The importance of the patient voice in rare diseases

Lola Cawood explores the patient’s voice in the rare disease space in pharmaphorum’s rare disease themed month.

In Europe, one in 17 of us will be affected by a rare disease at some point in our lives1, though many of us know little about the people affected by this collection of complicated conditions.

New orphan and rare diseases continue to be identified each month and public awareness campaigns are raising their profile both individually and as a group of conditions. Rare diseases bring with them a multitude of challenges. The difficulties in diagnosis, uncertain prognosis, relatively few treatment options and highly-specialised nature make for a rather difficult journey. There is unlikely to be a broad network of fellow sufferers for patients to lean on. Where do they turn for support? How well catered for are their needs? And thinking about patients who are dissatisfied with any aspect of their care: just how do these patients make themselves heard when it comes to treatment decisions? Or is it really the physician who has the final say?

“In common conditions, the patient perspective can often be diluted and lost amongst the numerous HCPs involved…”

In common conditions, the patient perspective can often be diluted and lost amongst the numerous HCPs involved and multiple treatment options to be considered. You would imagine that in rare diseases, the patient perspective is even more likely to be overlooked, as they are few in number and generally less informed, but we have actually seen the opposite. Uncertainty regarding the diagnosis and treatment options amongst physicians allows rare disease patients to be advocates for themselves and their condition in ways that other diseases do not.

Our research has uncovered some interesting case studies which prove that rare disease patients can and do have a voice – and a loud one at that. There are several marked examples of where the patient voice has gained prominence and made a real difference in the lives of affected people.


Case study 1: Amy Hughes; battle for Cockayne Syndrome diagnosis

Amy, from Merseyside, was 15 years old before she received the correct diagnosis of Cockayne Syndrome (CS, affecting 2.7 per million births in Western Europe2). Her symptoms (tremor, visual impairment, thin hair, microcephaly, small stature and photosensitivity, amongst others) mystified physicians for many years.

Her family decided to take matters into their own hands and through hours of painstaking online research and symptom-matching, they began to suspect CS. They then raised the funds for her to travel to Boston, US, to be examined by a geneticist who specialised in CS and other congenital disorders. For the first time, they saw other children that resembled Amy during this trip and sure enough, her diagnosis was confirmed.

Convinced that there must be other children like Amy closer to home, they set up a CS support group called Amy and Friends in 2006. They tirelessly searched for other possible CS sufferers in the UK. To date, they have found over 60 patients globally and brought an end to many families’ uncertainty and worry.

Committed to affecting a positive change in the lives of people suffering from CS throughout the world, Amy and Friends has snowballed into an incredible source of support for patients and caregivers. With the aim of placing patients in clinical trials, it is hoped that ongoing research and development will improve outcomes and the overall experience for patients and their families alike.

“…rare disease patients can and do have a voice – and a loud one at that.”

Encouragingly, there are numerous organizations created by and for rare disease patients for this very purpose: to be part of a movement focussed on improving the patient experience… to foster a sense of camaraderie and partnership. Rare Patient Voice and Rare Diseases Europe (EURORDIS) are just two examples of such organisations.


Case study 2: Fabry and Pompe disease treatment reimbursement in the Netherlands

Fabry disease is estimated to affect 1 in every 40,000-120,000 people3, while Pompe affects 1 in 14,000-300,0004, depending on the geographic area and ethnic group being researched.

In 2012, the decision was made to stop funding expensive Fabry drugs Fabrazyme® and Replagal® and Pompe drug Myozyme® in patient populations that fall outside the infantile / juvenile onset group.5 This decision was primarily driven by the belief that these groups comprise of small patient numbers who experience less severe symptoms: the idea of funding for all Fabry and Pompe patients was not perceived to be cost-effective.

This information was leaked to the media and there was a public outcry, followed by a hearing at the College voor Zorgverzekeringen (CVZ) offices. Such was the protest that the decision was revoked, and these treatments were reinstated for all Fabry and Pompe sufferers. This is one of the few examples of its kind where the combined efforts of a small group of people have challenged and overcome current legislation.


With inspiring examples like these, there is no doubt that some parts of the rare disease community are becoming quite a force to be reckoned with. However, for every success story there is also one of struggle…

“…there is no doubt that some parts of the rare disease community are becoming quite a force to be reckoned with.”

Disappointment with the standard of care offered

“Our families, friends and members of Myeloma UK and the support group have been wonderful. My husband’s employers have been supportive. The actual nurses are very good. The doctors have been at times barely adequate. The public bodies dealing with drug funding and benefits have rarely been helpful and have at times been obstructive and occasionally very offensive.”

Wife of a patient with myeloma6

Sense of needing to work harder than others

“I have to continuously remind my teachers of my needs and fight for them. Basically, I have to be willing to invest more time and effort than any other student to succeed. I feel that rare disease patients have to develop a stronger will than others, be very confident of their capacities and never give up!”

Patient with Aniridia7

Struggling to be given adequate ‘airtime’

“I have never been given an opportunity to talk about my condition with a professional apart from when seeing my consultant in a teaching hospital (usually with 5+ students).”

Patient with palmoplantar keratoderma areata6


It will be quite some time before all rare disease patients can truly say they feel their opinions are taken into account. However the stories of those spearheading change are certainly encouraging for those of us working within the healthcare industry, given our common goal of improving services and outcomes for all patients worldwide.

We are also reminded of the importance of keeping abreast of changes in this field, so that we can all, in part, play a role in change for the greater good.



1. Rare Disease UK (

2. Cockayne Syndrome, Vincent Laugel, MD, PhD, GeneReviews, 2012

3. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey, A. Mehta, R. Ricci, U. Widmer, F. Dehout, A. Garcia de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, M. Ries, M. Beck, European Journal of Clinical Investigation, 2004

4. Pompe Community (

5. Demonstration and remonstration: re-assessing orphan drugs after 4 years of CED, Martin van der Graaff, Pharma Pricing and Market Access Outlook, 2013

6. Rare Disease UK’s annual report 2010 (

7. Rare Disease Europe (EURORDIS;

Further reading


2. European Society of Paediatric Oncology (SIOPE;

3. European Union Committee of Experts on Rare Diseases (EUCERD;

4. Orphanet (




About the author:

Lola Cawood is Head of the Patient Research division at THE PLANNING SHOP international (TPSi)- – a market research-based brand consultancy.

Her Bachelor’s and Master’s degrees in pharmacology gave her a solid foundation for a career in healthcare.

Lola originally joined TPSi in 2004 and for the last 3 years has worked as an Associate Director within the company’s specialist Oncology Research Group.

For the past year, Lola has been fortunate enough to indulge her interest in understanding people in greater depth. She is a qualified NLP practitioner and uses these skills to further TPSi’s capabilities within patient research.

You can contact Lola on +44 (0)20 8231 6888 or at


Caroline Mathie is the Head of the Orphan Disease Specialist Research Group at TPSi.

After studying Medical Bio-chemistry, Caroline spent 14 years at IMS Health, over 10 years as an independent Director-level Consultant and 4 years as a Director at J & D Associates.

Throughout her career, Caroline has had an active interest in orphan diseases. This has led her to develop expertise in a wide range of orphan disease conditions, including various lysosomal storage disorders.

In 2010, Caroline joined TPSi as Lead Research Director and Head of Orphan Diseases Specialist Research Group.

You can contact Caroline on +44 (0)20 8231 6888 or at


Closing thought: How important is the patient voice in rare diseases?