Can we all agree that cancer is one of the scariest and worse diagnosis one can be given? 

I can only assume your response was a resounding yes. I'm certain by now you must personally know of at least one person that has went through this dreadful ordeal. They were most likely whisked away into a treatment protocol at an almost dizzying pace. 
 

What if you had visited doctor after doctor for more than three years and nobody could tell you what was wrong? 

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What if your child's pediatrician told you that they didn't have an answer for the bizarre set of symptoms plaguing your daughter/son? 

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What if you received the news that you have an incredibly rare disease only to find out that there isn't any treatment? 

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Well those three questions are very much the hard to believe reality of a patient with a rare disorder. It takes a mind blowing average of seven years for a patient to get an accurate diagnosis. There are more than 7,000 known rare diseases and less than 5% of those have an approved treatment option. Rare disease is actually not that rare, on average 1 out of 10 people will be diagnosed with one in their lifetime. I'll never forget the day I received the call that one of my loved ones received a diagnosis. In their case, the condition is so rare, they were identified as the 200th known case worldwide. There still is no cure, only painful treatment options. Given my long history working with healthcare and life sciences organizations, I felt compelled to begin volunteering to help those in need. 

 

In order for the necessary changes to be met a massive revision in policies, funding, legislation, education, technology, and how information is exchanged needs to occur. I began working as a Rare Disease Patient Advocate/ Agent of Change in 2020 lending my talents to be a voice for those that have unmet needs. Additionally, I serve as the Programs Manager (Volunteer) for a Rare Disease Patient Support Nonprofit.  

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