On the occasion of Rare Disease Awareness Month in February as well as Rare Disease Day on February 28 we spoke with Helena Baker, CEO and co-founder of the Rare Disease Nurse Network (RDNN). Furthermore, she is a nurse, Clinical Consultant to The MRN (Medical Research Network), and a rare disease patient.

The members of RDNN are rare disease nurses, genetic counsellors, parents to children with rare disease, people that have rare diseases themselves or people who are passionate about making a positive difference.

Note: The statements and opinions contained in the video and the podcast episode are solely those of the speaker.

Video Interview

Podcast Interview

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What is the Rare Disease Nurse Network and what is your mission/vision?

The Rare Disease Nurse Network, or RDNN, aims to enable every person in the UK with a rare condition to have access to a network of specialist nurses who can direct those patients and their families to appropriate specialist care. And what we want to be able to do is to support nurses and other allied health professionals in gaining access to information, shared knowledge about rare conditions, so that the more they know, the more they can share their knowledge, the better care for patients and families will be.


According to your website, your aim is to become the “Macmillan of Rare Disease”. Please tell us more.

Macmillan is a charity in the UK that has made a fantastic job of developing oncology nurses who can treat any cancer patients at any stage of their disease, irrespective of what their specific cancer is. Everybody with cancer has similar needs beyond their specific tumor. And RDNN saw this model of developing nurses who were experts across cancer. We therefore want to develop nurses who are experts across rare disease, who can recognize the similar needs that patients and families have and can then direct and help signpost patients and their families through that diagnostic journey from the point of referral through to diagnosis and then onwards into their treatment and their ongoing management. And having that signposting and care coordination, irrespective of the specific minute details of their disease, is critical to enable people to find their way through their treatment.


What are the tasks of a Rare Disease Nurse, especially given the multitude of rare diseases that are currently known?

We’re still in our early stages and hoping to be able to develop and put into place our first nurse this year. When we get going, we want to enable the nurse, we want the nurse to be able to speed up the patient’s journey. So, from that initial referral through to the diagnosis and onwards into their treatments and disease management, and to speed that up, we know, everybody knows that patients with a rare disease can take about four, an average of four years to get their diagnosis.

I have a rare disease. I got my diagnosis when I was 49 years old, and being able to speed up that journey would make a huge difference. And you can do that by having somebody as a single point of contact. The nurse would be working with all the multiple specialists across the hospital who touch and have impact on rare disease. They would be setting up multidisciplinary clinics and multidisciplinary teams so that they can speed up that communication between departments, between specialists, and about the individual patients.

And a lot of the work is going to be around educating doctors, nurses and the other allied health professionals on the availability of the information there is out there and education on rare diseases specifically, but also about improving networking across the specialties. The nurse is also going to be developing care pathways for patients, ensuring that they have care coordination right from the very beginning of their treatment and from their referral through to their treatments and ongoing management. And that signposting isn’t just going to be for patients and their families, as I’ve said. Critically, it has to be about providing signposting for the health professionals as well because you can’t improve patient care until you improve health professional knowledge.


In your opinion, what is the most important aspect for someone suffering from a rare disease?

I’m biased because I’ve been through it myself, but I can say, my hand on my heart, that care coordination is, for me, the most important thing. Having somebody available who can signpost my journey, who can help coordinate all the myriad appointments that I have would make a huge difference. I’m lucky, I’m a nurse. I know how to work the system, and I’m pretty good at navigating it. But for somebody without those benefits, having someone who can signpost them through and coordinate their care is absolutely vital.


What plans do you have for the upcoming Rare Disease Awareness Month in February as well as Rare Disease Day (February 28)?

We’re planning a series of interviews, and I’m hoping that this can be one of them, that will be with policy makers, with Genetic Alliance, with consultant physicians who are working in rare disease, with rare disease specialist nurses, with patients and their families, so, mums of rare disease patients. And we’re looking to interview them on what they think is important about care coordination and what their experiences of care coordination have been so far. We’re going to launch our first interview on Rare Disease Day, and we will then be delivering one interview a week throughout March and hopefully beyond.


How has the ongoing COVID-19 pandemic impacted your work as rare disease nurses as well as the (quality of) life of rare disease patients?

We know that COVID has had a tremendous impact on health care across the board, but very specifically, the impact on rare disease patients has been massive. Rare disease patients have always had a tendency to be isolated because of their very small numbers. But COVID has massively increased that isolation because they haven’t been able to get to their hospital appointments, to get face-to-face treatments and indeed to get any treatments or hospital appointments through COVID.

The majority of big hospitals, tertiary referral hospitals who look after rare disease patients, have redeployed their staff over the last two years, so staff continuity and consistency has been lost completely. Patients have been referred and then lost to follow-up. Ongoing referrals have failed, and patient care, that continuity of care that is so important in rare disease, has been lost completely. And I think it’s also been lost for the health professionals as well. They’re still reeling and recovering from redeployment, from the massive cuts in available treatments and the therefore immense numbers on the waiting list nowadays. And I think the impact for the staff is as dramatic as it is for the patients in terms of loss of care, loss of continuity and a complete absence of signposting and care coordination.


Many thanks for your time and for the interview.

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