Caroline's Story

I didn’t realize that my family and I had Waardenburg Syndrome until my second daughter was born.  My first daughter, Megan, was born in 2005.  Her eyes changed from bright blue to green, but otherwise does not show any signs of WS.  My second daughter, Gabrielle, was born June 2007.  We were surprised at how much black hair she had!  However, under her dark forelock, we discovered about 10 strands of silvery hair.  At that time, we thought nothing of it.  At 3 days old, Gabrielle had a newborn hearing screening.  Her hearing tested normal in her right ear, but after 2 additional testing dates and several months later, Gabrielle was identified as having a permanent, severe, sensorineural hearing loss in her left ear.   We were very upset.  We then had Megan’s hearing tested, which came back normal.  After moving to Queensland, Australia, we had Gabrielle’s hearing tested again, but the results did not change.  While we were still upset, we were able to appreciate the fact that her right ear had normal hearing. 

At that point, I began trying to find out how and why my daughter, of a normal pregnancy and no familial history, had a hearing loss!  I kept coming across Waardenburg Syndrome, and when it mentioned heterochromia and a white or silver forelock, I was fairly certain that we had WS.  The audiologist then referred us to a geneticist who confirmed WS Type II through our family history; however, genetic testing for WS is currently not available in Australia.

I had so many mixed feelings about the diagnosis of WS.  I was relieved to have found the reason for my daughter’s hearing loss, but on the other hand, I felt guilty for (unknowingly) passing WS on to her.  I also felt guilty that she had a hearing loss when I did not, and that my daughters’ children could possibly be born with WS and hearing loss.  My hope is that my grandchildren do not acquire WS, and that WS disappears from our family one day. 

Currently, WS has manifested itself in my family through my mother, father, brother, sister, and I all having heterochromia.  Now, my daughter Gabrielle also has heterochromia in conjunction with the unilateral (one side) hearing loss.

We have been told that Gabrielle should develop normal speech and language because she has normal hearing in her right ear.  We will have to have her hearing tested at about 8 months of age, and every 6 months after that to ensure no deteriorating hearing in her right ear.  We will have to make accommodations for her unilateral hearing loss such as teaching her effective road safety and considering preferential classroom seating.  She may have difficulty with directionality of sound and hearing conversation amid background noise.  We were told that she should not need a cochlear implant due to the normal functioning right ear, but that she may benefit from an FM system in school.

Caroline
-Australia    

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