Patient Story Type: Related conditions

A long road to diagnosis

Emma lives in Lower Hutt with her husband, Jamie, their dogs, and the two international students they look after. She has a big, close-knit family and is the eldest of five. After living in Japan as a student, Emma spent 10 years working as a flight attendant in the United States, before moving to Christchurch and eventually settling back in her hometown.

“When I moved up here, I started working at a home for pregnant teens and young mums. I did that for three years – until I became too unwell.”

It was in the United States that Emma’s health journey began. She was told by her GP that her white blood cell count was low, so she sought out a haematologist, who regularly tested her blood for eight weeks. “They said it was chronically low, but I was otherwise healthy, so they weren’t going to test my bone marrow.”

In 2012, things began to ramp up. “I was working as a flight attendant in Boston, and I developed a necrotising fasciitis inside my neck – flesh-eating bacteria.”

Emma knew her immune system was compromised, so she told the doctors at the hospital and asked if she could have antibiotics for the infection. “That’s not what they did, so it got worse. I had emergency surgery and was put in a coma for two days. I spent a total of nine days in ICU and then was in and out of hospital for the better part of that year.”

During this process, Emma’s bone marrow was finally tested. “They discovered it was myelodysplastic, meaning all the cells in the marrow were odd shapes and sizes. So even the ones I had weren’t working properly.”

Emma’s siblings were all tested to see if they might be a match for a bone marrow transplant, in case she needed one in the future. “But in my mind, that was extreme – I thought, ‘I’m never going to need that!’ And I just carried on.”

Emma and her husband moved back to New Zealand in 2016. They had been providing respite foster care for several children, but after a horrendous bout of the flu and pneumonia, Emma became too unwell and had to give this up. Not long afterwards, she was diagnosed with pulmonary hypertension.

“Over those next few years, I declined severely. I went from being really independent, managing my house, doing the shopping – all of that – to not being able to do anything.”

“I was in a wheelchair and lost sight in both my eyes.”

Emma held out for as long as she could, but eventually she had to give up work.

Finally, in 2020, Emma received an official diagnosis of GATA 2 deficiency, a rare genetic condition that was only discovered in 2011. “There’s perhaps one other person that has GATA 2 in New Zealand. It’s not common at all.”

After years of dealing with constant infections and spending increasingly more time in hospital, an immunologist suggested that Emma try Privigen, an IV antibody therapy. “That was a turning point. Since then, I’ve had it every three weeks and I’ve hardly had any infections on that. It’s remarkable.”

But even with the infections under control, Emma’s health was in bad shape. She had been struggling with breathlessness and was using supplemental oxygen overnight. When her usual haematologist returned from maternity leave in November 2022, their first appointment was not the catch-up Emma had been expecting. “She sat me down and said, ‘If you don’t have a transplant, you’re not going to make it through the year.’”

It was reconfirmed that Emma’s brother was a match, and in April 2023, Emma received her stem cell transplant. She spent four weeks in the hospital recovering, keeping busy with knitting, Lego and podcasts to try and distract herself from how awful she felt.

When she returned home from the hospital, Emma began to struggle, especially as her visits to the day ward became less frequent. “I got really low. I didn’t have a rhythm, and I didn’t have the energy to go out and do normal things. It was winter, and it sort of all just caught up with me – the enormity of it. I’d been in fight or flight mode for so long.”

“To sit with your inner thoughts and have everything around you go quiet – it’s really confronting. There has to be a level of acceptance where you come to terms with your reality, and that you might die.”

During this period, Emma was admitted back into hospital five times for various complications, including a collapsed lung and fluid around her heart.

“It was during one of the returns to hospital that I met Nicki from LBC. And she met me probably at my lowest, or close to it.”

Although Emma wishes she had been referred to LBC earlier in her illness, she’s grateful to have the support from Nicki now. “We have a good yarn. I can text her when I’m going to be in the day ward getting my treatment, and if she’s around, she’ll pop in. She’s very compassionate, and she’ll have suggestions, but mostly she’ll listen.”

Getting hooked in with LBC’s support groups was also a big relief. “During my recovery, although it took a lot of effort for me to go to those support groups, I really prioritised it.”

