YOU DON'T LOOK SICK! ENVISIONING THE INVISIBLE RARE DISEASE

by Sherri Jones  -

The attached video was by posted in an Irish Journal and tells the story of Rei Haycraft; A woman living with the effects of an Invisible Disease known as Ehler Danlos Syndrome (EDS). 

EDS is one of over 7000 known Rare Diseases, and only one of multiple Connective Tissue Disorders, which can have hundreds, or even thousands of physical presentations. 

The storyteller, Rei Haycraft tells her own personal story of how often invisible diseases are ignored, undiagnosed and misunderstood by the medical profession and also society in general. This story explains, very well, how dangerous this ignorance can be to patients and their genetically related family members.

Canada is no different.

Rei wrote on her Youtube page,  “I have Ehlers Danlos Syndrome, and this is my story. Please share this video to anyone who lives with EDS or knows someone affected by it. Together, we can raise awareness, understanding, and support.” 

Rei is so very right about the urgent need to share her story and this information, but as someone who lives with my own list of Invisible Rare Diseases I believe this video should be seen by everyone, not just EDS Patients, or people with EDS symptoms. 

Why? Because Rei’s story could also be the story of millions of other patients living with thousands of other Invisible Rare Diseases anywhere, and everywhere, around the world. 

Persons with any form of Invisible Rare Disease are often ignored, treated like hypochondriacs in need of counselling and anti-depressants to manage what Doctors believe to be a, “physical manifestation of a mental health problem”.

Being properly diagnosed with Rare Disease anywhere can take weeks, months, years, or in many cases, a lifetime. How can we change that? 

I believe it all starts with frontline medical staff. Medical practitioners of all specialties need to care enough to look past their tight time frames and personal judgments. They need to take the time to actually see and hear the patient sitting before them who’re suffering from a list of pain and symptoms that to the Doctor or Nurse makes absolutely no sense. 

Think of it this way. You’re the Doctor; you’re the one with medical training and years of hands on experience, but with all of that to support you, you still can’t make any sense of this patients complaints or symptoms. 

Most patients aren’t Doctors or Nurses; we have no medical training or patient treatment experience, but what we do have is a long list of symptoms, that if taken into consideration, might actually amount to something you never would, or could have considered.

If you can’t immediately find the cause for your patients suffering, please at least hesitate before tagging us as hypochondriacs. Instead, why not take advantage of our far-reaching Internet? That’s what computer savvy patients do. Why can’t Doctors? 

We use the Internet to play games, meet people, share thoughts and ideas, and even to keep up to date on what our friends had for dinner, but are we actually making use of its ability to help save lives? 

Unbeknownst to the majority of Canadians, and yes, even medical professionals; The Canadian Federal Government offers its citizens a new, unique and very welcome gift. It’s the gift of open access to International Research and understanding of Rare, or otherwise known as Orphan Disease.

Orphanet Canada is a launch site that brings the user to a long standing, highly respected European Orphan Disease Database. This website can help Medical practitioners review symptomatology and help them understand what these symptoms “might,” mean. Orphanet Canada provides links and contact information to specialists in almost every rare disease category or diagnosis. If you can’t find a specialist within reach, why not call on those all so important specialists, who’re all too often overlooked. Call a local Geneticist!

Geneticists can answer a wide range of Rare Disease questions, but unfortunately, within Canada we’re a little short on genetic services due to a lack of required funding. The Geneticists we do have are often overlooked, overbooked and understaffed, but they’ll still answer your call and do their best to help your patient.

We’re all aware that there’s only so many donor dollars to go around, and very limited funding supports Genetics. This leaves us without easy access to those who could help save millions of dollars in healthcare spending by getting to the point in a much shorter period of time. This gap in services leaves far too many Rare Disease Patients in what can come to feel like a never-ending void of agony, anger and frustration.

Fundraising is done, for the most part, to take on one specific challenge at a time. It’s used to discover causes, effects and solutions for the disease being funded, but what about the genetic services we’re in need of everyday? Where do the Doctors of possible Rare Disease Patients turn for answers? 

Wait times, deadlines and a never ending line of patients demand that beds be freed up for the next most critical case. It’s just part of what we’ve come to accept as a part the system, and this all too often pushes Rare Disease patients, with their invisible disease to the end of the critical healthcare line.

Tag after tag, denial after denial, all could be avoided by one compassionate moment offered by any Doctor who’s willing to consider they may not know everything. Although that thought might make a Doctor feel extremely humbled, it’s definitely the first step to helping Invisible Diseases, become Visible.

I’ve been down the long winding road of hurried, frustrated and arrogant Doctors, but I’ve also had the personal pleasure of witnessing just a few of the benefits that come from an open mind. I’ve also had the pleasure of discovering some of the gifts that Geneticists can offer patients with an Invisible Disease. 

For me personally, that two-hour consult helped me feel the joy and relief that comes from the knowledge that my suffering was finally visible to someone! For the first time ever, someone saw my symptomatology as a whole, instead of a large collection of small, unexplainable parts. 

My Geneticist helped me feel vindicated, but also shocked by making me reconsider everything I once thought of as “normal”. I’m not normal and I never will be. I don’t like it, but I’ll adjust.

Today I’m part of a Genetic Research study that “might” make me one of the thousands, that like Rei, is suffering from the effects of a Connective Tissue Disorder. 

I might actually be more like Rei than I originally thought. I could be diagnosed with Ehler Danlos Syndrome (EDS), or it could also be Marfan’s, or Loeys-Dietz. As I write this the research team is looking for that genetic link, but whether they find it or not, I’ve come to accept that many symptoms in my life come from a disease that’s only now being considered, and not even close to being understood. 

I believe it’s important to recognize all of the gaps that lay within our healthcare systems, gaps that leave patients and families to suffer from undiagnosed, misunderstood and Invisible Rare Diseases. I’m convinced that one of those gaps is the value added understanding provided by that unique specialty of Genetics. 

If each patient could find that one compassionate Doctor who’s willing to take the time to consider the unknown, then we could be well on our way to discovering the answers that may not cure us, but have the power to lengthen our lives, and help us focus our energies. 

Every patient I’ve ever met, who has been diagnosed with any form of Rare Disease quickly becomes his or her own Rare Disease Advocate. 

No one can take on this fight the way a Rare Disease Patient can, but we need the help of those around us to help us achieve our goals. Our pain and suffering has the power to shut us down time and time again, but the voices of our supporters are one of the most valuable parts of the battle that will hopefully offer us solutions.

There are too many gaps in Canadian Healthcare, and for Rare disease Patients there’s even more than the norm. 

There’s a lot that needs to be done to improve Rare Disease Patient Healthcare in Canada, but some major improvements could be achieved by increasing access to qualified Geneticists, that can be added to our Rare Disease healthcare team roster.