Rare Disease Day 2018

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Rare Disease Day 2018 is upon us and I am thankful that I am able to share my story.

When I 10-years-old I was diagnosed with PTEN Hamartoma Syndrome which is a 1 in 200,000 chance of getting. Being that young and knowing you now have to live your whole life with a genetic disease that has no cure is kind of scary.

Every year I have to get my thyroid checked to make sure that the medicine I’m taking is still working for my body. I have to see a dermatologist once a year to make sure that there are no new moles, lumps, bumps and anything else on my body. Since Cowden Syndrome increases my risk for breast cancer, I have to check my breasts regularly to make sure there is nothing out of the ordinary. This syndrome also increases my risk for uterine cancer so I have to see a gynecologist every six months to make sure that I don’t have cancer. This is only the beginning, who knows what my future holds.

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If you look closely enough, you can see the bump on my left arm!

Being 21-years-old and living with this syndrome is anything but normal. But it is my kind of normal.

Rare Disease Day helps to raise awareness for people like myself living with a rare disease. 1 in 20 people have a rare disease they will have to live with for the rest of their lives. Just like Cowden Syndrome, there is no cure for many other rare disease out there.

I want to thank all of my friends, family and loved ones who have been by my side through everything. Every doctors appointment, procedure, and everything in between.

“Be strong and courageous, do not be afraid, do not be discouraged, for the Lord your God will be with you wherever you go.” Joshua 1:9

Until next time,

Leah.

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