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Light the Night in your own special way this year

Light the Night in your own special way this year

Those of you who’ve been part of Light the Night over the years, know what an incredible experience it is.  The connection with others.  Shared lived experiences.  United in hope.  It takes your breath away.

A family holding Light the Night lanterns, gathered in their backyard at night
Light the Night in your own special way this year

In a year like no other, Australia’s most beautiful blood cancer community event has been thoughtfully re-imagined to allow us to come together in a new and wonderful way.

This year, you are invited to shine a light on blood cancer in your own special way by hosting a twilight gathering with your loved ones on Saturday, 10 October.

How you choose to Light the Night is limited only by your imagination. A family dinner party, a sunset barbeque with close friends…a twilight picnic in the backyard? It’s up to you!

As darkness falls – you will be part of the official lantern lighting ceremony that will take place in thousands of homes across Australia at the same moment via video stream.

Light your lantern…

Illustration of a white lanternIn honour of your own blood cancer journey

Illustration of a yellow lantern

In memory of a loved one lost

Illustration of a blue lantern

In support of those affected by blood cancer

Be part of this very special Light the Night.  Sign up to host a Light the night for your loved ones at lightthenight.org.au.

Heartfelt thanks to Bridgestone Australia for their 12th year as Light the Night Principal Partner, unwaveringly supporting Australians with blood cancer for over 34 years.

Breaking barriers: At the table with best and brightest

Breaking barriers: At the table with best and brightest

Deb Sims with her family
Deb Sims with her family

This year is the tenth Blood Cancer Awareness Month and Deb Sims shares her story to help us mark this important awareness month. Deb has blood cancer and is also a member of the Blood Cancer Taskforce.

I moved back to Australia from London in 2006 and, in 2011, was diagnosed in Melbourne at the age of 38 with a blood cancer called chronic lymphocytic leukaemia (CLL) and given five years to live. The average patient is a 72-year-old man. My children were aged only seven, five and two at the time.

I had chemo in 2013, relapsed as doctors said I would, and was about to have a risky bone marrow transplant when I discovered there was a trial of a new drug which I could get onto if I moved back to the UK.  My youngest child was in prep and I had to kiss her and her older brothers goodbye and fly to London.

I stayed there for seven months with the children visiting me in school holidays.  That treatment put me into three years of clinical remission with no detectable disease, but I had to commute to London to stay on the clinical trial for two and a half years after my doctors allowed me to move back to Australia in early 2016.

The first year was monthly flights. I’d leave Melbourne on a Tuesday afternoon arrive in London on a Wednesday morning, go to Barts Hospital, do the tests for the trial, pick up my drug and then fly back to Australia on the Thursday morning arriving back in Melbourne on the Friday night.

I did 10 flights to London in a year.  After that it was every three months for another 18 months so it was still difficult. I cried when I was able to get the drug in Australia and stop commuting.  That drug was invented in Australia at the WEHI in Melbourne and wasn’t even approved by the US Food and Drug Administration when I started it. It’s now on Australia’s Pharmaceutical Benefits Scheme (PBS) .

I came off that novel therapy just after I had the honour to start working on the Blood Cancer Taskforce. In fact, three of my doctors are on the taskforce with me and it’s incredible to be at the table with Australia’s best and brightest blood cancer experts.

And I’m living the work we’re doing: I’m now on another novel therapy that was only listed on the PBS last year and I’m about to become one of the first patients with CLL in Australia to have CAR-T, a highly experimental and expensive but potentially curative treatment for my disease.

I go into hospital next week (September 2020).  This is my fifth line treatment.  It won’t be easy but we’ll know if it has worked by mid October.

The treatment I’m about to have is another first-in-human study and only five centres in the world are offering this trial. The Peter Mac in Melbourne is the only hospital outside of the US to be offering it thanks to the funding the hospital received to set up a centre for CAR-T a year ago.

I strongly feel it’s my role as the patient representative on the taskforce to make sure all blood cancer patients, no matter where they live, have access to the right treatments for them at the right time.

We must also make sure every patient knows about clinical trials and is able to have the opportunity to get on them. We’re fortunate in that we get so many of them in Australia.

I also believe we can close the gap in outcomes and eliminate unnecessary deaths to blood cancer and that’s why I’m so proud of what the taskforce has achieved so far but this is just the start. After we release the National Strategic Action Plan for Blood Cancer the work begins to implement our recommendations. I hope I’ll be able to help with that, too.

I’m a journalist, working full time, as well as home schooling, and the whole Covid-19 experience has actually made me feel safer than ever before because everyone around me is taking precautions. Although I’m ready to stop being locked down now (and so are my children and the rest of Melbourne I think)!   They’re 16, 13 and 10 now and I’ve outlived my prognosis by five years.

I’m hoping that scientists and my doctors will help that continue for many years to come.

Breaking barriers: Sharyn’s 130,000km journey to treatment

Breaking barriers: Sharyn’s 130,000km journey to treatment

Blood cancer survivor Sharyn Polce has experienced first-hand the ‘postcode lottery’ of treatment, after travelling neary 130,000km in four years to access the treatment she needed.

Sharyn Polce at her 50th birthday celebrations
Sharyn at her 50th birthday celebrations

 

While we mark the tenth anniversary of Blood Cancer Awareness Month, Sharyn will also be celebrating ten years since her diagnosis with a blood cancer called chronic myeloid leukaemia (CML).

The mother-of-two from Perth was first diagnosed only two weeks after her 40th birthday in 2010.

