How can people help a family member with a rare disease get the best possible treatment?
With rare diseases, it's even more important for the family to be involved than it is with more common diseases. This is because there may be only a few doctors, and only a few medical centers, with expertise on this particular disease.

The Internet is a wonderful tool for finding a doctor and hospital with experience in treating your family member's disease. One thing you can do is search a web site such as PubMed to see what has been published lately about your disease and who has written articles about it in medical journals. Ask your family doctor to help you with this. You won't be insulting him or her. Doctors understand the importance of involving someone who has experience with the disease.

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. We have a list of teaching hospitals in each state, and you can call us to ask for the ones near you.

Another very important thing to do is to find out if there is a patient organization for your disease. There's a database on NORD's web site that you can use to search for an organization. Just type in your disease name, and you can find out what organizations exist, what services they provide, and how to connect with them. 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 I 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. You can also contact us at NORD, and we will be happy to send information to you through the mail.

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 like NORD and the March of Dimes. The National Institutes of Health or NIH has some excellent web sites with information about certain rare diseases. The CDC (or Centers for Disease Control and Prevention) also has some good information about some rare diseases. There's a web site called MedlinePlus that has good, understandable information.

Also, people can call us at NORD and talk to our genetic counselor and registered nurse. We will email information to them or send it through the mail. We'll also refer them to a patient organization specifically for their disease, if there is one.

Why does it take so long to get a diagnosis? How can we educate our doctors?
Getting a diagnosis is one of the problems that people contact us about frequently. It's difficult because there are 6,000 rare diseases, and the first doctor you go to may never have seen the particular rare disease you have. 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. There was a government study done in 1989 that showed that it takes a long time 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.

This just illustrates the point that it's REALLY important for families to be involved in the diagnosis and treatment process and to become advocates for their loved one with a rare disease.

Is there anything you can do if you, or your loved one, don't have a diagnosis?
This is a very difficult situation, and we get a lot of phone calls and emails from people who are having a hard time getting a diagnosis. It's important to see the right kind of doctor for your disease. People are always welcome to contact our nurse and genetic counselor to get their suggestions on the type of doctor who might be an appropriate starting point for them. Also, it's a good idea to keep a notebook at home, and jot down things 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 that it is.