What is a Rare Disease? 

Every year Rare Disease Day raises awareness for the 300 million people worldwide living with a rare disease. In medicine, there’s a well-known saying: “When you hear hoofbeats, think horses, not zebras.” It reminds doctors to look for common conditions first because, after all, zebras are rarer than horses. However, for many living with a rare disease, this approach can lead to missed or delayed diagnoses.

Rare diseases affect fewer than 1 in 2,000 people, but collectively, over 6,000 rare diseases impact millions.  Among them is Polycystic Kidney Disease (PKD), a genetic disorder that causes cysts to grow primarily in the kidneys, often leading to kidney failure. In fact, 72% of rare diseases are genetic, highlighting the importance of research into conditions like PKD.

This includes both ADPKD, which typically affects adults, and ARPKD (Autosomal Recessive Polycystic Kidney Disease), a rarer form that affects babies and children. Both types share the need for increased awareness and support, emphasising the critical role of research in improving the lives of those impacted by these conditions.

The Challenges of Living with a Rare Disease

For many people with rare diseases, the journey to diagnosis and treatment is filled with difficulties, including:

Delayed or Incorrect Diagnosis – Many rare diseases, including PKD, share symptoms with more common conditions, leading to misdiagnosis. Without accurate identification, treatment is delayed, worsening health outcomes.

Limited Research and Treatment Options – With thousands of rare diseases and relatively small patient populations, research is often underfunded. This means fewer treatment options and, for many, no cure. In PKD, while treatments like Tolvaptan exist to slow cyst growth, there is still no cure. The newly published ADPKD KDIGO guideline provides updated recommendations for managing Autosomal Dominant Polycystic Kidney Disease (ADPKD), offering hope for better treatment strategies. 

Barriers to Healthcare – Accessing specialist care, treatments, and clinical trials can be challenging due to geographical and financial barriers. Many patients face high medical costs and difficulties finding doctors familiar with their condition.

Impact on Daily Life – Rare diseases are often chronic, progressive, and disabling, affecting not just physical health but also mental well-being. Patients and families experience significant emotional, social, and financial burdens.

Why Rare Disease Day Matters

Rare Disease Day shines a light on these challenges, advocating for better healthcare, increased research funding, and policies that improve the lives of those affected. The campaign aims to ensure equitable access to diagnosis, treatment, and support systems.

PKD Charity supports Rare Disease Day by raising awareness of PKD and other rare kidney conditions. We believe that by joining forces globally, we can drive progress towards better treatments and, ultimately, a cure.

How You Can Help

• Raise Awareness – Share this article or post on social media using #RareDiseaseDay and #PKD.
• Support Research – Donate to charities funding research into rare diseases like PKD.
• Advocate for Change – Encourage policymakers to prioritise rare disease research and healthcare access.

Get the Rare Disease Day Supporter Materials 

Help make a difference for those living with rare diseases, Friday 28th March and beyond!

If you would like to speak to us about what support we can offer you or a loved one, please visit PKD Support or contact us today and speak to a member of our team.

Stay up to date with PKD Charity events, patient stories and research news as it happens by signing up for our free e-news or printed newsletter.

PLEASE DONATE