Diana Klurfeld on Creating Awareness of Rare Diseases Among Physicians

Jerry is one of two doctors practicing in a small west Texas town. He is a primary care physician treating everyone from newborns to geriatric patients. Since the nearest large hospital is 60 miles away, he treats a variety of injuries and illnesses in his clinic. Alex and Diana Klurfeld think Jerry’s story is as common as it is surprising.

Because he serves a small community and often treats entire families, Jerry has a close relationship with his patients. It is customary for patients to bring baked goods to the clinic during the holidays and receive invitations to their graduations, weddings, and even funerals. He personally calls to check on his highly ill patients. When asked to describe his medical philosophy, he says he’s an old-fashioned country doctor that strives to give the best care to his patients while being personable and compassionate.

Five years ago, he had a patient that had recurring sinus and ear infections. She always seemed to have a deep cough and was congested year-round. He kept prescribing antibiotics to resolve the sinus and ear infections. But the illnesses kept returning, seemingly more robust than before. During this time, the patient presented with fertility issues. After three years of unexplained illness, the patient’s mental health began to deteriorate. She went to a psychiatrist who prescribed an SSRI for depression. Jerry referred her to an allergist, but they were unable to resolve the patient’s chronic infections. He then referred her to an ear, nose, and throat specialist, yet the patient still had chronic ear and sinus infections. He then referred her to a pulmonologist. After running a genetic test, his patient was diagnosed with Primary Ciliary Dyskinesia (PCD). With physical therapy, airway clearing exercise, and IV antibiotics, his patient has a much better quality of life when the disease flares. His patient also received fertility treatments and was able to conceive.

Looking back, Jerry regrets not seeing the signs of this rare disease earlier. He followed his training, but even still, his patient suffered longer than was necessary. “I wish that I had more training in what to look for when a rare disease presents. I saw and treated what looked like normal and unrelated issues. Had I understood that these seemingly divergent symptoms were pieces to a much bigger puzzle, I could have helped my patient sooner.”

“If we are to see rare illnesses diagnosed and treated early, we must educate physicians to look for and identify the signs of rare disease. It is for this reason that the Klurfeld Cares Foundation offers rare disease awareness and diagnosis training seminars to physicians.” Alex Klurfeld, The Klurfeld Cares Project

Awareness Before Diagnosis

It is a difficult battle for a patient to get a diagnosis and treatment for a rare disease. According to a 2015 study done in the UK, the average patient with a rare disease diagnosis sees at least five doctors, gets misdiagnosed three times, and the average wit for the correct diagnosis is four years. The statistics in the US are even worse. It takes an average of five years for an adult to get diagnosed with a rare disease; for children, the average wait is six to eight years for a correct diagnosis. According to John’s Hopkins University School of Medicine, around twelve million people are misdiagnosed annually in the US. Around one-third of the people misdiagnosed have permanent injuries or die due to their wrong diagnosis. Twenty percent of the people misdiagnosed are ultimately diagnosed with a rare disease. Misdiagnosis has life-altering effects for patients. Being misdiagnosed can lead to unnecessary and intrusive treatments, stress, extra financial burden, and the most extreme cases, death.

Unfortunately, even after getting diagnosed, patients often do not receive the treatment and care needed. The patients often have to educate their doctors on their condition and advocate for the correct treatment.

“Healthcare workers often have insufficient knowledge on rare diseases that may lead to delay in making a diagnosis and providing appropriate care.” Lesley Harrison, Patient Support Manager, AKU Society

The first step in raising awareness among doctors is addressing rare diseases in medical school. The truth of the matter is that it is impossible to train doctors in every rare disease. We are amassing new medical knowledge at a rate never before seen in all of human history thanks to the advances in technology and genetics. Even if we could give every doctor a thorough understanding of all the rare diseases we know, it would only be a short time before their knowledge is out of date and new diseases have been identified. Instead, we need to train doctors on the principles of identifying patients with potential rare diseases. Doctors are trained to look for patterns, and then they match those patterns with known pathologies. They are taught to look for the most common disease patterns first. Like the old saying goes, “If it gallops like a horse and looks like a horse, it is probably a horse, not a zebra.” This adage rings true 99% of the time, but there is always that 1%. Doctors must be trained to realize that they will come across the occasional zebra, although they will see many horses during their career.

