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.