Finlay the Athlete

Over the past five years our family has been helped by a huge range of individuals and groups. In time we hope to be able to give back to as many of these as possible. Recently an opportunity arose to help one of these charities. Here’s the story of how it went:

I like to run. I’m never going to break records but it keeps me fit, gets me out of the house and, since Finlay has been around has been a great source of stress-reliefrecords but it keeps me fit, gets me out of the house and, since Finlay has been around has been a great : my me time. So every year I run in the local marathon. And each year, while I’ve been pounding the local streets, my elder two sons have run in the 3K kids’ fun run. And every year Finlay has waited at the finish line to watch his brothers finish and get their medals.

But this year he turned 5 years old and it was finally his turn. He would get to line up on the start line alongside his brothers and hundreds of other local children.

Each year the marathon adopts a charity which runners can raise money for. By chance this year it was Ronald McDonald House. During Finlay’s short life he has spent many weeks in hospital far from home. While these have been difficult times for us they would have been so, so much harder without Ronald McDonald House. Having somewhere to stay right next to the hospital rather than in a cheap, ill-equipped motel a bus ride away has been invaluable. To have a place that is built and run solely for the purpose of helping families of hospitalised children just lifts a huge amount of stress from our shoulders at a time when we need it the most. We owe them a debt we can never repay, but this year’s marathon gave us the chance to give a little back.

I didn’t feel I could ask for sponsorship for running a marathon as I’ve run them before and, although each one is a huge challenge, I think to ask people to dip into their pockets I should be pushing beyond my limits to justify the sponsorship. However, although my efforts weren’t worthy of asking people to give, Finlay’s were. After all he has gone through in his short life and everything he endures on a daily basis just getting to the starting line was a victory of immense proportions.

So we set up a sponsorship page for Finlay and soon had donations stacking up from friends and family. Social media is great for this kind of endeavour as word spreads quickly around the world from friend to friend. But then things got bigger than we imagined.

Ronald McDonald House, with our permission, passed his story to a journalist from the local newspaper. Each year they have extensive coverage of the marathon the day after the race with results and reports. And they usually have a feel-good story to accompany it as there is usually a plethora of people raising money for countless great charities, running in memory of relatives or in support of friends. This year, out of all the fantastic personal stories they chose Finlay to be their main piece in the print version with a nice accompanying online version.

And there was an amazing response with complete strangers donating money and even a lady from a city in another part of the country tracking us down and phoning us to tell my wife how wonderful she was! Weeks later I am still getting people at work telling me they saw the story.

The race itself was great. We didn’t know quite how his sugar levels would react so we turned down the rate on his insulin pump before the race and gave him a much smaller bolus than usual with his feed beforehand. It turned out we over-compensated as he ran quite high throughout the race and afterwards. But rather high than low and we got him back in range later in the afternoon.

Finlay sprints toward the finishing line

He ran really well with Mum by his side, although he slowed a little half-way round as his heart struggled to get the oxygen round his body. Day to day it’s easy to forget that his heart still hasn’t been fixed properly and I dread to think what his oxygen saturation goes down to when he exerts himself – the cardiologists assure us he will stop long before his heart does and so far that’s been the case!

Thanks to the lady from the charity that offered to hold Vicky’s bag while she was running not realising that its contents were half pharmacy, half sweet shop as it contained any emergency provisions Finlay might have needed. I’m glad to report the bag was never opened!

Also thanks to the marathon runner that passed by who thought the backpack with his insulin pump was a miniature Camelbak! That’s the second time that’s happened although he was just finishing a 42K race so can probably rightly claim fatigue.

All in all it was a great day, he raised over $1200 and, thanks to the local paper, we have a great souvenir to go along with his first finisher’s medal.

The boys proudly display their medals

Progress

I can hardly believe it’s been over six months since I last posted here. I’m glad to report that the dearth of posting is mainly due to there being no major dramas recently. Finlay has just been getting on with life and doing what 4 year olds are supposed to do.

