"Reason to Hope," by Melissa Chaikof

When Melissa Chaikof receives first learns that her daughters are profoundly deaf and then, when they are older, that they are also going blind, she cannot sit back and wait for others to find a cure. First with early cochlear implants and Auditory-Verbal therapy, she teaches them to hear and speak. Now, she is working full-time and determined to rescue their vision.

Melissa Chaikof is originally from Baltimore but has lived her adult life in Atlanta and Boston. Originally working in the field of applied math, she made a career change when two of her three children were born deaf, becoming an advocate for early cochlear implants and Auditory-Verbal therapy to enable children who are born deaf to hear and speak. After learning that her daughters' deafness was the result of Usher syndrome and that they were also going blind, she and her husband founded Usher 1F Collaborative, making significant strides in research to rescue their daughters' vision. In her spare time, she likes to spend time with her family, explore Boston, and read.

 

Transcript

Nine of us are seated in a row in the large auditorium: my husband and I, our two younger children, both sets of grandparents and my daughter's auditory‑verbal therapist, without whom this moment would not have been possible.

We all clap and cheer as my older daughter wins one of her high school's three top academic achievement awards at her graduation. In addition to pride, I feel a sense of accomplishment. Vindication and relief.

She had been born profoundly deaf. My husband and I had spent many years fighting the naysayers who said she would never comprehend spoken language or talk. First, getting her a cochlear implant during the FDA clinical trials and then helping her each step of the way, spending countless hours bathing her in language, taking her to therapies, helping with her homework.

This award is the culmination of all my hard work. And so, in addition to pride, I feel my shoulders finally relax. We did it. She is living proof of what I'd fought for for so many years. The belief that children born deaf today can learn to hear and speak, thanks to early cochlear implants and auditory‑verbal therapy.

When our first child was diagnosed as deaf when she was two months old, I cried for 24 hours and then I needed to do something. I couldn't do nothing. Moms are supposed to make everything better.

I started calling and researching, because I was going to fix this. And I did, both for her and for my younger daughter who was also born deaf.

Despite their deafness, my daughters thrived. They successfully navigated their way through mainstream schools and activities. By 2006, with my older daughter finished high school and entering college, I felt that I had earned the right to sit back and relax a bit. That I had climbed that hill and could now sit back and enjoy the view. But that view turned out to be a mountain.

Two months after graduation, on August 8, 2006, a date that sticks in my mind, our day started early. My daughters and I had our annual eye exam appointments that morning. At the doctor's office, my daughter went into one exam room and my 11‑year‑old daughter and I into another. We met back in the waiting room while our eyes were dilating.

My older daughter got there first. When I entered, I immediately noticed the anxious look in her eyes. She asked me if anyone had ever mentioned that she had a constricted visual field.

I felt my stomach drop, my skin broke clammy, my mind raced while trying not to convey my fear to her, but I knew. I knew that this meant the diagnosis we had long feared but thought we'd escaped after years of clean eye exams, the reason my girls were born profoundly deaf, Usher Syndrome, the leading cause of inherited deaf blindness.

Children with Usher Syndrome Type 1, the most severe form of this rare genetic disorder for which no treatment currently exists, are born profoundly deaf with impaired balance. Then, just when parents think we have successfully addressed the deafness, the double whammy, as we refer to it, hits. Because Usher Syndrome also includes retinitis pigmentosa, affected children progressively lose their vision. First, with loss of night vision in early childhood, followed by loss of peripheral vision, so that they are looking through an ever‑shrinking paper towel tube until sometime during adulthood, they are totally blind.

Back in that waiting room, my stomach churning, I tried to control my breathing and remain outwardly calm, but I knew, we both knew. Only my younger daughter was oblivious.

The next few minutes were a blur. I remember sitting in the exam room, hearing the doctor tell us with a sorrowful look on her face that she saw the telltale spots on my daughter's retinas. My girls had Usher Syndrome. They had retinitis pigmentosa. They were going blind. It registered but it didn't. My mind was fighting the reality.

