Rare Disease Day 2025

Audio only version

Living with a rare disease and championing genomic medicine

Dave McCormick was born with a rare genetic sight condition called microphthalmia, a result of genetic variations. This condition impacted the early development of his eyes, leading to significant visual impairment from birth.

As medical professionals assessed his condition, it became evident that his vision would continue to deteriorate over time. By adulthood, Dave was expected to be fully blind.

Despite these challenges, he pursued higher education, earning a degree in Business Communications from Teesside University and later a postgraduate diploma in Careers Guidance.

Throughout his academic and professional journey, he developed a passion for disability rights and advocacy, which led him to roles supporting individuals with disabilities in employment and education.

Challenges of living with a rare disease

The challenges Dave faced due to microphthalmia extended beyond vision loss.

Dave said: “As a result of microphthalmia, my retinas are irregularly shaped, lenses detached over time, and I later developed optic atrophy, which significantly impacted my sight.”  

As a result, he adapted by using assistive technologies such as screen readers, magnification software, and mobility aids like a long cane.

Contribution and advocacy

Dave added: “My experiences of navigating education and employment with a rare disease highlighted systemic barriers that many others, living with disabilities encounter every day, motivated me to become a Careers Advisor, Education Officer (SEN & Transport), and later a subject matter expert in disability inclusion within the Civil Service.”

His advocacy work focuses on ensuring workplace adjustments go beyond the basic legal requirements of the Equality Act 2010, emphasising the importance of personalised workplace adjustments that cater to individual needs, enabling employees with disabilities to thrive in their roles.

Dave has also taken on national advisory roles within the NHS and Genomics England, contributing to the integration of genomic medicine in healthcare.

As Chair of the Patient and Public Voice Panel for the NHS North West Genomic Medicine Service Alliance, he plays a pivotal role in championing the patient perspective in genomics research and policy development.

In 2017, Dave joined the 100,000 Genomes Project, a groundbreaking initiative aimed at advancing genomic research. Through this program, his genome was analysed to identify genetic markers related to his condition. While he has yet to receive a definitive genetic diagnosis, his involvement in the project has deepened his understanding of the power of genomics in medicine.

Recently, Dave was diagnosed with oesophageal (gullet) cancer with spread to his collar bones.

While managing his health, he continues to advocate for the role of genomics in improving patient outcomes, raising awareness about the connection between genetic conditions and broader health implications.

Poetry, music, in support of health and wellbeing

Dave’s passion for poetry and music has served as a powerful creative outlet, allowing him to express his journey with a rare disease and his reflections on genomics medicine.

His poem, which later became the lyrics for The A, The C, The G, The T, was co-written with his long-time friend and collaborator, Bryan Matthews from the band, The Rayne. The song explores the profound implications of genomics, both its medical promise and the ethical questions it raises.

The title references the four nucleotide bases—Adenine (A), Cytosine (C), Guanine (G), and Thymine (T)—which form the fundamental building blocks of DNA.

The song highlights the growing scientific understanding of how these bases function, how they contribute to rare diseases and cancers, and how advances in genomic medicine are revolutionising healthcare. It also poses deep philosophical questions about the potential of genetic intervention and its consequences.

Stuart Bayliss, Alliance Director, NHS North West Genomic Medicine Service Alliance said: “Dave’s story exemplifies resilience, advocacy, and the power of genomics in shaping modern healthcare. His contributions to disability rights, genomic research, and patient advocacy continue to drive progress in these fields.”

“Through his contributions, music, and poetry, he not only raises awareness but also inspires others facing similar challenges. His journey underscores the importance of inclusive healthcare, workplace accessibility, and the ongoing advancements in genomics that have the potential to transform lives.”

Via their latest single Dave and Bryan hope to raise awareness of genomics medicine’s role in treating rare diseases and cancers, aligning with Rare Disease Day.

Featuring contributions from close friends and family, the song is a testament to the collective spirit of artistic collaboration and scientific curiosity.  A excerpt from the single is available here: The A, The C, The G, The T.  The single will be released on Friday 25th April 2025, available on Spotify, YouTube, Apple Music and other digital music platforms.

Dave and Bryan recently appeared on BBC regional radio, and you can listen to their interview here: https://www.bbc.co.uk/sounds/play/p0kn3kby

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Interview with Catherine Houghton, Lead Consultant Genetic Counsellor

 

Can you introduce yourself and share a little about your background as a genetic counsellor? Hello, my name is Catherine Houghton, and I’m the Lead Consultant Genetic Counsellor at the Liverpool Centre for Genomic Medicine. I have been a genetic counsellor for nearly 22 years. My journey began with a Bachelor of Science degree in genetics, during which I discovered the role of a genetic counsellor and pursued a Master’s in Genetic Counselling in Manchester.

