The National Commission on Orphan Diseases reports that nearly 35 percent of people with rare illnesses can go up to six years before finding the correct diagnosis, according to Winoka Plummer, RN, founder of Hearts & Hands Support Group, and a mother of a son with a rare kidney disease.
She knows that nurses occasionally come into contact with patients and their families who might need some of the tips that she has compiled in a brochure for those with rare or undiagnosed illnesses. Here are some excerpts from that brochure:
The key word is perseverance. Never say never. Your answers could well be coming from that very next telephone call, tomorrow's mail delivery or from this afternoon's visit to the medical center library.
Don't feel threatened or overwhelmed by doctors. They don't have all the answers, and it's perfectly normal for you to seek out other opinions. Write down all your questions so you don't forget to ask them during a visit to the doctor.
Get smart. Soak up all the information you can. Probe for cues in medical libraries. The more knowledge you have, the closer you can come to controlling the whole search process and the faster the solutions can come [Note: Medline is now available for free, thanks to Vice President Al Gore. You can get that info at National Institute of Health].
Write down all the details of the patient's medical history. It's also a good idea to create a log of all the past records of family members. Doctors and other specialists need all the help you can give them when looking for answers.
Stay close to those people who have experienced similar frustrations. Their knowledge can lead you to public or private groups such at the National Organization for Rare Disorders or one of the specialized units of the Nations Institutes of Health.
