Alysa’s Story

by Anel

The year was 2005 and my husband and I had been married for 18 years. We had 2 healthy boys, age 17 and 14 at the time, when we found out we were having a baby girl. I vividly remember the day Alysa was born. It was filled with mixed emotions- extreme happiness and even anxiety. Her syndrome was a surprise to us.

As a 36 year old, it was standard for me to do all the prenatal testing. We even chose to do an amniocentesis. Everything came back normal. I guess the scariest part was that the doctors could not give us a diagnosis. There was that uneasy feeling of uncertainty about our future and caring for Alysa. All we knew was that our lives, as we knew it had changed.

Alysa’s pediatrician suggested we admit her to the NICU for further observation and testing. During that time in the hospital, we had family meetings with the hospital social workers and neonatologist, who told us that Alysa would probably not hear or speak and would have some mental retardation. We were informed about all the testing they would be conducting to rule out some of the diagnosis. She had CT scans, Ultrasounds, Cardiograms, blood testing, and hearing testing. They also brought in experts from out of the area, such as an ophthalmologist, and genetic consulting. Finally, 2 days before being discharged from the NICU, we had a diagnosis…Treacher Collins Syndrome (TCS). It is very rare, 1 in 50,000 births. The typical physical features include Cleft palate, Absent eyelashes on the lower eyelids, downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears. Alysa was born with a mild case of TCS. I am glad to say that the neonatologist was incorrect about his prognosis. Alysa could hear, she speaks and is not mentally challenged.

I immediately starting researching everything I could find about the syndrome. We wanted to explore all of our options. I also found parent support groups online for Treacher Collins and Microtia Atresia. This is where I learned the most from other parents, who had a child and had gone through what we were going through with Alysa.

Fast forward to 2010… 

We attended a Microtia Atresia conference, which I highly recommend families to attend, if exploring options. We felt it was time to make a decision as she was getting older and starting to realize she was different and would often ask about her ears. We chose Medpor because we felt it was less invasive and could be done at a much younger age. We are very happy with our choice and the outcome of the surgeries. Alysa had stage 1 right ear in July 2011, stage 1 left ear in November 2011, and stage 2 bilateral in October 2012. She also had fat transfer into the temporal region in October 2013. We are hoping to get her BAHA (bone-anchored hearing device) surgery implants in 2015. She will also need a few other surgeries in the near future, including her jaw which will have to wait until she stops growing but for now we wait and take one day at a time.

Alysa is now a happy 9-year-old little girl. She must have this aura about her that attracts people, because she is well liked by everyone she meets and gets along with her teachers and friends from school. She has a funny sense of humor, loves to sing and dance and she really enjoys music. She wears bilateral BAHA’s on a softband and has bone conduction headphones as well. She is very happy with her new big girl ears that she likes to show and talk about, even with strangers that don’t really understand, because her ears look so good they don’t know she was not born with them.

I really feel things happen for a reason. Maybe 9 years ago I did not understand it, but I think God has a plan for Alysa. So many amazing people have come into our lives through her. We are forever grateful to Dr. Lewin and all of the other doctors in her life. Alysa is truly an inspiration. She is a very brave little girl to go through the surgeries with a smile on her face. We are so proud of her and love her so much. She is truly a gift from God.