“The diagnosis was life-changing and came just months after my best friend lost their child to leukaemia,” remembered the now 50-year-old.

Sharyn Polce with her children
Sharyn with her daughter, Dani and son, Jake

Six years after her diagnosis, Sharyn was still struggling to conquer the disease.

“I had been through four rounds of chemotherapy but just kept on relapsing and all other forms of treatment had failed,” explained Sharyn.

“My only other chance for a cure was a stem cell transplant which proved impossible. Out of the millions of people on the National Bone Marrow Registry, not one was a match.”

Sharyn was finally given hope with the chance to take part in a ‘first-in-human’ trial run by world-leading Adelaide CML specialist and Blood Cancer Taskforce member, Dr Timothy Hughes.

The trial was Sharyn’s only option and she had to relocate to Adelaide to be part of it.

Living with blood cancer for so many years meant Sharyn had been unable to work and had already sold her house. Money for accommodation and transport was tight.

Sharyn and her partner, Troy Pegrum, temporarily relocated from Perth into a unit at the purpose-built Bridgestone Australia Leukaemia Foundation Village in Adelaide.

Sharyn Polce with her partner Troy
Sharyn with her partner, Troy

The village is a home away-from-home for regional patients like Sharyn who are forced to relocate to capital cities for vital treatment.

“Without the Leukaemia Foundation there was just no way we could have afforded to stay in Adelaide,” said Sharyn.

“Because your life depends on these drugs and the trial, you’ve got no choice. You’re basically hoping these drugs save your life and kill your cancer before it kills you.”

Since 2016, Sharyn has been forced to travel back and forth to her trial in Adelaide every month, around 24 times in total.

Incredibly she has covered more than 129,000km and its cost her around $20,000 in airfares alone.

This Blood Cancer Awareness Month, the Leukaemia Foundation has prioritised ending the postcode lottery faced by regional patients.

Last year’s first-of-its-kind State of the Nation: Blood Cancer in Australia report revealed a 13 per cent gap in survival rates between patients in regional and metropolitan areas (5%), and between states and territories (8%).

By breaking down these barriers and removing variations in access to best practice treatment and care, Australia could minimise mortality and potentially save up to 22,000 lives by 2035.

You’re a part of the blood cancer revolution!

You’re a part of the blood cancer revolution!

Our supporters are driving something truly significant this September – a once-in-a-generation opportunity to reduce the impact of blood cancer.

Deb Sims sitting with her three young children.
Deborah Sims, Blood Cancer Taskforce member (pictured with her three children). Deb was diagnosed with chronic lymphocytic leukaemia (CLL) in 2011, aged 38.

Many people know blood cancer is one of this country’s most common, costly and fatal cancers. It can affect anyone, at any stage of life – often with no warning signs.

Sadly, for children and teenagers, blood cancer is still the most commonly diagnosed cancer.

Last year’s State of the Nation report was the first of its kind, looking at the factors influencing survival and quality of life for Australians with blood cancer.

What this report found is very concerning.

In short, there are many obstacles standing between people with blood cancer and the treatment that’s best for them. Whether it’s where they live, if they’re being advised about clinical trials, or simply if they have enough money to pay for the right treatment.

Thankfully, this September in Blood Cancer Awareness Month, your support can help enable a new plan.

Australia’s first-ever National Strategic Action Plan for Blood Cancer is a blueprint for change, tackling the tough issues facing people affected by these diseases.

It re-imagines the way treatment and care of blood cancer patients is delivered across our country.

The plan recommends change right through the blood cancer experience. From the moment a person is diagnosed, through their treatment and recovery and adjustment to life beyond treatment – wherever they live in Australia and whatever their background.

It also looks at the challenges many people face – including those living in regional or remote areas, Aboriginal and Torres Strait Islander communities, and people with diverse and varied cultural and ethnic backgrounds.

This plan was led by our Blood Cancer Taskforce, Australia’s best and brightest blood cancer experts – and our generous supporters helped make it happen!

The Taskforce is a joint initiative between the Leukaemia Foundation and the Federal Government, made up of Australia’s leading haematologists, blood cancer researchers, industry experts and Australians diagnosed with blood cancer. They combined their brainpower, experience and determination to develop a vital pathway to change.

Achieving best practice; Empower patients and families; enable access to novel and specialised therapies; accelerate research
The Taskforce has real progress in their sights

This September, you can progress the fight to conquer blood cancer. Find out how you can help people with blood cancer get the treatments they need.

“Being part of the Taskforce is an incredible honour as I know first-hand how urgent it is for this country to improve treatment approaches to blood cancer. I moved to the UK for an experimental drug I needed to survive. In a cruel irony, a drug that was originally developed in Melbourne. Clinical trials offer more than hope for the future in some cases they literally offer life.

Thank you to everyone who is standing with us against this devastating disease – you are giving people living with blood cancer a better tomorrow.”

– Deborah Sims, Blood Cancer Taskforce member (pictured at the top of this article)

How your support is inspiring others to give

How your support is inspiring others to give!

When the generosity of Leukaemia Foundation supporters helped provide emergency accommodation and the trusted support of Blood Cancer Support Coordinators to the Hughes family, they wanted to find a special way to say thank you.

Courtney and Kate in Courtney's hospital room during treatment
Sisters Courtney and Kate Hughes. Kate was Courtney’s donor for her stem cell transplant.

Sisters Courtney, Kate and Anneliese were so grateful for the kindness of supporters that they were inspired to give back to the blood cancer community. They wanted to help others feel as supported as they do, while 30-year-old Courtney is undergoing blood cancer treatment.

