Ed's Daily Progress

The Great NPC Bake Off… call for bakers

Saturday 1st March, Balgowlah Bunnings

Dear friends

It’s game-on for the Great NPC Bake Off and we need volunteers to lend a hand to bake more than a few yummy cakes and goodies.

Friends have rallied to organise a cake stall fundraiser at Balgowlah Bunnings on Saturday 1st March. The catch is that we now need to GET BAKING.

Our event will raise money for the Australian Niemann-Pick Foundation, which is seeking assistance in raising funds for a specific medical research project.

Rare Disease Day is on 28 February, so what better time to raise awareness as well as a few dollars to fund research into Niemann-Pick Disease Type C (NPC).

How can you help? We need you to bake like crazy and then drop off your scrumptious homemade treats to Balgowlah Bunnings between 9:00-9:45am that day. Or donate a cake you’ve bought.

Save The Date

WHAT: Cake stall – selling cakes, slices, biscuits, lolly bags, cookies and other yummy treats
WHERE: Balgowlah Bunnings, at Corner Balgowlah Road & Condamine Street, Balgowlah
DATE: Saturday, 1st March 2014
TIME: 10:00am to 2:00pm – bring your wallet and send your hungry friends down on the day!

Cake Bakers
DROP OFF: Between 9:00am and 9:45am– please deliver treats at Balgowlah Bunnings front entrance, cake stall
PLEDGE: Please place your cake pledge in the comments below
DISPLAY: Please bring products ready for sale, either as individual items or whole cake (packaged)
REQUEST: No nuts please. Gluten free welcome
CONTACTS ON THE DAY: Julie 0410 334 333, Sadie 0425 216 218, Angela 0407 213522

No worries if you cant help this time, just stay posted for other ways you can support the NPC cause as we’re planning a movie night at The Orpheum for early April.

Donations can be made via http://npcd.org.au/ by clicking DONATE NOW.

Did you know?
There are fewer than 15 Niemann-Pick Disease Type C patients in Australia.
Worldwide, only 500 people have been diagnosed with NPC.
The value of shining a spotlight on this rare disease can’t be underestimated.
Find out more at http://npcd.org.au/


Tell your friends and spread the word. Talking about it will help more people know about NPC.

Pic for Blog

Ed's Daily Progress

A call for Fundraising Help

For many reasons I have held off making any move or mention of raising funds for our little guy but I feel the time and opportunity has come.

Aside from the very obvious one of being so time poor, up until now I’ve been very torn between raising funds for the world of Oncology and that of Rare Metabollic diseases, namely NPC. Then I have been grappling with the issue of what do you raise funds for- research or the Organisations that support families affected. And to be honest the passed 12 months we have just had to put our head down with one foot in front of the other and move forward as best we can. Incidentally the 12th of February marks 12 months since his ALL diagnosis.

Of late I’ve been thinking more towards the NPC research and rare diseases given there seems to be quite a considerable amount of funding to pediatric Oncology. I have these grand ideas of establishing a foundation and holding an annual Fundraising ball eventually but currently time and energy is hindering these plans which is why I’m sharing this with you. Hopefully small steps will turn into big ones.

Our little guy has been very fortunate to receive many life saving and life prolonging drugs that researchers, doctors and even families have researched and campaigned for both for his ALL and NPC. Here is a link to a story from the Wall Street Journal which details the plight of some families in the US campaigning to get a treatment drug for NPC to their kids. I’m in electronic contact with all of these families and some of their doctors. I’ll forewarn you now, it’s lengthy and at times confronting but also very inspiring.

Given Ed’s ALL is a priority to be treated over his NPC he’s not really currently a candidate to be pushing for this Cyclodextrin mentioned in the article. However there is currently an oncology drug called Vorinostat which is being used to treat certain strains of Leukemia and now there is some research being conducted into using this exact same Oncology drug as a treatment (not cure) for NPC. Furthermore, just last week the Children’s Hospital at Westmead has begun a new trial using this Vorinostat for relapsed ALL.
What are the chances you ask, and yes just to remind you Ed is the only known patient in the world battling ALL and NPC. It’s early days and much more ground work to be done on this front but there is the possibility that he may begin on this drug in the coming months. I’m really pushing for this as what have we got to lose- two diseases, one drug. Too good to be true!!

