Re: RE:to & Laurie regarding genetic testing

[Guest guest]

My nine year old daughter also has one ear misshappen on the outside (the

medical I have most frequently used to describe this is unilateral atypical

microtia)

Do not rely on genetic tests to tell you whether your daughter has one of the

syndromes. Demand a kidney ultrasound, an EKG, and a cervical Xray immediately.

These are non-invasive tests which will tell you a lot. BOR Syndrome (also

involves external ear deformities and kidney problems) only has a 30 % rate of

detection through the EYA1 gene. Because Patty was born in Canada, her kidney

ultrasound was scheduled before we even left the hospital. When she was 9 days

old we knew she most likely had BOR Syndrome.

So far, there is not much that can be done regarding treating the syndrome, only

the symptoms are treated. Since these two syndromes can be almost conclusively

diagnosed (and mroe accurately) without genetic testing, this may be a quicker

route you wish to consider.

BOR is autosomal dominant -- which means it is extremely rare to have this

syndrome unless you have a relative that also has it (although it is possible

that the relative has such a mild case that they don't even know they have it --

which is what happened in our situation)

Hope that helps. If you do want genetic testing information for BOR syndrome, I

can point you in the right direction, please feel free to contact me off-line.

Sheri