Knowing first-hand just how valuable this personalised support is for families like theirs, all three sisters recently took part in Dry July to fund more Blood Cancer Support Coordinators across the country.

“The Leukaemia Foundation are the angels that softened the blow for me. We didn’t know what we were in for and the help we have been given is amazing.”

Dry July logo“Not only have they been there for me throughout this experience, they have supported my amazing sister Kate too, who has been my stem cell donor,” explains Courtney.

“Dry July has been a positive way for us to give other families facing blood cancer the support we know makes such a difference.”

The Leukaemia Foundation is proud to be a major beneficiary of the Dry July campaign. Thank you Dry July Foundation – and dry Aussies like the Hughes sisters – for funding our Australia-wide network of Blood Cancer Support Coordinators.

Accommodation project takes step forward to support people with blood cancer

Accommodation project takes step forward to support people with blood cancer

Illustration of proposed Murdoch Health & Knowledge Precinct
Illustration of proposed Murdoch Health & Knowledge Precinct

It’s a promising time for Western Australians living with blood cancer.

The Leukaemia Foundation team is working closely with developers Fini Group to support the outcomes of the Murdoch Health & Knowledge Precinct in Perth, Western Australia.

Aiming to bring this revolutionary share-building space to life, the project will centralise the treatment experience and relocation options for people with blood cancer.

The precinct will include short-stay accommodation, residential apartments, aged care services and allied health services (and much more!), positioned between two major hospitals.

It will also be the home to charities and not-for-profits, driving opportunities for collaborative and innovative services for the wider community.

Jennie’s had baby George since her MPN diagnosis

Jennie’s had baby George since her MPN diagnosis

Jennie Wigginton and her family on holiday at Wilson’s Promontory in September 2017
Jennie Wigginton and her family on holiday at Wilson’s Promontory in September 2017

Jennie and Russell Wigginton had to put their plans to have a second child on hold when Jennie was diagnosed “out of the blue” with essential thrombocythaemia (ET) in May 2015. 

Their son, Austin, was two at the time, and the Wiggintons had been trying for a second child for six months.

“We got pregnant quite quickly with our first,” said Jennie, now 39, a social worker who also runs her own business as a fitness instructor and personal trainer.

Jennie Wigginton in the park
Jennie Wigginton: “I do what I can to stay healthy, and ultimately my family is my inspiration”

In the build-up to her diagnosis, Jennie had been getting severe headaches.

“Really painful headaches, where you could take Panadol and Nurofen and it wouldn’t even touch the sides,” she explained.

Russell, concerned she may be diabetic, suggested she go to the doctor, and three days after having blood tests, Jennie got a call saying she needed to see the doctor again, straight away.

“My results showed my blood platelet count was up near the two million mark, and when I asked what the usual range was, it was 450, so it was massively out of the normal range.

“They said, ‘look, it’s in line with essential thrombocythaemia’ and sent me to the emergency department, to see whether I needed to see someone urgently about it.”

Jennie was told there was nothing they could do at that time, and to go home, take some aspirin and the haematology department would be in touch.

“Within a week, they did some very thorough work and checked all my levels. I had an ultrasound of my spleen, a CT scan of my brain, and a bone marrow biopsy, before I started any medication.

“Then I went on hydroxyurea, initially, to help control my platelet count.

“The bone marrow biopsy actually revealed the early stages of myelofibrosis (MF). I’ve got some scarring on my bone marrow,” said Jennie.

Her diagnosis was a combination of MF and ET and she began seeing her haematologist every fortnight and had regular blood tests.

“The platelets started responding straight away and they’ve gradually come down, but not ever to within the normal range.

“When I first found out I had this condition, I was told MPN normally affected people in their 60s or older,” said Jennie who was 35 at the time.

“I wondered what it meant for me as a younger person and somebody who wanted to continue with having more children. I didn’t know what the impact was going to be, so obviously it was a little bit scary.

“I remember that day coming back from the doctors and just being in shock and thinking, gosh, what does this all mean? You think about your own immortality… am I going to be around to watch my children grow up, or my child at that point, and am I going to be able to have more children? You just don’t know.

Jennie Wiggington and her sons
Jennie and her sons, George and Austin, wearing her Metafit Footscray business hoodies

“And I’d never heard of it [MPN] before and didn’t know anything about the condition.

“So, you’re just really shocked by it because it took me out of the blue. Suddenly I’m being told I’ve got a blood cancer, and not knowing what the future held,” said Jennie.

“I’m someone who likes to keep fit but I had to balance that as I was concerned because I was at risk of blood clots because of my high platelets.

“Once my blood platelets came down more into range, I felt more comfortable. I was taking aspirin to thin the blood, and the doctor said it was good to keep exercising and moving.”

When first diagnosed, Jennie mentioned to her haematologist that she had been unsuccessful in falling pregnant again. She was told it might be due to her blood condition and to stop trying for the moment.

“I went to a fertility specialist who talked about having cancer as a young person and the implications of different treatments and how they can impact on your fertility,” said Jennie.

“We talked through options about the possibility of freezing eggs, or IVF, stuff like that, but as we were not at that point, we would go down the natural route if we could and see how things go.”

Hydroxyurea successfully reduced Jennie’s platelet count over six months, from May to October 2015. Then, in November, she transitioned to interferon over three months before stopping hydroxyurea because of the implications that can have on a developing baby.

She initially injected herself with the interferon three times a week before the dosage was increased to five times a week.