So this is just an overdue update for any of you that check in from time to time to see how Finlay is doing.

We’ve been struggling for a while with weight or, more precisely, lack of it. The different aspects of his disease seemed to be conspiring against us to stop him gaining the pounds: we find a solution to get round one issue just to find any positive effects are nullified by one of his other issues.

So last year we made a couple of changes to his feeding and drug regimens and at last he is steadily gaining weight. Nothing earth-shattering but real, sustained growth. He has caught up with the bottom of the growth charts again, weighing in around the 3^rd percentile. Sitting here at 6’2” and just a few burgers short of 200 pounds it still amazes me that my son can be so small. But he’s never going to be a heavyweight and progress is progress. It’s really pleasing that our persistence is paying off.

So as I said in the first paragraph he is just doing what 4 year olds do. And that’s wonderful to be able to write! For the last six months or so, through the long, hot southern hemisphere summer, it has been possible to put everything about Finlay’s condition to the background. Never out of the picture completely (still multiple BG checks, quick calculations, boluses, medications: the never–ending grind of the chronic illness) but not the all-encompassing disease crisis management of the early years. We are now learning to view him as a growing, developing young boy. To look to his future with hope and excitement rather than trepidation.

And this year will see him take great strides towards that future. Our little boy is about to start school!!

 

The Finlay Clause

As parents we are the best advocates for our children. When a child has a rare disease that advocacy becomes all the more important. The nature of our children means that from time to time situations will arise where our children are not catered for.

This is what happened back in February when Pharmac, the government agency in charge of funding medicines and medical devices in New Zealand, announced plans to fund insulin pumps. This was a welcomed move as funding for insulin pumps until now has been on a piecemeal basis by different regional health boards  that has amounted to a bit of a lottery.

 However, the criteria to get funding presented a problem for us. Only type 1s would be funded and there were strict criteria based on maintaining HbA1c levels lower than pre-pump levels. As Finlay is not type 1 he would not qualify and as he was put on a pump only a few days after birth there is no pre-pump data to compare against.

So I found myself firing off a detailed email pointing out that their proposal would leave some diabetics without the care they need. Having never done anything like this before I had no idea what would happen. But earlier this month they published their revised policy and it seems they listened!

In what one of the diabetes nurses jokingly called the 'Finlay Clause' the revised decision now contains criteria for those with permanent neonatal diabetes to get insulin pumps and consumables. There is no requirement for these individuals to maintain specific HbA1c targets, only that a multidisciplinary team regards multiple daily injection regime as inappropriate and they consider the patient continues to benefit from the insulin pump. This is excellent news as it addresses my main concerns.

I’m sure their decision was not solely due to my correspondence, and I am aware that others had mentioned Finlay in their submissions, but I am delighted with my first foray into government policy consultation. In a separate document where they outline their responses to people’s submissions they specifically mention pancreatic agenesis in the section on neonatal diabetes, possibly the first mention of the disease in government policy documents anywhere in the world.

In my submission I mentioned three groups of patients: neonatal diabetics, those who have had their pancreases removed surgically, and Cystic Fibrosis patients who have developed diabetes as examples of non-type 1 diabetics that would be affected by their decision. I’m pleased to say that the first two groups are both now covered and CF patients may be included following a cost benefit analysis that is being carried out. In my mind it is a no-brainer. Hopefully Pharmac will agree.

So I am really very pleased with the outcome. Some of their other decisions around glucose test strips I don’t agree with and the strict criteria for type 1s to get insulin pumps may mean many will miss out but I am glad that with respect to my concerns they have listened.

The Amazing Pancreas

The pancreas is an amazing organ. It’s the unsung hero of the body. The body is rather like a team with each organ having its own specialised job to do: the heart pumps blood round the body, the lungs oxygenate the blood. But the pancreas is the utility player of the body, sitting quietly out of sight behind the big name organs, the stomach and liver. But there it carries out multiple functions key to the body’s survival. It’s not a one-trick-pony organ like some of its more illustrious teammates but a multi-skilled player deserving of far more credit than it receives.

