PXE Care: How to Find a Doctor


Click to listen (4.29 MB)

By Frances Benham, PhD
and Mary Krieger, R.N., MIS

The request most often received by NAPE is to identify a doctor experienced in PXE care. These requests come from across the United States as well as from other countries. NAPE would love to be able to provide that information, but we do not have it except for a few locations, typically in urban areas. Those of us who have PXE are widely scattered in the general population so that most doctors may never meet a patient with PXE. How then does one get appropriate medical care?

The first step is to learn as much as possible about PXE. This may seem strange, but it is an important experience learned by those who live with PXE. The NAPE website (www.napxe.org) provides much information. Reading this material, if possible with a family member or trusted friend will help you to understand your situation better and to talk more usefully to a physician.

The next important step is to talk with others who have been diagnosed with PXE. NAPE's website and newsletters provide contact information for those happy to talk with you. Check the PXE Pals list. You may also contact the NAPE office to obtain PXE contacts. For example, a young woman who has PXE and plans to become a mother will benefit through direct contact with a new friend who has recently had that experience. A business person struggling with vision loss can benefit through contact with others who have similarly struggled. All can benefit by learning how others have coped and live full lives. In the process, you can gather information about medical care and perhaps locate a physician. The NAPE office will try to provide contacts in your geographic region. The annual NAPE conferences are another way to meet others with PXE who can help you gather insights on how to live with PXE.

Another step which may prove vital in identifying local doctors is to determine if there is a nearby association which provides services to those with vision problems. Here you may be provided physician contact information. Check your local telephone directory.

What specialists should you see in addition to a general practitioner (these days, this may be a doctor of internal medicine)? You should develop relationships with a retinologist and a cardiologist. If you are having digestive problems, you will want to find a gastroenterologist. Dermatologists often provide the diagnosis of PXE when contacted because of the skin disfigurement caused by PXE. Once you are established with each specialist, you will determine frequency of check-ups and personal care protocols.

If you live near a medical school, you may find needed help more easily. Many medical schools are associated with clinical practices dedicated to training new doctors through the care of patients under the guidance of experienced teaching physicians. It is here that you may find the most up-to-date knowledge of current medical research and practice.

Medical associations - local, state, and national, especially those focused on the specialty needed - may be identified through the Internet, in a local telephone directory, or by requesting assistance from the reference department of a public or academic library. One Internet resource that may be particularly helpful is MedlinePlus (http://www.nlm.nih.gov/medlineplus/). This web site has extensive information from the National Institutes of Health and other reliable organizations on medical conditions and diseases. Under the "Directories" link, you can find board certified physicians in various medical specialties. Under the "Other Resources" link, there are lists of local libraries which provide services to consumers and a list of medical associations by health topic, for example retinal disorders. NAPE has a medical advisory committee whose members may be available to your local physician on specific PXE issues. Your local doctor can contact them directly to discuss your problem. If one can travel, these physicians may be contacted for an appointment, but it is important to build relationships with physicians close to home.

Finally, it is of great importance to recognize our own responsibility for our wellness, both physical and emotional. NAPE's mission is education and support of PXE patients. There is much we can do to make our lives better and in the process we will be better able to identify and work well with our physicians.