Rare disease patients often face a difficult journey to diagnosis, commonly termed a ‘diagnostic odyssey’. This regularly involves moving from clinician to clinician, multiple misdiagnosis, unnecessary tests, and incorrect treatments. Arkaprabha Banerjee, medical student at the University of Cambridge, shares the wider impact of this diagnostic odyssey on a family, as well as thoughts on how this can be improved. The blog was originally written for Findacure’s Student Voice Essay Competition.

‘We were isolated. I had therapy for five years, my husband had therapy, and even our boys were seeing the psychiatrist. A section of our family rejected us.’

These were the words Vivienne* used to describe her diagnostic odyssey in seeking the correct diagnosis for her sons Antoine* and Sebastien*. Both were diagnosed with Fragile-X Syndrome, a rare genetic disorder characterised by mild to moderate intellectual disability. It took more than 10 years, a lot of heartache and a broken family for Vivienne to find the proper diagnosis for her beloved sons (Appanah, 2013).

To date, roughly 7000 distinct types of rare diseases have been identified, most of which are caused by genetic abnormalities. It is estimated that approximately 350 million people worldwide, about 5% of the world’s population, suffer from a rare disease. In certain countries, this statistic is higher; 10% of USA’s population is thought to suffer from a rare disease. Furthermore, roughly half of all rare diseases do not have a specific foundation supporting or researching into cures for the disease (Global Genes, 2015).

Statistics can give us a broad idea about the global impact of rare diseases. But to truly understand the experience of living with a rare disease, to comprehend the pain and stress of a diagnostic odyssey, I believe we must listen to the story of one who has walked every step of that long journey. Vivienne has been a part of that journey, not for herself, but for her sons. This is her story.

Antoine and Sebastien were born to Vivienne, a nurse, in 1979 and 1981 after difficult pregnancies. Sebastien was wrongly diagnosed with hydrocephalus and autism due to developmental delays. Antoine displayed normal development, but was hyperactive. When the two boys first started preschool, the teachers of the school had a meeting with Vivienne to find out what exactly happened at home to make the boys behave ‘like that’ in school. From an early stage in their lives, it was assumed that the behaviour and development of the boys was due to poor parenting. As parents, this was a stinging blow to Vivienne and her husband, Xavier – all around, people placed the ‘blame’ for the two young boys’ behaviour and development on their parents. It was a major knock to their confidence as parents, and resulted in the whole family having therapy to try to rectify the perceived problem of poor parenting. The misdiagnosis caused a lot of stress on Vivienne and Xavier’s family, and it also lead to isolation. A part of their extended family rejected them, and cut off ties with Vivienne and Xavier.

They continued for more than five years with the understanding that Sebastien and Antoine’s condition was solely the fault of Vivienne and Xavier. All the doctors, psychiatrists and other medical professionals that Vivienne approached gave her the same response – there was nothing physically abnormal with her boys, their behaviour was a result of the environment. Vivienne only found out about the possible diagnosis for her boys from the Telethon in 1987. She found similarities between her everyday life and the stories portrayed on screen. The similarities gave her a niggling feeling that something was wrong with the previous diagnoses, and she decided to follow her hunch and contact a geneticist. After numerous tests and several days spent in a hospital, Sebastien was diagnosed with Fragile-X syndrome. The news was bittersweet to Vivienne – on one hand, she had found a reason for her son’s developmental delays and behaviour, but on the other hand, she felt immeasurable guilt that she had passed on the debilitating condition to her beloved sons. The diagnosis was found in 1989, a time where very little, if anything, was known about Fragile-X Syndrome, and there was next to no support available.

Vivienne and Xavier’s journey to find proper medical care for their sons did not end there. Now began the arduous task of finding treatment for a poorly understood, rare condition, especially at a time where internet, social media and mass communications were not well developed. Vivienne and Xavier managed, however, through determination and love for their sons. Both Antoine and Sebastien now work at Special Work Centres (CAT), and Antoine uses his boundless energy in precision welding, his new passion. Vivienne and Xavier’s diagnostic odyssey with their sons, going from doctor to specialist to psychiatrist and back, challenged their faith in the medical profession. At every turn, they were rejected by medical professionals, receiving very little support. But instead of becoming bitter over their terrible and long-drawn journey, they decided to do use it as motivation to do something good – they launched the first Fragile-X patient association in France; Le Goeland. Along with putting families with Fragile-X sufferers together, Le Goeland also provides support to patients and gives pointers to newly diagnosed members on how to manage the condition. Vivienne and Xavier were adamant that nobody should have to go through their terrible ordeal without support and help.