I was part of the first cohort of Department of Health trainees in 2003. My training involved clinical placements and working towards registration, following which I progressed through different roles—from trainee to Associate Genetic Counsellor, Principal Genetic Counsellor, and now Lead Consultant Genetic Counsellor. In my current role, I have a mixed responsibility of 50% clinical work and 50% leadership and management.

What does the diagnostic process typically look like for a patient with a suspected rare disease?

The diagnostic process has evolved significantly since I started in this field. Previously, patients often underwent years of medical appointments with various specialists before being referred to clinical genetics. Diagnosis was slow, and genetic testing was limited.

Now, advances in genomic medicine have improved the speed of diagnosis for many families. Some patients receive genetic testing directly from mainstream medical specialists, such as cardiologists or neurologists, before being referred to us. When they do come to us, we help interpret the results, explain inheritance patterns, discuss reproductive options, and assess implications for family members.

In my role, I see many cancer family history cases, which have also changed with technological advancements. Testing is now more comprehensive, meaning we can offer genetic tests for both common predispositions, such as BRCA and Lynch syndrome, and rarer cancer syndromes. As a result, more families now receive a genetic diagnosis that aligns with their clinical presentation.

When patients receive test results, how do you guide them in understanding their diagnosis?

Much of the groundwork happens at the consent stage before testing even takes place. We discuss the possible outcomes so that patients can make an informed decision about whether they want to proceed with genetic testing. Once a result is given, we cannot take it back, so it’s crucial that patients have had the opportunity to consider the impact in advance.

When delivering results, I try to keep explanations simple, particularly in the first consultation. Patients often feel overwhelmed or shocked, making it difficult to absorb complex information. I focus on ensuring they understand the key implications of their diagnosis for themselves and their family. Since they may need to share this information with relatives, clarity is essential.

Follow-up support is crucial, whether through additional appointments, letters, patient information leaflets, or phone consultations. Patients often recall only a fraction of what is discussed, so providing accessible resources helps reinforce key messages over time.

 

 

Beyond diagnosis, how do you support patients in managing their condition long-term?

A genetic diagnosis can have different implications at various life stages. Some conditions require ongoing medical management, including regular check-ups and screening, while others may not have immediate health implications but will affect future reproductive decisions.

Since genetic conditions often impact multiple generations, our work extends beyond the individual patient. We provide long-term support, whether it’s advising family members, assisting with reproductive planning, or helping patients navigate the emotional impact of their diagnosis. Some patients may not require immediate emotional support but may seek guidance later when facing life changes, such as starting a family or sharing their diagnosis with a partner.

For some patients, we provide one-time consultations and refer them to relevant specialists. However, for many, we maintain periodic contact to ensure they receive appropriate follow-up and screening as their needs evolve.

What does Rare Disease Day mean to you as a genetic counsellor?

Rare Disease Day is an important opportunity to raise awareness about genetic and rare diseases. While individual conditions may be uncommon, collectively, rare diseases affect a significant portion of the population.

Many people are unaware of genetic counselling and the services we provide. Some patients tell us they have been worried about their symptoms for years but didn’t realize they could seek specialist advice. Raising the profile of genetic services ensures that more individuals and families know where to turn for support.

It’s also a vital day for the patient community. While individuals with rare conditions may feel isolated, there are many others facing similar challenges. Events like Rare Disease Day help create a sense of community and ensure that rare diseases remain a priority in healthcare.

What advice would you give to individuals or families undergoing a genetic journey?

Two key pieces of advice come to mind. First, patience is essential. While genetic testing has improved, results can still take time, and the diagnostic process may not be immediate.

Second, never hesitate to ask questions. Genetic information can be complex, and it’s important that patients understand what their diagnosis means for them and their family. If something isn’t clear, it’s always okay to ask for further explanation. Our role as genetic counsellors is not just to provide information but to ensure patients feel empowered and supported in making informed decisions about their health.

Many patients leave consultations with only a partial understanding of what was discussed. It’s our responsibility to explain things in a way that makes sense, but patients should also feel encouraged to seek clarification whenever needed.

Open communication is key to navigating the genetic journey with confidence.

