A Day in the Life of a Rare Disease Patient: Diagnosis

“The worst thing is not knowing what is wrong with you. I waited 18 years for a diagnosis.” – Patient, Ehlers-Danlos syndrome and POTS

“Any rare disease with a range of symptoms is difficult to diagnose. My condition was only recognized by a consultant who had seen a similar case 13 years earlier.” – Patient, Whipple’s disease

“The whole process of diagnosis was one which I never wish to repeat. I was labeled a ‘neurotic’ parent by a pediatrician and not taken seriously.” – Parent of a child with Noonan syndrome

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

The odyssey that rare disease sufferers must undergo to find their diagnosis has been well chronicled. The average respondent in this survey consulted 5 doctors, received 3 misdiagnoses, and waited 4 years before receiving their final diagnosis. Respondents reported being doubted by their doctors and accused of imagining their symptoms.Screen Shot 2016-02-08 at 6.09.46 PM

We need to be careful not to place too much blame on physicians. The odds are simply not in favor of a speedy rare disease diagnosis. With 7,000 total rare diseases out there – many of which most doctors will never see in their careers – it is difficult to know all the signs to look for. While the current medical system works well for common diseases, it is not set up to detect rare diseases.

Since the system is not set up to diagnose rare disease patients at an acceptable level, we need additional tools to help these patients. Advocacy groups are an example of such tools, as they work to educate the medical community to consider rare diseases when there is no obvious explanation for symptoms. We look to use WeHealth as another tool in the rare disease advocate’s arsenal.

Once we launch the WeHealth platform at the end of February, we will be able to share the messages of these advocacy groups through our social networks to reach those who are suffering from these rare diseases and have not yet been diagnosed. When these target patients are successfully reached, those involved in sharing the message are credited for their role in the success. By doing this, we enable everybody to become advocates.

View other articles in the “Day In The Life” series: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.