Our first daughter, Reagan, was born on July 1, 2009. The day she was born I fell in to a love like I had never felt before. I became a mom that day, and my life truly began. My husband Jake, our daughter Reagan, and myself spent the next few years having the time of our lives.
Reagan was our everything, and being a mom and wife was clearly what I was put on this earth for. The three of us felt like something was missing though. Reagan mentioned quite often that she wanted to be a big sister, and Jake and I both wanted to have another child. So, we tried for a couple years but nothing happened, then, after an unfortunate miscarriage and a couple more years had passed, I became pregnant. We had been wanting this for so long, it almost didn’t seem real……but there she was, on the ultrasound screen with her arms waving and feet kicking, she was real, and we were finally going to have another baby! Reagan’s dream of being a big sister was coming true!!
Rebecca was born on January 20th, 2016, and I fell in love all over again. Reagan sat holding her and staring at her, she was so in love with Rebecca from the moment she saw her. I was in disbelief that I actually had this opportunity again, I felt like the luckiest woman in the world. On the day we were discharged from the hospital a nurse came in and told us that they did not have the ear muffs to perform the Newborn Hearing Screening, and that we would have to come back in a week or so when they got them in. About a week after we brought Rebecca home we went back to the hospital for the Newborn Screening test. The nurse put electrodes on Rebecca’s forehead and behind her neck, and she put muffs on her ears. We thought nothing of it, we were just in awe looking at Rebecca thinking how beautiful she was as she lay there. After ten minutes or so the nurse told us that Rebecca did not pass the test, but that it was no big deal, she said that Rebecca probably had fluid in her ears which is very common, and to bring her back in a week so that they could repeat the test. A week later, Jake was back to work, I took Rebecca back to the hospital to repeat the test, and she failed it again. The nurse kept telling me that she most likely still had fluid in her ears, and that it was probably nothing to worry about, but that we needed to take her to a specialist. I sat there crying. I knew something was wrong. After that second failed test we began performing tests of our own……banging pans together, screaming, clapping, etc., all with no response from Rebecca. We had an idea that her hearing was bad, but we thought it must be fluid and she might have to have tubes in her ears, no big deal. We went to the Durfee Center in Fall River for a few tests.
The first test they performed was to see if Rebecca had fluid in her ears……….and she did not. My heart sank. I felt sick and terrified. They then performed a ABR test, and we were told that Rebecca had profound hearing loss in both ears. “Rebecca is deaf”, they told us. We both cried and cried. We were upset beyond belief. How could our baby be deaf? There is no one in either of our families with hearing problems, how could this be? As time went on we became involved in the deaf community, and we immersed ourselves in ASL, and we slowly realized, it’s not that bad! In fact, it was quite an interesting journey we were on. We met so many amazing families, and learned so much. Rebecca introduced us to a world we never would have known if it hadn’t been for her deafness, and it opened our eyes, and we were grateful for that. Rebecca was on her way to getting cochlear implants and I was busy setting up appointment after appointment after appointment. All was going good. Then, when Rebecca reached about three months old, something didn’t feel right. I noticed that I was still carrying Rebecca around like an infant, like I had just brought her home from the hospital, fully supporting her head and neck. I took her to her pediatrician, and they told me it was fine. Then, Rebecca turned four months old, and I was still fully supporting her head. I knew something was wrong. Rebecca always wanted to be on the floor, with her head on the ground. I inquired about this on a Facebook page for the deaf to see if anyone else had experienced this. I was expecting people to tell me that it was because she was deaf and she just wanted to see everything around her, but that is not what they said. I began getting messages about Charge Syndrome and Usher Syndrome, and this problem and that problem. I was overwhelmed. I started researching these syndromes, and that’s when Usher Syndrome hit me in the face. As I read about it I thought, “that’s my daughter”. It explained that with Usher Syndrome Type 1 you are born profoundly deaf, and start to lose vision around ten years of age, and it gets progressively worse until you are eventually blind. It also explained how people with Usher Syndrome usually have vestibular or balance issues, and that head lag was one of the first signs. I was devastated, I cried and cried and cried. I knew that this was what Rebecca had. I made an appointment to see Rebecca’s doctor at Children’s Hopsital. I brought Rebecca in and I told them that she is not holding her head up, and that I read the first sign of Usher Syndrome is head lag. I had also read that Usher Syndrome is more prevalent when both parents are French Acadian, which we are. I showed the doctors how when I held Rebecca upright, she pushed the back of her head into my hand until I put her back to the floor. The doctor told me that she would do some genetic testing so that we could find out whether or not she did in-fact have Usher Syndrome. But, it wasn’t that easy. Our insurance company denied the request for the tests, but luckily, after a month of phone calls from both us and Rebecca’s doctors, our insurance company reconsidered and approved the testing. It would take two months for us to get the results. During the two months, Rebecca received physical therapy weekly, along with ASL, a teacher of the deaf, and so on. Rebecca seemed to be doing so well!! She started holding her head up, and even sitting up on her own! I thought, “I was wrong! Rebecca doesn’t have Usher Syndrome!”. We got a phone call the end of August that the genetic testing results were in, but that they didn’t have a appointment available to see the doctor until Sept 12th, and they wanted to give us the results in person, which was fine. So we set the date for Sept 12th. Rebecca had a appointment already set up for Sept 7th for vestibular testing (balance). I took her to the testing on Sept 7th and I thought the appointment went great. The doctor strapped Rebecca and I into a chair that spun around and around, Rebecca did not seem dizzy. Then they put ice water in her ears, and again, Rebecca did not seem dizzy. I thought this was a good thing. I got home and told Jake how great the appointment went, and that it was going to be good news on the 12th and we were going to celebrate after her appointment. On Friday Sept 9th I received an email saying that a note had been added to Rebecca’s online portal at Children’s Hospital, so I clicked on it. There it was……”Rebecca has profound peripheral vestibular loss bilateral, and it is highly likely that she has Usher Syndrome”. I think I died for a moment. I couldn’t breathe. I was crying and screaming. I called Jake at work and he came right home. We called her doctor and she confirmed over the phone that yes, Rebecca has Usher Syndrome Type 1, the worst type. We were, and still are, devastated. Almost a year has already passed, and nine years is not much time. We are trying our hardest to come to grips with this, and in time, we will. We are hopeful that before Rebecca begins losing her eyesight that there will be a cure found. We are fully committed to doing whatever it takes to raise awareness, and funds to find a cure. We have plans to take Rebecca to as many beautiful places as we can so that she has them in her memory. And we are going to love this beautiful little girl and her big sister like there is no tomorrow. So this begins our story……….