought that might appeal to his academic nature. So far, no reply. I've removed the name and a few identifiers as it's perfectly possible that his PA deleted the mail and he's never read it so I don't want a witch hunt. But it would be nice to get a reply....

Dear Professor,

I recently came across a short piece you provided for the XXXXXXXXXXXX entitled "Inherited Pancreatic Disorders of Childhood". At the end of the article you state that being born without a pancreas is not compatible with life. I note that the article was posted on April 8th 2010. Coincidentally this was my son's 2nd birthday. He was born without a pancreas.

While your assertion was true at one point there are now a growing number of children surviving with this condition. The exocrine insufficiency can be treated with enzymes in the same way that you treat your CF patients while insulin therapy can overcome the lack of endocrine function. While treatment, particularly in the initial stages is far from easy, technological advances such as insulin pump therapy allow for better outcomes for these children.

The earliest record of long-term survival following pancreatic agenesis dates back 30 years (Howard et al, 1980, J. Pediatr. 97: 786-9) and while that case may be considered an outlier, the prospect for children born without a pancreas has improved greatly since the 1990s. I conservatively estimate that the number of surviving cases runs into the teens, and possibly higher. Personally I am in electronic contact with the parents of 4 others.

Currently, mutations in two genes have been shown to cause pancreatic agenesis. PDX1 was first linked to the condition in 1997 (Stoffers et al, 1997, Nature Genetics 15: 106-10). Homozygous, or compound heterozygous, mutation of this gene has been found in at least 3 cases, all of whom survived the neonatal period, and one of whom I know is continuing to thrive into his preschool years.

PTF1A homozygous mutations have been found in children from two distinct consanguineous families. Sadly these cases have also presented with cerebellar agenesis and they have all , indeed, proved incompatible with life (Hoveyda et al, 1999, J Med Genet 36: 700–704; Sellick et al, 2003, Diabetes 52: 2636-38; Sellick et al, 2004, Nature Genetics 36: 1301-5).

There is also a group, including my son, for which no causal mutation has been found. These children can have a range of associated conditions including gall bladder agenesis, cardiac defects, duodenal malrotation and others. This group includes a number of surviving children.

I raise this issue not as the pedantic ramblings of an irate father but out of concern for future parents of these children. When a child is born with a serious medical condition one of the first things most parents do nowadays is to enter the condition into an internet search engine. This is particularly true when the child has a very rare condition where the doctors treating their child may not have the answers they need. At this stage of their journey the parents are likely to be emotionally and physically drained and the last thing they need is to find a website with outdated or incorrect information telling them that their child is going to die.

I hope that for future articles you may write, and previous ones if you are able to edit, you could say that although serious, being born without a pancreas can, in most cases, now be treated with insulin therapy and enzyme supplements.

May I finally thank you for your research. Despite the reason for my email, as the parent of a child with pancreatic exocrine insufficiency who has benefited from research such as yours into diseases such as CF, I appreciate the work that you and your colleagues do.

With kind regards

Giving Back

Since Finlay came along we have been really lucky to have had help from lots of different individuals and charities. There's a list at the bottom of the blog - click away, they're all lovely people!

Since Finlay's first ultrasound diagnosis one charity, @Heart, has been with us all the way. They've been a huge support, emotionally and financially. They helped get me to Auckland (an hour's flight away on a different island) for the birth and later for his open heart surgery. They've been there to support us both at home and in hospital. From day one we always wanted to try to give something back. We just never imagined the chance would come so soon and in such a way....

One of our friends is a photographer, a really good one, take a look. When Finlay was 5 months old and we were about to fly him up to Auckland for his heart surgery we asked him to take some photos. Partly because we knew that would be the last chance to get photos without a scar, and partly because.....well, it might just be the last chance.

And the results were stunning:

A few months later, @Heart sent round an email about a photo competition being run by Canon (the people that make the cameras and printers). The winning picture would win $25,000 for their charity. So Vicky got on the phone to our friend and asked him to enter one of the photos. Being the great bloke that he is, he didn't hesitate in saying yes. He knew without asking which photo he should enter. Of all the fantastic pics there was one standout.

Over the next couple of months we tried to get as many friends, relatives and anyone else to vote for his picture on the Canon website. It didn't get the most votes but it got enough for the judges to take notice. Out of over 800, beautiful, stunning, inventive photos from around the country, all with heart-rending stories behind them, his was one of the final 5 to go before the judging panel, which included one of the country's top photographers and even the Prime Minister's wife.

An exciting, nervous few days were finally broken when our friend got the phonecall from Canon that he had won and our charity was getting $25,000. So many more families would be helped in the way we were thanks to our friend and Finlay. But for us the picture is worth a million dollars:

The ever present cellphone

Finlay has his pump, I have my cellphone. It goes everywhere with me: my remote link to F. I can't imagine what parents of diabetic children did before cellphones.

Everyone I work with is used to the calls: "he's high", "he's low", "he's pulled his site out", "another kid pulled his site out".