I’m sharing all of this with you so you have some idea of where we are at in terms of research, drugs and current treatment plans as I have very recently been contacted by the President of the Australian Niemann Pick Foundation seeking some assistance in raising funds for a specific project and despite how time poor I am it’s a difficult one to ignore. It goes like this:

Professor Mark Wolterfang is a leading Neuropsychiatrist based at the University of Melbourne and is one of Australia’s experts in NPC. For several years he has been working with Professor Ashley Bush and a medicinal chemist doing their Post Doctorate research on an unnamed compound that they believe to be an effective treatment (not cure) for NPC. It is currently being trialled in human cell lines in NPC affected mice which they purchased from the States.

This research in the animal models is being conducted at the Howard Florey Institute based at Melbourne University. Previously the research has been funded by the National Health and Medical Research Council but they have been unsuccessful in securing any more funding in the last 2 rounds. As a result Professor Wolterfang contacted the NPC Foundation as they feel they are very close to making a breakthrough but need some financial assistance. If successful it will then be trialled in humans in the not so distant future. In order to continue with the research they are looking for $120,000 for 12 months of research. This is basically broken down into $100,000 for the Post Doctorate salary and admin costs, and $20,000 to house the NPC mice. If the funding doesn’t appear, even just half ($60,000 for 6 months) then the entire project will be closed down around April of this year.

It’s hard to say where the research will lead and if the compound will eventually come to market but I really feel this is something I need to get behind. Ed is currently on about 8-12 medications at any one time and I’m sure every single one of those drugs in their initial stages has had to go through a rigorous testing process such as this to get to market. We have been fortunate enough to reap the benefits of those before who fought for compassionate use of the Miglustat he is on (a therapy drug for his NPC) and now I feel it’s time to join in on the momentum of fundraising and support research. There are approximately 10-15 known patients in Australia with NPC so hopefully between us we’ll be able to raise the funds to keep the research going but at this point in time I need some help.

28th of February is World Rare Disease day (http://www.rarediseasedayaustralia.com.au/) and I’m hoping to pull something together around this time depending on the amount of hospital hours we clock up between now and then but I’m now putting it out there to see what you could do to help.

I’m open to anything, anybody has to offer but here is a list of suggestions of where we might start thinking:

*Prizes for a Raffle
The NPC President is in the process of putting together a raffle and aiming for some pretty major prizes- a cruise, major holiday, furniture, gift vouchers, services, whatever she can get her hands on so any leads there will be greatly appreciated. If there is something in your workplace that you think might be worth donating then let me know.

*Corporate Philanthropy
If anybody works for a major or large company and you think the company might be interested in donating I’m putting together some more formal corporate introductory letters if you need

*Host a small gathering:
Movie night, afternoon tea, girls night in, golf day, cards day, Jeans for Genes day in your workplace, even a dinner party and get people to make a small donation
Remember 28th of February is World Rare Disease Day so that might be a good day to hold it.

Or just donate.

Donations can be made via the Australian NPC Foundation website (http://npcd.org.au/) click on DONATE NOW or the details for EFT or in person at any ANZ Branch are:

Account Name: Australian NPC Disease Foundation Inc

BSB: 013-525

Account: 5722-92555

All donations over $2 are Tax Deductible

Please mark your donation for RESEARCH, although I’m sure all monies raised in the next few months will go directly to this cause.

I’ll keep you posted with any new ideas I may have, including my own little fundraiser.

Until next time, and as always thank you all so much for your love, friendship and support to our family. We are often overwhelmed by the strength and generosity of the human spirit during this time. Each and every one of you play a part in this journey and we know you help in whatever way you can, for this we are ever grateful.

Ed's Daily Progress

Happy Holidays

Merry Christmas, Happy New Year, and peaceful holidays to all. Apologies for the delay in post but like everybody at this time of year it’s been a very busy and jam packed 8 weeks since my last post with longer stretches out of hospital for our tough little guy.