“When you start that medication, often you get flu-like symptoms and start to feel quite groggy, but luckily it only lasted for the first few days. Your body adjusts and gets used to it. I was advised to take Panadol to help with any kind of aches.

“It was Roferon-A, not the pegylated one, I didn’t move on to that until later,” said Jennie.

“Before we could start trying to fall pregnant again, I had to be clear of the hydroxyurea for three months, so it had all got out of my system.

Jennie Wiggington with her medal for Melbourne Marathon
Jennie competed in the Melbourne Marathon (Half) in October 2019

“I remember the doctors saying not much is known about pregnancy and MPN because not that many people of childbearing age have the condition.

“So it was kind of, ‘we know that you can’t have children on hydroxyurea and we believe interferon is the safest option for you, and the research shows that there’s not an impact on the baby’.

“I guess they don’t know 100 per cent, but it’s the safest form of treatment whilst you’re pregnant.

“But there were still risks of clotting and haemorrhaging and the placenta coming away from the womb. I was told that those were the inherent risks around having another baby.

“It was hard because we’d had our son. Did we just say, ‘that’s it, we’re done, and we’re not going to risk it?’ because the risks weren’t just for the baby, but potentially for me as well because of the blood clotting.

“We just took each step at a time and listened to the advice from the specialist doctors,” said Jennie.

“We got pregnant again in August 2016. Because of my blood condition, it was deemed as a high-risk pregnancy and I was under the care of specialist doctors.

“I was getting the best advice and care with lots of support, regular appointments, and monitoring.

“They picked up very early on, when I was about six weeks pregnant, that my thyroid levels were through the floor and in the danger zone for the baby developmentally.

“I had to go on thyroxine. They don’t know if the interferon had impacted my thyroid and damaged it, which it can apparently do, or whether I got Hashimoto’s disease, which is hereditary – my sister and my aunty both have it. Or it could have been brought on by pregnancy,” said Jennie, who continues to take thyroxine.

Mid-way through her pregnancy, with the blessing of her doctors, the Wiggintons went back to England for a month and a family Christmas. Jennie and Russell had migrated to Australia in 2010.

“I just had to make sure I had all the medications with me,” said Jennie.

She took an anticoagulant (blood thinner) before, during and after each flight, to minimise the risk of blood clots, and she drank lots of water.

Wiggington Family in New Zealand
Holidaying in New Zealand in July 2018 – Russell and Jennie with George and Austin

All in all, Jennie’s pregnancy went well, and her obstetrician said she had done ‘amazingly well’. To minimise the risks during labour, the decision was made to induce her in the 39th week.

“Then nothing happened for 24 hours and, as I wasn’t dilated enough and the baby’s heart rate dropped, they did an emergency caesarean.

“He had some low blood sugar, because he was quite little when he was born, and had to go into special care for a few days until his blood sugar stabilised.”

George was born in May 2017, “a fine, healthy baby boy”, and Jennie and Russell, who had always hoped to have two children, and feeling lucky nothing major had happened, decided “enough’s enough, we’ll finish on a good note”.

Jennie continued her interferon medication until she heard that pegylated interferon [Pegasys®] become available on the Pharmaceutical Benefits Scheme.

“I went straight to my haematologist saying, ‘I’d like to try this’. I started on a low dose and that’s what I’ve been on since.

“It’s been great because it means now I only have to inject once a week rather than five days a week and have no ill effects from it. It’s just been a revelation, really, in terms of treatment for the illness.

“I never had any horrible side-effects on Roferon-A,” said Jennie, but she used to have “really bad itching” which was worse in winter when her skin was dry.

“I’d scratch so bad I’d bleed on my legs and on my tummy, but that’s gone for me now. I don’t know if it’s the pegylated interferon, or if it’s changing hormones or the environment.”

Jennie self-injects the pegylated interferon into the fatty subcutaneous area around her stomach.

“Sometimes, I inject into my leg, just to give my tummy a bit of a rest.”

Over the course of Jennie’s experience with MPN she has gone from seeing her haematologist every two weeks, to once a month, then six-weekly, and now it’s every three months.

When she spoke to MPN News Jennie had just received her latest results.

“My platelets were the lowest since I was diagnosed and only very slightly above the normal range which is really good.”

In June, Jennie asked to have her bone marrow tested again even though this is not usually done unless there is a change in presentation or bloods.

“Overall, it looks like the scarring has got worse since five years ago, but he [her haematologist] said it’s hard to decipher if it’s the progression of the disease or the impact of the interferon.

“As everything else looks good and there are no blast cells present, the decision was to carry on as normal.

“The only other options would be to go on ruxolitinib [Jakavi®] or a stem cell transplant but we decided, neither at this point.”

Jennie said she had been affected by “really bad headaches again”.

“Automatically, I go back to the worse-case scenario in my head, what’s wrong, something’s happening. Am I going to have a stroke because I have a blood clot or is the condition getting worse?”

“I’ve got a really good GP. She’s really thorough. She sent me for MRIs and referred me to the neurologist.

“I think it’s just about trying to keep a level head and also listening to your body.

“We’ve recently moved and had a lot of changes and I think it’s also about being kind to yourself and taking a bit of time out.”

In early-July, the family moved from Melbourne to rural Woodend where they have a “massive garden and a view of Mt Macedon”, and there’s been a new addition to the family, Monty, a kelpie puppy.

Since COVID-19, Jennie has worked her three days of social work a week from home rather than driving the hour into Melbourne, and she has moved her fitness business online and is training her clients from a distance. She keeps fit by running most days “for fitness and to clear your head”.

