Category: PURA Gene

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London Bound

Two years ago this summer Garreth and I were preparing for Aidan’s spine surgery. There were a lot of logistics and emotions to deal with. Strangely enough, hospital visits are the sweet spot of our marriage. We function well as a team and find the ability to be tender and kind. Two days after Aidan’s spine surgery, when I came home and Garreth was on duty, I got a call from our geneticist saying she had...

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Happy Birthday

It’s PURA Syndrome’s first birthday. It seems like a strange thing to celebrate – “Hey, I know why my kid is sick!” Before Aidan’s diagnosis, as in, for the first 13 years of his life, we found things to celebrate even when we were struggling. It’s a matter of survival. I believe the Medical Mom’s eye is trained on good things. We got into our groove of living without a diagnosis for Aidan, still feeling...

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Receiving a Rare Diagnosis

You met Sarah when she wrote this beautiful poem about our PURA gathering. Now here she is again telling the story of her daughter receiving her PURA diagnosis. One year ago today, my life changed. Alvie was two weeks old. Ryan was back at work and Audrey was at the sitter’s. Alvie was sleeping in my arms after nursing. It was the middle of the afternoon and my phone buzzed. I didn’t know the number...

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Meet Anthony – The Face of Resilience

Anthony’s story as told by his mom Elizabeth: Our baby boy, Anthony just turned 1. He just started rolling over and is trying to sit up. There was a time when he was a newborn when we didn’t know if we would ever see this. These are huge milestones for him. This is because he was diagnosed with Pura Syndrome. He has sleep apena and low muscle tone so he has a tracheostomy to help...

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My PURA Gene Family – In Pictures

The quick and dirty – Aidan lived without a diagnosis for 13 years. Last year we found out he has two mutations on his PURA gene. Shortly after that we started meeting other families online with the same diagnosis. The longer version is here and the poetic version is here. In May we gathered in person. It was incredible in so many ways. Here’s the story in pictures (all the good pictures credit to Rick Allen) All...

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My PURA Gene Family – In Poetry

I’m very excited to introduce you to a fellow PURA mom. This is Sarah, mom of the adorable Audrey and Alvie. Here is her reflection of our get together in May.     I am at the PURA Conference in Connecticut. I am here. I am here for you but I am also here for me. I am here to breathe. To take breaths. I n   a n d   o u t. Instead...

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My PURA Gene Family – In Words

My son Aidan was born with an undiagnosed disability and remained undiagnosed for 13 years. It came as a total shock to us that there was even such a category as “undiagnosed”, that doctors sometimes really don’t have the answer. So we lived for years with more questions than answers, at first fighting hard to find them, and then relaxing into the hopeful possibilities of each day. At times I’ve felt frustrated and isolated by...

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Meet Audrey: The Face of Light

There has been a lot going on in Aidan’s genetic world. First, we’ve met eleven other families with the same diagnosis. Second, we’ve managed to gain the attention of several researchers. Third, and this part may be my favorite, some of us PURa moms are getting together in a few weeks to meet each other in real life. I can’t wait to tell you more. For now, go like our Friends of PURa Syndrome Facebook...

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PURA gene and Rare Disease Day

Reposting for Rare Disease Day. It’s estimated that 1 in 10 people in the US have a rare disease. Having a rare disease means it can be more challenging to get appropriate and covered services and treatments. ***** I have something special to show you, a little piece of yourself. But first let me tell you why it’s so incredible to me. My son Aidan was born 13 years ago with an undiagnosed developmental disability so for...

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PURA and Simple

PURA and simple….except that it’s not. This new finding, this PURA gene gone wrong, it’s anything but simple. Thirteen years without a diagnosis and now we have one. That’s a lot to take in. It feels less like closure and more like a new beginning. And speaking of beginning, this new diagnosis has taken me back to Aidan’s early days. I had so many questions and no one really had answers. I was mostly overwhelmed, scared...