Whats new? A community perspective


Suzanne O'Callaghan is HFA Policy Research and Education Manager

Clyde footbridge
Footbridge over the River Clyde, Glasgow


Plenary – Women and girls with bleeding disorders: clinical and psychological issues
Claire McLintock, New Zealand
Many of us were looking forward to Claire McLintock’s presentation on women and bleeding disorders, knowing that she would bring a fresh perspective, and she didn’t disappoint. Her aim was to challenge the myths and taboos around women and bleeding, so as to clear the way for a new and more constructive approach to treatment and care.
She began by debunking a message about haemophilia that has been common until recently: in the words of a London medical specialist in 1886, ‘It may almost be said that the females hand down the disease, while the males are the victims of it.’ She had three important points to make, demonstrating each from recent research:
  • Both males and females carry the haemophilia gene from one generation to the next
  • For every male with haemophilia, up to 5 females in each family need to be tested
  • Females with the haemophilia gene can bleed too.
Language to describe menstrual bleeding problems is changing in an effort to bring some meaning to women’s experience. McLintock explained that the overarching term ‘abnormal uterine bleeding’ is now used in preference to a focus on specific symptoms with terms such as ‘menorrhagia’ (heavy periods), or ‘polymenorrhea’ (periods that are too frequent). Heavy periods are called ‘heavy menstrual bleeding’, which the International Federation of Gynecology and Obstetrics (FIGO) describes as ‘excessive menstrual blood loss which interferes with a woman’s physical, social, emotional and/or material quality of life’.
McLintock then explored how the taboos associated with women and bleeding have impacted on women’s experience: menstruation has been associated with pollution and in some cultures or religions women who are menstruating have been isolated or prevented from undertaking household tasks such as cooking, or from participating in religious rituals. While this is no longer practiced in most religions now, it has left a legacy of shame and embarrassment around menstruation for girls and women. In contrast, while Maoris and some indigenous tribal groups in California encouraged menstruating girls and women to isolate themselves, they saw the purpose as sacred, when women ‘should not waste their time in mundane tasks or social distractions or concerns about men’ but could take space, to meditate and ‘to find out the purpose of life,’ and devote their energies ‘toward the “accumulation” of spiritual energy’.
She finished her presentation with a call to action around menstruation and women and girls; that there needs to be an approach that is positive and supportive, with concrete campaigns, such as affordable menstrual products. This work is taking place among medical specialists as well. In her final slide McLintock introduced the HOW (Haematology in Obstetrics & Women’s Health) Collaborative, which aims to ‘achieve excellence in health outcomes in women with blood conditions related to pregnancy, birth, gynaecological and reproductive health in Australia and New Zealand.’ There is more information about this very exciting new initiative at https://tinyurl.com/HOW-collaborative
Voices of women: New challenges, different visions
Claire McLintock, New Zealand; Joana Baquero, USA; Karen Fahey, Canada; Paula James, Canada; Richa Mohan, USA
After some short presentations, this session launched into a lively and thoughtful discussion about the barriers to good care faced by women and girls with bleeding disorders and how to overcome them. 
There was consensus that many doctors in the wider community know very little about bleeding disorders and that it can be difficult for a busy doctor to come to grips with the complexities of a bleeding disorder. In this session we heard from both women and parents of girls with bleeding disorders and health professionals (haematologists and a psychologist), which resulted in some honest and constructive tips built from their experience, such as:
  • Sometimes you need to spell things out that you think are obvious. Because even the most well-meaning doctor might not get it sometimes and have no idea.
  • It is complex information and that is why generalist doctors struggle to understand the information quickly.
  • Records are really important form of evidence; carry them with you. But in emergency you need something brief because the doctors and nurses will not be able to read through all the records.
  • It is important to quantify how much bleeding is actually taking place and using tools like the apps, menstrual charts and the Let’s Talk Period self-BAT can be helpful. Also you need to document bleeding carefully, for example, are you changing your pad many times a day because it is full or for hygiene reasons.
  • An effective way of educating doctors is for them to hear the personal stories of women with bleeding disorders as part of their coursework when they are medical students; hearing those stories would make a difference and they would remember it. 
Engaging undiagnosed women and peer support
Emily at the HFA poster
Emily Kempen at the HFA poster
Kate and Suzanne at the NHF poster
Kate Nammacher and Suzanne at the NHF poster on Better You Know
We had submitted a poster about the HFA The Female Factors evaluation and this provided a great opportunity to share our findings and discuss what other bleeding disorder organisations are doing with their women’s programs. Kate Nammacher, an educator at National Hemophilia Foundation, USA, was nearby at the poster display. Her poster was about their Better You Know campaign, which uses online information and questionnaires to find undiagnosed symptomatic women and encourage them to seek testing.  
The Scottish Haemophilia Society/Women's Booth in the trade exhibition offered a welcoming space to explore innovative communication methods for peer support. Kathleen Gerus-Darbison from the USA demonstrated her Clot Not Club project: girls and women with bleeding disorders make dolls who can then speak for them and tell their story (like a puppet). The consensus among the women at Congress was that it is a terrific idea: they thought it was very helpful as the doll could say all the things about your experiences that you don't feel comfortable saying for yourself. 
Kathleen and her dolls
Kathleen and her Clot Not Club dolls
When to assess?
Paul McLaughlin, United Kingdom
With prophylaxis treatment, gene therapy and some symptomatic women reclassified as having mild haemophilia, many more people in the bleeding disorders community now effectively live with ‘mild haemophilia’.
Paul McLaughlin, a haemophilia physiotherapist at the Royal Free Hospital in London, looked at some of the musculoskeletal issues for people with mild haemophilia. Many people with mild haemophilia do not attend HTC reviews regularly or even return for their results after an MRI. He described case studies where his patients with mild haemophilia did not recognise that they had had a bleed and did not seek help from the Haemophilia Treatment Centre until some weeks later, by which time they had muscle and possible nerve damage. McLaughlin highlighted the importance of taking a helpful approach to these late presentations, using them as an opportunity to encourage patients to come in earlier and educating them about bleed symptoms and management. 
