At one point following your diagnosis, you may have wondered, “Is keratoconus considered a rare disease?”
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Keratoconus, a progressive eye condition in which the cornea weakens and thins over time, affects approximately 1 in 2,000 individuals in the US. However, some estimates suggest that the incidence may be as high as 1 in 400 individuals.
Being diagnosed with a rare disease might seem scary, and in the past, it might have left you concerned and worried about finding a community of others with the condition to connect with or even a physician to treat the condition. Today, however, with advancements in diagnostic tools, the availability of FDA-approved treatment options and widespread insurance coverage, the process of treating keratoconus has evolved.
Finding Your Community
For anyone living with a rare condition, there may be a sense of isolation, not knowing anyone else who also has the condition. Similarly, it can be frustrating not knowing where to turn when it comes to finding a physician that is right for you or understanding your treatment options. For many of these diseases, the communities might be larger (and more active) than you think.
If you’re living with keratoconus, online resources and communities, such as the National Keratoconus Foundation or the Keratoconus Group, can be helpful when it comes to better understanding your diagnosis and the available treatment options. These are the most common places that patients go to seek out information about their diagnosis and to build relationships with members of the keratoconus community.
The last day of February is dedicated to raising awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. This is so important because 1 in 20 people will have a rare disease at some point in their lifetime and many remain undiagnosed. The more knowledge people have about a rare disease, like keratoconus, the easier it is to address the needs of those living with the condition.
Genetics also play a role in rare diseases. Creating awareness of a rare disease and the risk factors for developing it can help people recognize that they should be routinely screened to catch the condition early, especially if they have a family history of it.
Look at Pamela, for example, who is living with progressive keratoconus and was told that the condition could be genetic. After learning this, she noticed that two of her sons were experiencing symptoms similar to her own. Soon after, her sons made appointments to have their eyes checked and were diagnosed with keratoconus.
Keratoconus may be considered a rare disease, but with enhanced diagnostic tools and an increase in awareness of the condition, more people are being diagnosed earlier and more accurately. An accurate diagnosis, using tools such as a corneal topography device, can allow you or your loved ones to begin an appropriate treatment path faster, with the goal of stopping the condition from progressing further.
The Importance of FDA-Approved Treatments
Unfortunately, more than 90% of rare diseases do not have an FDA-approved treatment. This can make it difficult for people living with a rare disease to find appropriate and affordable treatment options. Often, treatment options are not covered by insurance because they are not approved by the FDA or are still considered experimental.
For years, the only available FDA-approved options for keratoconus were corrective lenses and corneal transplants. However, in April 2016, the FDA approved corneal cross-linking, the first minimally invasive therapeutic procedure to slow or halt the progression of keratoconus.
Available Insurance Coverage
Rare disease management is known to be extremely costly for people living with keratoconus and their families, especially for treatments that are not FDA-approved or still considered experimental, as they are not covered by insurance. Once properly diagnosed, keratoconus and other rare conditions may require lifetime management, which can carry significant costs that cover different components of patient care, from treatments to yearly specialized care.
However, in the last few years, more and more insurance carriers have created positive insurance policies for the coverage of FDA-approved corneal cross-linking for the treatment of progressive keratoconus. Major insurance carriers, such as Aetna, Cigna, and BCBS, cover FDA-approved cross-linking, so those living with keratoconus have greater access to this treatment option.
Embracing Your Diagnosis
It can be unsettling to learn that you are living with a rare condition, but a keratoconus diagnosis shouldn’t put your life on hold. If treated appropriately, there is no reason why the condition should stop you from living your life.
People who have been diagnosed with progressive keratoconus, and received proper treatment, such as FDA-approved cross-linking have gone on to live successful lives, whether it be through their career, education, or sports.
Did you know that there are high profile athletes who are living with keratoconus? They’re perfect examples of choosing not to let a rare disease diagnosis hold them back. They are able to play at the highest level possible in sports such as basketball, baseball, and football without having to worry about their condition. Professional baseball player of the San Diego Padres, Tommy Pham, in particular, is helping to raise awareness for keratoconus when he’s not out on the field (and sometimes even when he is).
While every keratoconus journey is different, sharing your experiences in online communities or your own social media channels may be helpful to others in a similar situation. You have the opportunity to become an advocate for the keratoconus community and a resource for others who may have just been diagnosed and are lost when it comes to available treatment options.
While Rare Disease Day may be on the last day of February each year, raising awareness for rare conditions, such as keratoconus, should take place throughout the year!