This Time It’s Personal

Rare Aware

Another year and another Rare Disease Awareness Month has come and gone. As we recognize Rare Disease Day, we should also strive to raise awareness of all that goes unseen when it comes to people living with a rare disease. Rare Disease Day is not just recognized here in the United States, but in at least 103 countries around the world - indicating that rare diseases are widespread. Data state that there are more than 300 million people worldwide who have been diagnosed with a rare disease. Many of these patients experience daily chronic and debilitating pain, and sometimes have deadly outcomes.?

The Unseen

For those living with a rare disease, it quite often is not outwardly visible. The reasons for this are many, but unbeknownst to friends, neighbors and relatives, countless people with rare diseases are struggling. Most of us don’t recognize that struggle because the condition’s effects and symptoms being experienced are going on inside the body. To illustrate this, nerve and neurological effects, chronic joint pain, and exhaustion are just a few examples of symptoms happening internally for rare disease patients. With so much unseen, there can be no real understanding of the struggles that go on within a rare disease patient’s body and in their home - well out of the public eye. It should be understood that for rare disease patients and their caregivers there is also an exhaustive psychological toll that results from a constant battle to stay one-step ahead of an unseen enemy.?

Daily Diligence

Rare diseases can be diagnosed starting in utero, or present at any stage of a person’s life. Rare diseases can be a result of environmental elements and exposures, or have no attributable factor, or can be genetic in origin. Once diagnosed, rare disease patients more often than not have a lifetime of dealing with chronic ailments and a disease that will never be resolved.?

No matter how someone has developed their rare disease, or when they were diagnosed, it is a daily battle to suppress symptoms. They will need to be vigilant in their own health advocacy from day one of their diagnosis and every day after that. They forever need to be health aware and cognizant of what it takes for them to get through their day without a flare-up, an episode, or an incident that stops them in their tracks and further reminds them of their rare disease daily struggle. All they really want is to simply have “a good day.”?

It’s Personal

For me, this is all very personal. I do not have a rare disease - my wife does. In fact, she suffers from two chronic rare diseases. One is of idiopathic origin. Through the unrelenting efforts of a small grass-roots patient and caregiver-led initiative, a handful of global physicians and scientists are researching care options for the idiopathic disease she has. Her other rare disease is genetic and causes debilitating, painful effects throughout her body. Like many rare disease patients, she was only definitively diagnosed after culminating years of misdiagnosis and compounding symptoms. There was a 50% chance that my wife’s genetic disease could be passed on. Unfortunately, we have learned that our son has the rare genetic disease that my wife has.?

There is a sliver of a silver lining here. Through the knowledge we have gained managing my wife’s genetic rare disease, we have been able to get an early start addressing our son’s health needs proactively.?By doing this we hope to minimize his pain and maximize his strength and rare disease awareness.?

To be more rare aware and to get information about Rare Disease Day and how you can support patients, caregivers, physicians and researchers around the world, I recommend that you check out the website RareDiseaseDay.org?