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Rare Disease Day is celebrated annually on the last day in February. This year’s date is especially fitting, seeing as leap day is the rarest day of the year.

What constitutes a rare disease? A rare disease affects fewer than 1 in 2,000 people. Regardless of which rare disease someone may be diagnosed with, there are universal challenges they face, including a lack of research and knowledge surrounding the disease, early misdiagnoses, and a lack of access to treatment and quality healthcare for rare diseases.

It is important to spread awareness on rare diseases so those affected and their families have equal opportunity for healthcare and access to necessary treatment.

The ATI Foundation supports people with varying diagnoses, including many with rare diseases, like Rachel.

Rachel is diagnosed with 2q37 Deletion Syndrome. 2q37 deletion syndrome is so rare that there are currently only 115 documented cases worldwide, including Rachel’s. Causing delays in almost all areas of development, Rachel needs help with most aspects of daily living due to her disorder. 

Never letting her diagnosis get her down, Rachel loves doing all things any other teen loves, especially playing baseball!

To learn more about rare diseases, please visit Rare Disease Day’s website.


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