 

 

 

 

 

 

 

 

 

 

 

Interview with Catherine Houghton, Lead Consultant Genetic Counsellor

 

Can you introduce yourself and share a little about your background as a genetic counsellor? Hello, my name is Catherine Houghton, and I’m the Lead Consultant Genetic Counsellor at the Liverpool Centre for Genomic Medicine. I have been a genetic counsellor for nearly 22 years. My journey began with a Bachelor of Science degree in genetics, during which I discovered the role of a genetic counsellor and pursued a Master’s in Genetic Counselling in Manchester.

I was part of the first cohort of Department of Health trainees in 2003. My training involved clinical placements and working towards registration, following which I progressed through different roles—from trainee to Associate Genetic Counsellor, Principal Genetic Counsellor, and now Lead Consultant Genetic Counsellor. In my current role, I have a mixed responsibility of 50% clinical work and 50% leadership and management.

What does the diagnostic process typically look like for a patient with a suspected rare disease?

The diagnostic process has evolved significantly since I started in this field. Previously, patients often underwent years of medical appointments with various specialists before being referred to clinical genetics. Diagnosis was slow, and genetic testing was limited.

Now, advances in genomic medicine have improved the speed of diagnosis for many families. Some patients receive genetic testing directly from mainstream medical specialists, such as cardiologists or neurologists, before being referred to us. When they do come to us, we help interpret the results, explain inheritance patterns, discuss reproductive options, and assess implications for family members.

In my role, I see many cancer family history cases, which have also changed with technological advancements. Testing is now more comprehensive, meaning we can offer genetic tests for both common predispositions, such as BRCA and Lynch syndrome, and rarer cancer syndromes. As a result, more families now receive a genetic diagnosis that aligns with their clinical presentation.

When patients receive test results, how do you guide them in understanding their diagnosis?

Much of the groundwork happens at the consent stage before testing even takes place. We discuss the possible outcomes so that patients can make an informed decision about whether they want to proceed with genetic testing. Once a result is given, we cannot take it back, so it’s crucial that patients have had the opportunity to consider the impact in advance.

When delivering results, I try to keep explanations simple, particularly in the first consultation. Patients often feel overwhelmed or shocked, making it difficult to absorb complex information. I focus on ensuring they understand the key implications of their diagnosis for themselves and their family. Since they may need to share this information with relatives, clarity is essential.

Follow-up support is crucial, whether through additional appointments, letters, patient information leaflets, or phone consultations. Patients often recall only a fraction of what is discussed, so providing accessible resources helps reinforce key messages over time.

 

 

Beyond diagnosis, how do you support patients in managing their condition long-term?

 A genetic diagnosis can have different implications at various life stages. Some conditions require ongoing medical management, including regular check-ups and screening, while others may not have immediate health implications but will affect future reproductive decisions.

Since genetic conditions often impact multiple generations, our work extends beyond the individual patient. We provide long-term support, whether it’s advising family members, assisting with reproductive planning, or helping patients navigate the emotional impact of their diagnosis. Some patients may not require immediate emotional support but may seek guidance later when facing life changes, such as starting a family or sharing their diagnosis with a partner.

For some patients, we provide one-time consultations and refer them to relevant specialists. However, for many, we maintain periodic contact to ensure they receive appropriate follow-up and screening as their needs evolve.

What does Rare Disease Day mean to you as a genetic counsellor?

Rare Disease Day is an important opportunity to raise awareness about genetic and rare diseases. While individual conditions may be uncommon, collectively, rare diseases affect a significant portion of the population.

Many people are unaware of genetic counselling and the services we provide. Some patients tell us they have been worried about their symptoms for years but didn’t realize they could seek specialist advice. Raising the profile of genetic services ensures that more individuals and families know where to turn for support.

It’s also a vital day for the patient community. While individuals with rare conditions may feel isolated, there are many others facing similar challenges. Events like Rare Disease Day help create a sense of community and ensure that rare diseases remain a priority in healthcare.

What advice would you give to individuals or families undergoing a genetic journey?

Two key pieces of advice come to mind. First, patience is essential. While genetic testing has improved, results can still take time, and the diagnostic process may not be immediate.

Second, never hesitate to ask questions. Genetic information can be complex, and it’s important that patients understand what their diagnosis means for them and their family. If something isn’t clear, it’s always okay to ask for further explanation. Our role as genetic counsellors is not just to provide information but to ensure patients feel empowered and supported in making informed decisions about their health.

Many patients leave consultations with only a partial understanding of what was discussed. It’s our responsibility to explain things in a way that makes sense, but patients should also feel encouraged to seek clarification whenever needed.

