Life with a rare digestive disorder often means suffering with disabling symptoms for years before receiving the correct diagnosis and appropriate care. Patient advocacy organisations play a leading role in reducing this burden by putting the patient first.
While a disease is considered rare if it affects fewer than one in 2,000 people in the European Union (EU), having one of these diseases is not rare at all. Up to 36 million people in the EU are affected by a rare disease and more than half are children.1
What is a rare digestive disorder?
Many of the almost 8,000 rare diseases identified by the European Commission affect the functioning of the digestive tract and include, for example, Hirschsprung’s disease, chronic intestinal pseudo-obstruction (CIP), achalasia, eosinophilic oesophagitis (EoE), congenital sucrase-isomaltase deficiency (CSID), and short bowel syndrome (SBS), among others.1
Rare digestive disorders can be disabling, and those affected often require a lifetime of care to manage the chronic and often unpredictable symptoms. Bowel symptoms present unique difficulties for both patients and physicians. Bowel functions are not easily discussed, and stigma often disrupts open and honest conversations about the medical and emotional needs of those affected. For children, these conditions pose additional challenges, affecting physical and emotional growth and development, and presenting an ongoing struggle for parents and caregivers to understand and meet the needs of their child.
For example, Michele is a single mother of a child with CIP, a rare disorder of gastrointestinal motility where co-ordinated contractions (peristalsis) in the intestinal tract become altered and inefficient. Describing her experience, she said: “I can’t begin to tell you how many specialists my son had seen in the first five years of his life. His doctors took multiple tests over the years. He was actually misdiagnosed for several years …. Every time I would take him to these doctors, I felt like I was never taken seriously. Each time we would see a new doctor, they would basically say the same thing: ‘We know there is something wrong, but we just don’t know what it is.’”
Michele’s story illustrates some of the difficulties faced by parents of a child with a rare digestive condition. For both children and adults, life with a rare digestive disorder often means a seemingly endless search for answers. Little public awareness exists for most rare digestive conditions, and basic, easy-to-understand information on the symptoms, diagnosis, and treatment of these conditions is largely unavailable. This often leaves patients and family members with feelings of uncertainty and frustration, left to piece together the limited information available to them on their own. Complicating this, few clinicians have experience recognising and managing these conditions, and clinical and investigative experience tends to be concentrated to relatively few, dispersed centres.2
Taken together, this landscape of limited public awareness, patient information, and clinician expertise means patients often face diagnostic delays, sometimes suffering for years or even decades before receiving the answers and care they need. During this ‘diagnostic odyssey’ patients spend an average of six years before receiving an accurate diagnosis and the legitimisation that comes with it, enduring two to three misdiagnoses and the subsequent inappropriate treatment, and undergoing numerous hospital admissions and investigations.3,4 The cost to the patient in terms of wasted time, effort, and resources is immense, and the loss of social and economic opportunities places a tremendous burden on affected patients and their families.5
Patient advocacy organisations have a leading role in identifying and describing the needs of this patient community and developing solutions. They are uniquely positioned to reach patients affected by rare digestive disorders, the general practitioners and specialists who manage their care, and the investigators whose research provides hope for better diagnostic pathways, treatments, and even cures.
How does IFFGD support the rare digestive disease community?
There is growing interest in understanding the patient perspective of living with a rare disease, including a rare digestive disorder, and involving the patient as stakeholder in decisions of public awareness, patient and professional education, and research. Patient advocacy organisations encourage and support this interest by fostering collaborative relationships between patients and their families, clinicians, investigators, manufacturers, and others involved in the research and development of therapeutics for these conditions, and policymakers and regulators in the government.
Founded in 1991 by a single person struggling with the challenges posed by a chronic digestive disorder, the International Foundation for Functional Gastrointestinal Disorders (IFFGD) works to support and assist patients around the world affected by both rare and common digestive disorders. We do this by raising global awareness of the burden these conditions pose and drawing attention to the unmet needs of those affected, by supporting and encouraging research that will improve outcomes, and by meeting the information needs of patients and their families. And, we work to empower patients to take an active role in shaping the future of the care and treatment of these conditions by engaging in clinical trials and other research studies and making their voices heard by regulators and policymakers.
