Chasing bubbles with Alyssa

By the time Alyssa was one, the world of MRIs, doctor and therapy appointments was a familiar one to us. Even as a newborn, Alyssa’s eyes seemed to move involuntarily, so we pushed for an eye specialist to see her. We were stunned to learn then that the specialist believed despite some perception of light that Alyssa was functionally blind and never expected to see. Those eye movements were called “nystagmus” which made any focusing impossible. When following up with a neurologist at seven months, we learned something different. She had Cortical Visual Impairment (CVI), not blindness. Though not blind, her brain doesn’t process what she sees well and needed therapy to make the most of what she could perceive. Between learning about CVI, her brain malformations and their suspected effect on development, we had a steep learning curve.

We got her into therapy quickly and started to see some early responses. Still, she didn’t respond quite as expected, and some of what the therapists saw they wrote off to her vision. When she was about a year old, a geneticist noticed that she wasn’t responding typically to sounds and recommending having her hearing checked. Hearing? I was pretty thrown off guard with this revelation. Did she have a newborn hearing screening? No one ever mentioned her hearing before. I had seen her responding to sounds like doors closing and the microwave in another room. We didn’t realize until later that she should have alerted to us when talking to her or to each other. We knew she was behind developmentally, but everyone thought it was vision or developmental delay, and no one gave her quality of hearing much thought.

Like most parents, I knew very little about hearing loss. Her first test, while awake but quiet, was the Otoacoustic Emissions (OAE). The results indicated a moderate hearing loss, but the audiologist said this might be caused by fluid in her ears. She was sedated, tubes were placed, and an Auditory Brainstem Response (ABR) test administered while she was still asleep. Tubes did help; her hearing changed to a mild to moderate range. While Alyssa was in recovery, the audiologist explained what the tests showed and let us know that she would in fact need hearing aids.
By then, we were getting used to learning new diagnoses. After blindness and risks of cognitive delay, hearing didn’t seem to be that big of a hurdle. We threw ourselves into getting her fitted for her hearing aids and into therapy. It was beyond helpful to have the hearing coordinator, a non-doctor experienced in talking to new parents about their baby’s hearing loss, explain the next steps and help us pull a plan together with her huge, highlighted notebook illuminating the process and choices ahead.

In just those first blurry thirteen months, we had a lot of information to take in and no time in which to adjust to it. We learned that a child with mild hearing loss may have difficulty hearing soft speech or conversational speech in background noise, and that moderate loss would cause difficulty hearing normal conversational speech. Alyssa’s mild to moderate loss caused her to hear some sounds but not respond or discern others. If a child cannot hear all the speech sounds well, she will learn to talk the same way sounds are heard, and also have difficulty understanding spoken language. The hearing coordinator explained to us that Alyssa may not hear the sounds “p, sh and c,” for example, but hear a phrase like “piece of cake” as “iece of ake.” Without the use of hearing aids, she would be working so hard to make sense of what she heard. She might find classrooms and conversation confusing and stressful – learning would be more work than fun. She might disconnect from a world that didn’t make much sense.

Alyssa started therapy at home with a Magnolia Speech School therapist shortly after getting hearing aids, an early intervention program for babies birth to three that is free of charge. She also attends a special needs preschool (which has a total communication approach) at T.K. Martin Center for Technology and Disability on the Mississippi State University campus, and has PT, OT, feeding therapy and speech through Kid Therapy Spot. We are glad to know that she can stay at T. K. Martin until she is five. She is now 27 months old has made great progress over the past year.

We have learned many games to do at home to help improve her listening and communication skills. If she appears to hear or respond to a sound, we praise her and say, “Yay, you heard that!” We made an activity box with her favorite toys (animals, vehicles and people at this point) to help her see that specific sounds are associated with each one. We practice the six Ling Sounds with her too, knowing that if she respond to them and eventually learns to repeat them, we know aids are working across all frequencies.) Daily routines like meals, bathing, getting dressed and playing are also ideal opportunities to practice listening skills. We explain everything to her. Singing is another great way to engage her. Her favorites are popping bubbles, singing songs, story time and peek-a-boo. We rewarded any imitation of sound that she gave even if it wasn’t quite right. If she showed any interest in communicating, we’d jump on it to keep it going, even if we were in the middle of an important meeting.