The pancreas is responsible for supply and control of multiple hormones. Not just the all-important insulin but its partner in crime glucagon, as well as somatostatin and pancreatic polypeptide. On top of all this the pancreas produces many enzymes that help the body digest food: lipase, amylase, trypsinogen, chymotrypsinogen, elastase and carboxypeptidase. An impressive list for such an underestimated organ.

Of course all this makes living without a pancreas quite a challenge.

We have tried our best to replicate all the functions that nature perfected long ago but our attempts at being a pseudopancreas appear amateurish when compared to such an impressive organ.

The biochemists have given us the enzymes and drugs to help Finlay survive, modern medical technology has given us insulin pumps to finely tune our glucose control and the surgeons have aided us with 24-hour feeding access through a feeding tube. But it is one of the pancreases lesser-known functions that has left us struggling recently.

One of Finlay’s issues is his size. He is small. At 4 years old we can get him in 2 year old pants if we pull the elastic waistband really tight. Unfortunately fattening him up has not been easy. He grew reasonably well in the first couple of years but he has hardly put on any weight in the last year. And the problem seems to be an inability to digest and absorb his food. We can give him all the food and nutritional drink supplements we can shove in him. We can feed him through a tube when he’s asleep and we can give him lots of enzymes to replace the ones he can’t produce. But all this isn’t helping him grow. And it’s a clever little property of the pancreas that is to blame.

When food exits the stomach it is very acidic due to the gastric acid in the stomach. This creates a problem as the enzymes released by the pancreas to digest the food are destroyed by strong acid. So the pancreas releases bicarbonate (the same as baking soda) along with the enzymes to neutralise the acidic food and allow the enzymes to work.

So for our attempts at being a pseudopancreas we feed him some enzymes in tiny spheres that have a special coating that protects the enzymes through the acid stomach but which dissolve, releasing the enzymes, once they are in the less acidic duodenum. Unfortunately because he has no pancreas he has no bicarbonate released into his gut so the duodenum stays acidic. That means the little spheres carry on through the gut until eventually the environment is suitable for the coating to dissolve but by then most of the benefit has been lost and not enough food gets digested.

So what is the answer? With the rarity of Finlay’s condition there are no treatment guidelines, no established protocols backed by years of research and experience. We work on a combination of educated guesswork and…. well, complete guesswork. One strategy is to look at conditions with similar problems. In this case cystic fibrosis is a good model for what Finlay is dealing with. In CF the secretions from the pancreas can become blocked as the organs get covered in the thick gunk that typifies the disease. For many CF patients, reducing the stomach acid works well to reduce the acid environment in the duodenum and let the enzymes work.

So we have started a course of a proton pump inhibitor, a class of drug that reduces the amount of acid the stomach produces. Hopefully that will help reduce the acidity of the whole digestive tract and get more food being digested and absorbed.

Time will tell if this helps him put weight on but if it does it will be one more small victory in our efforts to replicate this amazing organ.

Living Up To His Name

When we named our children we just went with names we liked. Some people have names that run through the family. Others have strong opinions about what their children should be called. Some reflect the parent's aspirations, their religion or cultural background, others the parent's taste in music or TV programme. For us we just wanted names we liked that wouldn’t cause embarrassment as the children grew. There is a Celtic theme running through our boys’ names but that is coincidental rather than deliberate.

Fortunately there was plenty of middle ground between Vicky and myself that we didn’t spend months vetoing each others choices.  

One thing we didn’t really consider was the meaning of each name. But with hindsight it would have been hard to come up with a more fitting name than Finlay. Recently, following a discussion about names following the birth of a friend’s child, I found myself looking up names on the internet. Finlay, “fair-haired courageous one”.

I can’t think of a more apt name. This last week has seen our fair-headed warrior more than living up to his name. He has shrugged off surgery, a collapsed lung and an infection with a smile on his face and is now safely back home telling all his preschool friends about his adventure and the big planes he went on.