“I don’t let it [MPN] control me or dictate who I am or what I am, but sometimes I need to remember that I have this condition, and I do need to listen to my body and just slow down and rest, if my body’s telling me to,” she said.

But, as a mum with two young kids, running a family, and working, Jennie said, “it’s a necessity to keep going”.

“I do what I can to stay healthy, and ultimately my family is my inspiration.

“I want to be here for as long as I can to be with them and look after them and watch them grow up.

“It’s good to know that support is there if I need it.”

Jennie has joined the Leukaemia Foundation’s coffee mornings and been to the blood cancer conference in Melbourne a couple of times, although with a young family that’s not always easy.

“It takes quite a lot of effort for me to get to those meetings. I need to take time off work and find childcare,” she said.

“I’m on a few of the Facebook support groups. There are people in a similar situation to me, young, and wanting to talk about having babies with the condition. I’ve been able to share my knowledge and experience.

“It’s nice to know that you’re not out there on your own, especially when initially diagnosed, and that there are other people experiencing similar difficulties and that there are great support networks available to help and reassure each other.”

Clinical trials critical to finding curative therapies for MPN

Clinical trials critical to finding curative therapies for MPN

Dr David Ross and others in Tokyo
Associate Professor David Ross, centre, at a conference in Tokyo

Associate Professor David Ross is a clinical and laboratory haematologist who has always had an interest in MPN.  His clinical PhD scholarship in CML, monitoring residual disease, was funded by the Leukaemia Foundation. He is Head of the Clinical Trials Unit at the Royal Adelaide Hospital and Director of the South Australian Cancer Research Bio Bank. In this comprehensive interview he discusses everything from research, current therapies, clinical trials, diagnosis, prognosis, incidence, and more, and says, “it’s a very exciting time in MPN”.

After “almost nothing” by way of new treatments for 20 or 30 years, “there’s just been this massive explosion of clinical trial activity in MPN, said Associate Professor David Ross.

“We’ve gone from a situation where there were basically no new treatments, to one where a dozen drugs have been in clinical trials over the past few years.”

But one of the big issues in MPN remains.

“In CML, we have drugs like imatinib that essentially turn the disease off and, for most patients, ensure that it will never transform to a more aggressive phase, and the patient will never die from leukaemia,” explained Dr Ross.

“Therapies have improved some of the clinical manifestations in MPN, but the drug treatments available don’t change the long-term outcome of the disease.”

Does he see this changing?

“Look, I think it will. There’s been a huge amount of research on MPN in the last 10 or 20 years.”

Dr Ross said his holy grail is “to have a treatment for MPN that is curative, to be able to give someone a course of treatment that completely gets rid of the disease, gets rid of future risk, gets rid of any current symptoms or problems”.

Dr David Ross
Dr David Ross

JAK2 mutation – the key discovery

The JAK2 mutation is found in almost everyone with polycythaemia (rubra) vera (PV) and more than half of people with essential thrombocythaemia (ET) and myelofibrosis (MF).

“That key discovery, first published in 2005, has given scientific insights into these diseases that has spurred a lot of research and development,” said Dr Ross.

“Then there’s the calreticulin (CALR) mutation, found in about a third of patients with ET and MF. This second most common mutation was only discovered in 2013.

“That extra scientific information is a clue for academic researchers and drug companies to start understanding the disease and looking for drugs that can target those particular pathways.

“That’s where the JAK inhibitors came from, like ruxolitinib (Jakavi®), but as people better understand what CALR does, and what JAK2 does, and what MPL [another MPN mutation] does, they may find other targets that might be more effective.”

Next generation sequencing

Another important development was ‘next generation’ sequencing (NGS). Traditional sequencing looks at one small section of a single gene. NGS looks at many different sequences, often in many different genes, all at the same time.

“NGS panels are available for various blood diseases with lots of different mutations. These may test five or six genes, sometimes 30 or 40 genes, so a single test will give you a large amount of information,” said Dr Ross.

“There’s an increased use of sequencing panels to look for not only JAK2, MPL, and CALR, but also other mutations that may be associated with higher risk disease and that currently are most relevant for MF. They are IDH1, IDH2, ASXL1, EZH2, U2AF1, and SRSF2.

“The presence of a mutation in one of those genes increases the risk of MF, and for a small group of patients that’s really essential information, used in guiding transplant decisions.

Sequencing panels may also be useful to clarify the diagnosis.

Dr Ross went on to explain that if someone is intermediate risk, but doesn’t have any bad mutations, that might downgrade that person to being low-risk. Whereas, if someone is intermediate risk and has one or two of those mutations, that might push that person up into a high-risk group where the life expectancy might be only two or three years, and convert them from a watch and wait approach to going straight to a bone marrow transplant.

Dr Ross said this panel test was not currently funded by the Federal government.

“As is usually the case, the Medicare rebate for the test lags years behind research and clinical practice, so individual hospitals are paying for it, or sometimes individual patients pay to have it done privately.”

He said the cost varied from $400 for a small panel looking at the most common mutations in a particular gene, up to $1500 for a more extensive panel that sequenced 30-40 genes.

“But when you think that a bone marrow transplant might cost quarter of a million or half a million dollars, this is a trivial amount of money.”

Each state has different rules about getting tests done.

“In South Australia, everyone with MF who’s been discussed for transplantation would get this done; that’s a small number of patients out of the total MPN population, because MF is the rarest of the MPNs and only 25% or less of MF patients will be transplant-eligible.”

