Thursday, July 30, 2015

MEET EZRA: RASOPATHIES SYMPOSIUM

A couple weeks ago we had the privilege of attending the 4th International RASopathies Symposium in Seattle. (The RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Noonan Syndrome is one of these rare genetic conditions).


The first night of the scientific symposium was a poster session where Ezra was quite literally a poster child for Noonan Syndrome. We proudly stood by this beautiful poster that was put together by the RASopathies Network (a compilation of our photos and text) to answer people's questions about our NS journey with Ezra. We had the opportunity to talk at length with a reporter who is writing a book on advancements in genetic testing and how those advancements are helping to improve the quality of life for the individuals affected.


We also had the opportunity to meet Lisa Schill, Vice President of the RASopathies Network (pictured above on the left with her adorable son Max who has NS), who is one of my heroes. The tireless work and advocacy this woman is doing for the Noonan Syndrome community is unprecedented and I am so thankful for all that she does to make the future brighter for Ezra and his friends. We were also blessed to meet Milena (pictured on the right) and her family. Their son Brycen has NS and he and Ezra had an immediate (and adorable) connection when they met for the first time:


Judah and Lisa's son Max were fast friends too:


This was our family's first opportunity to attend an event about NS. And other than meeting our sweet little girlfriend, Andi, who lives in a neighboring town earlier this year, we had never met another child or adult who is affected by NS (in person). It was such a privilege to meet Max, Brycen, and Landon....and some beautiful women with NS including Becca, Michelle, and Judith (who is busy getting her PhD by the way!).


For the first time we also got to speak with NS EXPERTS! Ezra has been the first patient with NS for many of his doctors, so it was such a blessing to be able to ask questions to doctors who have spent years with multiple NS patients and who have devoted their careers to learning more about Noonan Syndrome and how to best care for the wide spectrum of issues it causes.


And if there weren't already enough highlights from the weekend, Ezra also had the honor of being photographed by this award winning former fashion photographer and phenomenal human being, Rick Guidotti, who has spent the last fifteen years of his career challenging traditional definitions of beauty and empowering those with genetic difference through his stunning photography and newly released and highly acclaimed documentary film, "On Beauty." Please, please take a minute to listen to Rick's TED talk or read/watch more about the film. We cannot wait to see the photos he took of Ezra and hope our paths cross again soon!

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