But I’ll walk you back along the road to where I left you last at the very end of November when he was in hospital with an infection in his line and a confirmation of chronic lung issues. It seems we have come the full circle as we’re currently back in hospital with another Infection in his line and lungs not great after being a clear for a good few weeks and minimal oxygen, if any during the day.

Fortunately, after 7 days of IV antibiotics at the end of November the infection in his Central Line was cleared and the little guy picked up on that front. This was great news as some strains of bacteria can linger, and becoming resistant to certain types of antibiotics and thus difficult to treat and eliminate. And as we know nothing is straight forward with this little guy. Another CT scan of his lungs confirmed there were some chronic changes in his lungs consistent with Niemann Pick Disease. These changes can come and go over a period of days or even months and hence his oxygen requirements vary so accordingly. He can go a day or two and not require any oxygen and other times he’ll be on a 1 litre or day and night, you just have to gauge his work of breathing and general well-being.

About 10 days into December he received his first lot of intensive IV Chemotherapy drugs in almost 3 months- Dexamethasone and Vincristine. During this period he had been on lighter oral Chemo drugs or what they call maintenance. With an estimated period of 7-10 days being the worst period for his blood counts to drop making him at greater risk of infection it was looking very likely that the little guy would be in hospital for Christmas and the thought of 7 days away down the south coast seemed near impossible.

Immediately following the IV Chemo he was discharged as he was reasonably well and his blood count still holding its own. The idea was for him to enjoy a bit of time out of hospital knowing that he would probably be back in within a week or so, a chance to enjoy the sunshine and a bit of Christmas Festivities.

I think I’ve mentioned before that bringing the little guy home after a stretch in hospital is a bit like bringing a new-born home. Very fun and exciting, but also extremely chaotic and always takes some adjustment for everybody especially on the sleeping front for our little guy. I think he had 2 or 3 very sleepness nights for all before we had to take him back about 3:00am one Saturday morning as he was in severe pain which we couldn’t get under control with the Morphine and Oxycodeine we had at home. Having spent several horrible nights in hospital a few months back after the same Chemo drugs we thought he had Pancreatitis the way he was clutching his stomach and really the only thing to do was to get him quickly back onto IV pain relief.

After a speedy drive down the M2 at 2:00am in the morning and a very quick skip through Emergency we were back up on the Variety Ward well before the nurses finished other night shift at 8:00am. Once IV pain relief kicked in he was much more settled and we both spent the entire Saturday in a hospital bed catching both catching up on some much-needed this sleep. It was these couple of days at home, followed by a night rush to the hospital that was really starting to test our strength and resilience. I managed to spend an entire Saturday in bed in hospital sleeping followed by a 9 hour lunch on the Sunday with a couple of mates was fortunately enough to bring me back.

In the background the Oncology team were madly making arrangements for him to head down the south coast for our family holiday. pediatricians at Shoalhaven were contacted, introductory letters written and oxygen machines and cylinders arranged. Always the one to be optimistic with the glass half full I must admit even I was very impressed by their optimism.

With his blood counts not dropping nearly as low as expected our little guy was in reasonable spirits in the lead up to Christmas. It’s hard to know whether the Hydramorphone or the progression of his NPC has dropped his energy levels as he was at that time tending to sleep a fair bit during the day.

Twas 2 days before Christmas and the question was posed as to whether we would like on overnight gate pass from the hospital Christmas Eve or Christmas night- we took Christmas Eve. It was at this moment that I realised it was looking very likely he would be joining us on the annual family holiday to Bawley Point. Whilst very exciting, I was also totally daunted and exhausted thinking about taking the little guy who had spent almost an entire year in hospital away on holidays, some 4 hours away from the hospital but more on the later.

And so on the afternoon of the 24th December the little guy kicked off his Christmas celebrations at his Grandad and Nanny Sue’s. Christmas Day rolled on and it certainly was fantastic to have him wake up in the same house as us (even if the night was restless). I think it must have been all the noise Santa was making putting up the Springfree Trampoline up in the backyard that kept him awake. He had to return to Club WestMed on Christmas night to have some bloods done and a final decision as to whether to discharge for the family holiday.

