Living with Cri du chat syndrome

By: qwerty53

Jul 01 2009

Category: cri du chat syndrome, Uncategorized

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Aperture:f/5.6
Focal Length:55mm
ISO:800
Shutter:1/59 sec
Camera:NIKON D70

Brenda Dover and daughter, Mimi Birk, recently returned from Dallas where they attended their second conference dedicated to Cri du chat (literally: cry of the cat) syndrome, also known as chromosome 5p deletion syndrome.

Taylor Morris, Dover’s ten-year old granddaughter, was diagnosed with the rare genetic disorder shortly after birth. One early characteristic is the unique cry¬—much like a kitten mewing—first described by Frenchman Jerome Lejeune in 1963. The larynx muscles and nervous system are particularly weak in children with this syndrome and they are susceptible to pneumonia. For this reason, Taylor drinks only thickened milk and water, no juices.

“Ten years ago there was no glimmer of hope for children with this diagnosis,” said Taylor’s mother, Mimi Birk.

Birk credits Brookwood Medical Center’s NED unit for running preliminary DNA tests and providing a diagnosis within 10 hours.

“The news was at first devastating. It took me some time to grieve the loss of my ideal picket fence family, but it gave us the opportunity to enroll Taylor for early intervention, which is the single-most important aspect for helping these children.” United Way underwrites portions of these early intervention programs. At age three, Taylor began attending school.

Birk says Taylor’s special education teachers at Montevallo Elementary have all been supportive beyond measure and her immediate family and Westwood Baptist church family helped her through the early months. ARC has been a reliable and welcome resource for the family. Only ten other children in Alabama are known to have this diagnosis.

Though Taylor reached some of her milestones late, today she can count to 100, knows her ABCs and can read Dick and Jane type books. She has a special needs stroller that will accommodate her up to 138 pounds and now is able to ride a special bicycle provided by AMBUCS.

Taylor has learned to show affection carefully for her three-year old sister, Rebekah, by kissing her on the head.

“When I see that one side of Rebekah’s head is wet and slobbery, I know Taylor has been loving on her sister,” says Birk.

Taylor enjoys movies such as Sesame Street and interacting with characters such as Miss Patty Cake. She uses hand clapping as her personal greeting combined with a little squeal.

Taylor loves the water and loves to run. She placed second in the Special Olympics 15m assisted race and first in the softball throw. She also enjoys bowling.

Brenda Dover has seen the financial hardship imposed on some families with cri du chat syndrome children, and is planning local fundraisers for 2010. Early ideas include a Fun Run (a motorbike ride perhaps involving the assistance of Bo Bice), a golf tournament, and a benefit concert with the support of Kevin Derryberry’s music ministry.

Dover welcomes hearing from readers who would like to sponsor or volunteer. Contact her at 485 Hwy 26, Alabaster, AL or 663-7183.

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