For the Jones' family, getting therapy close to home made all the difference.
When Megan Jones' son Wade was four months old, he was diagnosed with
cri-du-chat syndrome. It was devastating. Wade would likely never walk
or talk. Any development would be slow.
Megan knew Wade’s best chances were with an early childhood physical
therapist. Unfortunately, those were hard to come by in their hometown
of Monticello, so at first they hired a therapist to travel from Champaign
to their home. Then, when Wade was a little over a year old, Megan discovered
that an old high school friend, Betsy Williams, was joining Kirby Medical
Center and that Betsy was certified as an early childhood physical therapist.
Betsy made therapy fun for Wade, and soon he could sit up and crawl. There
were always lots of balls to play with, which Wade loved.
Wade is now a happy three-and-a-half-year-old. He’s a graduate of
Betsy’s therapy sessions and attends preschool where he continues
his therapy and development. Megan and her family are thrilled: “If
you would have told me, when we got the diagnosis, that Wade would be
walking at age three, I wouldn’t have believed it,” she says.
Kirby’s therapy services include physical and occupational therapy
for children and adults. Call (217) 762-1830 for more information.
What is Cri du Chat Syndrome?
In 1963, a French geneticist, Jerome Lejeune, recognized several patients
that had similar characteristics, one of which was a high-pitched cat
like mewing cry. He named the syndrome Cri du Chat because of that distinct
characteristic. Cri du Chat is French for “cry of the cat.”
The word “syndrome” means a group of symptoms that together
are characteristic of a specific disorder. Cri du Chat Syndrome occurs
because there is the loss of genetic material (deletion) of a portion
of the short arm of one of the fifth chromosomes.
Cri du Chat Syndrome is a rare genetic condition. It occurs in approximately
1:35,000 live births. Cri du Chat Syndrome is considered the most frequent
deletion syndrome in humans. Cri du Chat Syndrome is also called 5p- Syndrome,
5p Minus Syndrome or 5p Deletion Syndrome. The “5” meaning
the fifth chromosome; the “p” meaning the p arm (short arm)
of the chromosome (above the centromere); and the “-“or “minus”
referring to the deletion that occurs. These events are not predictable
and the syndrome cannot be “blamed” on anyone. Individuals
with Cri du Chat Syndrome typically have enough matter missing to be visible
on a karyotype (mapping of the chromosomes that is done in a laboratory),
but in order to find the specific breakpoint, FISH analysis is needed.
The deletion is terminal and can be a single breakpoint, or two breakpoints
(interstitial) of the short “p” arm. In some cases the deletion
derives from other chromosomal rearrangements such as unbalanced translocation,
mosaicism, inversion or ring chromosome. In most cases the deletion results
from a “de novo” mutation. “De novo” means that
it just happens for no known reason, and the parents have normal chromosomes.
In 10-15% of cases one of the parents is a carrier of a chromosomal abnormality,
known as a translocation. (This translocation can be present in several
generations of the same family) The parent, not showing any signs of having
the syndrome itself, unknowingly transfers the abnormality to his/her
offspring. Because of this, it is the recommendation of the 5p- Society
for parents to have their chromosomes tested after the confirmed diagnosis
of their child.