Every day he deals with the trials of his condition, the constant testing, medication, the literal highs and lows. But he remains one of the happiest children you could ever meet. Life is just one big exciting adventure for him and he’s going to rise to whatever challenges come his way.

Welcome home my courageous fair-haired boy.

Finlay does it the hard way...again!

Finlay underwent surgery this morning to insert a cardiac catheter so they could plan the next step in his care. A minor operation. According to the American College of Cardiology, “Cardiac catheterization is a common medical procedure that rarely causes serious complications.”

Sadly no-one told Finlay.

There is a bit of history here. When he was about 5 months old he was due to have a cardiac catheterisation. The day after arriving in hospital he developed an infection. This was at a time when he was a very sick child. His heart was failing and glucose control seemed a mythical concept so infections were not unusual (to be honest we’re finding glucose control to still be a bit of a myth but glucose management is a developing skill!). So it was a week of a screaming upset baby before the operation went ahead.

During the surgery the surgeons placed a small coil into his PDA, a small vessel between the pulmonary artery and aorta that should have closed after birth but didn’t. This is a fairly common heart defect and is easily rectified, the coil blocking the blood flow through the blood vessel and effectively shutting it off.

However, following Finlay’s op he started passing very dark red urine, the blood was passing round the coil and being shredded in a process called haemolysis. Once the surgeons saw this he was whisked into the operating room and the coil was taken out with another catheter.

His PDA was going to have to be closed surgically. In the end they decided that if they were going in they might as well fix a few other things at the same time. So he ended up having open-heart surgery and a quick two-day visit to hospital turned into a month-long stay.

Fast forward three and a half years and another cardiac catheterisation. This time the heart side of it seemingly went very well. The right side of his heart has grown well meaning that the major replumbing work that we thought he’d need might not have to happen. He may get away with just closing up the remaining hole in his heart and heading off to live a long healthy life. But not quite yet. They are going to leave it for a couple of years and then go back in and see if that’s the right decision.

So a really positive outcome. The proposed fix is the best option we could have hoped for and should leave his heart as close to normal as possible giving him the best chance of a long happy life.

But Finlay being Finlay he wasn’t going to let that be the end of it. He seems to have a penchant for the dramatic. So while under the anaesthetic his lung collapsed and he is developing a chest infection. He seems to be in a bit of discomfort after the op but has managed to eat something and is on the mend. However his oxygen saturation is down and he is being given oxygen to help. He was supposed to be coming home tomorrow but the doctors are concerned about him flying following his collapsed lung so it may be after the weekend before he makes it home.

Looking just a little sorry for himself

Tomorrow I’ll have to sit down with his brothers and explain that Mummy and Finlay won’t be here when they get home from school. I’ll try to make it clear that he is going to be OK and just needs a bit more time to get better but it’s more difficult with them this time. For his first heart surgery the boys were much younger, more accepting of whatever we told them. Now they are more questioning, querying anything they don’t understand. Hopefully I can provide soothing answers to whatever questions they have.

Knowing my boys probably their first question will be ”Can we have pizza then?” And, guilt-wracked, I expect I’ll concede. Maybe comfort food is what we’ll need.

Hopefully I’ll give them all the answers they need to be positive about the situation. Because, despite everything, I am positive. His heart is doing well and the rest he can deal with. He’s come through tough times before and he will again. He’s a tough kid. He may have one dodgy gene but the other 23,000 are bloody good!

Thanks for understanding Boss

Hey Boss,

Over the last few years you’ve been really great when it comes to my son’s condition. You’ve taken a genuine interest in his wellbeing, you’ve indulged my obsession with all things pancreas and heart related and you’ve readily accepted that sometimes family has to come first. While I have tried not to take liberties, the nature of his disease has meant that sometimes I haven’t been as productive as I would have liked. Knowing that you are not going to be analysing my every move has allowed me to concentrate on doing what needs to be done. Perhaps I haven’t always articulated how much I appreciate this freedom.