Vivienne’s family’s story is touching and really shows what sufferers of rare diseases go through. By many definitions, her family’s journey ended in success – Sebastien and Antoine are now both working, and Vivienne and Xavier use their contacts and knowledge of Fragile-X Syndrome to help others diagnosed with the disease. They are an incredibly strong family who were able to triumph against the circumstances, even when the entire world seemed against them. However, for many with rare diseases, the story does not have a happy ending. In fact, there have been cases where sufferers of rare disease were diagnosed post mortem. For example, in March 2010, a 23-year-old young man was misdiagnosed with myocarditis and subsequently passed on. During autopsy, it was discovered that the young man suffered from Ehlers-Danlos Syndrome (EDS) Type IV, a rare, inherited connective tissue disorder (Natalia Escribano, 2010).

The diagnostic odyssey may end with answers and a solution, as it did for Vivienne and her family, or it may end in death, as it did for the young man who suffered from EDS Type IV. The fact of the matter is that it is unacceptable that anybody suffering from a rare disease must go through so much hardship to get only a correct diagnosis, not even a cure. There are some measures which can be employed to ease the plight for sufferers of rare diseases. The first thing we can do is to create an easily accessible, international database for rare diseases. Clinicians are human, just like everybody else. It is impossible to expect them to keep track of all the signs and symptoms of rare diseases and common ones, and be able to accurately diagnose patients with rare diseases. A global database, which includes the signs and symptoms of various rare diseases would help solve this problem. Doctors could key in the signs and symptoms of patients who they are unsure about to determine the disease and cross-check other possible signs and symptoms to confirm the diagnosis. The database could also include possible treatment options, or specialised centres which are better equipped to deal with rare diseases. The idea behind the database would be to not only diagnose the rare disease accurately and rapidly, thereby reducing the length of the diagnostic odyssey, but also pointing the patients in the direction of possible treatment options to help them manage the condition.

Along with the database, increasing awareness of rare diseases would help in reducing the feelings of isolation that patients with rare diseases feel, during the diagnostic odyssey and after. Currently, there is a global Rare Disease Day celebrated on the last day of February each year, to raise awareness among the public, policy makers, researchers and health professionals on the impact of rare diseases on the lives of the afflicted (Eurordis, 2017). By raising awareness, such events also work towards helping to raise funds for research into rare diseases, the majority of which are poorly understood. If everybody is more aware of the lives of those with rare diseases, of the diagnostic odyssey, the isolation and feelings of helplessness they experience, more people and charities will come forward to lend a helping hand, to volunteer and donate into research for these diseases.

Rare diseases, like any diseases, are a terrible thing. What makes them worse is that they are poorly understood, hard to diagnose, and often very difficult to cure. People with rare diseases thus often go on diagnostic odysseys to first get a diagnosis, and then subsequently undertake a further, sometimes longer and more difficult journey to find a cure, if one even exists. Preventing such journeys and problems may be possible with a global database for rare diseases, and by increasing awareness, which in turn will increase funding, of rare diseases. A global database will help shorten (and hopefully remove) the diagnostic odyssey, and increasing awareness and funding will hopefully lead to a cure for the rare disease.

*Names have been changed

Bibliography

  • Appanah, N. (2013, August 13). Fragile-X syndrome: Insight from two generations. Retrieved from Eurordis: https://www.eurordis.org/content/fragile-x-syndrome-insight-twogenerations
  • Eurordis. (2017). Rare Disease Day. Retrieved from Rare Disease Day: https://www.rarediseaseday.org/
  • Global Genes. (2015). RARE Diseases: Facts and Statistics. Retrieved from Global Genes: https://globalgenes.org/rare-diseases-facts-statistics/
  • Natalia Escribano, I. M. (2010). The role of postmortem study in the diagnosis of the cause of death in a young man: a rare case of Ehlers–Danlos syndrome type IV. BMJ Case Reports, Published online.