Clinical trials in MPN

Most recent studies have been for myelofibrosis, reflecting it being the MPN with the highest need.

Ruxolitinib was the original JAK inhibitor. Several studies have explored other JAK inhibitors (fedratinib, pacritinib, and momelotinib) on their own, or comparing them to ruxolitinib.

“Different companies are looking to see if one of the newer JAK inhibitors works after ruxolitinib has failed, or offers advantages over ruxolitinib in certain patients,” said Dr Ross.

“For instance, there is some hope that pacritinib might be better in people with a low platelet count, and momelotinib might be better in people with a low haemoglobin.

“Neither has been proven, but these are the questions that are being looked at in clinical trials.

“We currently have a momelotinib study [called Momentum] that is recruiting patients with myelofibrosis who are anaemic.

“The ‘mel’ in the name is because it was originally developed in Melbourne,” he explained.

“It’s already been used in hundreds of patients, so we know that it works.

“Most people on ruxolitinib have a modest drop in haemoglobin; they become more anaemic. It’s been observed that with momelotinib, the drop in haemoglobin is less, and some patients have an improvement in anaemia.

“So, whether momelotinib will offer an advantage specifically in the subgroup of people with myelofibrosis who are anaemic is being explored,” said Dr Ross.

Momelotinib and ruxolitinib both inhibit JAK1 and JAK2. Another study testing fedratinib will try to answer the question of whether there is some advantage to a pure JAK2 inhibitor [it doesn’t inhibit JAK1]. This study will recruit MF patients who have a had a suboptimal response on ruxolitinib, but  is currently on hold due to COVID-19.

The Kartos study opened recently. KRT-232 is an MDM2 inhibitor being tested in MF patients who have failed on ruxolitinib therapy. Dr Ross said MDM2 was involved in the P53 pathway, which is important in lots of different cancers. It’s a quality control pathway within the cell that senses DNA damage and causes the cell to undergo apoptosis [cell death] if there has been DNA damage.

“These are all international studies that include Australian sites,” said Dr Ross.

And there are other drugs in completely different classes that have different mechanisms of action that have been tried in early phase studies.

Australians were among the first patients enrolled on an ongoing study of bomedemstat that inhibits an epigenetic enzyme involved in controlling blood cell production.

“It’s a tablet and it’s shown some improvements in symptoms and spleen size and is generally quite well tolerated,” said Dr Ross.

An initial study of ruxolitinib combined with another class of drugs, called BET inhibitors, showed some encouraging responses. Now a larger study is in the planning stage and may open in Australia in the next six months.

Experimental data suggests navitoclax, which is related to venetoclax, and inhibits another member of the BCL-2 family, may be useful in MF, and luspatercept is being explored to see if it improves anaemia in MF.

The ADORE study is open at several sites for Australian MF patients who are on ruxolitinib and are anaemic. It is a Phase I platform study looking at a series of experimental drugs being added to ruxolitinib. A small number of patients will try each combination and then the results will be reviewed to decide which combination is the most promising, to take it to a bigger study.

“So, it’s a ‘pick a winner’ study,” said Dr Ross.

Studies in PV and ET

Dr Ross said that the first clinical trial in Adelaide for PV closed recently. It was using another MDM2 inhibitor called idasanutlin, “and it definitely works in some people who failed standard treatment”. The study closed due to toxicity concerns.

“The main issue was nausea. You can imagine that if you’ve got PV and you’re going to live with the disease for 10 or 20 years, having a drug that causes nausea for a week every month is not very good for quality of life.”

He also is “quite excited” about an upcoming ET study, also using bomedemstat. The opening of this study has also been delayed by COVID-19 but is expected in late-2020.

“It will be our first ever ET study in Adelaide.”  

“Because we’ve already had experience with that drug, we know that its safety profile is pretty good, so I’m optimistic about that.

“It will be for people who have been resistant to, or intolerant of hydroxyurea, which is the standard treatment for most people with ET.”

Ask about studies for you

“There are many studies for myelofibrosis at the moment – we’ve currently got four in South Australia – and a lot of the time they’re competing for the same rare patient population,” said Dr Ross.

“For companies to test their drugs, they need more patients.

“If we can’t enrol patients in clinical trials, it slows down the development of a drug and means that our patients won’t get normal access to the drugs because it takes longer to do the study properly.

“This is the problem of a rare disease.”

Dr Ross urged patients with MF to be proactive in asking their clinicians about clinical trial options in their city.

“A lot of these studies are open in only one hospital or maybe two hospitals in a bigger city. We need people to be referred to sites where a study is open, so we can put people on them,” he said.

“And they can look on the ClinTrial Refer app or website to see whether there’s anything that meets their particular circumstances.

“A lot of these studies are looking for only a few patients in each hospital, who meet very specific criteria, but if there are five or six studies, there is room for a lot of patients,” said Dr Ross.

The prime target population in MF are those patients on ruxolitinib or who have been on ruxolitinib and have not had an optimal response, and the main focus of these studies is to improve on the benefits already seen with ruxolitinib.

MPN is different from other blood cancers

MPN is a blood cancer, said Dr Ross, “but the way it behaves is completely different from lymphoma or leukaemia, so many people with MPN can go undiagnosed”.

“What sets ET and PV apart from other diseases, is that many people have either no symptoms or vague symptoms, like tiredness, together with blood count abnormalities, which means they may go undiagnosed for some time,” he explained.

