Rare Disease Report

Dare to Dream for Change On Rare Disease Day

FEBRUARY 13, 2016
Every year, on the last day of February, Rare Disease Day is celebrated and recognized by those who live with, care for, or know individuals with rare diseases across the world. The idea around this day is to create awareness between the universal public, legislators, healthcare professionals, and researchers to name a few.

There are 7000 rare diseases in the world to date and countless of them do not have any treatments or cures. It is my sincerest hope for that number to decline soon!       
For many of us in the rare disease community this day is of importance as it gives our voices the opportunity to be heard. Patients, caregivers, foundations and/or organizations are able to use this day as a greater platform for sharing our stories of significance in the areas of treatment or cure research, Food and Drug Administration (FDA) approval processes, and the effects policy makers have on the lives of patients. And, to give people with rare diseases hope for the future.
I feel for patients and their caregivers who are hoping and praying every day for a treatment or cure for their or loved one’s rare disease. The community of rare disease needs more charitable pharmaceutical companies that will take on rare diseases so that more headway can be made in the area of research for treatments and/or cures.

It is incredibly heartbreaking when I see that FDA has denied approval for a rare disease treatment. I cannot imagine seeing the possibility of the benefits of a treatment or cure on a patient and then having to come to terms with not being able to receive it.
I myself know how fortunate I am as a person with a rare disease (Mucopolysaccharidosis type VI) to have a drug treatment such as Naglazyme. When I was diagnosed at the age of four there was no treatment. There was discussion of someday possibly seeing an Enzyme Replacement Therapy (ERT) that would benefit my health and life greatly.

About ten years after my diagnoses I saw the day of ERT and was one of the first participants in phase II of the clinical research enzyme trial of Naglazyme. I feel exceptionally privileged to have been able to aid BioMarin (pharmaceutical company) in the process of obtaining FDA approval for Naglazyme.
It is my opinion that receiving weekly infusions of Naglazyme is a miracle. As I had stated earlier, I realize that the commitment and passion of the people at BioMarin is what enables me to live a healthier and productive life. I will be forever grateful for my weekly treatments, because I know there are still so many rare diseases that do not have a treatment currently.

That is why I try to do my part on Rare Disease Day to lend a hand for those others by spreading awareness. Every person has a story worth telling. You just never know how or who you might inspire and help make a difference.

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