Needless to say, the journey to diagnosis is long and can take an emotional and financial toll
According to the Shire Rare Disease Impact Report, a survey of 1000 rare stakeholders, it takes, on average, more than seven years in the U.S. and more than five years in the UK for a patient with a rare disease to receive a proper diagnosis. Patients typically visit up to eight physicians (four primary care and four specialists) and receive two to three misdiagnoses before reaching a correct diagnosis.
Needless to say, the journey to diagnosis is long and can take an emotional and financial toll. Whether you’re just beginning your search, or have been seeking a diagnosis for many years, here are ten tips that can help you.
See another physician
The doctor-patient relationship is important no matter what the circumstances but in cases where diagnosis is not conclusive, it is even more so. If you don’t think your physician is taking your concerns seriously (“It’s all in your head.”) or you just don’t think this is the person that is going to find the answer for you, trust your instincts and make an appointment to see another physician.
Do not be discouraged – stay the course
Because arriving at a correct diagnosis can easily span years, it can be very frustrating to wait for months or more to see a specialist and be told again that they are not sure what you have and to be referred to yet another specialist. Be your own best advocate and forge ahead. Don’t give up.
Keep a diary and list anything significant to share with your doctor
On the journey to diagnosis you will likely tell your story over and over again to multiple specialists. Consider creating a document that captures your medical and surgical history, including test results as well as any medication and symptom histories. (There are numerous symptom tracking apps available including Symple –Symptom Tracker for iPhone.) Equipped with this detailed history during your doctor visit, you won’t have to repeat your history and, more importantly, you are less likely to leave out critical information.
Search for specialists on websites of professional organizations
Everyone seeks to find specialists that come highly qualified by their patients and there are numerous groups and organizations to help you do just that. If you are looking to find a lipidologist, for example, there is a lookup feature offered by the National Lipid Association that explains certification credentials for lipidology and has a search to locate a NLA member physician.
The American Academy of Allergy, Asthma, and Immunology has a find an allergist/immunologist search by name and geography. Physicians who have achieved recognition as leaders in the field are flagged as such. Use these great tools and any tips they share to refine and refocus your search.
Connect with other patients and caregivers on social media
The advent of social media has helped to connect patients and caregivers to other patients and caregivers and their healthcare professionals. “How Facebook Saved My Son’s Life” is a fascinating story of how a mother used Facebook to help diagnose her son’s Kawasaki disease, a rare and sometimes fatal auto-immune disorder that attacks the coronary arteries around the heart.
Consider seeing a geneticist and getting genetic testing done
According to The Global Genes Project, 80% of rare diseases are genetic in origin, and are present throughout a person’s life, even if symptoms do not immediately appear.
Seek out groups and organizations that focus on diagnosis as a mission
In Need of Diagnosis, Inc. an Orlando based nonprofit organization formed in 2006 following a National Organization for Rare Disorders conference is an example of an organization with such a mission. The organization advocates for increased accuracy and timeliness of diagnoses and serves as a resource center for those who suffer with illnesses that have eluded diagnosis. The organization has fielded help requests from as far away as Asia and the Middle East.
Educate your physician on online resources for healthcare professionals
You can help your doctor help you by making him aware of online resources created by doctors who are experts on rare diseases, for other doctors. The National Organization for Rare Disorders (NORD) launched a new website that offers physicians’ guides designed to help medical professionals diagnose rare diseases. There are a dozen guides currently on the site and several more in the pipeline according to Mary Dunkle, Vice President of Communications for the National Organization for Rare Disorders.
A couple of researchers and physicians with ties to the Technical University of Denmark began a research project around information retrieval specifically around diagnosing rare diseases. The result was the February 2013 launch of a Google-like search engine for difficult medical cases.
Unlike Google and others, FindZebra.com searches for rare disease information from a repository of specialized resources, not the entire web. Their study published in the International Journal of Medical Informatics shows FindZebra handily outperforms Google. FindZebra.com still carries the caveat: “Warning! This is a research project to be used only by medical professionals.” Watch for an upcoming post about FindZebra’s evolution as a diagnostic tool for rare diseases.
Attend a patient advocacy conference
A patient advocacy conference is a wonderful opportunity to meet and exchange information with other patients, caregivers, patient advocates, physicians and researchers, all under one roof in a relaxed environment for networking and information gathering. While some conferences focus on a particular disorder, others are more general in nature. The 2013 RARE Patient Advocacy Summit is an example of the latter. Hosted by The Global Genes Project and attended by over 150 rare disease advocates and community members, the summit was also live-streamed to hundreds of virtual attendees. Summit goers experienced an interactive educational experience and were presented with practical advice, case studies and networking opportunities. The organization’s website has downloadable videos and presentations from each session.
Finally — when all else fails…
If every medical avenue has been exhausted, consider asking your health care professional for a referral to the National Institute of Health’s Undiagnosed Diseases Program. Launched in May 2008 the clinical research program was chartered to provide answers to patients with mysterious conditions and syndromes that had eluded diagnosis. Information specialists at the Clinical Centers Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information your doctor needs to submit for review.
Do you know of other resources you’d recommend for people seeking a diagnosis? What helped you along your journey? Please share your ideas to help others who are traveling a similar path.
Photo courtesy of ruffin-ready on Flickr Creative Commons.