I tell you this now because I may not be working at my best over the next few days. This morning I dropped my wife and son at the airport for a flight that took them to the children’s hospital in Auckland. They are now safely in the heart ward and tomorrow morning my son will undergo cardiac surgery.

As cardiac surgery goes it is fairly minor, an exploratory op for more serious intervention later on, but any procedure under general anaesthetic where surgeons are poking and prodding around in his heart carries some obvious risks. In his case the added complication of maintaining blood sugars at optimal levels while being nil-by-mouth brings its own challenges.

After a long hug from me at the airport he ran off grinning, pulling his little suitcase behind him, wide-eyed with anticipation. For a week he’s been telling anyone and everyone that he is going on the big plane. He knows he’s going to see some doctors but how much he comprehends is hard to say. Perhaps the less the better.

And the hardest part for me is not being able to do anything, a feeling of complete and utter uselessness. In reality it doesn’t matter if I am ten feet away or a thousand miles. I can’t help him in those crucial hours. But given the choice I’d rather be there. To calm him before the op, to comfort him after. But I am not the only consideration and neither is he. His brothers need to get on with their schooling. They need to have their lives carry on as normally as can be, some constants they can rely on: school, friends, routine. The money still has to be earned: the wolves at the door know no compassion. And hauling the whole family up and down the length of the country is costly – costs we can put off until his big op later in the year.

So tomorrow I may appear less focused. I may be quieter than usual. I expect I’ll be checking my cellphone frequently. If I take 10 minutes out of the office at any point don’t worry, it’s going to be one of those days. Some have suggested taking some time off but sitting at home waiting for the phone to ring seems like the worst possible option.

So I’ll be at my desk as usual. I won’t be starting any ground-breaking new projects. I think I’ll just catch up on some of the mindless paperwork, nothing I can’t drop halfway through. I’ll give as much as I can but it won’t be 100%. My body will be here, my mind and my heart will be in another city.

Knowing you’ll understand eases my burden greatly.

Thanks Boss

Fundraising Success

I like running. It's a great de-stresser. No matter what the day has thrown at me, an hour of pounding the streets or navigating a hillside trail and the world just seems a better place. And since diabetes and everything associated with it entered our lives, running has been my escape, my me time. I'm never going to set any records but it gets me out of the house on a regular basis.

So I think nothing of hopping out of bed and rattling off 15 or 20Km at the weekend. But that's not the case for everyone.

So it was quite a challenge for Vicky to enter a local charity 14K run to raise money for @Heart, a charity that helped us hugely through Finlay's birth and subsequent operations.

But last week she did it. The weeks of training in all weather paid off and she cruised round the course despite the heat of a glorious late summer day.

And it was really worth it. She managed to raise an impressive $1100 dollars to help other families facing the challenges of a child with congenital heart disease. And she got in the local paper (again!).

Finlay getting ready to lead the support team

Fighting Our Corner

We are fortunate to have only ever lived in countries with universal health care systems, so in theory no-one should be denied the care they need. However, there is only ever so much money available in a health budget and the need is seemingly endless. Decisions need to be made about what the health budget is spent on, what facilities to provide, what treatments to fund, what devices to supply. When it comes to medicines and medical devices in New Zealand the people entrusted with those decisions are Pharmac, the Pharmaceutical Management Agency.

With limited budgets and limitless ways to spend them, tough decisions have to be made and I believe in general they try to do the best they can with what they've got. But sometimes they get it wrong, and it's up to us as advocates for our children to ensure they put right any mistakes they make.

Recently Pharmac released two proposals relating to diabetes.

The first was to stop funding the existing subsidised brands of glucose meters used by almost all diabetics in NZ; Accu-check Performa, Optium Exceed, Freestyle Lite, On Call Advanced, and leave us with a sole supplier, iSens, who supply the demonstrably inferior CareSens range. The plan is to save NZ$10 million from their budget, although as many have pointed out, this is likely to result in far greater increases to other areas of the health budget resulting from poorer control of diabetes.

This proposal was met with horror by diabetics and resulted in over 3000 submissions to Pharmac, including mine, which we hope will make them reverse their plans but time will tell.

