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FORE! Reflections from our Drive for Diagnosis Golf Classic

Jennifer Sills • Apr 25, 2019

It was a warm and sunny day on Monday April 22, 2019 in Tarzana, California. It was a perfect day for golf! We had a tremendous turn out for the Drive for Diagnosis Golf Classic at El Caballero Country Club. 113 Golfers came out for our 1st Golf Classic to support our collaborative efforts with TGen’s Center for Rare Childhood Disorders to diagnose and cure Okur-Chung Neurodevelopmental Syndrome. Golfers traveled from as far away as Hawaii and New York to Drive for Diagnosis!


Golfers enjoyed a morning massage from Be Mobile Massage, breakfast burritos from Low Key Burritos, a very competitive chipping contest and swag from a pop-up Titleist/Footjoy shop. On course, Mike’s Hard Lemonade stand and Jet 60’s margarita machine together with Jersey Mike’s Subs kept our golfers happy and satiated. No one had a hole in one but the field was quite competitive and posted some low scores. We closed the evening enjoying Wente wines, some heavy appetizers, awards presentation and closing remarks. Mellisa and the Charity Angels helped us raise over $62,000 on the day of the golf tournament. Our first fundraising event was a huge success. We raised $284,603.


We are grateful to our Co-Chairs Jennifer Sills and Michael Kaplan, Jr. for their leadership. Our shining stars, our golf committee, worked tirelessly on this event. Thank you to Liz Kaplan, J. Michael Grossman, Joey Behrstock, Mike Grossman, and Avisha Patel for your dedication, support and hard work.


The event wouldn’t have been possible without our Volunteers! Volunteers make the world go round! Some of our volunteers even flew in from San Francisco to help make the golf classic a huge success. A special thank you to Avisha Patel, Catherine Landers, Cindy Cooney, Denise Grossman, Ellen Rann, Gen Garcia, Jasper Sills, Jenna Rosenbloom, Jennifer Bravo, Katie Grossman, Lee Sandusky, Michelle Meyerhoff, Mona Pine, Susan McHugh, Teri Handelman, Tracy Phelps and Venessa Montanez.


Thank you to our Title Sponsor, Performance Team, for leading the way to a record-breaking fundraiser. We are incredibly grateful to our major sponsors for their support and generosity: The Dorrance Family Foundation, Allen & Anita Kohl Charitable Foundation, David & Amanda Lebowitz Family Foundation, Andy & Ashley Lebowitz Family Foundation, Pinnacle Contracting Corporation, The Karsh Family Foundation and Joan & Charlie Davis.


Funds raised from this event will go to support CSNK2A1 Foundation’s mission and to building a CSNK2A1 Foundation Research Program at TGen.


This tournament provided an incredible opportunity to bring awareness to individuals who have never heard of Okur-Chung Neurodevelopmental Syndrome and to introduce our golfers to the groundbreaking work TGen Foundation is doing in the field of genomic research.


With our donors’ support, we are turning Hope Into Action. Stay tuned for details about our next tournament.


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Newborn Genetic Screenings
By Penelope Gatlin 05 Oct, 2023
By Penelope Gatlin October 2023 When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner. Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so. In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.
Autism Diagnosis
By Terri Jordan 23 Aug, 2023
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