My daughter Meghan was diagnosed with Cowden’s Syndrome, (a mutation on the PTEN (Tumor Suppressor gene) in the fall of 2011. Her medical history was dicey to say the least, and we were pushed to genetics by her physical therapist. A conference and a blood test confirmed the diagnosis and eight weeks later we got my positive results as well.

Since the diagnosis, there has been a whirlwind of tests and surgeries for both of us. But, Meghan has remained strong, and wise well beyond her 11 years. She began celebrating Rare Disease Day in 2013, drawn into the logo of the Global Genes Project, as her “identity” piece. That year she gave out ribbons. In 2014 she held a fund raiser at her school. After she saw the money come in for the donation she was hooked. “Let’s do something bigger Mom!”

This year she really took charge. We went to several venues in the fall. She selected her favorite. She worked on publicizing the event. She helped design the Tshirts. She spoke to countless store managers to gather items for raffle baskets. The event took place on February 15th at the Hilton Garden Inn on Staten Island. 150+ people attended, including another family with a child who has Cowden’s – all the way from Colorado. Meghan prepared a 7 minute video on her life with Cowden’s Syndrome, and brought the crowd to their feet, while they reached for their tissues.

In the end the total raised was $12,200! The donations were shared between the Global Genes Project (“For the babies who can’t help themselves Mom”) and the new PTEN Hamartoma Tumor Syndrome Foundation (“So maybe someone can fix our PTEN gene.”) She truly was the driving force behind the entire event, and I couldn’t be more proud. She’s already talking about plans for next year!

Meghan and Lori Ortega

 

March is the Month to Share YOUR Story!

Do you or your child have a rare disease? We want to hear your story. This month we celebrate all patients and their families who speak out on behalf of their condition to raise awareness, connect with others and inspire the community. Make sure to share your story with us by writing to us here.

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