“A lot of the people at the groups have gone through stem cell transplants or are about to. Plus we’re on a lot of the same drugs, or have the same doctors.”

Emma is now more than a year on from her stem cell transplant, and things are a lot brighter. “I’ve been able to start looking after my nieces and nephews, and just feel like I’m part of things again – I can do things for other people. I’m in the gym most days and I volunteer at the Red Cross.”

On the day I spoke to Emma, she’d just been to a job interview, after two years of being too unwell to work. “It’s pretty exciting to be in a position to be looking at work again.”

And as someone who used to travel for a living, Emma is thrilled that international adventures are back on the cards. “I had resigned myself to the fact I probably wouldn’t get overseas again… But I’ve got a new passport, so the future is bright!”

Day 97

Christchurch resident Bryan is 63 and lives with his partner Ruth. He has two grown-up children and has recently retired from running his own company in the spatial mapping industry. He’s always enjoyed an active lifestyle, getting around on his bike and going for bush walks whenever possible.

A few years ago, Bryan began to notice he was slowing down a bit on his bike but didn’t think anything of it. “I just put it down to age.”

Shortly after celebrating his 60th birthday, Bryan went to his GP for a check-up. “The doctor did a routine blood test, and something was a bit low.” This abnormal result was the first real sign that anything was wrong. After 18 months of repeated blood tests and ruling out other causes, Bryan finally received a diagnosis: myelodysplastic syndrome (MDS).

He started on a chemotherapy drug called azacitidine, which worked well at getting things under control. The next stage of treatment was an allogeneic stem cell transplant. In May 2022 Bryan received the transplant, which used stem cells collected from his son. In the period that followed, everything seemed to be going smoothly – until day 97. Just three days short of the 100-day mark, Bryan’s stem cell graft failed.

“On day 100 you’re normally safe.”

Bryan was due to receive a second transplant at the end of 2022, but devastatingly, he relapsed in November and was no longer well enough to go ahead with it. “The offer of a second transplant was taken off the table.”

In August 2023, Bryan received the life-changing news that his diagnosis had progressed from MDS to acute myeloid leukaemia (AML). “That was when it started to take off, full steam ahead.”

He receives weekly blood transfusions to top up the blood components that his body can’t produce enough of on its own. After being declined funding through Pharmac, Bryan is now self-funding a new drug called enasidenib to treat the AML. While the medication is working at the moment, Bryan is realistic about what the future holds. “This is certainly not a cure. It’s just prolonging the inevitable.”

“The leukaemia is just really racing to go, and this drug’s holding it back. It sort of reminds me of the All Blacks versus South African scrum,” Bryan says. “Eventually, I guess the enasidenib will be the first to move, but at the moment it’s extending my life.”

“If things go wrong, I might only have two or three weeks. You know, they thought I might have three months, and that was probably a month ago.”

Bryan’s biggest supporter through all the challenges has been his partner, Ruth. “She’s been an absolute rock,” he says. “I think sometimes the journey is harder for the partner than for the patient.”

“Things like when you get chemo brain and they tell you something, and it doesn’t stick, and you have to ask again and again. And with the fatigue, you know, she’s just having to get up and do everything around the house.”

LBC has also been there for Bryan throughout his journey. He’s had one-on-one support from Helen, one of LBC’s Christchurch-based Support Services Coordinators, and he attends the Blokes with Blood Cancer group, as well as an online support group for patients receiving allogeneic stem cell transplants.

He’s enjoyed attending LBC events in Christchurch. “They’ll have a morning tea event and have a speaker – it might be a pharmacist, a nurse, or a psychologist. They’ve been good.”

Ruth has also found support through the LBC Support Person Connect Facebook page.

Throughout the difficulties of the past several years, one constant in Bryan’s life has been art. “I’ve been an artist since about the year 2000, mainly working with pastels.”

Over the years Bryan has entered art competitions and had his work exhibited in galleries. Following one exhibition, he had some unsold artworks sitting in his studio. Instead of letting them sit there and collect dust, Bryan had the idea of donating them to the haematology ward. He suggested it to the hospital staff. “I said, ‘Don’t feel like you have to take any of them, and don’t be embarrassed by taking all of them.’ And they took all of them.”