Generally people with mild haemophilia show some subtle joint changes as they age, but it can be difficult to know what relates to bleeds and what to the normal process of ageing. McLaughlin pointed out the need for more research in this area. 
While a musculoskeletal assessment will be most effective if it is done early, it needs to be part of a reciprocal relationship between the health care professional and the patient, where the patient can see the value of attending the HTC regularly, for example, learning how to manage both minor and major bleeds and improving their quality of life. New generations on prophylaxis treatment – who may not have experienced bleeds in their lifetime – may have a similar inability to recognise bleeds and know how to manage them as someone with mild haemophilia and it would be valuable to rethink treatment approaches to take this into account.
Chair : Susan Cutter, USA
I was impressed by a number of Congress sessions that tackled issues head-on and asked some frank and confronting questions. This session on adherence was particularly interesting.
Psychosocial strategies: Access, adherence and attitude
Susan Cutter, USA
Drawing on her nearly 20 years’ experience as a haemophilia social worker at the University of Pennsylvania Medical Center, Susan Cutter looked closely at attitudes to adherence and the impact of new extended-half-life (EHL) treatments. She noted that non-adherence to treatment is common in chronic illness, with studies showing that individuals with chronic illness adhere to their medical treatment only 50% of the time. However, to avoid bleeds and negative outcomes, a person with haemophilia needs to adhere to their treatment more than 80% of the time.
EHL treatments have created new challenges, with more complex medication schedules and older people reluctant to give up their existing prophylaxis (‘If it’s not broken, don’t fix it!’). Nevertheless, the annual bleeding rate is lower with EHLs at each level of adherence. 
It is well-recognised that adherence decreases in teenagers, while at the same time risk-taking and the desire to be like their peers increases. Understanding what motivates them to adhere to their treatment is crucial. Recent studies have shown that they are more likely to adhere if they:
  • Understand and accept their haemophilia diagnosis and treatment
  • See treatment as a way of avoiding pain and preventing symptoms and arthropathy
  • Have mastered self-infusion skills and have confidently established treatment routines/habits.
Cutter’s adolescent focus groups also suggested that motivation could be fostered by:
  • Teasing out benefits for them personally (‘what’s in it for me?’)
  • Considering financial incentives (but they need to be adherent to be in the pool for rewards)
  • Group/team activities for adolescents with haemophilia
  • Encourage habits – adherence is more influenced by habit than intention
  • Present it as an opportunity to serve as a role model/leader. 
Benefits vs. can I be bothered?
Lyndsay Hughes, United Kingdom
Following the lead of Cutter’s presentation, Lyndsay Hughes looked more closely at the psychology of adherence. She noted that there are two different types of non-adherence, but both can occur with the same person:
Unintentional non-adherence (doses are usually forgotten or taken incorrectly by accident) – forgetting dose, infusing wrong dose, difficult venous access, failing to plan to ensure enough factor is available.
Intentional non-adherence (a decision is made not to take all of the doses as prescribed) – skipping doses, not infusing at the correct time, relying on on-demand treatment.
Difficulties with administration is associated with worse adherence, and can involve difficult venous access, pain, lack of time, or inconvenience. Older adults also have the lowest rates of non-adherence – a finding that was also noted in the Australian AHCDO prophylaxis study (reported in the December 2017 issue of National Haemophilia), where non-adherence peaked in the 30-39 year age group. Hughes speculated that this might be related to the change from on-demand to prophylaxis treatment. 
Ironically what appears to be ‘common sense’ to someone on treatment could undermine their adherence. Hughes pointed to perceptions such as thinking that treatment doesn’t make much difference; or that they don’t need to keep taking factor if they feel like their bleeding is under control; or that haemophilia doesn’t really affect them anymore. Appropriate education is clearly required, but understanding and working with their personal goals is equally important. Hughes also suggested using personalised medicine to link outcomes with their behaviour, for example, using PK (pharmacokinetic) graphs to identify when infusions should be timed.
The patient's preference
Andrew Selvaggi, Australia
Andrew and Trish
Andrew Selvaggi and his wife Trish
Andrew Selvaggi, a well-known community advocate and personal trainer from Melbourne, was the final speaker and gave some insight into how things work from the patient point of view. Diagnosed with inhibitors at two years of age, Andrew spent his youth in a wheelchair, overweight and in a great deal of pain. When he moved to the adult HTC, he decided to make radical changes to his health and fitness and started exercising on an exercise bike, and put together an individualised program of resistance and cardio training with his HTC, along with a new treatment plan. This was an extremely challenging time for him, his family and his medical team, when exercising meant more pain and bleeding. He was determined to continue, and as his fitness increased, his quality of life was never better. He became a full-time personal trainer and reduced his bleeds.
He acknowledged that the pressure he put himself under made him a ‘challenging patient’ and that at times he pushed himself a little too hard. As a result he had an ankle fusion and knee replacement. In another presentation later in the Congress Andrew explained more about his personal journey – that his experiences with orthopaedic surgery led him to accept his physical reality and to make further changes in his life so he could have a longer-term future with his fitness. Now he has moved from being a full-time physical trainer to helping others with bleeding disorders in their sports and fitness programs; but is still training himself.
What is most important to Andrew for adhering to his treatment? His medical team had to know what motivated him and would keep him going. He wanted to keep up with school, and go out with his friends; and now is looking forward to continuing his work in sports and fitness. His message to HTC teams about motivating their patients? Find out what they want out of life, and what would make them live life to the fullest.



