Note: In this article, the word “you” will be used to mean both you and your child.
You will need different kinds of doctors to help you with your rare disease. Specialists will know the most about your disease and which specific treatments are best. Many times, several specialists will be needed to help with specific parts of your disease. Doctors who treat people with rare diseases often know other specialists around the country or world and can help you find someone near your new home who is specialist in your disease. However, they are not usually the doctors who will help manage all the various parts of your care.
When you move, one of the most important new people will be your primary care doctor. This doctor will form your medical home, a compassionate, accessible, cooperative, family-centered place where you can develop a relationship and get help to coordinate your care. Most often, it will be up to the individual to find a new primary care doctor. How can you find a primary care doctor to help care for you when you have a rare disease?
It is important to know what you should consider when looking for a new primary care doctor. A good medical home works best when the doctor, their staff and you, the patient, form a team. You should feel comfortable with the doctor; be able to ask questions; have a sense the person is willing to work with you and your specialist(s), is willing to manage complex issues and coordinate care, and is open to learning about you and your rare disease. You also must be willing to be part of the team and communicate clearly and honestly with your new primary care doctor about your condition. Mutual respect will be key to building a successful relationship with your new primary care doctor. It may take several visits before you feel comfortable and develop a relationship. Sometimes you may need to see more than one primary care doctor until you find one that is best for you.
Someone with a rare disease may be a challenge for the primary care doctor. They may never have seen a person with your specific disease. You can help by providing some information about not only yourself, but also your disease. This may be a review article or reference about your disease or a website dedicated to your disease. Keep in mind that most primary care physicians have busy clinic days and are limited in the amount of time they are able to devote to each patient. It may be unrealistic to expect the primary care doctor will ever achieve the degree of in-depth knowledge about a rare disorder and the most recent research on it that you will have. The goal is not for your primary care doctor to become an expert on your specific disease (that is why you have a specialist), but to understand the problems related to the disease and be able to coordinate care with your specialist(s).
Prior to your first appointment, make copies of important documents to take with you. Consider making a binder or electronic file of important information and your own summary. Ask your previous specialist for a summary letter describing your disease, your specific problems, and your current treatments. This is very valuable for the busy primary care doctor who may not have the time to go through extensive records. These will be helpful not only for your new primary care doctor, but also any new specialists you see. You should also get a copy of your medical records from your specialists, hospitals where you were admitted, and your previous primary care doctor. A few key records you should get are the following:
- A copy of the specialist note when you first received your diagnosis, and the note from the most recent visit with your specialist.
- Copies of any tests that helped make the diagnosis—blood tests or tests on other body fluids (urine, spinal fluid, tissues remove for biopsies or operations), imaging (regular x-rays, CT scans, MRI scans, echocardiography, etc.), special diagnostic tests (lung function, sleep studies, psychological tests, etc.). If you have the actual image tests on a disc, that would be very helpful. You have rights to all your records (paper and images on disc) from all of your providers (including any hospital). Many providers do charge for copies. It is particularly helpful to get these before you move, as sometimes they can be hard to obtain later.
- If you have had tests after your diagnosis as a regular follow up of your disease, you should get copies of those as well.
- If you have had an operation or been admitted to the hospital, a copy of the Discharge Summary is essential. If possible, the Operative Notes for your surgeries are also useful.
- For children, a copy of the growth chart or a list of the weight, length, and head circumference over time.
- For children and adults, the immunization record.
- A list of current medications and the dose, any previous medications that were discontinued because they were not effective or caused side effects, and any allergies. Include experimental treatments, vitamins, supplements, herbal therapies, physical/occupational therapy, chiropractor—essentially anything you use to make your disease better.
The primary care doctor may not need to see all of these. You can refer to them during visits as needed.
Remember that your medical home with your new primary care doctor will be key to coordinating all other aspects of your health care. It may take time to find the right physician and home and to build an open and honest relationship. However, a good medical home, with you as the focus of the team, will help coordinate services and provide comprehensive care and ensure that you stay healthy.
Bonita Fung, MD, and Kim McBride, MD, Bexley, OH