Bryan’s art now takes pride of place on the hospital walls. “They hung them really nicely around the ward. They seem to be universally liked by staff and patients.” It’s a powerful way for Bryan to give back and show his appreciation for the healthcare workers who have looked after him during his journey. “I’m always very grateful for the care that I’ve received,” Bryan says.

Now that he’s retired, Bryan has had more time to spend on his art. At the moment he’s doing some paintings for his son. “It’s reasonably sedentary and I can do it in small goes.”

His focus now is on tying up loose ends and making things easier for his family once he’s gone. He’s planned and paid for his funeral and is sorting through all his belongings. Bryan laughs, “Your kids don’t want your s**t, basically!”

Despite the enormity of what lies ahead, Bryan has held on to his sense of humour and maintains an optimistic attitude. “I’m sort of philosophical and positive in my outlook.”

He’s intent on giving back and supporting other patients who are on a similar journey. “It’s what you put into it that matters. I always support what I can – even if it just makes a difference to one person.”

When talking to Bryan for this story, it was clear he was a man passionate about life and with a deep love for his family. It’s with heavy hearts we share the news that Bryan passed away on February 2, 2024, just before his 64th birthday. Our thoughts are with his partner Ruth, his whānau, and everyone who had the privilege of knowing Bryan.

From the time that Wellington resident Raewyn Moss’s routine blood test came back abnormal to getting in to see her GP – she knew that her doctor was going to diagnose her with polycythaemia vera.

After Raewyn went in for her second round of testing in May of 2014, she began to have an idea of what was going on in her body.

“You get to the blood test place, and they go; oh goodness, this has to go on the urgent courier! At that point, you wonder, what kind of tests am I having?! Of course, then you get back to work and start to google the tests.”

Polycythaemia vera is a form of myeloproliferative neoplasm (MPN). There are two other types of MPNs, essential thrombocythaemia and primary myelofibrosis.

While Raewyn had experienced general symptoms such as fatigue, headaches, and even itchiness before her diagnosis – she classically just put them down to having a busy year. Additionally, as a very active individual, she found her passion for tramping became increasingly difficult.  To begin her journey, she underwent venesection treatments (which follow a similar process to drawing blood) to address her high haemoglobin levels.  It was only after she started to feel normal again, did it click that something had been wrong.

 “I got my perkiness back, and I’m like oh crikey that was clearly what it was.”

Initially, Raewyn was able to be treated with a combination of aspirin and venesections. After about a year, though, her condition changed, and that was when her doctor recommended she try a mild chemotherapy drug known as hydroxyurea.

“Up until then, I kind of just thought that I had a blood condition; that it was nothing to worry about. Hadn’t done a lot of research into it, to be honest, but when someone tells you that you have to go on a chemotherapy medication, you start to take things seriously all of a sudden.”

To find more information on her condition and treatment options, Raewyn began to investigate international advocacy channels, specifically in the United States, the UK and Australia. Since then, working with her haematologist, Raewyn has been instrumental in getting MPNs listed on the New Zealand Blood Cancer Registry.  Additionally, she has applied to Pharmac to fund alternative drug options for those living with an MPN.

Raewyn first reached out to LBC in 2018, when she was organising a seminar for Kiwis living with an MPN. From there, she joined LBC’s Consumer Advisory Board in 2019.

“People think of blood cancer, and they probably think of leukaemia. It is really easy to think of it quite narrowly. When you start to explore it, you realise that it is a bit more than leukaemia, lymphoma, myeloma etc. MPNs were still quite underrepresented.”

Since becoming involved with LBC, Raewyn says she has seen the number of services the organisation offers patients grow and expand. She highlighted the webinar series held during the lockdown in particular, as they provide access to information on various topics that can be re-visited at any time.

Looking to the future, Raewyn hopes to see the access to haematological care spread throughout rural New Zealand. Since most haematologists are based in the larger cities, it leaves those living in other areas of the country in the dark regarding education on their diagnosis. Access to up to date medical information is vital – especially for those living with conditions that may not get the exposure that others do. That is why she says initiatives such as LBC’s that provide essential information to GPs and public health nurses are so important.

