Welcome to Living (Well) With Rare Disease!

Welcome to Living with Rare Disease!

by Lori Verton
Founder, ACMCRN
Rare Disease Warrior

There is a certain quality about the experience of living with a Rare Disease: a bit of an oxymoron in its character. By definition, a Rare Disease patient is one whose disease is found in less than 200 000 Americans (or about 1 in 1500) at any time. For those in Europe, the definition is similar at 1 in 2000 people, (See:https://www.rarediseaseday.org/article/what-is-a-rare-disease). For those of us with any one specific disease entity, indeed we are a rare bunch, The spinal cord disease that I deal with, Adhesive Arachnoiditis, falls under this definition. 

Paradoxically, when Rare Disease patients are gathered together, we are actually not that Rare at all! An estimated 350 million people globally are diagnosed with one of the over 6000 known types of Rare Disease. (For a list of all types recognized in EU, see here: https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/). So while each disease entity has its own unique symptoms, causes, treatments and such, the overall experience and challenges of living with a Rare Disease are similar. Those of us with Rare Disease have a whole lot of things in common!

  • Long Delays in Diagnosis: The average length between symptom onset and proper diagnosis is 4.8 years! Patients see an average of 7.3 physicians before accurate diagnosis is made.  (https://www.shire.com/-/media/shire/shireglobal/shirecom/pdffiles/patient/shire-diagnosis-initiative-pag-leaflet.pdf)
  • Dealing with Stigma of Physician Disbelief: Many physicians, with their limited training and exposure to Rare Disease, become frustrated in their search and begin to openly express disbelief in symptom reporting, often looking for mental health issues to explain what is a primarily physiologic/genetic disorder. Families and patients become discouraged and physicians often become frustrated with damage to the patient-doctor relationship. "....the absence of proof is not the proof of absence."
  • Physician Education, Training, Research, Industry Challenges: Because very little is known about each of these Rare Diseases, each of these entities have only a handful of trained experts in the world. And even for those experts, the paucity of clinical research, evidence based protocols and other such issues challenges their ability to provide any treatments or suggestions for these patients. Most of our care is made up of trial and error. Because there are so few experts in any one of these Rare Diseases, patients and their families must travel long distances at great expense to get care, 
  • Research into Incidence, Mechanisms, Treatments and Such is Difficult due to Geographical Constraints and Scattering of Patients Worldwide: Up until just a few short years ago, Research opportunities were very limited for Rare Diseases. But recent technological advances in big data, social media, biometrics and more have made it possible now to overcome some of the past obstacles. Bioregistries, Online Patient Advocacy Groups, Video Conferencing, Big Data advances are beginning to overcome the financial and logistical challenges to Rare Disease Research in the past.

This year's Rare Disease Day is February 28, 2018! Come Join In!

RareDiseaseDay 2018

© Calliope Press Canada
January 30, 2018


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