. . . can be challenging. In addition to the physical discomforts and limitations, there is the added burden of dealing with most people's unfamiliarity with your illness. Over 5,000 rare diseases collectively affect 20 million Americans. Yet, most patients remain misdiagnosed or undiagnosed for a long period of time -- many remain undiagnosed for six years or more.

Rare disorders affect less than one out of every 100 people.. VHL, for example, is estimated to affect one in 32,000 people. Diseases like VHL have become known as "orphan diseases" and the drugs developed to treat them are called orphan drugs.

In 1973 only ten products were approved that would have fallen under today's definition of orphan drug. This was because the market was too small for pharmaceutical companies to consider it a worthwhile investment. In 1983, the situation changed when Congress passed the Orphan Drug Act. NORD was instrumental in lobbying for this act, which enables companies willing to develop orphan drugs to recoup the cost of researching and developing them by providing tax incentives and sole marketing rights. Since the Orphan Drug Act was introduced, over one hundred orphan drugs has been approved and dozens more are being researched.

If a drug therapy does exist and is available, it may well be very expensive. Then there are laboratory test costs, specialized equipment costs, caregiver expenses, and travel expenses to distant medical facilities. Even with adequate health insurance in place, co-payment expenses can be overwhelming. But the biggest cost of all is often the unseen toll that dealing with chronic illness takes on patients and their families and friends. When the illness is a rare disorder, there is the added difficulty of tracking down adequate information and hard- to-find support groups.

When you are looking for information about and referrals to sources of help, you will need a great deal of determination, perseverance and, most of all, hope. The following "Five Steps toward the Light" are meant to guide and advise you as you begin your search.

Five Steps Towards the Light

1. When you go to the doctor, write down any information that you want to share, including questions and observations. Be assertive -- patients should not feel intimidated by their physicians. Solid data that can be substantiated with published facts and/or physical findings in the patient can be medically important. If your doctor repeatedly refuses to learn from you, consider finding another physician.

2. Get hold of your medical records -- you can't remove them from a facility but you can get copies made and take them with you. This is particularly important if you have a rare disorder and are seeking medical care from a new provider. Try to get a second opinion from a specialized source, such as a major medical center or teaching facility.

3. Be aware that rare diseases can be as frustrating to the physician as to the patient, possibly leading the doctor to recommend psychiatric help. Sometimes, even the patient's family and friends have difficulty believing the patient is really suffering. Find a support group where you can get emotional and moral support as well as information about your illness.

When you start calling agencies and organizations for help and support, keep your information organized, accessible, and legible. Write a list of your questions and concerns so you will not have to gather your thoughts while on the phone. Make a note of responses to your questions, as well as the names of the people and agencies you contact, and their phone numbers. If the person you talk to seems rude or insensitive, try to stay calm. Don't forget that everybody has bad days!

4. Keep in mind the many local sources of help available from charitable, religious, and civic organizations. Also, the reference section of your local library may be able to find you useful referrals. Many national organizations have local chapters that may be listed in your telephone book. If there is no local chapter, and no toll-free number for the national group, you may prefer to contact them in writing. Make sure to write legibly, in block capitals if possible, and always include your complete name, mailing address, zip code and phone number (including the area code) in the body of the letter.

5. Always be hopeful. Be persistent, but not unpleasant. Have the determination to keep on trying. You can make a difference; better yet, you may even make the difference!

Remember -- every journey begins with a single step!

National Organization for Rare Disorders, New Fairfield, Connecticut, 1-800-999-NORD. For VHL, the VHL Family Alliance will be happy to answer your questions by phone, fax, or E-mail, and can refer you or your physician to sources of second opinions, 1-800-767-4VHL. For local assistance with counseling, support groups, transportation, and volunteers, consult your local United Way, Cancer Society, Brain Tumor or Kidney support organizations, and the Well Spouse Foundation http://www.wellspouse.org, wellspouse@aol.com. Counselors skilled in working with people with chronic illness may be found through Diabetes or Kidney organizations, children's hospitals, or large medical centers.

As published in the VHL Family Forum, 4:2, June 1996. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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