Open communication is key to navigating the genetic journey with confidence.

 

 

Interview with Eleanor Nicholson, Principal Genetic Counsellor

 

Can you introduce yourself and share a little about your background as a genetic counsellor?

Hello, my name is Eleanor Nicholson, and I'm a Principal Genetic Counsellor based at the Genomic Medicine Service in Manchester. I also serve as the Training Officer for the Scientist Training Programme, supporting those training to become genomic counsellors. I’ve been in Manchester for about five years and have previously worked in the West Midlands and Oxford.

The most rewarding part of my job is working directly with patients and their families. Even when we can't always provide a positive outcome, our role is to support them through challenging times and help them navigate the complexities of their condition.

What does the diagnostic process typically look like for a patient with a suspected rare disease?

The diagnostic process varies for every patient. Genetic Counsellors are involved throughout a patient’s diagnostic journey—sometimes referred to as a ‘diagnostic odyssey’—from conception, pregnancy, infancy, childhood, adulthood, and even end-of-life care. We play a role at every stage of life.

For example, abnormalities might be detected during pregnancy, or a child may develop symptoms suggesting a genetic condition. Diagnosis can take time, often involving multiple steps, from seeing a general practitioner to specialist referrals before being directed to genetics.

As Genetic Counsellors, we provide diagnostic results alongside Consultant Clinical Geneticists. We work as part of a multidisciplinary team, collaborating with specialists in mainstream medicine to help families find answers. Unfortunately, not all families receive a definitive diagnosis, but we continue to support them through every stage of their journey.

When patients receive test results, how do you guide them in understanding their diagnosis?

This depends on when we meet the patient in their journey. I specialize in family histories of cancer, adult-onset neurological disorders, and paediatric neurological conditions. I also work in our prenatal team.

If we are discussing prenatal genetic test results, our role is to support families in making informed decisions—whether about continuing a pregnancy or preparing for any necessary medical care. For families with a high incidence of cancer, we help assess their risks and discuss available screening options. However, not every condition has a genetic test or a screening programme, so we provide guidance and support in understanding those limitations.

Beyond diagnosis, how do you support patients in managing their condition long-term?

In Manchester, we have a genetic register for certain conditions, particularly some cancer-related genes and neurological disorders. This allows us to follow up with patients throughout their lives, offering support as their needs evolve.

For example, patients may return to discuss reproductive options, future planning, or how to communicate genetic risks to their children. One of the key aspects of genetic counselling is considering not just the individual but their entire family.

For conditions without a genetic register, we collaborate closely with specialists in mainstream medicine—such as cardiology, ophthalmology, and neurology—to develop long-term management plans, including recommendations for screening and surveillance.

In addition to medical support, we provide psychological guidance. While we are not therapeutic counsellors, we offer emotional support to help patients process their diagnosis, make informed decisions, and navigate conversations with family members.

We also work closely with charities, both those specific to particular genetic conditions and broader organisations that support individuals with rare diseases. These charities play an invaluable role in providing resources beyond what we can offer in clinical settings.

What does Rare Disease Day mean to you as a genetic counsellor?

When I first trained as a Genetic Counsellor, many people—including my own family—had never heard of this profession. Events like Rare Disease Day are crucial in raising awareness of genetic conditions, our work, and the support available to patients.

Rare diseases often span multiple medical specialties, making care coordination challenging. A cardiologist, for example, focuses on the heart, while a neurologist considers neurological aspects. Rare Disease Day highlights the importance of multidisciplinary collaboration and ensures that people living with rare conditions remain a priority.

What advice would you give to individuals or families undergoing a genetic journey?

The most important advice I can give is to have patience. The journey to a diagnosis can be long and frustrating, and genetic testing is complex. While some families receive results relatively quickly, others may face prolonged waiting times.

We understand how difficult this can be, and we are here to support families through the uncertainty. Genetic counselling is not just about delivering results; it’s about guiding people through the process, helping them understand what their diagnosis means, and ensuring they feel supported every step of the way.

A collaboration in support of Rare Disease Day 2025, by the Whitworth Group and the Manchester Rare Conditions Centre has resulted in a podcast entitled 'Rare Comedy' which will be released on Rare Disease day: ‘Rare Comedy’ – a podcast for Rare Disease Day 2025 – RARE/D

The Whitworth group is listed on the Rare Disease day website and the podcast is in collaboration with Manchester Rare Conditions Centre.