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Turning the tide for rare disease

A celebration of 25 years in advocacy: Tanya Collins-Histed, CEO of the International Gaucher Alliance

In her remarkable career as a patient advocate, Tanya Collins-Histed has given 25 years of service to the Gaucher community. We had the pleasure of meeting with her to learn what led her into advocacy and how she and the IGA are working to close gaps in education, diagnosis, access to treatment and more

Tanya’s daughter’s diagnosis of type 3 Gaucher disease

On 3 January 1996, the course of Tanya’s life would change completely. Her fifteen-month-old baby girl, Maddie, had been clingy for some weeks, and something didn’t seem right. At first, her doctor had thought she just had an ear or throat infection, but she was very quiet and her clinginess suggested she was in pain.

Maddie was referred to hospital for tests, which showed her haemoglobin levels were very low. After further tests, doctors thought Maddie either had a tumour—her liver and spleen were both enlarged—or leukaemia (quite a common misdiagnosis for somebody with Gaucher disease, Tanya says). Maddie was promptly transferred by ambulance to Great Ormond Street Hospital.

Tanya was only 28 and she was overwhelmed with worry; her family had never had to contend with major illness before. “The oncology ward was almost like a conveyor of all these little babies having bone marrow aspirations,” she says. And Maddie was now among them. Bone marrow was taken from her hip and the wait for results began—the hours must have felt like days.

To Tanya’s enormous relief, the consultant said that the test for leukaemia was negative but that Maddie might have a rare disease called Gaucher disease—he would need to do more tests to be sure. These tests brought a diagnosis of type 3 Gaucher disease, a type that has neurological involvement but that is not as severe as type 2. Maddie was just 17 months old.

So began a three-month stay in hospital for mother and baby as Maddie underwent and recovered from surgery. It was an extraordinarily challenging time for Tanya, but she got through it with the support of her family.

“I lived in Great Ormond Street for three months. I lived on the ninth floor with the other parents in bunk beds and queued for the showers in the morning. The nurses would come in and wake you up in the middle of the night if there was an issue with your child.”

The right place at the right time

Tanya’s good fortune was not limited to the excellent support she had from her family. She says she was also lucky to be referred to Great Ormond Street Hospital, with its specialist centre for Gaucher disease, and lucky too that there was a consultant there with a particular interest in Gaucher disease. Not only did that shorten Maddie’s diagnostic journey but it also ensured she had excellent care. For instance, her spleen was so large that it might have burst, so she had a splenectomy, but it was only partial, for the centre knew that a full splenectomy would have accelerated bone disease and neurological deterioration. Just four or five weeks after diagnosis, Maddie started having enzyme replacement therapy too, which really helped, Tanya says. Importantly, the centre’s application for local funding for treatment was granted. All of these factors of time and place contributed to Maddie’s positive outcomes.

As Maddie recovered from her operation, Tanya’s thoughts turned to long-term care. It was a daunting prospect: type 3 Gaucher disease is a chronic progressive disease, and it was impossible to know what lay ahead.

There have certainly been ups and downs with Maddie’s health over the last 28 years; for instance, she was in a wheelchair during her early teens. However, she has done remarkably well after her difficult start to life—with her mother fighting her corner when required. “I got a bit of a reputation at her school as ‘the dragon’”, Tanya says. She was relentless in insisting that Maddie got the support that she needed and was entitled to: “I wanted to make sure that she had access to everything she needed. And then she could achieve anything that she could with her own ability.”

Maddie’s disease may be an invisible disease but its challenges are real. For Maddie these include dyscalculia, short-term memory issues and processing delays. She went through secondary school in the bottom sets but had one-to-one help, which made a great deal of difference, Tanya believes.

“I didn’t wrap Maddie in cotton wool—I would have loved to, but I didn’t. I gave her a lot of tough love. We had a great clinical team, who really looked after her and championed her. As a family, we made sure that she actually had access to every service she needed in order to live her best life… It takes somebody to push and push and push, and it’s exhausting: you don’t get anything unless you ask.”

Challenges related to Gaucher disease are still very much part of Maddie’s life, including ataxia, but she is indeed living her best life. She went to university through an access route and graduated with a bachelor’s of science, and in 2019, she earned her master’s degree. A remarkable achievement for somebody whose survival was never assured. Her relatively smooth journey has allowed Tanya to devote her working life to advocating for the Gaucher community. From the start, Tanya has been clear that she will do this for as long as Maddie remained well.

Tanya and her daughters, Maddie and Skye

Tanya’s life in advocacy

First steps into advocacy

In 1996, when Maddie was diagnosed with Gaucher disease, all Tanya had to inform her was the scientific literature she could find in the library and fragments of information in medical handbooks. The picture they painted was incredibly bleak: it seemed that the most likely outcome was death within the first year.