We were escorted to another floor, my still‑oblivious younger daughter skipping along, where we were seated in chairs outside a room and told to wait for the technician who would perform a visual field test. We waited for over 10 minutes, my daughter sobbing, "I can't lose my vision. I need my vision," while the technician saw us but ignored us talking on her phone.

I felt helpless. Blindness is a terrifying diagnosis for anyone, but even more so because my daughter was a gifted artist and a month from entering art college.

When we'd received the deafness diagnosis, she'd been a happy, clueless two‑month‑old, but now she was 19. Watching her suffer was the most painful thing I had ever experienced. I wanted to fix it, but I didn't know how.

Finally, the department head came out, saw the situation and ordered the technician to get off her phone and give my daughter the test. Still crying, my daughter had to look into a large sphere and click a button whenever she saw a flash of light. More tests followed. The day was long and a blur. We were well past lunchtime.

Our last visit was with the retinal specialist, a visit I can still see and hear in vivid detail today. She had my daughter's test results, including the printouts of the visual field test.

I was sitting there numb and in shock, my daughter still crying, wiping at her eyes, and my younger daughter tired and hungry by then.

The doctor held the papers out in front of her, karate chopped them in the middle with her other hand, looked at my daughter with an almost angry look on her face demanding, "This is severe. It's not very, very severe, but it is severe. How could you not have noticed it?"

She then handed us a sheet of paper with information for the low vision center and told us we should go there. That was the end of the appointment.

Now, I felt anger, perhaps a healthier emotion. How could this doctor be so insensitive? Had she received no training in bedside manner?

At home, my daughter fell to pieces. She got into bed, alternately crying and sleeping and would not get up for two days refusing to eat. I needed to focus on helping her through her pain. I couldn't let her see mine. And so I cried in the shower where no one could hear me.

On the evening of the second day, she finally emerged. Seeing her out of bed gave me a sense of hope that we would begin to get through this. And this was a turning point for her. My strong determined daughter returned, looking up at me saying, "I have never let my disability stop me before and I'm not letting it stop me now."

My husband and I researched the top retinal specialist and we made a trip with our daughter to see one at the Johns Hopkins Wilmer Eye Institute, thinking, surely, he could offer some encouragement with news of cutting‑edge research. However, he turned out to be an older man who was set in the knowledge he'd gained over his long career.

When I asked him about the chance for a cure at my daughter's lifetime, he told me it would not be possible. That was the low point for me. I felt both despair and anger. How could he look at a 19‑year‑old and predict the entirety of medical events in the many decades she had ahead of her? That visit seeded my determination to change the trajectory of research for a cure.

I would give my daughter's normal hearing and vision in a heartbeat, if I could, yet Usher Syndrome has brought into our lives so many wonderful people and opportunities that we would not have otherwise had. My daughters have had to face challenges that have made them stronger, both choosing fields of service, giving back to others, leveling the playing field for those facing disabilities and discrimination.

I am proud of my daughters for moving on, living their lives to the fullest extent possible, despite living with the weight of diminishing vision. I still have to fix it, though. I have to help them shoulder that weight. I could not and cannot sit back and do nothing and watch it happen, leaving it to others to maybe do something.

So, in 2013, my husband and I founded Usher 1F Collaborative to address the absence of research for a cure. We started out knowing two other affected families. Now, we have a network of over 70 individuals and over 50 families working together for a cure.

We have engaged nine research labs, funded $9 million in research, including creating two animal models, a zebrafish and a mouse, developing and testing gene and drug therapies on these models and advancing at least one gene therapy to within five years of testing in humans.

Our work has not only given our daughters hope, but I sleep better at night because I know I am doing everything I can to give them a brighter future. Seeing the research through to fruition has become not just my full‑time job, but my passion. I may not have fixed my daughter's vision yet, but I know I am leaving no stone unturned to ensure it happens. I haven't yet reached the top of that mountain, but I know I'm getting closer. I have reason to hope.