I am a patient advocate who works with people with medical problems and disabilities. When a doctor diagnoses a person with a disease, it can be sad and scary. But, once a problem has a name, people can learn more about it. They can talk or write to others with the same problem. They can join groups or clubs for their disability. They can visit doctors and hospitals with special knowledge of their problems.

Sadly, some people never get a name for their disease or disability.

These people visit many doctors and hospitals. No one knows what is wrong. There are no clubs or groups for their illness. Doctors do not know how to help them. These people may feel very alone. They may be confused as to why doctors can’t tell them what is wrong. They may wonder if they don’t have a real disease or a disability at all.

Not finding a diagnosis happens a lot.

Most people do not know that some diseases have no name yet. Science and medical care are getting better every year. Still, there are many things scientists and doctors do not know. Scientists and doctors do not know every disease a person can have. Why is it some diseases or disabilities have no name?

How a Disease Gets a Name:

In the past, doctors named diseases for the problems they caused in the human body. If five babies were born with problems moving their legs, the doctor would say all five had the same leg disease. The name of the disease came from its symptoms.

Looking at Human Genes:

Today, some doctors still use old disease names from symptoms. But more doctors today want to know the true cause of a disease. To find a disease’s true cause, doctors look at our genes. Genes are inside our bodies. They tell the parts of our body how to work. We are born with our genes. We keep the same genes our whole lives. Scientists know that a problem in our genes will often cause a disease.

Finding a gene problem is the best way to name a disease.

Today, if five babies are born with leg problems, the doctor will test a little of their blood to see their genes. Even though all five babies have leg problems, they may not have the same gene problems. The babies will get different names for their diseases, if they have different gene problems.

When we can’t find a gene problem:

Sometimes, doctors cannot find the gene problem causing a person’s disease. This happens because humans still have a lot to learn about genes. We don’t know how to find every gene problem in the body. We don’t know why some gene problems cause diseases, and some gene problems do not.

When we can’t find a sick person’s gene problem, their disease has no name. A person with a disease that has no name is called undiagnosed. Today, many people with diseases and disabilities are undiagnosed. These people and their doctors are waiting for new tests to find their gene problems. They are waiting for scientists to learn more about their diseases.

Living With No Diagnosis

For a person with a disease that has no name, life can be hard. Insurance companies may not want to pay for the person’s care. Doctors in special clinics may turn the person away, until their disease has a name. Groups for people with disabilities and diseases may not let the person join. Undiagnosed people may end up feeling alone as they live with their disease.

Having no diagnosis can feel lonely or scary.

But, even without a name for a disability, people can find help. A special group of doctors and scientists work for the US government to study diseases that have no name. They work at the National Institute of Health (NIH). The NIH has a page with tips for people who are undiagnosed.

These can be found at: https://rarediseases.info.nih.gov/guides/pages/24/tips-for-the-undiagnosed

 Another pace for undiagnosed people is the organization SWAN. SWAN stands for Syndromes Without A Name. SWAN is a group for people who have no name for their disease or disability. They keep a website at: http://swanusa.org/

At the SWAN site people can share stories. People can find others who also have no name for their disease. They can find a place to be together and share their daily lives.

Working with each other, people with no name for their disease can find hope. They can work through their struggles, and support new medical research.