We see such changes in her. From the moment Alyssa started wearing hearing aids, she began reacting to sounds she had never heard before. Now she looks for the person talking and explores the world around her much more. She said her second word ever within a few weeks of wearing them: “Bubba” for her older brother. (We highly recommend big brothers like Triston!) She started wearing glasses shortly after starting hearing aids to help with near-sightedness. Both glasses and hearing aids have opened up her world. Before, she seemed more closed off and to herself; disconnected. We are enjoying getting to know a more mobile, talkative, curious Alyssa as her world opens up.

Alyssa’s journey is just beginning. We know she will face down challenges, but we believe in her and have faith in her future. We had to embrace patience with her and ourselves. Some things we learned quickly, but learning how to best parent Alyssa comes more through educated trial and error. (We learned from experience that Ear Gear clips were a necessity to keep aids safe, for one thing!) There is nothing simple or easy about adjusting to the news that your baby has a hearing loss, visual impairment or any other medical condition. Some days we definitely feel in over our heads, but our new way of life feels more familiar the more bubbles we chase with her.

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Aly’s Journey

This blog has been something I’ve wanted to start for a very long time. I have finally reached a point in Aly’s medical journey where I feel comfortable in her diagnosis. For a long time we didn’t know what to expect or what the doctors would find from their numerous tests. But we have been fortunate to defy the odds and come through with hope that Aly will continue to make progress. Aly’s diagnosis includes Cortical Visual Impairment (CVI) and Microcephaly (small head). She also has mild hearing loss and recently got hearing aids. Her other medical conditions include developmental delays, failure to thrive, congenital muscle disorder, congenital anomaly of sclera and nystagmus. What all of this boils down to is that Aly was born with a brain that was not completely formed. She is missing significant white matter and portions of her other lobes such as temporal, occipital and frontal. Her corpus callosum (the part of the brain that connects the right and left hemisphere) is also thinned. Her brain malformations are the cause of her CVI, Microcephaly, developmental delays and possibly her hearing loss. It is unknown what caused this malformation. She was simply born this way.
I knew very early on that Aly would be different. I couldn’t quite put my finger on it, but there was something about her behavior that wasn’t “normal.” She didn’t interact like other newborns. At two months old I started to notice her eyes moved from side to side uncontrollably. She couldn’t focus or track objects because her eyes were always in motion. My mother was the person who first told me about nystagmus. I knew what I had to do as a parent was get answers immediately. She was referred to a local eye doctor who then referred her to a pediatric ophthalmologist in Jackson. Dr. Mungan confirmed that she had nystagmus and told us it was because of vision loss. Her eyes were completely healthy, therefore the doctor said her vision loss was neurological and ordered an MRI. We were told by Dr. Mungan that Aly was totally blind with no light perception on October 16, 2012. My world was turned upside down that day. I let the shock sink in, but I refused to let it break me down. I had to be strong for my daughter. I had to be her voice since she couldn’t speak for herself at the time. I had to move forward and get answers.
The next step was getting her MRI and seeing a neurologist. Dr. Mungan also referred us to a geneticist. On November 13, 2012, Aly was seen by her neurologist, Dr. Lee. He told us her MRI was abnormal and that she had Cortical Blindness and Microcephaly. He also said she has dysmorphic facial features (midline and mouth). He briefly described Cortical Blindness. He referred to her brain as a computer and her eyes as a camera. He said the camera was working fine and collecting the images and transmitting them to the computer (brain), but the there was a problem in the way the computer processed the images. The analogy made sense, but there were still so many unanswered questions. Maybe it was genetic and we would finally get answers from genetic testing.
Aly had blood drawn for genetic and chromosomal testing in February. It wasn’t until April 16 that was finally got the results. Everything came back great. She had no known genetic disorders or syndromes. I was completely relieved to say the least. I had been told repeatedly for the past several months by her pediatrician and specialists that she had a genetic disorder. They couldn’t put their finger on a certain one, but they seemed so certain. I was never convinced it was genetic. I knew there was nothing else going on and it was strictly neurological. I still didn’t have the answers I was looking for, but I finally came to terms with the fact I may never know the cause of her conditions, and that was okay. She was my Aly. No condition will ever define her. She has continued to prove her doctors wrong. They said she would never see, but she can, and that is such a blessing.
