Rare Disease Day 2019 will be putting stories from patients with rare diseases in the spotlight . Held on the final day of February every year, the objective of the day is to raise awareness about rare diseases – diseases that affect less than 1 in 2,000 people in Europe (or fewer than 200,000 people in the USA), of which there are over 6,000 different types [2, 3] – and their impact on patients’ lives .
In preparation for Rare Disease Day, I interviewed Debbie Preston, the office manager at Porterhouse Medical, who has herself received a rare disease diagnosis, in order to gain insight into what it’s like to live with such a condition.
Becca: What is primary sclerosing cholangitis (PSC)?
Debbie: PSC is a chronic liver disease in which the bile ducts carrying bile from the liver to the intestines progressively narrow because of inflammation and scarring. Over time, the build-up of scar tissue and subsequent accumulation of bile within the liver results in further inflammation and scarring, and eventually cirrhosis, portal hypertension and liver failure in some patients.
Diagnosis of rare diseases
Diagnosing patients with rare diseases is particularly difficult because rare diseases are often disguised by common signs and symptoms, and by definition doctors are less likely to have encountered – and are therefore less likely to recognise – rare diseases . It takes, on average, nearly five years for a rare disease to be correctly diagnosed ; for Debbie, her diagnosis took eight years.
Becca: How did your diagnosis with PSC come about?
Debbie: I didn’t have any symptoms, but about ten years ago a private healthcare check showed I had elevated levels of three out of four enzymes in a blood test. For eight years I had regular blood tests and scans, as well as an endoscopy and colonoscopy. I was eventually referred to a liver specialist and underwent an MRI [magnetic resonance imaging] scan. At first, they thought it could be Caroli disease – which is similar to PSC because it also affects the bile ducts – in the lower lobe of my liver, but another MRI scan was done around a year later at a different hospital and showed that the abnormality was in fact throughout my liver, and my diagnosis was changed to PSC.
Becca: What was the worst thing about your diagnosis?
Debbie: Aside from PSC being incurable, my greatest frustrations were the length of time (seven years!) it took to have an initial MRI scan and the misdiagnoses I received in the meantime. I wasn’t officially diagnosed with PSC until May 2016.
Treatment of rare diseases
There is no cure for the majority of rare diseases . This is often due to the lack of knowledge about the diseases and the high costs of running clinical trials and manufacturing drugs for a relatively small number of patients. Where treatments do exist, they are frequently expensive and/or aimed at reducing symptoms rather than treating the cause .
Becca: What treatments are you currently on and what do they do?
Debbie: I know there is no cure [for PSC], as the cause is unknown. I have been put on ursodeoxycholic acid and vitamin D. By thinning the bile passing through my bile ducts, this should help the liver to process toxins and therefore improve liver function, and the hope is that this will help slow down the progression of the disease.
Becca: Since your treatments are for the symptoms, not the cause, how is disease progression monitored?
Debbie: It depends on the extent of disease progression. I am monitored on a six-monthly basis, whereby I have to have full blood tests and scans to check for any changes. If I have any abdominal pain, itching or yellowing of the skin, then I need to let them know straight away, so I am allowed to contact my consultant directly.
Living with PSC
Common symptoms, such as abdominal discomfort, itching, jaundice and fatigue, can make daily life with PSC very unpleasant. Life expectancy is also reduced, which is mostly dependent on the subsequent development of associated cancers, including liver, gallbladder and bile duct cancer and/or the occurrence of liver failure [8, 9, 10]. Despite these challenging realities, Debbie maintains a cheerfully pragmatic outlook.
Becca: How does the disease affect your lifestyle?
Debbie: At the moment thankfully not too much, because – except for tiredness – I do not have any of the common symptoms. I can still drink alcohol, but it is advised not to overload a liver with reduced function and I don’t tend to drink much anyway. Once the disease gets really bad, I will have to go onto the liver transplant list, but I have also been advised that it [PSC] can reoccur in the new liver… Of course, I hope that there aren’t any changes [in disease condition] any time soon.
Impact of Rare Disease Day
At Porterhouse Medical, we are passionate about our work, which includes using our expertise to raise awareness and improve diagnosis of rare diseases, and increase communication between healthcare professionals working with patients with rare diseases. Like many patients with rare diseases, Debbie hopes that Rare Disease Day will lead to greater funding of the search to find the cause of, and subsequently cure for, rare diseases like PSC.
To find out more information about Rare Disease Day, visit www.rarediseaseday.org.
- Rare Disease Day. Watch new patient videos for Rare Disease Day 2019. Available at: https://www.rarediseaseday.org/page/news/watch-new-patient-videos-for-rare-disease-day-2019-2. Accessed February 2019.
- About rare diseases. Available at: https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN. Accessed February 2019.
- National Organization for Rare Disorders. Resources & FAQs. Available at: https://rarediseases.org/for-patients-and-families/information-resources/patient-and-caregiver-resource-center/resources-faqs. Accessed February 2019.
- Rare Disease Day. What is Rare Disease Day? Available at: https://rarediseaseday.org/article/what-is-rare-disease-day. Accessed February 2019.
- Rare Disease Day. What is a rare disease? Available at: https://rarediseaseday.org/article/what-is-a-rare-disease. Accessed February 2019.
- Engel PA, Bagal S, Broback M et al. Physician and patient perceptions regarding physician training in rare diseases: The need for stronger educational initiatives for physicians. J Rare Disord 2013; 1 (2): 1–15.
- Global Genes. RARE facts. Available at: https://globalgenes.org/rare-facts/. Accessed February 2019.
- Folseraas T and Boberg KM. Cancer risk and surveillance in primary sclerosing cholangitis. Clin Liver Dis 2016; 20 (1): 79–98.
- Goode EC, Clark AB, Mells GM et al. Factors associated with outcomes of patients with primary sclerosing cholangitis and development and validation of a risk scoring system. Hepatology 2018; Epub ahead of print (DOI: 10.1002/hep.30479).
- Ponsioen C. Diagnosis, prognosis, and management of primary sclerosing cholangitis. Gastroenterol Hepatol (N Y) 2013; 9 (7): 453–465.
Author: Rebecca Annells