Ehlers-Danlos Syndrome: Sometimes Hoofbeats Do Mean a Zebra

"When you hear hoofbeats, think horses, not zebras."

This is a quote from Dr. Theodore Woodward. Its purpose is to educate doctors to look for the simplest explanation for symptoms first. In theory, it makes sense. After all, someone with stomach pain is more likely to have a simple stomach ache rather than stomach cancer. However, in practice, this principle has unintentionally created immense problems for many of those that suffer from rare diseases.

A Journey through Ehlers-Danlos Syndrome

My son and I both have a condition known as Ehlers-Danlos Syndrome (EDS). This is a condition that predominantly affects the body’s ability to make connective tissue. Thus, its impacts can be seen throughout the body as connective tissue is everywhere.

People who have EDS will often have overly flexible joints that can dislocate easily, elastic skin that bruises easily and has difficulty healing, and blood vessel walls that more easily rupture. The ways that EDS affects each person can be quite difficult and challenge everyday life, but because it is an invisible condition, you wouldn’t know just by looking at someone that they deal with pain and complications every day. In fact, there are several celebrities like Halsey, Sia and Lena Dunham, who all live in the spotlight, but on an average day, you would never know that they are dealing with the various challenges EDS brings to their lives.

While some people with EDS are able to largely live typical lives, others are impacted more severely by the condition. Some people become housebound or are unable to digest food, having to instead be fed by a tube. People with EDS are also much more likely to have other rare diseases, which can compound problems.

Even for those with relatively mild cases, EDS does have an impact on their lives, something my son and I can attest to. There are certainly good days and bad days. A recent CNN article detailed the lived experiences of a number of different people diagnosed with EDS. The article is filled with stories of struggle and redemption. It is also filled with stories of invisibility.

Hoofbeats Aren’t Always Horses

It is understandable to look for the simplest, most common solutions to problems first. However, somewhere along the way, this has created a situation where people with rare diseases simply never find answers. There are several reasons for this.

As the aforementioned article noted, a lot of times medical professionals may simply not believe people’s accounts of what they are going through. This has been documented far more often with women than with men. When doctors don’t believe something is wrong or believe you are simply exaggerating symptoms, it can be a nerve-wracking experience. Failure of medical professionals to listen to patients has even led to children being separated from their parents for fears of abuse when the culprit instead was a rare disease.

Another major reasons why rare diseases often go unrecognized for a long time is the fact that doctors simply do not receive training in the necessary warning signs. In a world full of specialists focused on specific bodily systems, things that impact multiple systems often fall through the cracks as warning signs noticed by multiple specialists may not be put together quickly to solve the puzzle at hand.

The result of all of these issues is stress on those who have rare diseases. People with EDS and other rare conditions often go years and sometimes decades waiting for a diagnosis. These are often times of frustration with no clear path towards answers. While it is understandable to look for horses, we need a medical system that also has an eye peeled for potential zebras.

Our Zebra Story

A zebra is the adopted symbol of people living with rare and invisible diseases. It was adopted largely from the quote cited at the beginning of this article. As it turns out, there are a lot of us zebras – several in my own little family. Chances are you know a few as well.

You can read a lot about our own story on this site. For others living with EDS and other rare diseases, it will likely ring a few bells. An important moment in our journey occurred when my son gave a class presentation about EDS and how it affects many different aspects of his life.

The presentation was well received by his classmates and teacher. In fact, one of the most interesting things was that afterwards many classmates approached with questions. They wanted to learn more about his condition and what living with it was like. Suddenly, this invisible illness seemed much more visible. It was made very clear that people truly cared.

It was from this realization that the WearIt. brand was created with the goal of raising awareness towards rare and invisible diseases. By the simple act of speaking up about EDS, my son raised awareness that his classmates then spread through their interest and care. WearIt. is about recognizing the lives of people living with these conditions and also raising awareness within the medical community.

Awareness is needed to support the understanding and faster diagnosis of these conditions. This is necessary for getting people access to treatments and preventing problems that can occur when someone is unaware that they have a condition like EDS.

One of the realities of rare diseases is that they often do not receive a lot of interest when it comes to research or funding. The result is that many of us anxiously wait for new treatments that take a very long time.

When we put on our WearIt. clothing, we stand in solidarity with others living with EDS and many other rare and invisible illnesses. We also stand in support of greater recognition within the medical community and advocate for the need for increased time and investment in research into these conditions.