Gene therapy presentation
Prof Alok Srivastava explaining the emergence of gene therapy

Plenary – Hemophilia Gene Therapy: From Trailblazer to Gamechanger
Thierry van den Driessche, Belgium

Gene therapy was a hot topic at Congress and Professor van den Driessche’s presentation was an extraordinary effort to make very complicated science accessible to the audience. His main message: ‘Gene therapy for haemophilia holds great potential but issues remain.’

Firstly, he noted that gene therapy is restricted to the patient who undergoes it; it doesn’t affect the sperm or oocyte and so any children the patient has after treatment will still inherit haemophilia by the usual pattern.

He explained the attractiveness of using of viral vectors such as AAV (adenovirus-associated viral vector) to transport the new gene into the body: they are very efficient and there is no chance of viral infection in the way the viral vector is used. Clinical trials have now begun to establish the efficacy of these vectors in treating factor VIII and IX deficiency (haemophilia A and B), but how long the response will be sustained is still a question-mark – will it be life-long? – and the longevity of the response will be under investigation for some years to come. There is also the issue of pre-existing immunity to AAV in many people with haemophilia. Will this treatment work in this group, or be applicable to children or people with inhibitors? The immune response is also a safety issue with gene therapy using AAVs and currently steroids are used to stabilise the immune response. What is needed is a ‘a stealth-style AAV’ to suppress the immune response, said van den Driessche, using an image of a stealth bomber as a tongue-in-cheek metaphor to illustrate his point.

What is in the pipeline for gene therapy? There are at least 6 clinical trials of gene therapy for factor VIII at the moment, using a range of transporters, commented van den Driessche. He went on to discuss the studies of lentiviral vectors, a promising technology, which has the potential to sustain factor expression long-term since these therapies are directed at the liver and pre-existing immunity is not an issue.

In a way van den Driessche’s presentation characterised the 2018 World Congress: incredibly hopeful, excited, but cautious – the world of haemophilia treatment is changing enormously but we still need to understand how this will play out in the real world.


Suzanne O'Callaghan was funded by HFA to attend the Congress.

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