Tanya realised that she couldn’t be the only person looking for answers, so she contacted the UK association. “It was supportive,’ Tanya says, “however all the members of the association had type 1 Gaucher disease, which is very different from type 2 or type 3. It knew of a couple of families affected by these conditions but didn’t have a strong connection with them.”

Tanya was determined to build a community for families like her own. Several baby girls were diagnosed with type 3 before and after Maddie was born, and from 1997 Tanya brought the families together within the Gauchers Association to form a community that bonded and grew.

“I shared what I had learned with families in the UK association, so they didn’t have to reinvent the wheel, and they knew where to go and what to ask for.”

Tanya’s 25 years as an advocate:

1997: Tanya joined the Gauchers Association as a trustee, to focus on the needs of type 3 patients
2002–2005: Tanya served as the first development manager for Niemann-Pick UK
2005–2018: Tanya served as executive director/CEO at Gauchers Association
2018–2022: Tanya served as a trustee for Gauchers Association
2008–present: Tanya has served as CEO of the International Gaucher Alliance, focusing on the needs of patients with Gaucher around the world

Closing gaps for Gaucher patients around the world

One of the founders of Gauchers Association, Susan Lewis, recognised how the organisation’s experience of setting up specialist centres could help patients in other countries, and over time this has become Tanya’s focus in her work as a patient advocate.

Broadly speaking, people with Gaucher are much better served in the West than in the rest of the world, where there are enormous challenges in terms of diagnosis and accessing treatments. “Many countries are 10, 20 or even 30 years behind the UK in these respects,” Tanya says. She is acutely aware of this disparity, knowing how much of a difference specialist care has made to her Maddie’s life.

“I’d pick up the phone, make an order for treatment, somebody would deliver it and then a nurse would come to do it. I realised very quickly that the rest of the world didn’t look like that. And that maybe I could make a difference to people in countries who probably didn’t have anybody.”

Now, as CEO of International Gaucher Alliance, Tanya is working to close some of these gaps in education, diagnostic facilities and access to treatment around the world. Sadly, there are still many countries where a patient with Gaucher disease will go undiagnosed because of a lack of rare disease education. Sadly, this gap means that children are dying unnecessarily.

“With type one Gaucher disease, if you get treatment and good clinical care, most patients can live a healthy life. But there are children that will never have a future because they’ve been born in a country where there is just no access to treatment.”

The IGA has a network of clinical experts from the West who volunteer their time to educate local HCPs about diagnosing the condition and the options in management and clinical care. The IGA also often encourages local doctors to set up centres and clinics for the condition.

In other countries there might be enough awareness of Gaucher for a presumptive diagnosis to be made but there may still be a gap in terms of diagnostic facilities. Or there might be diagnostic facilities but confirmatory testing may be unaffordable for patients. The IGA looks for solutions to close these gaps too. For example, it often collaborates with pharmaceutical companies who are willing to pay for tests.

There are effective treatments for Gaucher, but, as with so many rare diseases, they are extremely expensive and beyond the current reach of healthcare systems in many parts of the world. The IGA connects patients with the medical teams of pharmaceutical companies that run charitable programmes who may be able to help. Each company has different (and strict) criteria for pathways to charitable access and such programmes can only reach so many patients.

Governments are often not in a position to develop reimbursement programmes, or they refuse to do so. This is a massive challenge for the global Gaucher community: awareness is growing without a parallel rise in access to treatment. This is a pronounced difficulty in countries where intermarriage is common. Different pricing models in different countries are a possible solution and the IGA is looking at how it can work with companies to achieve that.Some governments, particularly in Latin America, have responded to the unmet need for treatment by buying non-comparable drugs for enzyme replacement therapy in Gaucher. These products have not been through the robust regulatory checks used for biosimilars, yet they are being presented as equivalent to them, Tanya believes.

“Patients are being switched from the original product to a non-comparable. That is a massive challenge for us as a community: we are not saying they are bad medicines, but we are saying that our patients should be prescribed drugs that have been through the regulatory pathways to make sure they are safe and effective.”

In other countries, another gap between patients and treatments is logistical, created through the dynamics of war or politics. For example, at the time of writing, there is one little girl living in Afghanistan who is probably eligible for access to treatment through a charitable programme. But the IGA cannot find a route to get the drug into the country. Nobody will take responsibility for it.

“Ultimately, unless we can find a solution, the little girl will die. If she’d been in a different country, Pakistan for example, she would have stood a chance. There is a good level of education and very committed doctors.”