With his Blood count not too severely compromised and his oral Chemotherapy stopped the little guy was discharged on Boxing Day. With his CAD pump running through his central line, 1 litre of oxygen through ins nose, and his Feeding Pump running at 20 hours a day through his stomach moving our little guy around was certainly not speedy. After a day of packing 2 cars to accommodate all that was needed we set off with some hesitation, not to mention exhaustion for Bawley Point a couple of days after Christmas.

It was a very special and precious time away but I’ll be the first to admit it was busy and exhausting. Then again, holidays with 5 kids under 7 is never going to be relaxing in the sun, sunrise yoga on the beach, long quiet morning walks, a few hours with a book, an afternoon siesta and sunset cocktails……….well not for now anyhow. I do know that despite the sleepless nights (trust me not from partying) and tending to all of the medical needs we were truly blessed to have spent an entire 7 days all together holidaying as a family with our special friends the Jackson/Rochester’s.

Always one to keep us on our toes there was one quick trip to the local hospital for a replacement cap on his central line since he had managed to soil it with a messy nappy blow out. Fortunately they were happy to just give me the cap without going into his entire medical history.

Within a couple of days of returning and getting back onto the oral maintenance Chemo our little guy was back in hospital this time, wait for it………sunburn. How bad do we feel?? He started to get these blisters on his face, ears and feet and after they ruled out any viral types of herpes, hand, foot and mouth and enterovirus there was the suggestion that perhaps it was sunburn. As the days in hospital wore on and the blisters worsened despite not having seen any sun they suspect it was a long-term side effect of one of the drugs he’d been taking for a few months. Once again it was a case of ” we don’t normally seen this in patients but…….”. If I had a dollar for every time I heard this with Ed I reckon we could have found a cure for cancer by now.

After 7 days in hospital we were discharged on sent on our merry way. A week of restless nights and total sleep deprivation I reached the conclusion that I probably would be safer and more coherent after having drunk a bottle of wine rather than operating on the minimal amount of sleep we were getting. It was like the newborn baby days without the quiet, sleepy patches in the day. I realised just how sleep deprived we all were when 5 mins after leaving the house one morning all 3 kids were passed out sound asleep so I too took the opportunity and pulled over for a quick kip, it was 9:30 in the morning!!

After a week at home and just before the Australia Day long weekend the little guy turned a corner and his nights much more settled. It was such an amazing feeling once the fog lifted and we started to get some sleep. We spent the last week in January enjoying the sunshine, going to the beach, movies and hanging out together before Isabel went back to school.

We had managed to pump most of his feeds into him at night, he was just on oral pain relief rather than the CAD pump and not requiring any oxygen in the day.

We had turned quite a corner so it was very disappointing to wake at 1:30am on the morning of Isabel’s first day back at school to a temperature and vomiting- another night raging in the ED department at Club WestMed. Not long after we arrived and pretty much straight after they accessed his central line the poor little guys fever hit almost 41 despite having Panadol and Neurofen. He was white as the bed sheet and shivering and chattering, saying he was “freezing”- I didn’t even know he knew that word. Fortunately further Panadol kicked in along with the IV antibiotics. We’ve been through a lot with Ed but I’d never seen him like that.

It turns out he has another Infection in his central line and will be in at least until the end of the week (7 days) on IV antibiotics. The infection in the line explains the spike in fever immediately after they accessed his central line as they basically pushed the bacteria straight back into him, thus causing the reaction which they call a “Septic Shower”.

In addition to this infection he also has a pressure sore on his bottom that he’s had for about 6 weeks but seems to be worsening along with the pains and discomfort so they’re currently treating that with a silver dressing- nothing but the best for our little guy!!

Here’s hoping we get back to where we left off sooner rather than later so we can get started on some fundraising which is what my next post will be about. In the meantime here are a few pics from the passed few months.

A pre Christmas visit from a very large Peppa Pig


A couple of compulsory Christmas snaps
image image

School Holiday Fun with Issy image

Christmas Morning







Happy Holiday Time at home



Bawley Point