“As long as we are supported through agencies such as LBC, we can lead a relatively normal life. We can still continue to give back and contribute to society – possibly even in ways that other conditions can’t.”

 

Fatumata Bah was just three years old when she moved to New Zealand from Sierra Leone. As refugees, Fatumata and her sister had to undergo mandatory health checks, and the results showed she had sickle cell disease.

Sickle cell disease is an inherited blood condition where the red blood cells become sickle-shaped. It’s not commonly seen in New Zealand because it affects people mainly of sub-Saharan African and Mediterranean descent.

Fatumata’s older sister was also diagnosed with sickle cell however neither of the two children knew they were ‘different’ or unwell until much later in life. For Fatumata it was when she was struggling playing netball in primary school.

“I really wanted to go away to a netball competition and I just couldn’t keep up with everyone. It was hard realising I couldn’t play anymore,” says Fatumata.

Like many others with sickle cell disease, Fatumata experiences crises. This is when the sickle-shaped cells block blood flow to an organ often damaging it and resulting in debilitating pain for a few days or even weeks.

It was around the age of 10 that Fatumata says things began to get tough and she realised she was living with a disease.

“I remember waking up my dad in the middle of the night and driving to Starship to get treatment,” says Fatumata.

From then on Fatumata’s health began to go downhill and she found herself in hospital more often.

Because sickle cell disease is not very common in New Zealand, doctors would often think Fatumata  was just having pain episodes and would send her home.

On a trip home to Sierra Leone, the higher altitude and lack of oxygen in the plane triggered a crisis causing a blockage in Fatumata’s spleen making her extremely sick.

“Luckily, it was a big plane and three doctors were on board who treated me 30,000 miles up in the air!” says Fatumata.

After the trip, Fatumata’s doctors realised how unwell she was and she had gall stones removed. Shortly after she underwent surgery to have her spleen removed too.

Currently there is no cure for sickle cell disease and it can cause many serious complications including strokes, increased risk of infection and kidney damage.

Fatumata says becoming so unwell at just 15 years old made her aware for the first time that she was living with a serious disease.

“It was a very depressing time for me and I withdrew from a lot of things in my life. I decided I needed to start making plans for when I had a crisis,” says Fatumata.

When Fatumata’s heath improved after her operations she decided to learn about sickle cell disease and she had an epiphany.

“I realised sickle cell disease was not just happening to me but it was a part of me,” says Fatumata.

Coming to terms with having a lifelong disease was tough for Fatumata but she says it made her more aware of her mortality and she decided to deal with things as best she could.

After finishing high school Fatumata decided to head to Dunedin to study at Otago University.

“I had a terrible year in Dunedin. It was so cold and it was a real reality check for my health. I moved back to Auckland and started planning how to deal with my disease,” says Fatumata.

Fatumata now has contingency plans in place for when she has a crisis and does her best to avoid having one by doing things such as keeping hydrated, ensuring her flu jabs are up to date and taking her medication consistently.

“I have a disability advisor at my university who helps me make plans for a crisis as well as the GP at Auckland University of Technology and I keep a subscription to St John’s Ambulance,” says Fatumata.

“My connection with Leukaemia & Blood Cancer New Zealand has also been so helpful and it’s great having a support system to relieve some stress off me.”

A large part of accepting her disease and trying her best to live well has been the support she has received throughout her journey.

“I’ve been so blessed to be surrounded by anamazing support network,” says Fatumata.

“My family and friends never gave up on me. It was their love and support that made me know I shouldn’t ever give up on myself either.”

For Dehji Akran a friendly hug is enough to send him to hospital in severe pain. Dejhi was born in Nigeria with sickle cell disease and says even with his condition he is blessed and mostly happy-go-lucky.

Sickle cell disease is an inherited blood condition where the red blood cells become sickle-shaped. It’s not commonly seen in New Zealand because it affects people mainly of sub-Saharan African descent.

“I have heard that there are only three people with sickle cell in the Wellington region including myself,” says Dehji who moved to the city in 1999.

