PURA Perfect Soul Cycle Event

October 24, 2019 @ 6:30PM — 7:15PM Eastern Time (US & Canada)

Soul Cycle Event Benefiting the PURA Syndrome Foundation

PURA Perfect Soul Cycle Event image

Join us for a PURA Perfect Soul Cycle Event!

There are currently no tickets available for this event, but you can still make a donation.

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To our family and friends,

“He's the hardest working guy I know." It's a phrase we use often to describe our Jack.

On June 20th, 2017, Jack Ginder completed our family. We had no idea what the next two years would bring - incredible highs and lows.

After a perfect pregnancy, we didn't anticipate anything out of the ordinary. However, when a nurse came in during the middle of the night that first evening at the hospital noting that Jack was extra sleepy and not eating well, we were concerned, but were sure he’d come around.

We didn’t realize this was the just the start of a rocky road ahead for all of us.

After a day in the more intense nursery on the "regular" floor, they told us we had to go to the NICU where there would be a higher ratio of nurses to babies. You can’t really know what the NICU experience is like unless you’ve been there, but it’s not one you would wish upon your worst enemy. Despite that, we found great camaraderie with the fellow parents, each with their own gripping tales, just eager to go home and start life with their new babies.

When we were thrust into the NICU - it was one thing after the next. IVs, muscle pricks, MRI, metabolic testing, genetic screenings. We were relieved after each time a test came back negative, but why was that really a good thing?

Once we finally could bring him home, another chapter began. We got Jack into early intervention, even though we still didn’t understand what was wrong. Was he born early? Why was he so sleepy? The majority of Jack’s early PT sessions were spent just trying to keep him awake.

At home, Jack began working with an incredible team of therapists, but we still didn’t have answers. His doctors suggested genetic sequencing to try to understand the cause of his sleepiness and low muscle tone.

On January 2, 2019, our world changed forever when we got our diagnosis. Our neurologist told us that Jack had PURA syndrome. We were dumbfounded to hear of this rare disorder that just 300 kids have been diagnosed with in the entire world. How? Why? Is there a cure? What do we do next?

As we learned more and processed, we connected with the PURA Syndrome Foundation. Meeting other families with PURA kids turned out to be a blessing on so many fronts. We no longer felt alone.

We’ve also learned that there is hope, and that science is moving forward to help kids like Jack. At a PURA scientific conference in Boston in June 2019 we heard firsthand from researchers around the world working to find a way to cure PURA, with multiple approaches — from mouse models at Temple University, tadpoles in Cambridge, CRISPR-Cas9 gene editing technology in Munich — working to expand the knowledge base of this incredibly rare disease and find a path forward. All of it is being pursued, as we speak, to help our kids.

While we are doing everything in the interim to keep Jack working hard, and give him every opportunity to succeed through physical therapy, occupational therapy, speech therapy, pool therapy, and more, we want to support the scientists working hard to leverage cutting-edge science to cure PURA. A gift to the PURA Syndrome Foundation on Jack’s behalf will go toward funding this critical research to help not just Jack, but all of the families with children who are #PURAPerfect. Thank you for your compassion.

Love,

Jean Weinberg Czepiel and Kyle Czepiel


ABOUT THE PURA SYNDROME FOUNDATION


PURA Syndrome is an ultra-rare genetic condition associated with intellectual and physical disability, as well as a host of medical issues including, but not limited to seizures, respiratory problems, temperature instability, vision problems, and orthopedic issues. The PURA Syndrome Foundation is a 501(c)(3) tax-exempt, non-profit corporation whose mission is to serve, educate, and fund research for families affected by PURA Syndrome. The Foundation hosts an annual conference each year, bringing together family, researchers, and clinicians to share resources and support each other. Educational materials on PURA Syndrome have been translated into multiple languages to better serve families scattered all across the world. The Foundation has also invested in critical research to increase our understanding of this condition. Information obtained through this research will help guide clinicians and researchers toward effective treatments and therapies, thus improving the quality of life for every individual diagnosed with PURA Syndrome.

Can't join us this year? A donation would be most welcome! Company matches are also encouraged and appreciated. All checks can be mailed to the attention of Damon Fisher at the PURA Syndrome Foundation, 129 Shelf Rock Road, Driftwood, TX 78619. Thank you for your support of the PURA Syndrome Foundation!

To learn more, visit our website at www.purasyndrome.org.