Rare Disease Day 2026: Improving Access, Awareness & Care

Every year, Rare Disease Day is a reminder of the millions of people whose conditions may be uncommon, but whose journeys are anything but rare.

At HealthNet, supporting people living with rare, orphan and complex conditions is central to what we do.

To mark Rare Disease Day 2026, we sat down with HealthNet’s Rare, Orphan and Complex Commercial Account Manager, Clair Salt-Vowles, to discuss the realities of living with a rare condition, the challenges patients face, and how innovative community-based care is reshaping treatment pathways.

Q1: What exactly is a rare disease?

“A rare disease is defined as one that affects fewer than 1 in 2,000 people.

But while each condition is individually rare, together they are surprisingly common:

• There are over 7,000 recorded rare diseases.

• Around 3.5 million people in the UK are living with one.

• 1 in 17 people will be affected at some point in their lifetime.

Conditions like Cystic Fibrosis, Sickle Cell Disease and Fabry Disease are among the more well‑known examples, but many others remain unfamiliar even to healthcare professionals.”

Q2: Can you tell us about your role at HealthNet and what it involves?

“As the Rare, Orphan and Complex Commercial Account Manager, my role focuses on developing and delivering our therapy programmes for rare and complex conditions.

This means working closely with internal teams to ensure our services meet business goals, clinician needs and – most importantly – patient needs.

I lead structured service reviews, monitor KPIs, identify opportunities for improvement, and support the teams who deliver care. I also maintain strong relationships with external partners, ensuring that we continuously evolve our services.

My 2026 aim is to continue to grow existing services and drive the company in to more complex/high tech service area, in line with the NHS 10-year plan of moving care into the community.”

Q3: From your experience, what are the biggest barriers to accessing rare disease therapies?

“Access is often hindered by several challenges:

• Limited awareness across the healthcare system, leading to delayed referrals.

• Funding constraints, as rare diseases are often not prioritised.

• High development and reimbursement costs, which can slow availability.

• Fragmented care pathways, where patients see multiple specialists but lack coordinated support.

These barriers can make an already difficult journey even more overwhelming for patients and families.”

Q4: What do you wish more people understood about rare diseases?

“That they are far more common than most people realise. Many patients wait years for a diagnosis, a journey that is both physically exhausting and emotionally overwhelming.

The impact stretches beyond health: it affects family life, employment, finances and mental wellbeing.

Patients living with rare diseases deserve the same recognition, urgency and support as those with more widely known conditions.”

Q5: How does HealthNet help improve the journey for patients with rare conditions?

“Our approach is centred on personalised, accessible and safe care. Some of the key ways we support patients include:

1. Tailored therapy programmes built around individual needs.

2. Home delivery of medication – No need for trips to hospital or local pharmacies to pick up treatment, meaning flexibility and enhanced patient experience.

3. Clinical homecare nursing, where specialist nurses visit patients at home to train, support or administer treatment.

4. Improved continuity of care, with reduced travel burden and enhanced quality of life.

I work closely with clinicians through regular reviews, site visits and open conversations, spending time in hospitals to understand their challenges and speaking directly with patients to ensure our services genuinely support them.

Ultimately, our goal is simple: to make treatment safer, simpler and more personalised for every person we care for.”

Spotlight: Paroxysmal Nocturnal Haemoglobinuria (PNH)

PNH is a rare blood condition where blood cells are prone to be attacked by part of the body’s immune system. The process where the red blood cells are destroyed is called “haemolysis” and it is responsible for many of the symptoms of the disease.

Symptoms could include: debilitating fatigue, anaemia, dark urine, abdominal/back pain, trouble swallowing, jaundice.

Treatments help by focusing on blocking the complement system to prevent red blood cell destruction.

“I find working with PNH patients incredibly fulfilling. There’s something very special about helping someone feel more in control of their health and supporting them as they gain confidence and independence.

As a Senior Homecare Nurse, I love meeting people from all walks of life and travelling to different parts of the country. Every day brings something new – whether it’s learning about different therapies and rare diseases or collaborating with various NHS trusts and healthcare professionals. Working closely with patients and their families is a privilege, and knowing I’ve made even a small difference to their lives is what gives me real job satisfaction.

