Rare diseases often go dismissed in the medical community because of the lack of collaboration among specialties and medical professionals. When a child or adult fall ill their first point of contact is with their primary care physician or pediatrician!
The primary care physician is critical in their role to support collaboration among the specialties because he or she is the physician many rare disease patients see the most! Specialists in medicine are vital to assist and further specify unique problems as they arise in each patient. Ongoing medical management is led by primary care and continued specialized medical treatment is delegated to specialists when a problem arises that is beyond the primary care scope of practice.
Many times when a rare disease patient presents with a vast array of symptoms that are confusing or complex to address the patient feels like they are to blame. In addition many times when bloodwork cannot identify the problem right away it is frequently blamed on this old statement “it must all be in your head” or attributed to “stress” before they are given the benefit of the doubt!
Was I given this label? Thankfully, I was not!
I was simply dismissed many times before identifying the real serious disease process but not before it incurred permanent damage to my heart and lungs! However, I have met many with my same disease who were labeled “stressed” or “psychosomatic” initially and unfortunately it made their care a lot harder and delayed their correct diagnosis. Quick assumptions have damaged the rare disease community & have resulted in thousands of poor outcomes and yes….even death!
Lab work will not show all diseases. A prime example of a disease that cannot be identified on lab work is Syringomyelia! As a medical professional I appeal to you to take a new look at someone who presents with complex symptomology. Please reconsider before dismissing them as “stressed”....doomed to never find competent help again because they are now labeled. Once you label the person in their chart it is hard for them to find competent care from that point on because any medical professional after you reviewing the chart considers the label first as an explanation of symptoms and will look no further for a cause!
Why is collaboration a problem now? Collaboration is not ongoing or consistent at this time in medicine. Once a rare disease patient leaves the primary care with a new list or orders for tests to follow and new physicians to see somewhere along the way the patient gets lost!
The specialists see the patient and run new tests but when the patient returns to the primary care after completing the testing the patient has to go back to the specialist for a confirmed diagnosis and then the specialist and the primary care may not talk. If no results are communicated between the physicians professionally then they rely on information from the patients that can be misconstrued depending on the patient’s perception of what they were told.
The result….a confusing mess! In the interim the patient gets sicker and no answers or definitive plan is presented to help improve that person’s quality of life resulting in the patient feeling like a guinea pig in some weird science experiment!
The worst part is if it is a rare disease with no assigned primary specialist to manage it as in my disease then the patient can get bounced around from one specialist to another and no one wants to claim responsibility for the disease or the ongoing medical management of the disease! Collaboration of care among all of the involved physicians, and excellent follow ups are crucial to improve the quality of life for rare disease patients and their families! However, in the current system of healthcare unfortunately many of the patient’s symptoms go unaddressed until they develop into more serious complications as evidenced by higher hospitalization and mortality rates measured in the rare disease communities!
Continuity of care
Continuity of care is vital as well! Patients with rare disease require ongoing medical management as a part of preventative care! It is critical so that progression may be delayed and other complications may be prevented therefore saving lives!
Continuity of care means that the patient is followed for their symptoms and if they become worse they are immediately sent to the specialist that can manage the problem. Once the problem is addressed by the specialist then the primary care is notified and continues medical management to monitor patient progress until further assistance is needed over the long haul.
Who is responsible for overseeing the overall well-being of the patient and following their progress over the span of their life-time? Which physician has that important role? Every physician has that important role! However, the primary care physician has a critical role in following the patient’s progress and making sure to delegate them to the correct specialist maintaining communication with all involved physicians!
What happens when rare disease patients do not get good continuity of care or collaboration between their medical team? The simple answer is poor outcomes. You have increased morbidity, complications, and mortality. Sadly, it is still happening now. Patients get lost in the cracks and forgotten.
I know medicine has changed drastically but is it for the better? Take action now so that if you or your loved ones are affected by rare disease in the future you can have a vital role changing this trend! Please consider placing collaboration and continuity of care back in medicine…..it is what is missing from many practices and medical communities now. My organization measures its absence from the medical community in the lives of children and adults that pass away or experience horrible complications due to lack of collaboration, lack of continuity of care, and dismissiveness. I am a registered nurse who is now a rare disease patient and CEO of a large organization
advocating for thousands of children and adults bravely battling a rare disease. Are rare diseases really rare or rarely recognized? Rare diseases need a team approach for the best outcome! Remember, it is never too late to incorporate collaboration and continuity of care back into medicine!
A little backstory
Let me take you on a stroll down memory lane…..my grandfather was a prominent pediatrician in my hometown of Rome, Ga. He made house calls with a black bag and a stethoscope. Those were the days in which he knew all of the hometown physicians by name and simply called them at home to collaborate and speak with them about the concerns he had regarding his patients. Gone are the simple days of picking up the phone to discuss concerns with a colleague to elicit immediate response. Now you are fortunate to pick up the phone and find a human being at the other end instead of a computerized voicemail or answering service! Now physicians and nurses are overwhelmed with what can many times be seen as unobtainable demands and heavy laden with a patient workload unsuitable for 5 physicians/nurses much less one doctor or nurse. It is truly a sad state of affairs at times.
How do I recognize this? The simple answer is because I am a nurse. I worked alongside some of the best physicians and nurses in the field! It was and will always be an honor for me to remember. I want to extend my heartfelt thanks to you for your hard work, dedication, and tireless efforts. You all have my greatest respect but you may be unaware that there are currently many obstacles for the rare disease community. I am a colleague with a rare disease called Syringomyelia!
Only now something has changed. I am a patient with a rare disease that is not widely recognized in the medical community today even though it was first identified over 200 years ago! In the modern age of medicine with all the latest bells and whistles how can a rare disease be dismissed and how was my rare disease allowed to advance into heart failure, pulmonary hypertension, intracranial hypertension, and dysautonomia?
Despite my years of training with all the knowledge I had none of it helped me when I sought care for a rare disease rarely recognized in medicine. Early recognition and prevention would have prevented many of my own complications. If a trained registered nurse awarded for excellence in advocacy and patient care with over 15 years of experience in adult medicine, critical care, and transplant can get lost in the cracks then what does that say about our approach with rare disease? What is missing? Collaboration and continuity of care are the strong foundations that serve vital roles in the positive outcomes of patient care!
Beth Nguyen RN, CEO
Worldwide Syringomyelia & Chiari Task Force
“Rather, ten times, die in the surf, heralding the way to a new world, than stand idly on the shore.” --Quote by Florence Nightingale