First-Ever Conference and Gathering of Families with PACS1 Children
CONTACT: Kerri Ames firebailey@gmail.com
WHAT: First-Ever Formal Conference and Gathering of Families with Children who have Schuurs-Hoejemakers Syndrome or PACS1 Related Syndrome (PACS1)—an ultra rare genetic condition that causes developmental delays and intellectual disabilities. PACS1 children have dysmorphic features, which include distinct shape of the eyes, arched brows, a button nose, and a wide smile. The condition was first identified in 2010 in the Netherlands and reported in medical literature in 2012. Since that time, just 50 cases have been diagnosed, in 9 countries: USA, UK, Australia, Canada, Belgium, Netherlands, China, Germany, and Spain. The potential of children with PACS1 is unknown.
WHEN AND WHERE: April 28 – May 1, 2017, at the Hampton Inn-Central 718 By-Pass Road in Williamsburg, Virginia.
WHY: It is extremely difficult for families with PACS1 children to receive a diagnosis. This event—which is drawing families from the U.S.A., Canada and Australia—marks the launch of a formal network, so that when a child is diagnosed, the family is offered immediate support. Participants hope that this event will help them reach other families with as-yet-undiagnosed PACS1 kids, and to raise awareness in the scientific and medical community about PACS1 testing.
AGENDA: In Development. At least one planned session will be devoted to the challenges of raising a PACS1 child, and how best to support families. Participants welcome the opportunity to talk with the media. On Sunday, April 30, participants and guests will be meeting with Dr. Wendy Chung, a board certified geneticist at Columbia University.
HISTORY, AND ONE FAMILY’S STORY: For David and Kerri Ames of Cape Cod, the path towards this event began in 2008, when their daughter, Bridget, was born. During Bridget’s first year of life, David and Kerri made the 60 mile drive to Children’s Hospital in Boston more than 30 times, for issues including cardiac, lung, gastric reflux and neurological issues. She also had dysmorphic features. Combined, Bridget’s “symptoms” did not add up to a diagnosis. Her family was told she had an “unknown” syndrome.
Bridget received excellent care at Children’s; over the next several years, she acquired 14 pediatric specialists, a feeding specialist, physical therapists, speech therapists, augmented speech therapist, and several occupational therapists, and received a host of early intervention therapies. What she didn’t get was a specific diagnosis for her evolving collection of symptoms. No one could help David, Kerri, and Bridget’s big sister Abby understand what the future might hold for Bridget, or how best they could help her develop.
So they just called what Bridget was experiencing, “Bridgetitis” and did the best they could to treat Bridget’s symptoms, help her through a host of surgeries, encourage her progress, and live their lives. But they also continued to pursue a diagnosis, and finally, in June of 2014, when Bridget was five, she underwent EXOME genetic testing at the VMP Genetics Clinic in Atlanta, Georgia, and in October 2014 they received the PACS1 diagnosis.
Kerri had started blogging in 2012, as a way to keep her perspective and chronicle Bridget’s progress, and after they learned about PACS1, she wrote: “We were told that Bridget would never do more than sit in a corner. She has come so far, much farther than that doctor I still want to punch in the nose ever expected.” Later on, after finding other PACS1 families through Facebook, she wrote, “One mother searched for more than 13 years for an answer to what made her son unique. Why does it take so long? Why do so many families struggle and wonder and fear and remain undiagnosed? I remember being so frustrated and scared and we were diagnosed with PACS1 when Bridget was 5 years old. Imagine, for a moment, your child being a teen or in their 20’s before you were told why they fought so hard . . . I am so grateful for the PACS1 Family. Because being alone sucks. Being a part of a family does not.”
(Un)Diagnosed and still okay 
Fantastic Kerri. Is there a way that a non PACS1 family can help? Financial donations to assist with costs maybe?
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