Currently there is no cure for sickle cell disease and it can cause many serious complications including stroke, increased risk of infection and kidney damage.

Like many others with sickle cell disease, Dehji experiences crises. This is when the sickle-shaped cells block blood flow to an organ often resulting in debilitating pain for a few days or even weeks.

I’ve had it all my life and was only three or four when I had my first crisis.

“You never really know what’s going to happen. One moment you’re happy and then boom you feel dizzy and then there’s severe pain. It starts with your ankles then travels up your legs and back, up to your neck until you have issues breathing.”

Over the years the 52-year-old has found ways to manage his crises by taking two pain killers and wrapping himself in a duvet.

“I wait for a few hours and then I’m usually okay, but if I’m having trouble breathing I know I can’t look after myself and I go to hospital.”

If a crisis comes on while he is out he says there is very little he can do to manage it, but Wellington Hospital has set up systems for Dehji to help him avoid sitting in A&E for extended periods.

“I don’t need to spend much time in A&E anymore, I go to the haematology ward and they provide me with liquids and usually after two or three days I can walk out of there. I feel very lucky and grateful. I know that I will be ok 99.9% of the time,” he adds.

It was during one of these crises that Dehji lost the sight in his left eye.

“I was in hospital when the back of my left eye began to bleed. The blood vessels in your eyes are quite thin and they were pushing against my retina. “The medication and anaesthesia they gave me to help reduce the swelling made me feel very sick and caused further crises. Eventually my retina broke and I lost the sight in my left eye,” says Dehji.

Recently Dehji noticed his veins are getting thinner, making it harder to get IV lines into his blood vessels. To help him avoid the hospital he drinks eight litres of water a day.

He says the more hydrated he is the less likely he is to have a crisis.

When he was a child Dehji migrated from Nigeria to the UK and received most of his schooling there.

He headed to boarding school for his secondary education before attending university, but his condition caused him to finish much later than his peers.

“Every time I played rugby or did cross country I had to spend the next four days in the sickbay. I had periods of severe sickness during school, which was a huge issue in my education.”

Dehji persevered and graduated from university. He landed a job as a systems test analyst, a career he continued after moving to Wellington.

“My partner and I had our son here in New Zealand. It didn’t work out with her, but I decided to stay and watch the young man grow up. He will be 15 this year.”

Although Dehji’s son is a carrier of the sickle cell gene he is unlikely to experience crises because his mother was not a carrier.

“He just needs to be careful of who he decides to have children with,” Dehji adds.

After deciding to stay in New Zealand Dehji was faced with a number of hurdles.

Not only did he find out he was living in a leaky house, but at the same time he was dismissed from his employment due to his ill health, which has resulted in ongoing legal battles.

Despite his personal difficulties, Dehji likes to have a positive outlook and is actively involved in educating people about his condition.

“Every year I volunteer myself to medical students, so they can see someone with sickle cell and ask questions,” says Dehji.

Dehji says he is grateful because he knows the pain is only temporary. “When crises happen I know I will get through it,” he says.

Expecting the unexpected has become part of everyday life for Auckland mum Dani Noyer. Her three-year-old son Iziyah has a rare blood condition called chronic granulomatous disorder (CGD).

“With CGD some of the white blood cells called neutrophils don’t work properly, so Iziyah struggles to fight off infections,” says Dani.

Ever since he was two months old he’s taken a long time to get over bugs, even with the help of antibiotics.

In January 2013 Iziyah had high fevers after a month of dealing with a tummy bug.

After repeated visits to their GP the doctor ordered an x-ray. It showed Iziyah had pneumonia and an abscess on his right lung which prompted immunologists to test for CGD.

It was an anxious two-day wait for Dani and Iziyah’s father Sia, before they were given the CGD result. Despite doctors’ suggestions to avoid looking for information on the internet, they spent the time finding out everything they could about the condition, which Dani says helped prepare her for the bad news.

With Iziyah’s immune system unable to fight off the pneumonia even with the help of antibiotics, specialists decided he would need surgery to remove the lower right lobe of his lung.

