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A Parent's Point of View
Support could solve genetic mystery

by John P. Cleary

May 22, 2010

The geneticist in Rochester gave us a diagnosis of our youngest daughter’s problems last fall and set us adrift. A chance meeting and a little poking around, though, has us feeling, for the first time in months, like we are not alone.

Lizzie, who will be three in a few months, has a genetic disorder, a duplication of a tiny amount of genetic material on her 15th chromosome. This duplication is rare – there are only a handful of known cases in New York, we’re told – and her specific duplication, the subsections of the chromosome affected, is rarer yet.

From the Internet and from Lizzie’s regular pediatrician, who has been spectacularly helpful, we gathered some general information on similar conditions. We learned Lizzie will have many obstacles to overcome in the years ahead.

But not much more. The information available was scant and didn’t address Lizzie’s specific duplication, and those specifics mean a lot, when you’re dealing with the building blocks of life. The genetic counselor in Rochester admitted she had little experience with this syndrome, made a vague offer to follow up with Lizzie in a year, and hurried off the phone.

So, I was a little embarrassed when I was approached by Lynda Kimball at The Arc of Schuyler’s annual meeting a few weeks ago and she asked questions about Lizzie’s diagnosis I couldn’t answer.

Kimball, a regional coordinator for Parent to Parent, which makes connections between families that include someone with a disability, has personal and professional knowledge about 15q duplications. Right from that brief conversation, I felt as if my family had finally found a kindred spirit.

Kimball is connected to a group of parents and clinicians who share information and support for people with 15q duplication syndromes. Within days, the group sent us valuable information.

Kimball also put us in contact with a geneticist in Delaware who focuses on these issues. The Delaware physician is interested in examining Lizzie and can share more specific information. She is also encouraging us to consider joining a study by a researcher in Tennessee who is collecting data about children like Lizzie.

The out-of-focus picture we had of Lizzie’s future is clarifying. As we connect with parents and professionals, we become better equipped to make decisions about Lizzie’s education, medical care and therapies. We are learning about the successes and challenges of other children like her, and we are increasingly optimistic about her future.

At that Arc of Schuyler meeting, I spoke about the need to become an advocate for our friends, brothers and sisters and children with disabilities. Little did I know just the advocate my family needed was right there in the audience.

With the support of other families who have been through what we’re facing, and the opportunity to work with the field’s top researchers, we are a whole lot less frightened of what’s ahead.

For more information about Parent to Parent, see www.parenttoparentnys.org

(John Cleary is the parent of children with developmental disabilities and a writer/journalist who resides in the Southern Tier of New York.)