The second proposal was to fund insulin pumps and consumables. On the face of it this is good news as currently pumps are not funded nationally but on a piecemeal basis by various district health boards around the country, so the chances of getting one have really come down to luck, or considerable personal expense. That they will now be funded is great news. But that's where the good news ends.

They are only going to fund one pump, the Animas 2020. By chance that happens to be the one Finlay is currently on but for many others that is not the case. Pharmac seems to have a one-size-fits-all approach to diabetes. If only diabetes would reciprocate!

Another aspect to the proposal that alarms me is that they are only going to fund pumps for type 1s, or from our point of view, NOT FINLAY!!

So I have been back on the computer and sent a second submission within two days to Pharmac in time for yesterday's close of consultation. Although this proposal will affect many diabetics across New Zealand I have stuck mainly to issues specific to our case. For this I make no apology. When it comes to fighting for the health and wellbeing of my son, any of my sons, the gloves are off.

So here is my submission. Hopefully it, along with many others will bear fruit:

Dear XXXX,

Thank you for the opportunity to offer feedback on Pharmac's recent proposal to fund insulin pumps and consumables. While I am pleased that Pharmac has seen the need to fund these devices I am left with a number of concerns.

As I wrote in my submission on the proposal for funding changes for glucose testing equipment, in 2008 my son was born with a rare condition called pancreatic agenesis, where the entire pancreas failed to form, along with an absent gall bladder and multiple cardiac defects. Among other effects this left him an insulin-dependent diabetic. He was born with severe intrauterine growth restriction, weighing less than 1.4kg. Due to the lack of pancreas he failed to thrive in the early days and, following confirmation of his diagnosis he was put on an insulin pump, becoming one of the youngest and smallest children in the world to use the technology, a notable achievement for the New Zealand health system.

The tiny amounts of insulin that could be delivered via the pump were fundamental to his progress, allowing him to reach growth and developmental milestones far earlier than could have been achieved, if at all, with conventional insulin injections. Open-heart surgery that was required at 6 months of age was successful, an outcome that would have been far less likely had pump therapy not been an option. A measure of the importance of modern medical technology is that 2 decades ago there were no survivors among children with my son’s condition anywhere in the world.

After reading the proposal I am alarmed to read the criteria set out for Special Authority for subsidy for insulin pumps:

Special Authority for Subsidy for insulin pump

Initial application only from a relevant specialist. Approvals valid for three months for applications

meeting the following criteria:
1. Patient has type 1 diabetes; and
2. Either
2.1. has adhered to an intensive MDI regimen using analogue insulin’s for at least three
months but still has either:
2.1.1. four severe unexplained recurrent hypoglycaemic episodes over a six month
period either due to hypoglycaemic unawareness or to nocturnal hypoglycaemia; or
2.1.2. unpredictable and significant variability in blood glucose including significant
hypoglycaemia affecting the ability to reduce HbA1c and in the opinion of the
treating clinician, HbA1c could be reduced by at least 11 mmol/mol (1.0%) using
insulin pump treatment; and
2.1.3. has been evaluated by the multidisciplinary team for their suitability for insulin
pump therapy, or
2.2. is already on pump treatment prior to xx date (date Special Authority is initiated) and
met criteria 2.1 at the time of initiating that pump treatment and continues to benefit from
pump treatment

Both criteria 1 & 2 are required for Special Authority yet my son meets neither. He is not type 1 and as he was never treated with MDI he cannot meet criterion 2.

A similar scenario was included in the criteria for subsidising pump consumables where my son fitted neither criterion:

Special Authority for Subsidy for insulin pump consumables

Initial application only from a relevant specialist. Approvals valid for nine months for applications
meeting the following criteria:
1. Patient has had a valid Special Authority approval for an insulin pump approved under SA xxx
Renewal only from a relevant specialist. Approvals valid for two years for applications meeting the
following criteria:
Patient is continuing to derive benefit from insulin pump therapy as defined by:
1. Either
1.1. a reduction of hypoglycaemic events compared with pre-pump frequency by at least
50%; or
1.2. is maintaining a reduction of 11 mmol/mol (1%) HbA1c from baseline;

My son does not have any pre-pump data to compare as he has been on a pump since shortly after diagnosis and, similarly, any baseline measurements of HbA1c would be irrelevant.