And they understand that it doesn't get turned off, ever. Meetings, lunches, visiting dignitaries; if preschool calls it gets answered. At least I have a fairly unobtrusive conventional ringtone. It's not like I shatter the peace of the workplace with 8 bars of the latest hip hop hit, or tinny Beethoven, or some irritating 80s song that keeps going round in your head all day until you work out who sang the original.

I try not to be too disruptive and if needed a quick explanation is accepted without question, but I realise it can be annoying.

So yesterday the phone rings and I see it's preschool. But this time there's no numbers, no infusion set crisis. For once it was just a normal call. Something they could have been asking any parent. It was great. No quick-fire calculations needed, no apology as I slipped out for an hour to inject my son.

End the call and back to the meeting, "Sorry, wasn't important after all" Oops!

Take a Bow, Boys

I set this blog up to be about Finlay. But it's more than that. It has to be. Although he's the one at the sharp end, who'll have to deal with everything that this disease will throw at him, the whole family are affected.

So I need to introduce you to his big brothers.


It would be easy to exclude them from the blog but they have lived with diabetes as long as we have. At an age when most kids associate hearts with the lovehearts on a greetings card, they can recognise a cardiology diagram from a medical textbook. They have seen their brother's seizures, watched the scars heal from his surgeries. They know how to use a glucometer, where the glucose gels are kept, that when I tell them to get Mummy quickly they need to do it quickly. That they do this without complaint makes me so proud.


As the eldest, Cameron is the one the others look up to. Recently, our city has been struck by a series of earthquakes, one in February killing 181 people. With each big aftershock that shakes the house the younger ones look to him. His coolness and calmness in the face of nature's wrath is incredible in an 8yo. The other two see him looking OK and they stop crying, or get a hug from him to calm them down. At when it comes to Finlay he is just as good. Encouragement to drink his milk, a cuddle to ease the pain of a site injection. Now when Finlay is upset at a site change or at the hospital he cries for his brother.


Ewan is the livewire of the family. Despite Finlay's trials Ewan is the one that's going to cause me to lose my hair as he grows up. He and Finlay are often to be found plotting. With all Finlay's problems we were worried that there would be jealousy between the brothers but not a bit. They are the best of friends. They still argue, they're brothers! But we are so pleased with how they get on.

And this is where the guilt sets in.

They way they have dealt with Finlay and everything associated with him has been incredible. They deserve so much from life. And we constantly fail them. Diabetes and feeding regimes take up the majority of our time. Time we should be devoting to his brothers. We should play with them more, read to them more, teach them more, listen to them more. But too often we run out of time, or if we get the time, are just too damn tired. It's not how it should be, but sadly how it is. All we can do is try to give them as much time as we can. They are good boys and are growing up well. In spite of life's trials they will do well.

We are planning on heading off for a few days for a well deserved break. Holidays with a diabetic child always take a bit more planning than usual. Hopefully we'll manage better than we did last time.....

The week before Christmas we packed the tents and headed off to Abel Tasman, at the northern tip of the South Island of New Zealand, for a week in the sun. We piled the boys in the cars and headed north stopping in Kaikoura for lunch. Now Finlay doesn't travel light. There are a few extras we need to pack for him. Quite a few. What with his insulin pump, feeding pump, infusion sites, feeding sets, insulin, daytime digestive enzymes, night-time digestive enzymes, gastrostomy tube, glucose meter, test strips, spare test strips, alcohol wipes, glucagon, spare glucagon, syringes (various), plasters, antibiotic cream, spare cartridges, meter batteries, pump batteries, pump power cord, spare gastrostomy tube, lancets, back-up gastrostomy button, bottles, mixing pots, hypogels, spare hypogels, back-up hypogels, emergency back-up hypogels...it's a wonder we ever manage to leave the house.

So perhaps we shouldn't have been too surprised to get to lunch and discover we hadn't brought any of his milk! For a diabetic child with a highly regimented feeding plan requiring a high-carb prescription-only milk formula five times a day to delicately balance his blood sugars between damaging highs and potentially lethal, seizure-inducing lows this was possibly the worst thing, other than Finlay himself, that we could have left behind.

So we hastily booked a campsite in Kaikoura, and while Vicky, her sister and the boys enjoyed the delights of the spa pool, I bought the most sickly, sugary milk drink I could find, made sure I had plenty of hypogels (just as well we packed the emergency back-up ones!) and turned the car around heading back for Christchurch.
What should have been a lovely spot for lunch!


But it was worth it in the end!!

Easily Freaked!

Sometimes it's hard to remember he is just a normal kid.

Recently F has had a few lows in the evening. Something has changed. He's growing, or not growing or doing something different. He is normally fed through his tube at 9pm so we like his sugars to be at the low end of his range by then. But recently he has started dipping just before we check him. Twice recently we've had to get the dreaded orange box out the fridge. Sugars down in the low 1s (about 20-30 mg/dl) accompanied by seizures.

In the last week we've had a CGM put on him for a few days so we can see what is going on but that's for another post.

