Thursday, March 17, 2011

One Person can Make a Difference

Last night I had dinner with a group of 'special moms'. I was invited by a mom I met at the Genetic Diseases of Children Conference I went to last week who happens to live about 10 minutes from me. I was very excited to meet her because her work had inspired me right when I was first hit with Ellie's diagnosis. Two days after Ellie was diagnosed with PWS a friend of mine gave me an article about a local mom. At this time I was feeling sorry for myself and could not understand why this happened to my daughter and family. I felt that since I have my masters degree in special education and work with kids with disabilities that I would be exempt from having a child with special needs. Like I should have good karma or something.  This article highlighting Brenda, a special education teacher who lives near me who also has a child with special needs, reminded me that I was given Ellie with PWS because I could be trusted to make a difference and do right by her.  What Brenda did for her son's disorder is truly remarkable. Her work makes me believe that one person really can make a difference.

Her son is diagnosed with a disorder that is so rare that there are only about 300 known cases in the world. After alot of grieving she realized that she needed to do something to move research forward into his disorder. Her love for her son pushed her to extablish an on-line support system for the other families battling the same disorder. She also single handedly created a biobank, the result, even more astonishing. The biobank she created made it possible for researchers to isolate the gene that caused her sons condition. This information could have a major impact on cancer research!

Please read the article below that was published in our local paper on May 10, 2009 (2 days after Ellie was diagnosed with PWS).

Imagine what we could learn from Prader-Willi Syndrome.........

NEIGHBORS; Vestal mom helps families
By: Valerie Zehl
PRESS & SUN-Bulletin: Sunday, May 10, 2009
Children share same rare syndrome
Mother's Day has a special poignancy around the Conger household. When Cliff and Brenda Conger of Vestal started a family 20 years ago, their first pregnancy was easy. Paige entered their life, a perfect baby who would grow into a beautiful daughter. As a special-ed teacher, Brenda had seen enough to concern her about bearing a child with disabilities herself. When she conceived again in her 30s, she requested an amniocentesis. It gave only good results - but soon that second pregnancy sent her into the arms of a high-risk medical team. At the end of the examinations, the only question was just how many imperfections their next child would have.

It turned out Cliffy had problems from head to toe. Geneticists put a name to his condition when  he was 3 years old: Cardio-Facio-Cutaneous Syndrome, a rare litany of medical complexities shared by only a scant handful of people - maybe 300 - in the entire world. As its name suggests, the syndrome affects the heart, face and skin, but in fact those are only the most obvious points. Mental and physical limitations are signature marks of the syndrome. Affected
children may also have heart defects, relatively large heads, downward-slanting eyes, sparse or curly hair and a host of other conditions.

Initially, Brenda and Cliff, who owns Cliff House Ski Shop in Vestal, were stunned. Cliff remembers being "like a zombie," he said later, while Brenda could do nothing but grieve for the normal child that fate stole from her. Life would never be the same. Their days became an endless circuit of specialists, grim diagnoses and painful medical procedures for Cliffy. That was the hardest part, Brenda says: watching her little boy suffer. Lightning also illuminates.

When Brenda began to understand the scarcity of research into rare diseases, she realized that in that one realm, she could make a difference. Building on a support group begun by another mother of a CFC child, she created CFC International (www. At first it was dedicated to giving parents an online gathering place, but soon used those same parents as resources. The 100-plus patients span many ethnicities and countries, and, working together online, the parents compiled extensive medical data about their children to create a first-of-itskind CFC registry. It charts which symptoms affect each individual with CFC, the
location of each person and, most significantly, on which specific bits of DNA the disorder was carried, as well as other information that can be readily dispensed to researchers. In addition, the group created a bio-bank - a feat that's nothing less than astonishing to those who understand its value. "This is a mom who, to get the medical answer she needed to help her son, is doing amazing work. In their short existence (the group) has organized information and
blood samples to find the genes for CFC," says Luba Djurdjinovic, executive director of the Ferre Institute in Binghamton, which provides education and counseling on human genetics.
"If they didn't have this bio-bank, it would take a decade to find all those families and those blood samples, and if it wasn't for this work, researchers wouldn't know what genes are involved," she explains. The ramifications of the research go far beyond CFC. "It's a perfect example of how a very rare disorder, as we learn about it, gives us a glimpse into what affects all of us," she says. All the genes identified for CFC are along a pathway that occurs when cells have to replace themselves. When they replace themselves in an abnormal way, the cells
begin to accumulate and create a tumor - which means research into the genes that cause CFC has implications for cancer research, too. "As this group of parents finds 'treatment' for their children, that will help us find future cancer treatments, too," she says.

Happy Mother's Day to Brenda Conger and to all the mothers who sacrifice so much on behalf of those they love.
Log on to to find out more about Cardio-Facio- Cutaneous Syndrome.

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