Update: Zane tested positive for Costello Syndrome December 2012 … he has a G12A mutation
Genetics has run a few tests on Zane. He tested negative for Beckwith Weiderman & DiGeorge Syndrome, but is still pending test results for Costello Syndrome. (Update: He tested positive for Costello Syndrome in December 2012. He has an HRAS G12A Mutation)
What is Costello Syndrome?
Here is a good description I pulled off the Ryan Ellis Foundation website:
“Costello Syndrome is an exceedingly rare genetic disorder first reported in 1977 by Dr. Jack Costello.There are only an estimated 300 people in the world that have been diagnosed with Costello Syndrome, which means the chances of having Costello Syndrome are 1:24 million, and less than 10 babies per year worldwide are born with the disorder. Researchers have recently identified Costello Syndrome as being associated with mutations of the HRAS gene, which can signal normal cells to become cancerous. Children diagnosed with Costello Syndrome have an increased risk of developing cancerous and noncancerous tumors.
This disorder affects many systems of the body and is characterized by delayed development and intellectual disability. In most cases, unusually flexible joints cause mobility and stability issues requiring braces or surgery. Heart abnormalities and structural defects are common, as well as vision problems and difficulty feeding. A reduced level of growth hormones causes children with Costello Syndrome to grow more slowly and results in a relatively short stature.”
All of Zane’s doctors seem pretty confident that he has Costello Syndrome and are treating him as if he has it.
What does this mean for Zane?
Well Zane will have about a 17% increased risk for three types of cancers…. neuroblastoma, rhabdomyosarcoma and bladder cancer. because he did have neuroblastoma I believe he is at an increased risk for recurrance. Increased risk for heart problems like enlarged heart and cardiomyopathy. Increased risk for Hydrocephalus and Chiari Malformation (please google any of these you’d like to know more about)
Zane is expected to have short stature and slow growth along with slow development all around including speech, walking, eating, comprehension. However even though he is delayed, he will eventually reach all of his milestones just much later than the average person.
Why do we think Zane has Costello?
Zane matches many characteristics that Costellos have.
- larger than average at birth
- loose folds of skin
- unusually flexible joints (his fingers i noticed bend all the way backwards)
- difficult feeding
- slow growth rate (we noticed his limbs are shorter than average. He fits in the 2 percentile on a growth chart for height
- weak muscle tone
- irritability, trouble sleeping (he’s on anxiety medication to sleep)
- excessive sweating
This is the photo I have where I think he looks most like a Costello with their distinctive facial features stature.
There are a few really great websites and organizations to check out:
Costello Kids which is a UK Charity that provides a wealth of information for parents. They have been extremely helpful to us thus far.
Costello Syndrome Family Network is currently providing information for the upcoming Costello/Rasopathies conference held in Orlando, FL this coming summer.
Team Rasopathies (they sell silicone wristbands here)
we also are a part of a couple facebook groups where we can connect with families who have rasopathy syndromes and costello.