What is an Unknown Diagnosis?

There are hundreds of types of ectodermal dysplasias that have been identified and specifically named. Even still, some individuals may not receive a diagnosis of a specific type of ectodermal dysplasia.

Five individuals have ectodermal dysplasia, but do not know which type.A diagnosis can be unknown for many reasons. A few common reasons are below:

  1. The collection of symptoms a person is experiencing does not fit into a classic description of one ectodermal dysplasia syndrome.
  2. The person has not had genetic testing yet and their symptoms could fit more than one ectodermal dysplasia condition.
  3. Genetic testing has been done, but did not result in a diagnosis. Instead, results may have been negative (no mutations in the known genes tested causing ectodermal dysplasia) or uncertain (the gene showed a variant – or difference – but it is not known if this difference causes ectodermal dysplasia or is just part of typical variation among our genes and has no effect.)

Benefits of a Specific Diagnosis

You may not always be able to uncover a specific diagnosis for your condition. However, if the reason your diagnosis is unknown is because you have not had a formal evaluation or genetic testing then you may wish to consider doing so. There are many benefits of a specific diagnosis.

While there are many potential positive impacts of a known diagnosis, some people also feel there can be drawbacks or limitations. Simply put, knowing your diagnosis can be overwhelming. For some people, this is more overwhelming than navigating their care without a diagnosis.

Specifically, genetic testing not only affects you, but the results can have an impact for your family. While there are laws in place to protect you from genetic discrimination (the Genetic Information Non-discrimination Act, GINA), some people still feel there is a financial or insurance risk to having a diagnosis, specifically a genetic one. Pursuing a diagnosis, especially a genetic one, is a personal decision and your doctor(s) and/or genetic counselor can help you further understand and weigh your options so you can make a fully informed choice.

 

Managing Your Health with an Unknown Diagnosis

While a diagnosis can be helpful, if your healthcare providers cannot pinpoint one do not despair!

Your healthcare team is still able to take care of you and will come up with a plan to manage the symptoms you are experiencing. Sometimes, even without a genetic blood test, we can get a good sense of how a condition might be passed through your family to help understand what risk your current or future family members might have to also be affected by ectodermal dysplasia.

Scientific and medical knowledge is constantly changing. We’re discovering new conditions, syndromes, and genes every year — what is undiagnosed today, maybe diagnosed tomorrow! The best way to learn of these updates is to stay connected to us.

 

Additional Resources

The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) and the Undiagnosed Disease Network  are two programs specifically for individuals who are living with an unknown diagnosis.