Rare Diseases FAQ

Frequently Asked Questions About Rare Diseases

How can you find out about clinical research on rare diseases?

There’s a web site that was just set up a few years ago by the federal government. It’s called www.clinicaltrials.gov. It’s important to remember “.gov” because there are some commercial sites that have similar names. Every research project receiving any money from the U.S. government must be listed on this site. It’s a requirement. You can type in the disease name and find all sorts of information about the studies, where they’re being conducted, what is needed to be eligible, and who to contact to learn more about participating. If you don’t have a computer, ask your local librarian to help you search on that web site.

How can people help a family member with a rare disease get the best possible treatment?

The Internet is a wonderful tool for finding a doctor and hospital with experience in treating your family member’s disease. Ask your doctor or the patient support group for your disease for help. Doctors understand the importance of involving someone who has experience with the disease. You can also search a web site,www.pubmed.gov, to see what has been published lately about your disease and who has written articles about it in medical journals.

It’s usually best, with rare diseases, to be treated at a teaching hospital affiliated with a university, rather than a smaller community hospital. The teaching hospitals would be more likely to have experience with rare diseases.

Another very important thing to do is to find out if there is a patient organization for your disease. These organizations can be tremendously helpful in many everyday ways, and they are also a wonderful way to network with other people who have the same disease. Patients can learn a lot from each other, and they can alert each other to other sources of help. Many of the new treatments for rare diseases that are being developed today were made possible because of the involvement... through fund-raising and other ways... of patient organizations. When you read in the newspaper that a gene has been identified for a certain genetic disorder, or that a new drug has been approved, you can bet that a patient organization played a significant role in that research.

Where can you go for information about rare diseases?

The Internet is a wonderful tool, and even if you don’t have a computer you can get access to it through your local library, through a senior center, or through other social service offices.

If you go online yourself at home, just remember that there is no guarantee that everything you read online is accurate. It’s important to use web sites you can trust, and that includes ones from the federal government, from universities, from teaching hospitals, or from non-profit organizations. The National Institutes of Health(www.nih.gov) has some excellent web sites with information about certain rare diseases. One NIH web site, www.MedlinePlus.com, has good, understandable information. The Centers for Disease Control and Prevention (www.cdc.gov) also has some good information about some rare diseases.

Why does it take so long to get a diagnosis? How can we educate our doctors?

It’s difficult getting a diagnosis because there are 6,000 rare diseases, and the first doctor you go to may never have seen the particular rare disease you have. Genetic Alliance, NORD, and other patient organizations are working to raise awareness among physicians, and efforts such as the Human Genome Project have certainly raised awareness, but diagnosis is still a problem. A government study done in 1989 showed that it takes longer for people with rare diseases to get a diagnosis, compared to other diseases. That study was replicated on a smaller scale recently, and the numbers were about the same.

Is there anything you can do if you or your loved one, do not have a diagnosis?

This is a very difficult situation. It’s important to see the right kind of doctor for your disease. Also, it’s a good idea to keep a notebook, and write things down that seem significant so that you won’t forget to mention them when you see the doctor. You know your loved one better than the doctor does, so if something seems unusual or significant to you, chances are it is.

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