Myelofibrosis in young people – Carly Pierce’s treatment with a stem cell transplant at 33 years old
Carly Pierce is an anaesthetic speciality registrar. At 25 years old she was diagnosed with myelofibrosis, and eight years later she received a haplo stem cell transplant. Here, she describes the challenges of that treatment and gives an insight into some of the issues faced by younger patients with the condition
Carly Pierce’s journey towards a diagnosis of myelofibrosis began in 2011 with her noticing that her abdomen felt uncomfortable. She was at medical school at the time and she and her friends, who were practising for their exams, were able to feel a bit of a lump there too.
Unfortunately, Carly’s doctor did not realise there was a serious underlying problem, so Carly’s symptom was not investigated straight away. Because she was feeling quite well, Carly pushed her concern to the back of her mind. Eventually though, she repeated her concerns and a subsequent ultrasound examination revealed that her spleen was very enlarged.
Carly’s friends reassured that she would be fine because her blood counts were normal. “They said it can’t be leukaemia or a blood cancer if all your blood counts are normal. Actually, with blood cancers like lymphoma and myelofibrosis, your blood counts can be normal,” Carly says.
A bone marrow biopsy soon demolished that misconception, bringing an abrupt and unexpected diagnosis: “The person doing the bone marrow biopsy looked at the results and said, ‘It looks like you’ve got some myelofibrosis on your blood film’. It was quite offhand—I think he was just being quite casual because I had a medical background.”
Carly did have a little bit of understanding of the myelofibrosis—she had encountered it in her recent studies—but this was the first time it was properly on her radar: the condition is quite rare in younger people and Carly was just 25. She was shocked because she understood it as a palliative rather than a treatable condition.
When Carly researched myelofibrosis on the internet, she was reassured to learn that a stem cell transplant may be a treatment option, especially for younger patients, and this gave her hope; however, the diagnosis was still very unsettling.
Risk scoring is a key part of the clinical management of myelofibrosis, and in Carly’s case, with her normal blood counts, her disease was thought to be low risk. Carly’s fears that she might need intensive treatment were not realised, and initially, she only needed blood tests every few months.
Carly was given interferon (a biological therapy to stimulate the immune system) for about six months during the first year after her diagnosis. The side effects made her feel unwell, so Carly and her care team agreed that it was not worth the impact on her quality of life, and she stopped taking it.
“Things went from thinking at diagnosis that I was going to have to have quite intensive treatment very soon, to waiting to see what happens. That was quite stressful and took quite a bit of adjustment. You know there’s this big thing that might or will happen at some point, but you don’t know when.”
Carly found her periodic blood tests stressful, fearing that each one would bring news of a deterioration, but because they were spaced as much as six months apart, life generally continued as normal, and myelofibrosis went to the back of her mind. Having finished her medical degree, Carly had started work as a junior doctor, which left her little time to think about her own health concern. However, as time went on, she began to notice increasing tiredness.
“I started losing weight, and my blood count dropped. I started to take ruxolitinib, a JAK2 inhibitor, as my spleen had grown. We tried that for six months or so. But during that time, we started to talk about a transplant too, because I was young and at lower risk [of complications] in having one. So, between 2018 and 2019, we were getting ready for transplant, looking and looking for a match.”
To her care team’s surprise, there was no suitable stem cell donor on the transplant registers, even when they extended their search across Europe. In the United Kingdom, this difficulty in finding a match is more often encountered when a patient is from an ethnic minority group. “In the end, the best match was my sister, who is a half-match. Haplo (haploidentical) transplants are more unusual and riskier because you then have an immune system that doesn’t fully recognise you, putting you at more risk of graft versus host disease (GvHD) and complications from the transplant.”
Carly says that if she had needed a haplo transplant when she was diagnosed, that might not have been medically possible, but fortunately, there have been advances in medical care in the eight-year gap between her diagnosis and her transplant. Carly’s care team had kept her abreast of improvements in treatments, and this gave her hope that the number of options open to her would increase as time passed. “Ultimately though, it was better to just do the haplo transplant with my sister than wait for something that might never happen.”
All transplants carry risks, and Carly was very aware of them. However, she says the risks weighed particularly heavily upon her family’s minds.
Thankfully, the transplant was successful, but it was not a straightforward process. Carly was an inpatient for six weeks in the hospital waiting for the stem cells to engraft. “It took a bit longer, possibly because it was a haplo transplant, but more likely because of the myelofibrosis, I think.”
The transplant, with the intensive chemotherapy before and after it, was exceptionally difficult for Carly. She became weak and unwell and needed many blood and platelet transfusions. She had complications with her liver, with hepatic veno-occlusive disease (VOD), which can occur as a complication of high-dose chemotherapy given before a bone marrow transplant. “I was told that it might progress quickly and become very serious or fatal.” She also had mucositis, making her mouth, gullet and bowel sore, so she couldn’t eat or drink for several weeks. Carly describes those six weeks as “a bit of a blur and very scary”. Throughout, she was on her own in an isolation room but was allowed visits by close family.
