Pictured (l-r): Linda Ross, Sasha Parise, Dave Hoffenberg, Rick Keuhl, Annie Keuhl, Chase Keuhl, Sal Salmeri, Colleen Collord, Kelly Spear, Peter Whittier and Shaula Holman.
By Dave Hoffenberg
You’ve seen a pie in the face in the movies and in baseball with a walk-off hit. Haven’t you always wanted to pie someone in the face? Here’s your chance! Head to Mogul Sports Pub Sunday, Sept. 13 at 5 p.m. for the second annual Pie in the Face Challenge. Eighteen local celebrities will be donating their time and faces to get pied for charity. One hundred percent of the proceeds go to the Phelan-McDermid Syndrome Foundation.
Last year the event raised $1,200.
For $22, you can choose two people to pie in the face. For those not able to attend but who want to get in on the action, pick two people (or pie one person twice) and receive a video of them getting pied! Email email@example.com, send a copy of your receipt and let him know who you want to pie. Attendees, bring cash or check or visit http://22q13.org/j15/ to donate. Write “Pie Challenge for Chase” in the donation box.
The 2015 Pied Pipers (Freshman Class)
Mike Solimano, president at Killington Resort; Chandler Burgess, interactive marketing manager Killington Resort; Erin-Elizabeth Tavegia, food and beverage at Killington Resort; Glenn Burres, bartender at K1 Base Lodge; Amy Fuller Ahlberg, “Queen” of the B Haus; Corey Shane Logsdon, executive chef at the Wobbly Barn; Justin “Koko” Restrepo, winter enthusiast at Killington; Nancy “Fancy Nancy” Koch, of the Killington Deli; Karri Barrett bartendress at Roots Restaurant; Christopher Thayer, partner Vermont Limousine & Shuttle/special events coordinator for Baker Distributing; Don Sady, Farrell Distributing; Jared Hall, business manager at Shearer Honda; Beth Roberts, trainer Killington Boot Camp.
The 2015 Pied Pipers (Sophomore Class)
Sal Salmeri, owner Moguls Sports Pub; Colleen Collord, Killington ski house captain; Linda Ross, bartendress Lookout; Kelly Spear, sales for Baker Distributing; Sasha Parise, GM Karr Group; Rick Keuhl, sales for Farrell Distributing; and DJ Dave Hoffenberg. There may be additional special guests at the event.
A Chance for Chase
Rutland residents Rick and Annie Keuhl’s son Chase was diagnosed with P-MS in January of 2012 after he suffered a 45-minute long seizure. He was the first child diagnosed at Dartmouth Hitchcock Medical Center with Phelan McDermid Syndrome. Rick Keuhl remembered the incident. “They handed us a small trifold leaflet that directed us to the Phelan McDermid Syndrome Foundation,” he said. “Through the foundation we learned of a bi-annual conference that the foundation organizes where we could meet families from around the world. It was an incredible opportunity to learn about and meet children with this incredibly rare genetic defect. It was then that we started ‘A Chance for Chase,’ which is a benefit fundraiser that helped us raise the money needed to attend the conference. We learned so much at the first two conferences, most importantly that we are not alone on this journey. Families around the globe help to raise funds for medical research and grants for studies related to Phelan McDermid Syndrome.”
Rick Keuhl started the Pie in the Face Challenge last year to raise funds for the foundation and help support the wonderful work that these parents do to advocate for all of their children.
“The P-MS Foundation has been our go to resource when doctors don’t have the answers, our family does,” Keuhl says. “It has put us in contact with families that face the same struggle as us. Without the foundation this road would be lonely and much more scary. At one of the conferences, a woman stood up and said ‘of all of the rare diseases out in the world, I feel lucky that our child has Phelan McDermid Syndrome because of the strength and love of this group,’ I now know what she means by that.”
Annie adds, “The PMSF foundation has brought together families for us to connect with. Families that know and understand what we face and deal with. Without that, we’d be lost. Also, it is so impactful that it is run by parents. For the rare disease that it is, the foundation is the little engine that could. Creating living histories and practice protocols on a once unheard of disease, and pushing forward to get researchers interested and on board with what this disease can teach the world.”
The ALS Ice Bucket Challenge was going around and Keuhl came up with this idea. Initially the challenge was to pie yourself in the face. Keuhl challenged me (DJ Dave Hoffenberg) and instead of just pieing myself, I turned it into a charity event and recruited some friends to join in the messy fun. There were some good pie challenges like Employee vs. Boss and Canada vs. USA. This year we are expecting Bar vs. Bar and Dos Equis vs. Budweiser as well as many friend vs. friend challenges.
The cost to pie someone is $22 because the disease is a deletion of chromosome 22. It is a very rare disease that only 1,000 children in the world have; 1 in 20,000 babies born. The Phelan-McDermid Syndrome Foundation is the leading non-profit organization in the world that advocates for those affected by the rare genetic condition called Phelan-McDermid Syndrome (PMS). The first support group was organized in Greenville, South Carolina, in 1998 by Dr. Katy Phelan. Families representing 20 of the first identified cases came together in the first multi-patient conference.
In 2002, parent volunteers formed the Phelan-McDermid Syndrome Foundation, named after Dr. Phelan and Dr. Heather McDermid, who were among the first researchers to describe the clinical and molecular features of PMS. Their mission is to offer family support, facilitate research and raise awareness of PMS. They are committed to connecting families, researchers, decision-makers and stakeholders and advocating for the special needs and rare disease communities. They want to improve the quality of life of people affected by PMS.
The families who have children diagnosed have more in common than just having a child with a disability. They rely on the practical and emotional support of other families that are going through the unique challenges every day. To date, the Phelan-McDermid Support Group has nearly 600 members worldwide.
There is no cure yet for PMS, but it is their goal to find effective therapies to help those with PMS, and, eventually, a cure.
Phelan-McDermid Syndrome is thought to be caused by deletion, or loss, of the terminal segment of the long arm of chromosome 22. This causes complications to the brain, mostly, but also affects the heart, kidney and other organs. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders.
There are a wide range of symptoms observed in people with P-MS. Like other autism-related syndromes, P-MS is associated with intellectual disabilities, sleep disorders and seizures. Most children with P-MS have moderate to severe delays and often do not develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems eating and sleeping. Other symptoms may include poor thermoregulation and dysplastic finger nails or toenails. Toilet training is often difficult in this population. In spite of these issues, infants with P-MS tend to be easily amused, and adults often have a sweet disposition.