Pakistan, January 2020

Tanya’s hopes for the future

Looking to the future, Tanya says that IGA will persevere in overcoming these enormous unmet needs, tirelessly focusing on the areas of the world where awareness is lacking and infrastructure is weak.

Part of the IGA’s approach will be looking at how regions with shared languages, cultures and political challenges can be empowered to work together more. The IGA already has a regional programme operating in Latin America, Africa and Asia, as well as two in Europe.

Tanya hopes that this regional structure will develop further in the future, and she envisions its volunteer programme as key to that. In countries served by a regional programme, mostly those where there is no national programme, volunteers raise awareness, deliver education and bring people together. It is a little-by-little approach, but it works, and it is a sustainable model that IGA can use to achieve its goals. After all, IGA is a very small organisation: there are only four members of staff and only Tanya works full time.

“That volunteer infrastructure is why we have been able to impact people’s lives so much. For me, continuing to build that is key.”

A meeting of Serbian patients

Tanya in North Macedonia in 2013 for Rare Disease Day

Tanya is pleased that there is ongoing work to improve the standard of care and develop new treatments. The IGA is a sister organisation to the International Working Group on Gaucher disease (IWGGD). “A lot of things we do, like best practice statements and conferences, we do with them.” The two organisations are currently working together to develop international guidelines on the disease. The partnership means that the guidelines will incorporate the input of patients as well as clinicians.

Since the first drug came on the market for Gaucher 30 years ago, there has been a lot of drug development. Currently, three companies are trialling gene therapies, and there are companies looking to develop drugs for the neuronopathic aspects of the disease. If these are proven to work safely, then they may make a real difference to people’s lives; but Tanya is quick to point out that they won’t be available everywhere—they are likely to be available only in the West, leaving those countries with weaker reimbursement systems behind.

“Could gene therapy be the way forward for patients to have a one-off treatment? We don’t know, but it may make a difference to people’s lives. It may mean they don’t need infusions every two weeks; it may mean that type 3 patients have a new therapy that will either halt or slow down the progression of the neurological disease.”

Genetic newborn screening (NBS) is another development that may impact the Gaucher community through identifying that newborns have the condition before it is clinically evident. Such a prompt diagnosis would mean newborns could quickly access appropriate care, and the parents could be connected to the patient community. Tanya predicts that potential future treatments for the neuronopathic patients might need to be administered within a certain time window and that NBS might facilitate that.

The Gardian registry

As a parent and as an advocate, Tanya has encountered and overcome many obstacles, learning lessons from each that she has used to benefit the national and global Gaucher community. But she says that she would like the Gardian registry that she developed with Dr Elin Haf Davis to be her legacy.

Gardian (the Gaucher Registry for Development, Innovation and Analysis of Neuronopathic disease) is a patient-led registry owned by the International Gaucher Alliance. It was designed to collect vital data about how the disease affects type 2 and type 3 patients in their everyday lives. Other registries collect information about the non-neurological aspects of the disease—its effect on the liver and the spleen, for example.

Tanya is passionate about Gardian’s importance, for she has first-hand experience of the importance of patient-reported data in clarifying which endpoints are appropriate to collect. She made the difficult decision to enrol Maddie in a clinical trial in the early 2000s at the age of eight, but after putting her daughter through all of the steps involved, the trial failed. It was an extremely difficult time for the whole community.

“One of the reasons it failed is because the endpoints were wrong: it wasn’t necessarily that the drug didn’t potentially have benefits, it just didn’t show them because of the way the trial was designed. That was always in the back of my mind, so we decided to do the registry and to collect patient-reported data.”

Developed as a labour of love by Tanya and Dr Elin Haf Davis—who was a nurse in the clinical trial—Gardian was designed to answer pharmaceutical companies’ questions when they are developing new medicines for type 2 and type 3 patients. “Companies always ask: ‘What endpoints are we going to use?’ ‘What is the most important thing that patients would want to be addressed by a new treatment?’” Tanya says.

Gardian is designed to answer those critical question through data reported by patients, depending on their age and capacity, and their caregiver. Available in seven languages, it has the potential to capture data from a good spread of the international Gaucher population and understand how the disease progresses without neurological treatment. Tanya hopes that this systematic collection of data will enable clinical care that is targeted at those areas.

Tanya explains: “As our community grows older, we’re seeing new manifestations of the disease, which we don’t understand, particularly around loss of hearing and sight. And that has a massive impact on patients’ lives. So how can we develop services? How can we make sure that those different areas are included in clinical guidelines, for example?

“And we want to be able to look at the information to find endpoints which could be used in clinical trials, and then really demonstrate to regulators that this medicine improves things in patients’ lives that are really important.”

Tanya can surely look back on her 25 years of service with much pride, not least in respect of Gardian, which offers so much potential for the Gaucher community.


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