COSTELLO SYNDROME
FAMILY NETWORK
Letter From The President
Dear Families,
By now, you've probably learned that there's a gene test for a mutation for Costello syndrome! The
mutation was first published by Japanese researchers on September 19, 2005. It turns out to be the
gene that regulates the function of H-ras in our children's cells, a link to the way our cells bring
information from the outside of the cell to the inside of the cell and the nucleus. Luckily, this is a
well-known gene to cancer researchers. Our children hitched a ride with a very big bus!
Researchers are not yet sure if this is the only gene mutation associated with Costello syndrome.
We are confident that a positive test for the mutation confirms that your child has Costello
syndrome, but a negative test result doesn't rule out CS as a possibility.
For those who don't test positive for CS H-ras mutation, the mutations for a CFC syndrome gene
as well as a second Noonan syndrome gene (although rarely affected in most cases) have been
identified. Interestingly, the Japanese were originally looking for a second Noonan syndrome gene
when they fell upon the CS mutation! The samples of CS genes were supposed to be a "control"
for the Noonan gene they were looking for. Noonan syndrome had one already-known gene, but
that accounted for only half (50%) of the children who were clinically diagnosed with Noonan
syndrome. Now that we have a CS (HRAS), a CFC ( BRAF, MEK1 and MEK2) and a rare second
Noonan gene mutation (KRAS), we can untangle the confusion and identify MOST of our children
with one of these mutations.
For all our children clinically diagnosed with Costello syndrome (including "probable" - a prefix
Quin had until I came back from our first conference in Birmingham, Alabama!), I encourage you
to get your child tested for the H-ras mutation. It's very important to know if your child has the CS
mutation, the CFC or the newly found Noonan mutation, or none of them. Knowing for certain
that your child has a specific mutation will lead to appropriate treatment that is not a matter of "if"
but "when" - though exactly what can be treated is not yet clear.
If your doctor needs help to find a lab to test your child, www.genetests.org can help. It's organized by the NIH ((US) National Institutes of Health). These folks can definitely guide US families and may be able to help international families. The GeneTests.org site divides the labs into two categories:
1) Research
2) Clinical
There are pro's and con's for each.
1) Research Lab:
A researcher will provide the test for free, but we need to understand that their primary focus is to
meet their research goals, based on the contractual obligation they have to the organization that
funded their research. The focus will be for the greater good of all our children.
Research labs are not obligated to explain the implications of the results. That depends on what
their "IRB-approved" research project is <http://www.hhs.gov/ohrp/irb/irb_guidebook.htm>, and
what their agreement with you is. Fortunately for us, we have been working with researchers who
have proven repeatedly to be exceptionally considerate of us parents over a number of years!
2) Clinical Lab:
A clinic does focus on your child. It can do the test and provide you with genetic counseling when
the results come in. But your insurance plan may not pay for the cost. Fortunately, I believe we
have strong resources to help a parent appeal if the insurance company denies the test - though we
can't guarantee that it will lead to success.
While a positive test for CS (or CFC or the KRAS Noonan gene) finally puts to rest that last vestige of doubt for
most of us, I ask that we all remember what it was like to go through this the first time as well as your wait period
for the gene mutation test to be completed -- for the families who don't yet have a definitive gene-test answer.
I'd like to reassure our families that CSFN will never turn away a family who benefits from our support. We'll
be here for you until you find a better fit for your child's needs.
And finally, I hope you can come to our next conference, July 18-21, 2007 in Portland, Oregon! With all this
new information, it's sure to be rich with information-sharing. Also, if you haven't had the pleasure of seeing
your child hanging out with others like your child, it's priceless. How often does that happen?
Colin Stone, our international support founder, director of the International Costello Syndrome Support Group
(ICSSG) and I can help you with fundraising and resources to come to our conference.
With excitement and wishing you patience and serenity,
Lisa Schoyer
Mom of Quin
President, CSFN
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