Under the proposal as it stands my son would not qualify for subsidy for either a pump or pump consumables yet I consider the insulin pump an absolute necessity for his continued care.

Despite the multiple facets of my son’s condition, we as parents, working closely with our clinical teams, have managed to keep him remarkably healthy. Despite the severity of his condition, inpatient hospital stays have become a rarity and the insulin pump has been an integral part of this success.

I see from the PTAC Diabetes Subcommittee report from December 2011 that the subsidising of pumps to small groups such as neonatal diabetics such as my son, CF patients and pancreatectomy patients was raised but this issue was not resolved due to reasons that were not elaborated on in the report. The issue was not mentioned at all in last month’s proposal document.

In my view the relatively small cost of subsidising pumps and consumables for the small number of patients in these groups would be very cost-effective as they will prevent multiple expensive hospital admissions of these complex and potentially high cost patients.

The second issue I have is that the proposal appears to imply pumps will be supplied through a sole supplier. Limiting options to one brand of insulin pumps may not be in the best interests of individual patients. When my son was first put on a pump, an Animas 1200, it was the only one suitable for him at the time as it allowed delivery of the smallest increments of insulin which was critical for good growth in a very small child, particularly as we were trying to strengthen him for his imminent cardiac surgery. Had we been restricted to another brand there would likely have been serious, possibly life-threatening consequences. While our son’s condition was/is unusual, I believe he is a good illustration of how we should not adopt a one-size-fits-all approach to insulin pumps. There are inevitably going to be other patients for whom the optimal pump is denied due to a sole supplier status. The large initial outlay in purchasing a pump and continuing cost of consumables will make self-funding of alternatives an impossible burden for many families.

There are a range of insulin pumps, each having their own pros and cons. Different patients have different needs and while the Animas 2020 may be the best option for some, it will not be for others. Also, whereas the Animas 2020 my son currently has is serving him well, he is a pre-schooler. Whether it will be the best option for him as he grows through puberty and into adulthood is something that should be decided when the time arises, by clinical criteria, not by the stroke of a pen years earlier.

I thank you for the opportunity to comment on your proposal and hope that you will consider my comments prior to finalising any policy.

The Rollercoaster Rides On.....

We knew it was coming but the reality still hits hard.

 Yesterday we had an appointment with the cardiologist. It was all over in a few minutes. In fact it was all over by the time I joined them at the hospital after getting the older boys to school. The result is we will be getting an appointment for a cardiac catheter in the next few months. What this means is that Finlay will fly up to Auckland on the North Island of New Zealand with Vicky and spend a few days at the hospital. All the paediatric cardiac specialists in the country are based in Auckland.

We’ve been waiting for this for a while but the realisation of another imminent operation still fills us with dread. He had open heart surgery at 6 months old but only some of his problems were fixed. For the rest we adopted a wait-and-see approach. We’ve done the waiting, this next op is the seeing! The main problem left with his heart is that the right ventricle (the one that pumps blood to his lungs) is too small. This op will let the surgeons see whether it has grown sufficiently in relation to the rest of the heart for them to do a quick patch up job and send us on our way or whether there will need to be some major replumbing to take the strain off his small right ventricle.

Next year, Finlay will turn five. In New Zealand children start school on their fifth birthday, whenever it is during the year. Quite a nice way of doing it, each child having their special day. For us it’s more than the start of his journey through school: it’s a line in the sand for his heart. The cardiologists want to have his heart sorted before he starts school. They see little benefit in waiting longer and they don’t want his schooling to be disrupted by major heart surgery. So we’ve always known that cardiac surgery would happen sometime in the next year.