“They’re often overlooked for a long period of time. That’s one of the standout features of ET and PV, and the main risk is bleeding and clotting (venous or arterial thrombosis) that can come out of the blue in people who didn’t know that they had an MPN.

“That makes it quite different from most other cancers. You’re not treating a tumour or trying to clear out the leukaemic cells, you’re mostly trying to protect the patient from having a clotting or bleeding episode.

“And the longer you leave it, the more chance there is of having a clot.

“What we know is that some people turn up and they have a clot that could potentially have been prevented if the diagnosis had been made earlier. So, a significant fraction of people with MPN will first be diagnosed when they present with a blood clot or a stroke or a heart attack.

“Sometimes, in those cases, we see someone who comes in having had a high platelet count for three years, and nobody’s done anything about it. So possibly, if that person had received appropriate treatment, he or she might never have had that clot,” said Dr Ross.

He cited the findings of a colleague with a long-standing interest in MPN, Dr Cecily Forsyth. She went back through the records at her centre, at Gosford (NSW), looking at people with a diagnosis of MPN and tracked their haemoglobin, white blood cell, and platelet counts.

“One of the patients had a high platelet count for 20 years before a diagnosis was made,” said Dr Ross.

“The estimated risk of having a clot is about 2% per year for ET, and maybe about five or 10% for PV. Many people, just by chance, will go years without having any problems, but someone’s got to be the one who’s unlucky.

“If someone has blood tests for other reasons and a mildly elevated platelet count is noted, it would often be disregarded if the person is otherwise well.

“In most laboratories, a normal platelet count is 150-450. In fact, your platelet count might be 300 or 200, but the top of the normal range is commonly close to 450.”

What complicates things is that if you are unwell, for instance if you have a chest infection, or if you are iron deficient, your platelet count might go up.

“In young women, in particular, it’s quite common to be iron deficient due to periods or pregnancy, so a slightly high blood count may be disregarded.

“And in an older person who’s got arthritis or other chronic health problems, a slightly high platelet count might be put down to inflammation.

“It’s when there’s a sustained elevation, with no obvious cause, that someone needs to think, ‘well, actually, this has been present two or three times. It needs to be looked into’.”

Myelofibrosis and stem cell transplantation

Dr Ross said myelofibrosis (MF) is completely different from ET and PV.

“Most people with MF feel unwell. They often have severe tiredness, itching, sometimes night sweats, and discomfort from enlargement of the spleen,” he said.

“The main aim of treatment is to lessen the severity of those symptoms, improve quality of life, and make people feel better.

“And, because MF is a more serious disease with a shorter life expectancy, we do bone marrow transplantation for higher risk MF patients who are young and fit, in whom the risks of transplantation are warranted.

“The age limit for transplantation has been continually creeping up over the past decades. Now, for most sites around the country, it’s up to age 70.

“Unfortunately, the risks associated with the transplant rise steeply once you’re above 50 [years old], and the chances of dying from the transplant if you’re nearly 70 are pretty high. The average age at diagnosis of MF is also around 70, so we don’t do very many transplants for myelofibrosis, but it is a potentially curative treatment,” said A/Prof. Ross.

Transplantation is not used for ET or PV because the risk is rarely justified. The treatments for those diseases are about controlling the blood counts and reducing the risk of clotting, but they’re not eradicating the disease or reducing the risk of future progression.

Diagnosis of MPN and its importance

MPN diagnoses are currently based on blood counts, bone marrow appearance, and clinical features, such as itching, sweating and spleen enlargement, said Dr Ross.

“It’s an old-fashioned classification system.”

He said Professor Tony Green’s group in the UK published a “highly influential” paper in the New England Journal on the results a large group of 2000 patients whose MPN was classified based on the results of genomic sequencing.

“They looked at patterns of mutation and showed that the behaviour of the disease and long-term survival could be predicted with some accuracy just by looking at the genes without the traditional pathological classification,” said Dr Ross.

“This hasn’t yet changed the way that we diagnose MPN, but it has emphasised the fact that you can get a lot of useful clinical and biological information from extended sequencing that may add to our old-fashioned classification system.

“And, in some cases where the bone marrow appearance is difficult to interpret, and one pathologist might think it’s ET, and another thinks it’s early myelofibrosis, looking at the sequencing for these difficult-to-classify cases might tell you, well, actually this is more likely to be MF, or actually, this is more likely to be PV.

“The biggest distinction is to identify early myelofibrosis and that’s important because the life expectancy is much shorter, and transplantation might be an option.

“And drug access is determined by having a biopsy that says you have myelofibrosis. You can only get ruxolitinib on the Pharmaceutical Benefits Scheme (PBS) if you have myelofibrosis; you can’t get if you’ve got PV or ET.

“It has been proven that ruxolitinib is effective in hydroxyurea-resistant and -intolerant PV, but it hasn’t been funded [by the PBS] because of the cost.”

“At the moment ET and PV are treated similarly. They both usually get hydroxyurea or interferon plus aspirin.

“The difference is that in PV, we aim to keep the hematocrit, which is a measure of haemoglobin, below 45%, as well as the platelet count and white cell count in the normal range. Whereas in ET, we only look at the platelet and white cell counts.

“Lots of drugs are being investigated at the moment and if any of those make it to clinical practice, the implication of making an accurate diagnosis will become more important,” said Dr Ross.

Incidence and prevalence of MPN

A paper published last year in the American Journal of Hematology based on epidemiology work by Professor Peter Baade reported on the latest available statistics on incidence, prevalence, and survival of MPN in Australia.