Another way to raise physician awareness is continued education through seminars and virtual classes on rare diseases. The need for this kind of education was a driving factor for Diana and Alex Klurfeld to found their volunteer organization, The Klurfeld Cares Project. Alex Klurfeld, a physical therapist in New York City, found that many of his patients were suffering from misdiagnosed or completely missed rare diseases for years. By the time the patients came to him, they were in much worse shape than they would have been had their condition been correctly identified in the beginning. It is now his passion to raise awareness of these diseases within the medical community.

It is no secret that doctors lead hectic and busy lives; their time is precious. One way to make attending these conferences a priority is for the doctors who attend them to earn certificates of specialization in rare diseases. Another way to make them easily accessible to physicians is to make the courses and seminars available online.

Patients with rare diseases quickly learn to advocate for themselves. They become aster researchers and quite often know more about their illness than the clinicians. Physicians must listen to their patients and learn from them. The best way to raise awareness is to listen to the story of someone who is personally affected by a rare disease.

Complex and Confusing Symptoms

Lak of awareness of rare diseases in the medical community is not due to lack of care on the part of physicians. Every physician I know cares deeply for their patients and wants nothing more than to ease their suffering and offer them the best care possible.

Doctors and therapists should receive training teaching them to spot a patient suffering from a rare illness or disorder. Vague symptoms like fatigue can make it difficult to distinguish an illness from ordinary stress-related, temporary conditions. not Detection is complicated because many rare diseases have a variety of symptoms that are often attributed to many more common diseases. Further complicating diagnosis is that these rare disorders and illnesses can display symptoms differently from patient to patient. The standard diagnostic procedures of noting symptom patterns and attributing them to the most common disease do not work. New training is needed to teach general practice physicians to look at all the symptoms as part of one big puzzle instead of individual issues. This method of observing a patient is necessary for patients who keep returning with what appears to be chronic infections or complaining of pain that cannot be pinpointed or easily explained. Often patients with rare diseases also have depression or anxiety. Living with chronic pain and illness dramatically affects mental health.

When a physician takes all these small pieces and puts them together, they should consider that the patient may have a rare disease.

“Though the diseases themselves may be rare, treating a patient who suffers from one of these illnesses is not rare. With more than 350 million patients suffering from rare diseases world globally, the odds are you are already treating at least one patient who has a rare disease.” Diana Klurfeld, CEO The Klurfeld Cares Foundation

Conclusion

“Medicine is learned by the bedside and not in the classroom. Let not your conceptions of disease come from words heard in the lecture room or read from the book. See, and then reason and compare and control. But see first.” William Osler

With over 7000 rare diseases affecting 30 million people in the US alone, we do not have the luxury to sit back and ignore these diseases any longer. We must put our time and resources into raising awareness of these illnesses with the doctors who care for these patients daily. General practice doctors are the first line of diagnostic defense. As we improve the understanding of rare diseases with these doctors, patients will be given the correct diagnoses more quickly. Early detection, diagnosis, and treatment will save not only suffering but valuable time and resources. And ultimately it, the patients will have a greater quality of life.

Note: Diana and Alex’s Klurfeld Cares Project is currently an informal, grass roots awareness project and does not seek to raise money or donations of any kind. If you are interested in learning more about how you can help create awareness through volunteer outreach with Diana & Alex, please visit https://www.DianaKlurfeld.com

Resources

Barriers to Rare Disease Diagnosis, Care, and Treatment in the US. rarediseases.org. (n.d.). https://rarediseases.org/wp-content/uploads/2020/11/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf.

Diagnosing and Treating PCD. American Lung Association. (n.d.). https://www.lung.org/lung-health-diseases/lung-disease-lookup/primary-ciliary-dyskinesia/treating-and-managing.

Diagnosis of Primary Ciliary Dyskinesia: An Official ATS Clinical Practice Guideline Implementation Tools. (n.d.). https://www.thoracic.org/statements/guideline-implementation-tools/diagnosis-of-pcd.php.

DocPanel. (n.d.). How Common is Misdiagnosis — Infographic. DocPanel. https://www.docpanel.com/blog/post/how-common-misdiagnosis-infographic.

Rare Disease by the Numbers. Innovation.org. (n.d.). https://innovation.org/en/about-us/commitment/research-discovery/rare-disease-numbers.

Read, L., & *, N. (n.d.). Raising Physician Awareness of Rare Diseases. Findacure. https://www.findacure.org.uk/2017/02/17/raising-physician-awareness-of-rare-diseases/.

William Osler Quote. A. (n.d.). https://www.azquotes.com/quote/1058312?ref=practice-of-medicine.