Friday, July 31, 2015


And because I like to keep things real, the weekend of the symposium wasn't all sunshine and rainbows...and pink cotton candy clouds. (Can you believe this sunset, though!? This picture was taken from the glass elevator of our hotel on our last night in Seattle).
I never thought twice about going to the symposium. It was in Seattle afterall, which is just a hop skip and a jump from where we are (plus a 6.5 hour drive on a Friday during rush hour, turns out). And what a wonderful opportunity. The chance to meet Noonan Syndrome experts AND Rick Guidotti, wow! But I never thought about what would happen after I got to the symposium. Like it never even crossed my mind. I was hopeful that I would meet other families with kiddos affected by NS and maybe some adults as well, but I didn't think about how I would feel about that other than happy.

Well, happy wasn't the only feeling I felt. Let me first explain that along with the RASopathies Symposium, there were also the CFC and Costello Family Conferences happening at the same time. CFC and Costello are also RASopathies syndromes, but they have many more outwardly physical symptoms than Noonan Syndrome. I've seen photos of people affected by all the RASopathies online...but this was my first time seeing these faces in person. And it was hard. Hard as in I practically had to run to the bathroom to keep from bursting into tears when I first stepped into the hotel. Even now I'm embarrassed by my reaction to seeing these uniquely beautiful kids in person. There is so much guilt that goes along with the fact that Ezra is only mildly physically affected...and the fact that things (although many have been excruciatingly hard so far) could be much, much worse. I'm still not sure how to process these feelings. They're the same feelings that come up when I'm reminded of our leukemia journey and how much worse it could have been. This stuff is HARD. And it just doesn't go away. "Easy" cancer journey guilt / not-as-severe-of-a-
syndrome guilt is an almost everyday occurrence.
There was also this realization over the weekend that for us and these other families, this was how we were spending some of our precious "vacation" days. And that this is our life from here on out. Like okay, if we want to be informed, and if we want to make these important connections with our genetic condition community, a large portion of our vacation days and spare change will be spent on these types of conferences for the rest of Ezra's life. And that's not a bad thing, but it's not a "normal"'s not what most families picture when they're planning their much anticipated vacations. And what does this mean for Judah? How are these types of "vacations" going to shape who he is and how he feels about his brother?? Well, I'm hopeful that they will fill him with compassion and a greater capacity to appreciate his brother and those who are "different." Still, it's a crazy thing to be pondering about our five and two-year-olds' futures.

And perhaps the hardest realization of the weekend was this: some of the adults we met who are affected by NS, although vibrant and wonderful and capable, have spent their entire lives being bullied because they look different. They deal with constant pain and anxiety and depression. And while that might not be the story for every person who has Noonan Syndrome, it's not the first time I've heard this...and it is overwhelming to think about this kind of future for Ezra. It is heartbreaking to hear that on top of all the medical issues, all the surgeries and procedures, there might still be these underlying issues that there just aren't answers for.

I don't want to end on a gloomy note, because that's not my thing either, so I just want to reiterate how thankful we were for this symposium...hard-to-feel-feelings and tough realizations included. We are so thankful to live in a time when there are so many medical advancements and a greater understanding of genetic differences. We're thankful to the doctors who aren't content with unanswered questions. We're thankful for people who look beyond the diagnosis and beyond traditional definitions of beauty to see our son and these people as the miraculously beautiful and amazing individuals they are.

And although it's not always easy, we are looking forward to the good stuff that lies ahead of us on this journey. We are committed to continually expanding our knowledge. We are
committed to sharing our knowledge. And we are excited to see how our hearts and our perspectives on what is "normal" and "beautiful" shifts and changes and grows along the way.

Thursday, July 30, 2015


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!