When it comes to rare, uncommon diseases, there is a discrepancy in terms of symptoms, diagnosis and treatment. Unless you have had such an experience, you may not already know that.
You can imagine getting ready and going to the hospital to describe your symptoms to your doctor and there is a solid chance they have never heard of the ailment. Such is the case with rare diseases.
What Is It Really?
It all begins with visiting your doctor for a diagnosis. When looking for the aforementioned diagnosis, that is where patients encounter the medical diagnostic gap.
The first step is finding a doctor who can correctly make the diagnosis. This first step alone can take years. I don’t have to mention the stress, uncertainty, mental and emotional turmoil the patient has gone through at this point. Studies have shown that 25% of patients wait 5-30 years from manifestation of first symptoms to confirmatory diagnosis.
While awaiting diagnosis, another challenge comes up: medication may not be available and if it is, it is the wrong one. On top of that, treatment is anything but free with so many expenses involved. Patients and their families often have to deal with costly travel, medication and other individual needs.
Impact of the Diagnostic Gap on Society
Due to the diagnostic gap, children especially find it rough when dealing with rare diseases. It comes with potential humiliation in school because let’s face it, sometimes kids are mean – it’s all a matter of not understanding what their mate is going through really.
Parents with such kids need tons of support for themselves and their child as well just to get by their daily lives.
Standing up for your rights as a patient or just a citizen can be tough with discrimination from the workplace and practically everywhere else.
Sometimes, caregivers don’t communicate with each other, which adds salt to the patient’s injuries – metaphorically. The way to go is joining support groups like war vets do and get personal support from people going through the same.
What Causes the Medical Diagnostic Gap?
This vice comes down to a couple of reasons:
Lack of diagnosis, insufficient knowledge about rare diseases and their consequences and finally, lack of communication between professionals.
What Can Be Done
The first reasonable solution is raising the awareness of rare diseases in the society as well as in the healthcare sector. If enough is known about a disease and its symptoms, perhaps it can be diagnosed with simple tests like rapid antibody immunoassays that are used in SARS CoV-2 virus. This rapid antibody immunoassay is a test used to determine whether a patient has antibodies against the virus.
Focus should be on practically everyone in the society from the scientific community to educational systems. All students and professionals should be in the scope because rare diseases are often multifaceted problems. Think of it this way: you have a broken leg and need crutches to walk, right? Here’s the catch, your shoulder joints are hypermobile and can easily dislocate. The complexity of the problems patients in these rare patient groups undergo are like that.
There is a need for more research into the implementation of research results in the development of care which is a much-required procedure. In the spirit of inclusivity, patients will need to be as involved as possible in their care. To get there, mindsets have to be changed and that can only be achieved by spreading awareness.
We are not that far off with patients already designing their own tests for the drugs they are using. They are learning how to manage dialysis procedures themselves and how to construct databases to evaluate their treatment. The goal is working towards more of a partnership in lieu of today’s structure that has healthcare professionals designing how to deliver care to patients.