Clinical homecare makes such a positive impact. Patients are more relaxed in their own homes, without the stress or anxiety of hospital visits. Living with a rare disease can be incredibly challenging, and homecare allows for more personalised, one‑to‑one support, giving patients the comfort and confidence of care that’s truly centred around them.” – Leah Dennis, Senior Homecare Nurse

At HealthNet, we facilitate the home delivery of, and support for, PNH medications, along with in-home nurse support – which involves training for self-administration, administration of treatments and patient support calls to address concerns.

To learn more, watch our interview with 2 amazing patients living with PNH below.

Q6: What do you enjoy most about your role? Is there a story that illustrates your ‘why’?

“What I enjoy most is knowing that my work makes a real difference. I help remove barriers, improve access and support pathways that allow patients to live fuller lives.

I value the relationships I build with clinicians and external partners and the variety my role provides – I find it rewarding to work collaboratively to provide services that meet patient needs. Being part of something that truly matters is what motivates me.

One story that really captures why I do what I do involves a patient who had become completely housebound due to their condition. Working with HealthNet, we were able to initiate their treatment at home – something that immediately reduced barriers to care.

What stayed with me wasn’t just the clinical improvement, but the ripple effect it had on their life. Over the following months, their confidence and mobility gradually returned. Eventually, they reached a point where they felt well enough to go back to work, which was something they never thought would happen again.

Seeing how the right support can restore not just health, but independence, dignity, and hope, that’s the reason I do this job. It reminds me that behind every service that HealthNet provide is a real person whose life can genuinely change.”

Q7: What gives you the most optimism about the future of rare disease care?

“There’s a growing awareness of rare diseases now, and it’s bringing attention and funding that simply didn’t exist a decade ago. At the same time, advances in genomics and AI‑supported technology are helping shorten diagnostic journeys in a way we could only hope for in the past.

We’re also seeing a real shift toward genuine patient‑centred care – providing treatment in the home environment, creating smoother pathways and making access to therapies easier. All of this ultimately leads to better experiences and a better quality of life for patients and their families.”

Q8: Why is clinical homecare important for patients living with rare diseases?

“Clinical homecare truly transforms the patient experience. It reduces the disruption to everyday life and takes away the physical and emotional strain of repeated hospital visits.

It also enables earlier access to treatment at times when NHS services are under pressure, and it brings specialist nurses directly into the home – professionals who understand complex therapies and help build real trust with patients.

Ultimately, clinical homecare matters because it delivers safe, specialist treatment right to where patients live. It eases the burden on families, strengthens care pathways, and ensures timely access to the therapies people rely on to maintain their quality of life.”

Pharmaceutical Partner Feedback

Our Rare Disease services are possible thanks to the incredible pharmaceutical partners who develop these life‑changing therapies.

Recently, we spoke with one of our partners to hear their reflections on working with HealthNet:

“We’re very satisfied with the service – it has consistently run to a high standard, and we continue to hear positive feedback from clinicians. HealthNet works pragmatically, moves quickly when needed, and reliably delivers on what you commit to.

What we value most is your reliability. The quality of your nursing support, your ability to help healthcare professionals initiate patients smoothly, and the strong data and reporting you provide all make a real difference.

Overall, we’re satisfied with the support we receive. Communication is good, and the partnership feels collaborative and constructive.”

Q9: How is digital health or innovation changing the rare disease landscape?

“Digital innovation is accelerating progress in several ways:

• AI and genomic sequencing are reducing diagnostic delays.

• Real–world data supports faster therapy development.

• Digital apps and platforms empower patients to track and manage their conditions.

• Remote monitoring enhances treatment adherence and provides early insight into complications.

These tools make care more connected and more responsive to patient needs.”

Q10: Any final reflections?

“There is a recognised need for clearer role definitions within rare disease nursing.

That’s why I’m proud to be supporting a global project exploring Rare Disease Nursing Scope, Roles and Competency.

This initiative aims to strengthen the nursing profession through evidence review, mapped learning pathways and a shared understanding of best practice.

It’s an important step toward improving care not only for patients today, but for generations to come.”

Conclusion

By helping to raise greater awareness of the services available at HealthNet, we hope to create further accessible healthcare options for patients living with rare conditions.  

To learn more about our Complex Therapy services, click here.