“We were in hospital for a month before he started to improve. Sia was working full time to support us, and my mum helped a lot,” says Dani.

Dani and Sia were told Iziyah would need an allogeneic stem cell transplant to treat his CGD using matched stem cells from a donor in Germany.

“Iziyah’s eight month old sister Kaylee was too young to be his stem cell donor and because Iziyah has mixed Samoan, Dutch and New Zealand heritage finding a match in New Zealand didn’t prove possible,”says Dani.

“Our minds were exploding with information and the pros and cons of Iziyah having the transplant. However, we were told he wouldn’t survive the next infection, so there was only one option,” she adds.

In July 2013 Iziyah began chemotherapy to prepare for his transplant.

It was really hard for people to understand that Iziyah didn’t have cancer, especially when he started having chemotherapy.

She says the children’s journal she received from Leukaemia & Blood Cancer New Zealand helped her keep a record of Iziyah’s progress.

“It’s so easy to forget when there is so much coming at you. It was amazing to have a daily record in the journal during the transplant process to record everything we needed to know.”

At the back of the journal is a special sticker page which Dani used to record all of Iziyah’s treatment, hospital stays and procedures.

“He’s not a child with cancer, so he doesn’t get any beads. That’s why the stickers were so special for him. They mark everything he’s been through,” says Dani.

Dani, Iziyah and Kaylee spent two months in isolation together, while Iziyah went through his transplant. During this time Dani turned to other parents on the ward who were in a similar situation with their children.

It was easier to chat to other parents who knew exactly what you were talking about; it really helped get me through.

In September the family headed back home, which Dani says was daunting.

“It was scary going from 24-hour-care to me being the only person responsible for Iziyah. It was a big adjustment having to be a nurse, mum and housewife. It was a huge shock to the system.”

Along with CGD, Iziyah has another genetic condition called retinal dystrophy, which is causing his eyesight to deteriorate over time. He was first diagnosed when he was eight-months-old. Post-transplant Iziyah’s eyesight got worse leaving him blind in his left eye and with tunnel vision in his right eye.

“No one had seen this before. They thought after transplant his eye condition would stabilise, but it hasn’t,” says Dani.

“Doctors think that the retinal dystrophy might be linked to his CGD because it’s rare to have two genetic conditions,” she says.

“They’re not sure, so our ophthalmologist will be presenting Iziyah’s case at an Australasian conference later this year.”

By April 2014, the family had adjusted to a new normal, and Iziyah was having monthly appointments. Suddenly things began to go downhill.

“His platelet levels dropped from a normal range of about 200 to 30. They transfused platelets immediately, but then his levels dropped even further, like his body was eating his platelets.”

Iziyah was admitted to the paediatric intensive care unit at Starship Hospital with his platelet levels down to 10.

“They took a biopsy from his skin and gut and confirmed chronic graft versus host disease (GVHD) along with autoimmune thrombocytopenia, an autoimmune disease where his platelets were being attacked by his immune system.”

“He was reacting to every platelet infusion they gave him. He had an anaphylactic reaction where his heart rate was high and he was wheezing. They gave him adrenalin three days in a row,” says Dani.

Doctors also found that Iziyah’s haemoglobin levels were dropping, so they transfused red blood cells.

“He was screaming in pain and needed to be sedated, or he risked bursting a blood vessel in his brain. We tried whatever we could to calm him down, but he was so angry because of the steroids,” Dani adds.

Over the next four weeks he was given medication to help treat the GVHD and his platelet levels also improved.

By May the family was back home. To help give Iziyah a boost they decided to attend LBC’s Firefighter Sky Tower Stair Challenge event. They had previously met firefighters who planned on walking 300km from Waitangi to Auckland to support LBC.

To motivate them Iziyah decorated a helmet and the family created a badge for them to wear.

It was inspirational to know we had done something to help keep them motivated.

These days the family of four tries to take each day as it comes.

“The hardest part is the random little things that pop up unexpectedly, but it’s important to just accept it and go with it day by day. It’s also important to get as much support as possible, even if it feels like you don’t need it at the time, you will. It’s good to keep those support networks open,” says Dani.