Afterwards, Carly was able to leave hospital but needed to return for treatment about three times a week, feeling “wiped out” most of the time: “I don’t think we realised how much of a marathon it would be afterwards. We’d just been thinking about the next step, which was the transplant, and then the next step, which was getting home. Once we were home, I don’t think it crossed our minds that we’d be in and out of the hospital that much for that long.” Furthermore, Carly’s immune system was suppressed, so she had to follow a special diet and drink cooled boiled water to keep safe, as well as having to avoid busy, crowded places like cafes and shops.
The visits to hospitals involved various tests, transfusions, anti-fungal infusions and all sorts of other treatments, Carly says. “That got very monotonous, and it felt a bit like it wouldn’t end. I had some liver GvHD a few months after the transplant, and I was in and out of the day unit with biopsies and things. And that was quite worrying.” These trips were an emotional and physical burden on Carly, and they were draining for her husband too, who had to do his work in a corner of the day unit.
Carly needed steroid treatment for her GvDH, and these made her irritable and extremely hungry. Steroids can cause the fat distribution on the face to change, and Carly was aware of the short-term changes in her appearance with fat accumulating on her cheeks. Another side effect of the steroids was that she became more immune-suppressed, so she needed to be very careful during the winter of 2019.
“It felt like every few months we had a bit of a blip that felt like it could be something quite serious.” After a rollercoaster journey for Carly and her family, the infections and GvDH settled down, meaning that Carly did not need so many blood tests and could switch to video call consultations with her care team when the COVID-19 pandemic began. “I was upset to get a shielding letter because I’d not been able to go anywhere for a year, but I was very grateful that I didn’t need to be in the hospital. That would have been a very stressful time to start the transplant process.”
There was another significant challenge for Carly after her transplant, one that is possibly overlooked in the care of young female stem cell transplant recipients: “I was straight into menopause from the time of the transplant because of the chemotherapy. I had quite bad hot flushes and symptoms from the menopause and felt really uncomfortable. It was quite debilitating, but I wasn’t allowed any hormone replacement therapy (HRT) because of the complications with my liver.
“Ultimately, when I started the HRT, that made a huge difference to my quality of life. I think the problems around menopause are often overlooked slightly, because, in the context of all the things that are life threatening, it’s not an urgent problem, but it did affect my quality of life a lot.”
The significant impact of going through the menopause without being able to access HRT might therefore be something that haematologists need to be more mindful of. Carly was helped through this considerable challenge by an empowering, private support group.
As an often-long-term condition, myelofibrosis perhaps requires different support strategies to other cancers. “Adjusting to the diagnosis and being able to get on with life while it’s a ‘watch and wait’ time is quite difficult, especially as a lot of young patients will be working during that time. The thing I found hard in that waiting period was the few days around appointments. That would bring it back to the front of my mind and I’d feel upset again.
“I didn’t go to any support group during that waiting phase because I felt that I didn’t really have need of it—I was doing quite well, life was quite normal. I thought if I did something like that, then the condition was just going to be more at the front of my mind when I didn’t need it to be.”
Carly is grateful that cancer groups are increasingly cognisant of the needs of patients with myeloproliferative neoplasms, and she hopes that a way can be found to support young patients with the period of waiting and watching.
Conveying the right information in the right way to patients and their families is a constant challenge in healthcare settings before, during and after treatments.
Carly understands that gauging the amount of information that each patient needs is a difficult balance and feels that there were a few things that commonly happen after the transplant that she wasn’t aware of despite reading the patient information that she was given. “I think I probably needed slightly more information on some things. A lot of the information leaflets would say things like you may have a problem with GvHD, you can have skin GvHD, you can have liver GvHD, but I didn’t have much information on what that would mean for my life, and what the treatments might mean for my daily life.”
However, Carly acknowledges that getting the right balance between too little information and too much is a difficult one. “I think it would be easy to be overwhelmed by information in the lead up to a transplant, but personally, I would have felt reassured by knowing a little bit more about the monitoring and treatment likely to be needed after the initial admission for the transplant.”
During her treatment, Carly’s husband, who is not medically trained, would often need to ask Carly to explain things in lay terms because he was worried that he did not fully understand what was going on, but this created an additional burden for her having to explain to a loved one the potential seriousness of new developments in her condition.
For parents who are diagnosed with a serious disease, there is the added worry of how and when is best to share information with their children. “We didn’t really talk to the children about it until it deteriorated and I needed treatment, because we didn’t know whether I’d still be stable for another 10 years or so. Really, up until that point, it hadn’t affected my life at all. And we thought there might be new treatments instead of a transplant by the time I deteriorated.” Keeping the children informed without unduly worrying them was a juggling act for Carly and her husband.
Carly particularly valued the matter of fact but reassuring approach of the doctor leading her care. This meant she was clear about what might come next and what the options might be then.
“As a young person, I find it helpful to know that, yes, there’s uncertainty, but treatments are progressing. The research over the last 10 years is phenomenal. It’s progressed in leaps and bounds. I find knowing about that progress helpful and reassuring.”Carly
Carly has been well enough to work full time from home since a year after her transplant and is now phasing back to some work in the hospital. Alongside this she is able to keep active and particularly enjoys swimming in the sea with her family.
NP-GBL-MML-WCNT-220001 / Date of preparation November 2022 Funded by GSK
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