The Long and Winding Road to Care

Rare conditions, syndromes and diseases can include a really long and winding road; especially during the diagnosis period.  Rare doesn't mean there isn't a diagnosis, it just means more thought and referrals for second opinions or referrals to specialists are needed.  Delays in diagnosis can lead to  permanent damage/disability, undesirable impacts on work and personal life  and even premature death.  To each of these there is a cost that is avoidable with increased awareness, thoughtfulness and doing the right thing for patient safety. Rare Patient Voice partnered with MediFind, an advanced digital health platform helping people facing complex health challenges find care, and surveyed 1,229 members of the RPV community on the current journey to diagnosis and care. The resulting report, "The Long and Winding Road to Care'', shows progress being made for patients, but unevenly across disease types and other demographics. This is certainly true for those with Guillain Barre Syndrome and its variants - of which I'm personally familiar.  Unfortunately, I continue to hear stories from others who had similar challenges and delays in treatment.  Those of us getting our COVID19 and other vaccines have probably noticed the question on the intake form asking if we have had this condition; so I'm hopeful this increased awareness will also lead to more awareness of the signs and symptoms. However, there are a variety of rare conditions and key takeaways from the collective of those who participated in the survey are listed below. The diagnostic journey continues to vary Patients with rare diseases took longer to be correctly diagnosed: only 23% were diagnosed within three months, while it took five or more years for 28% of patients. For patients with cancer, two-thirds were diagnosed within three months, and only 1% took five or more years to be properly diagnosed. On average, patients report seeing four different doctors before getting correctly diagnosed. This number jumps to almost six different doctors when the patient has a rare disease. Genetic testing is shortening time-to-diagnosis, but progress is uneven Genetic testing has become particularly prevalent for patients with cancer as 75% of patients diagnosed with cancer over the last two years have been genetically tested. Surprisingly, genetic testing is not a mainstay of rare disease diagnosis, with only 20% of patients diagnosed with a rare disease in the past two years reporting that they received genetic testing. Clinical expertise drives specialist choice 55% of rare disease patients say clinical expertise is the most important factor when choosing their doctor, as opposed to 47% of complex disease patients. 88% of primary care doctors say medical skill is of great importance when selecting to whom they will refer patients, although how doctors practically evaluate such skill remains unclear. Seven physicians were involved in my mysterious case - and one family physician who chose to defer.  The key for me was the ability to access specialists virtually (for a case review) at two academic facilities who referred me to a subspecialist.  My neuromuscular specialist, familiar with treating patients like me, is what has made to most difference in my long and winding road.  I'm eternally grateful to the three physicians involved in my case review and their guidance. My local neurologist's response when I told him my diagnosis - "Wow!".   My lessons learned to patients, advocate for yourself and if your doctor doesn't have an answer for you, get referrals to others to at least start ruling out diseases and narrow down the type of specialist that can make the difference in your journey.  Never settle or stop advocating for yourself.