For a long time it appeared Aly was blind. Her nystagmus seemed to get better, but she still wasn’t focusing or tracking. She would not smile or laugh or look at me. She looked past me, as if I wasn’t there. That was the hardest part, that and not seeing her show emotion. I had prepared myself at the time that my daughter would be blind. I contacted First Steps Early Intervention through the State Department of Heath. Her First Steps coordinator, Constance, scheduled an evaluation to determine which services she would need. That evaluation was done in October 2012. At the time she was not doing much. She was five months old, but ranked in at the development of a two month old. From that we determined she needed physical therapy, speech therapy and occupational therapy. She started out with only physical therapy and the other two were added a month later.
At the time she started in physical therapy in December 2012 at the age of seven months old, she wasn’t rolling, sitting or bearing weight. She had a little head control, but not very good. Her vision started improving around five months old. It seemed as though she would see certain things and track, but it was never consistent. She finally started smiling and laughing at five months old, as well. As her vision improved so did her nystagmus and head control. She finally start holding up her head now that she could see objects. It’s very hard to explain, but it was as if overnight her vision kicked in. I met with a teacher for the visually impaired (TVI) in December. She knew a lot about CVI and was the first person to tell me about her diagnosis. Cortical Blindness is more widely known as Cortical Visual Impairment because the children are rarely totally blind. She opened me up to a whole new world of endless possibilities. She was the first person to tell me there was hope, that my daughter could learn to see. That was all I needed to hear to get motivated in informing myself on CVI as much as possible. I spent weeks searching the web for any and all information about CVI.
Everything I learned about CVI was translated into her different therapies. Children with CVI have very specific characteristics and learning styles. Once I knew how my daughter could see, I understood what I needed to do to improve her vision. And since then she has made drastic improvements. Her therapists have been wonderful with learning about CVI and things they can do in therapy to help her. They got her a light box to be used in her therapy. Not only did her vision begin to improve, but also her motor skills and physical skills. She started rolling over at eight months old and by that time she had great head control. By the time she turned one on May 22, 2013, she was rolling everywhere, sitting up with her hands out for 30 seconds and saying a few words. Her first word was “bubba” at around ten months old. She mostly said “b” sounds. Her words are still limited to “bye bye” and “ba ba.” She also makes vowel sounds and her laughing has escalated.
Over the months Aly’s hearing started to become a reason for concern. She had a hearing test ordered in March. At the time, she had mild to severe hearing loss, but the doctors believed it could be due in part to fluid. The ENT said she would need tubes and that could potentially improve her hearing. She had tubes put in on May 16 and had another brainstem hearing test. The audiologist, Dr. Cooper, said the tubes improved her hearing, but she still had mild hearing loss and would need hearing aids. She was fitting for the molds that day and got her hearing aids a month later. Only recently have I come to terms and understood what her hearing loss means to her progress. The audiologist explained that with mild hearing loss there are certain sounds that she cannot hear. So without her hearing aids she would learn to speak the way she hears, putting her at a disadvantage. It hasn’t been that big of an adjustment now that she has hearing aids. Her impairments do not define her, they simply make her unique.
Where we are today in Aly’s journey is that we are in the process of setting up her hearing therapy as well as trying to find her vision therapy and resources. I have contact a preschool program in Starkville for children with multiple disabilities about getting Aly enrolled. There is a chance she could start in August at 14 months old, but they may not take her until she is 18 months old. This preschool will be a huge change for her as well as for me. I won’t be allowed to stay and watch her the way I do with her therapies, so that will be difficult. I love being involved in every step she takes along her journey. I love watching her discover and try new things. I try not to focus on what she cannot do but rather what she can. I say “try” because I must admit that it hasn’t always been easy, especially when I see children her age walking, talking and playing with toys. I know Aly will do all these things in her own time. She has taught me to not rush through life, to take a step back and focus on the important things, such as family and love. It’s the little things in life that define who we are. I appreciate so much more every laugh, every smile, every grasp of a toy and clap of a hand. These small moments bring her one step closer to the rest of her life, and her life will be beautiful, I guarantee.