Rare Disease Day 2018
On 28 February 2018, IFFGD joined with rare disease advocates from around the world to focus global attention on the needs of patients and their families affected by rare digestive diseases and other rare conditions during Rare Disease Day 2018. First launched in 2008 by EURORDIS (Rare Disease Europe), this annual event is now observed in more than 80 countries around the world. By observing rare diseases as one, Rare Disease Day organises messaging around the overarching challenges faced by those affected by rare diseases (e.g. the need for disease-specific patient information, limited access to physician specialists and approved treatments, and the lack of funding available for rare disease research), while providing the individual rare disease patient with a broader, inclusive community of activated patients and allies.2,6
The awareness generated by Rare Disease Day provides patients with a much-needed sense of belonging and encourages a greater understanding and compassion for those affected and the challenges they face. For those with rare digestive disorders, this awareness also contributes to the breaking down of stigma and social taboo surrounding bowel symptoms that leaves many socially withdrawn or even isolated, adding to the burden of their illness.
IFFGD is committed to advancing research and empowering patients to be ‘proactive actors in research’ – the slogan for Rare Disease Day 2018. Greater awareness for and understanding of these conditions can only come from research that involves the patient as a key stakeholder. By participating in research, patients learn more about their condition and help to shape the future of the care and treatment of rare diseases.
Barriers to rare disease research
Despite these efforts, challenges to rare disease research persist. The February 2018 Rare Barometer patient survey conducted by EURORDIS found that one-third of rare disease patients have participated in research, but only 18% have participated in research aimed at the development of treatments and therapies. Conclusions of the report interpret this finding to suggest that the number of ongoing research studies into rare diseases are insufficient to address the volume of diagnoses and high unmet needs of this patient population.7 When asked their opinion on what the primary obstacles to rare disease research are, 71% of patients responded they felt a lack of public funding and investment in rare disease research is the main barrier to research.7
Patient advocacy organisations can address these barriers by connecting investigators and centres involved in rare disease research with patients through patient registries, directing funds to rare disease research through specialised awards or grant programmes, and engaging patients and other stakeholders in advocacy with governmental policymakers responsible for future investments for medical research. Perhaps even more important to advancing rare disease research, patient advocacy organisations can provide a space for activated patients to come together and make their needs heard by the medical, research, and governmental communities. That effort helps focus research, health policy, and medical care to meet the real-world needs of patients.
Together, patients and the organisations that help coalesce and concentrate their voices
make changes that ease suffering and lead to better outcomes.
Going forward: creating better futures for patients
Despite the many obstacles facing those affected by rare digestive disorders and other rare conditions, opportunities exist for patient advocacy organisations like IFFGD to create positive change. By putting the patient first, activating and harnessing the dynamic energies and perspectives of all stakeholders, and encouraging and supporting solution-focused collaborations, IFFGD and other patient advocacy organisations can shorten the ‘diagnostic odyssey,’ expand treatment options, and, ultimately, help those affected live their lives, not as rare disease patients but as people with hope for better futures. Standing alongside patients and their families, IFFGD is committed to sharing the needs of the millions of people like Michele and her son, whose lives have been forever changed by a rare digestive disorder.
Together, we can change the rare disease landscape and break down barriers to research and cures.
Our website can be found at https://iffgd.org/
1 European Commission. 2017. Rare diseases: a major unmet medical need. Retrieved from https://ec.europa.eu/info/sites/info/files/rarediseases_p4p-report_2017.pdf.
2 Stoller JK. 2018. The challenge of rare diseases. Chest 153:1309-1314.
3 Limb L, Nutt S, Sen A. 2010. Experiences of rare diseases: an insight from patients and families. Retrieved from https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf.
4 Schieppati A, Henter JI, Daina E, Aperia A. 2008. Why rare diseases are an important medical and social issue. Lancet 371:2039-2041.
5 Kaplan W, Wirtz VJ, Mantel-Teeuwisse A, Stolk P, Duthey B, Laing R. 2013. Priority medicines for Europe and the world 2013 update. Retrieved from http://www.who.int/medicines/areas/priority_medicines/MasterDocJune28_FINAL_Web.pdf.
6 EURORDIS. 2005. Rare diseases: understanding this public health priority. Retrieved from https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf.
7 EURORDIS. February 2018. Rare disease patients’ participation in research: a Rare Barometer survey. Retrieved from http://download.eurordis.org.s3.amazonaws.com/rbv/2018_02_12_rdd-research-survey-analysis.pdf.
This article will appear in issue 6 of Health Europa Quarterly, which will be published in August.