“This showed there are 23 cases of MPN per million population per year, so it’s a pretty uncommon disease, but because many people with MPN will live for many years, the prevalence is relatively higher, considering the low frequency of diagnosis,” explained Dr Ross.

“For instance, somebody with ET might live for 20-30 years, whereas for many cancers the survival will be much shorter.

“According to that study, new diagnoses of PV and ET were roughly equal; at about nine per million per year, and primary myelofibrosis is the rarest at about five per million per year.”

Regarding age at diagnosis, Dr Ross said the average age of diagnosis for all MPNs was 68. The oldest cohort, with an average age of 72 years, were those with primary myelofibrosis, and the youngest was ET at 66 years, closely followed by PV at 67.

However, he said, “there’s a tail of younger patients”.

“We see people in their 20s with ET, whereas myelofibrosis is rare below the age of 40.”

“The cause of MPN in most cases is unknown. If you have a family member with MPN, your risk of getting an MPN is increased about five-fold compared to the general population.

“Although it’s not an inherited disease, there’s an inherited risk component. We do occasionally see brothers and sisters or parents and children that both have MPN.”

Dr Ross said there weren’t any known strong risk factors, although there is an increased risk with exposure to radiation and, rarely, to industrial chemicals.

“No-one has ever done a proper, large epidemiological study of MPN risk factors.”

Disease progression and risk

Dr Ross said ET and PV can both turn into MF.

“It’s generally estimated to be something like 20-30% lifetime risk, but that might depend on the age at diagnosis.

“If you’re diagnosed [with ET or PV] at 75, you may never get myelofibrosis. But if you are diagnosed at 30, your risk of getting myelofibrosis might be substantially higher because you’re potentially going to live for another 50 years.

“All three diseases can turn into acute myeloid leukaemia (AML).”

However, Dr Ross said the risk of AML for ET patients is very low, around 2%, and 5% for PV, so it is rare.

“Every now and again it happens, and it is a shock for those people.”

For MF, the risk of AML is 20-30%.

*  Dr David Ross received a Leukaemia Foundation clinical PhD scholarship (January 2006-January 2009, $120,000) for his research project, Characterisation of persistent CML cells in patients treated with ABL kinase inhibitors.

For information about any of the studies mentioned, download the Clinical Refer app on your smartphone and search using the name of a drug or study. 

Improving outcomes for Australians with an MPN 

Improving outcomes for Australians with an MPN 

Photo of Dr Leisl Butler in her lab

Dr Liesl Butler is investigating the gene mutations and biological pathways that lead to the development of MPN and hopes to make significant advances in blood cancer research.

The junior haematologist, based at the Australian Centre for Blood Diseases at Monash University (Melbourne), has a strong interest in molecular pathology and is looking to improve outcomes for Australians living with an MPN.

She is undertaking translational research and was awarded a 2020 Leukaemia Foundation of Australia PhD Scholarship, through the Haematology Society of Australia and New Zealand (HSANZ).

This provides funding of $120,000 from 2020 to 2023 and her project title is Development of improved biomarkers and targeted therapies for MPN.

Dr Butler is working under the supervision of Professor Andrew Perkins, a leading haematologist and group leader at the Australian Centre for Blood Diseases at Monash University.

Working as a clinician, Dr Butler appreciates that research is pivotal to successfully treating the blood cancers and she is excited at the prospect of her research being translated into meaningful outcomes for patients.

“Molecular pathology has had a considerable impact on diagnostic and therapeutic approaches in blood cancer,” she said.

“The area is rapidly expanding and its integration into standard practice is drastically improving clinical outcomes.

“I will study the gene mutations and biological pathways that lead to the development of the MPNs by undertaking tests in patient samples and mouse models,” said Dr Butler.

“Molecular techniques are now critical in the detection, classification and monitoring of many blood cancers, and are essential in the development of new treatment strategies and predicting disease response.

“The MPNs are a challenging disease group which causes significant morbidity and can limit life expectancy; the overall biology of these cancers remains elusive and new therapies are desperately needed.

“Additional research in the field will further our understanding of these cancers and lead to developments in treatment, hopefully improving the lives of patients,” said Dr Butler who is in the early stages of her PhD project.

“I have studied the current literature in the field extensively and begun preliminary experiments. Thus far, the results are very encouraging.”

She was “thrilled” to discover that she had been offered the PhD scholarship, overcoming what she considers the biggest hurdle for researchers; funding.

“I feel privileged to have the support of the Leukaemia Foundation and Haematology Society of Australia and New Zealand for my project,” said Dr Butler.

“And I am incredibly grateful to the Leukaemia Foundation supporters aiding my project.

“I look forward to what I can achieve over the next three years with the assistance of the scholarship and hope to make significant advances in blood cancer research.”

You’re Caring for Carers

You’re Caring for Carers

Being a carer for a loved one who has a blood cancer can be rewarding, stressful, overwhelming and isolating.

Two hands holding a small red heart ornament

Across Australia, more than two million people regularly care for a spouse, partner, brother, sister, parent, friend or child. Their care and support vary, from a couple of hours a day or week, to around the clock.

With the help of our kind supporters, the Leukaemia Foundation has developed an e-learning course, Caring for the Carer to meet the needs of those in this important role. Blood Cancer Support Coordinators have designed and this program especially for carers of people living with a blood cancer.

Not only will completing this online course help carers to recognise and support their emotional and practical needs, it also provides access to all the services, support and guidance that is available to them.

You can explore our Caring for the Carer course here.