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Area resident, zoo event spur awareness for little-known disorder
By Chris Beattie, cbeattie@starlocalnews.com
It is the second most common genetic abnormality. It is estimated to occur in one in 2,000 births.
Yet few people, including doctors, know about Velocardiofacial syndrome (VCFS), or 22q11.2 deletion syndrome.
Dallas-Fort Worth residents are determined to change that, one zoo visit at a time. The second annual "22q at the Zoo -- Worldwide Awareness Day" will span the globe Sunday in an amped-up effort to bring attention to an oft-unheard of and unfunded genetic disorder.
The disorder, also referred to as DiGeorge Syndrome (and by at least three other names), is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion). More than 180 symptoms range from holes in the heart to simply thick hair, and none occur in all cases. According to the VCFS Educational Foundation, noticeable signs include palatal abnormalities, feeding difficulties and severe immunological dysfunction, to name just a few.
Most 22q11.2 deletion cases are sporadic, but in about 10 percent of affected families, the deletion is inherited and an affected person has a 50 percent chance of passing the deletion on to offspring. Yet, because of high testing costs and a lack of knowledge of the disorder in the medical field, it is not tested for in newborn screenings.
McKinney resident Heather Holder, whose 13-year-old daughter Danielle has 22q, got somewhat lucky with an early diagnosis. Danielle was born with low calcium levels, another common symptom, so doctors tested her and diagnosed the disorder in about two months.
But Holder and her daughter spent at least part of every day for almost two years at a hospital or doctor's office. They still struggle with finding doctors who are comfortably familiar with the disorder.
"When you get the diagnosis, it turns your whole world upside down," Holder said. "I don't want anybody to have to go through that alone."
Thus, Holder has pushed for VCFS/22q awareness throughout DFW and beyond. Last year, she kick-started the area's presence in the 22q at the Zoo initiative by spearheading the Fort Worth Zoo's participation.
Only about 60 people showed up for the event, but more than 24 families have already committed to Sunday's outing. Holder, in September named vice president of VCFS/22q Texas, remains determined to make DFW a knowledge and support hot spot for affected families.
"All the people I met there, at least half of them had never heard of VCFS Texas," she said of last year's 22q at the Zoo in Fort Worth. "Since then, it's definitely grown. It grows constantly."
Formed about three years ago, VCFS/22q Texas is a statewide support group that provides information and resources related to the disorder, and connects affected families to others in their area. Board members across the state, including Holder and Trejo, hold monthly conference calls to discuss the organization's direction and upcoming events.
They host annual retreats where families learn from medical professionals and others in their position about the disorder -- new information, treatment options and available resources. But the journey toward commonplace recognition is still just beginning.
"Because 22q11.2 deletion syndrome is so widely unknown, many, many children and adults live with the myriad medical and cognitive challenges caused by the disorder without knowing," Trejo said. "I hope that VCFS Texas will continue to grow and support more families and professionals here and throughout the state so that the precious children and adults living with this disorder receive all of the therapy, medical and educational care and support they need to reach their full potential."
Representatives of 22q International and VCFS International in February petitioned Congress to add VCFS to the list of disorders tested for in newborn screenings. Congress said the groups needed to provide further research and statistics that outlined why such an addition is needed, Holder said.
"We get no federal funding, no funding at all except from the private sector," she said. "I think the newborn screening would be awesome because even if you don't have it, you're still getting information about it."
As for VCFS/22q awareness, an annual day at the zoo could be just what the doctors -- or at least supporters -- ordered. This year's 22q at the Zoo will kick-off Sunday morning in Sydney, Australia, and continue across the world as VCFS/22q-affected families and friends link up at 65 zoos in more than 10 countries on three continents.
The Fort Worth Zoo and Austin Zoo last year brought Texas into the mix, and zoos in Abilene and Houston will join the initiative this weekend. The Fort Worth event will run from noon to 3 p.m. Sunday.
Participants will again wear 22q T-shirts and "Ask me about 22q" buttons to spur curiosity from other zoo-goers and passers-by.
"22q at the Zoo gives all of us a chance to help change the world for our loved ones and others who maybe even unknowingly walk the same path," Trejo said.
VCFS/22q Texas last week launched a Facebook page to further such awareness and spread word of Sunday's event. More than 40 people have already "liked" the page, Holder said.
Families affected by VCFS/22q are popping up every week. They're anxious to know about a disorder that's so common, yet so unfamiliar.
"People who have a kid with it shouldn't think they don't have support," Holder said. "The more people who know, the better."
For more information about VCFS/22q Texas, Inc., visit www.vcfstexas.com.
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