Celeste's Story

I was having lunch with friends. Being deaf in my left ear, I always position myself to be able to hear as many people as possible --sitting on my “good” or “bad” side is a joke among family and friends. I always explain my deafness to the person on my left. If they say something and I ignore it, they should poke me on the shoulder.

Dr. Alice Kahn was in the group and that got her attention. If I remember, she positioned herself to sit on my right. She proceeded to ask me questions about my hearing loss.

I had mumps when I was less than six weeks old; nearly died of it, I’m told. Doctors were never sure if my hearing loss—a result of damaged nerves-- was due to my having the mumps or if I was born with it. Some of my earliest memories are, when talking on the phone, I always held it to my right ear, explaining nonchalantly to my worried parents that I couldn’t hear in my left. It was no big deal to me but it was to them. When I walked through doorways, I would often bump against the doorway on the way through. My balance was off and that was how it showed itself. We proceeded to visit doctors who told them what I already knew; I was totally deaf in my left ear. On one doctor visit, I remember my older siblings telling me that if I was truly deaf in that ear the doctor would probably cut it off. Imagine my dismay when the nurse appeared with many implements on the tray. One of them was a scissors. However, he gave me a butterscotch lollipop and left my ear intact.

As I was explaining all this, Dr. Kahn listened raptly and looked at me intently. What a fascinating speaker I must be, I thought. Later I learned that because of my hearing loss and facial anomalies she suspected a Waardenburg connection right off. I had never heard of it. My family on both sides had been plagued with hearing loss. I remember my uncles having conversations that reverberated off the walls, they were so loud. Nobody could hear. That was just how we were, we thought. One cousin had a cleft palate, another had a speech impediment. Every family has its oddities, we thought.

After hearing tests confirmed Dr. Kahn’s suspicions, she asked for a family history and Waardenburgs symptoms were all over the place. None of this hit home until my granddaughter was born with an extra digit on each had. Then I sat up and paid attention. The extra digit was not a problem. The doctors banded it and it fell off leaving a slight scar that can be removed. Dr. Kahn tested her hearing and it was fine. However, two other grandchildren had problems with ear infections and had tubes inserted.

So the Waardenburgs diagnosis has not changed anything in our lives, just gave the problems a name and a new awareness. If other problems crop up we will have a starting place. We know that genetic testing is available.

When Dr. Kahn questioned me about family symptoms, she always asked if anyone in the family had white patches in their hair or premature grayness. No, they didn’t, I always said. Imagine my surprise when, at a cousin’s funeral, his middle-aged son, whom I hadn’t seen in a couple of years, walked in the room and had a circle of white hair on the front of his head. My family is now aware of Waardenburgs syndrome and we know where to go if we need help.

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