So what will happen is he will be put under general anaesthetic while a catheter is pushed up a vein from his groin all the way into his heart. Finlay has a hole between the right and left atria that was left open during his previous surgery to relieve the pressure on his small ventricle. Once the catheter gets into his heart they will stick a balloon in the hole to block it and measure the pressures within the heart. If all is well then they’ll schedule an op to close up the hole and all should be well. If, as seems likely, things aren’t so good, then a more complex surgery will be needed to take some of the blood returning from the body and redirect it straight to the lungs bypassing the heart, thereby easing the pressure on the heart.

The catheter operation is about as simple as heart surgery gets but is still far from a walk in the park. There will be a general anaesthetic which is never nice. We will have the fun and games of nil-by-mouth prior to surgery with a diabetic while trying to deliver him to the surgeons with his sugars at a good figure. In a different hospital all the staff will have to get to know his case. With him being the only one with his condition in the country only those that saw him three and half years ago will ever have seen a case like him. Hopefully those that do remember will be able to make it clear that his mother knows what she is doing when it comes to his diabetes and she should be listened to. Back at home his brothers are old enough to understand why he won’t be at home and they’ll have to suffer my cooking for a few days – we all suffer for this disease!

A year from now our son will have his heart fixed, perhaps not 100% but hopefully to a level where he will be able to live a full, productive life doing all the things he wants to. We’ve always been determined that diabetes shouldn’t hold him back, the surgeons can hopefully ensure his heart doesn’t either.

So the upcoming operations are a positive step, another milestone on the path to beating his disease, but it’s only natural to be nervous. The necessary suffering he will endure and the inherent risks, all the risks. He’s so small. He shouldn’t have to go through all this.

Blissfully unaware of what's coming

So for now we carry on with the day-to-day, waiting for the letter……the rollercoaster rides on…..

A run for anyone's money!

Since Finlay's birth we have been helped by so many wonderful people. The debt we owe is larger than we could ever pay back. But that shouldn't stop us trying. I posted previously about how we were able to raise funds for one of the charities that helped us through a photo competition that was won by a photo featuring a 5 month old Finlay. (I say we helped but it was really our friend Simon who took the photo and did the work.)

Well we're raising more funds for the @Heart charity and this time it's Vicky that's doing the hard yards....15 long kilometres of them!

The City2Surf is an annual charity run in Christchurch that gives her the chance to raise lots more money to help families of children with heart defects. And this morning she got a piece in the local paper

Finlay's Latest Sports Gear?

An insulin pump is not an everyday item for most people so quite often we'll get questions about what the little device with the tube attached to Finlay is. Sometimes they'll guess that it's medical, other times they'll come up with some stranger conclusions, quite often they'll think it's an MP3 player. We're getting used to the horrified stares from concerned people thinking what dreadful parents we are letting such a young child damage his ears listening to music! Usually a brief explanation allays their fears. Today was a new one for me though...

The New Zealand National Road Cycling Championships were being held close to where we live this weekend so we popped along to see the best cyclists in the country compete against each other. There was quite a crowd near the top of the hill section of the race enjoying the atmosphere and the glorious summer weather.

There were lots of very fit-looking lycra-clad spectators with all the latest high performance gadgets. Another family was watching beside us and the father noticed the pump Back Buddy on my three year old and the tube coming out of it and asked me, "Is that a mini Camelbak?" (For those not obsessed with sport a Camelbak is a backpack containing a bladder and drinking tube that can be filled with water for running, cycling or walking)

"Sorry?" I said, not quite sure of what I'd heard.

"Is that a Camelbak?"

Partly taken aback and partly amused I replied, "Yeah, I forced him to run up the hill to get here," quickly adding "no, it's an insulin pump. He's diabetic"

"Oh right"

At this point his embarrassed wife slaps his arm in admonishment, not quite believing what her husband had just said.

I think she was relieved to see a grin on my face and I explained that it was often confused for other things like MP3 players. But this was a new one for us.

Finlay and his brothers make some noise as the cyclists tackle the climb

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.