Anyway, fair to say we've been a bit on edge in the evenings recently.
So a few nights ago when F wakes up crying we're straight into panic mode. Vicky runs in and grabs him. He's screaming, hands shaking, not yet in seizure. Vicky grabs the meter and fires the lancet into his toe. He is still screaming, looking straight at me, almost through me with that fixed stare that just says "help me". Definitely hypo, no doubt.
OK, glucose gel or run for the box in the fridge? There's a gel on the table...grab it.... tear it open...try to get F to take it....refuses, more screaming.... Of course he refused it. He's hypo, can't think straight. Have to get it down him somehow....or run to the fridge? That's it....glucagon before he seizures.....

Vicky stops me. "Er, 8.4" (about 150)

"What??? Let me test him" 9.3

Oh....F calms down in mum's arms. Just a bad dream. And when we think about it, it's exactly how his brother's were when they were his age and had a nightmare. Shaking, staring eyes, screaming.

So we settle him down and turn out the light. I still head for the fridge, but for the chilled green bottle rather than the orange box!! A far more pleasant medicine!

New Threads

As if his health problems weren't enough, Finlay has to deal with being the youngest of three boys. When it comes to clothes he gets the worn, stretched, threadbare hand-downs from his brothers. Sadly, some of them were getting a but beyond wearable so last week we took him shopping.

Although he has just turned 3 we weren't expecting him to be in 3 year old clothes. He is still small for his age. So we picked the 24 months jeans and gave them a try. But no, so onto the 12-18 month ones. OK for length but still ended up down round his knees when he stood up. Thanks for adjustable waistbands! Pulling the elastic tighter and tighter we managed to get them looking pretty respectable.

We had a clinic at the hospital today and the news is all good. His weight is increasing well. It would be easy to get frustrated that he can only fit into clothes for children half his age but that would be to forget where he has come from.

And for all his lack of size, he gives as good as he gets when it comes to his brothers. He's got all the spirit (and more than enough volume!) to get his way. He's going to be alright.

How Many Dinosaurs To Carry An Insulin Pump?

Finlay has always been a bit difficult to dress. He is still very small for his age and has never had the puppy fat you expect in a young child. When he first left hospital at 2 months old we found it really hard to get anything to fit him. Luckily we found the Pumpkin Patch range of clothes for teddy bears fitted perfectly!!

Modelling the teddy bear range


Now the main problem is keeping his pants up. All those that are long enough for him seem to be made for kids twice as fat. Then we hook his pump onto the belt and five minutes later he's wearing them round his ankles. I realise that the fashion of today might be to wear your pants ridiculously low, and maybe the local teenagers think he's the coolest 3yo in the neighbourhood but it's just plain wrong.

So thanks to one of the parents at his brothers' school we now have a cool set of braces...with dinosaurs on!! He seems to like them. Not sure what he'll think when he looks back in a few years but it's saving our blushes for just now.

How many dinosaurs does it take to hold up an insulin pump?

To Cellphones and Good Friends

It's fair to say that the arrival of Finlay rather curtailed our social life. Not that we were painting the town red to all hours every night but the occasional evening out with friends or dinner at a restaurant helped keep our sanity.

But that ceased following the birth. Initially it simply wasn't something we thought about. We were so busy coming to terms with our new reality, looking after Finlay, caring for our other boys, working and, if we had the time, looking after ourselves that any idea of socialising was a non-starter.

But as time passed and Finlay became more stable we yearned for a return to some sort of normality. At first we would go out one at a time: a night with the girls for Vicky, a work night out for me. But how could we leave Finlay so we could both go out? How could we get a babysitter able to do BGL checks, set up tube feeds, mix and dose enzymes, treat hypos and, eek, use glucagon???

Luckily we know a few current or former nurses who were glad to let us out for the evening. I'm so glad we had these people around as they gave us the confidence to leave Finlay in someone else's hands for a few hours. Without someone with some medical knowledge to be our first babysitters I doubt we'd ever have had the courage to progress to other friends.

We're also lucky to have had a sick child in the age of cellphones. Halfway through dinner we'll get a message telling us what his BGL was, then we can relax. I don't know how parents of diabetics ever went out before cellphones!

Now we have non-medically trained friends babysitting. It's a lot for them to take on and we would only ask people who were relaxed about it. But it's such a huge help. The cellphone sits on the table. I still get a bit nervous until the text comes through. But that'll ease eventually...probably.

One of the diabetes bloggers I read recently posted about the reasons she blogs. So I thought I'd explain one of the main reasons I am blogging.

When you have a child born with a rare disorder, or with symptoms that the doctors just can't fathom, one of the overwhelming feelings is loneliness: a desperate need to know what lies ahead, what the doctors can't tell you.

Finding someone who has been through it all is a massive step forward, the lifting of a huge burden. For us, the doctor in charge of Finlay's case giving us a paper about a German girl that had survived gave us the hope we so desperately needed.

Later, through the internet our story was able to do the same for another family. This article appeared in an Australian magazine about a year and a half ago.

If, in the future, a desperate parent sticks 'pancreatic agenesis' or 'born without a pancreas' into Google, hopefully they'll come across this site and will get some of the answers they need.

So, if you're reading this thanks for coming to the site. The more hits, the greater the chance we can be found through the search engines.

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