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Why We're 'Fighting for Sight' for Our Daughter's Rare Condition

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 A year after my husband, Justin, and I were married in 2016, we learned we were becoming parents. We were thrilled. After a healthy and uncomplicated pregnancy, our daughter Lia was born on March 14, 2018. She is a beautiful, smart, feisty little soul entered our world and we’ve been in love ever since.

Just 12 hours after Lia was born, a nurse asked Justin to accompany her to another room while they performed a standard newborn hearing screen. Lia failed that test, and so began our new life — a life of constant concern.

Instead of enjoying our sweet little baby, we spent those precious moments worrying. Can she hear anything? How bad is it? Is it just fluid in her ears? The doctors and nurses told us not to worry, but we knew something wasn’t right. Lia was 3 weeks old when she was diagnosed as profoundly deaf. We were crushed and cried the entire car ride home and days to follow. “What can we do?” was all I could manage to say through my tears. After being told hearing aids would be useless for Lia, the audiologist mentioned cochlear implants (CI) as a potential option – it was the first time we had ever heard of this.

Implantation and Lia’s hearing journey

In the coming months, while we waited to learn if Lia was even a CI candidate, Justin and I dove into research about this new medical device that could give Lia the chance to participate in the hearing world. A device that neither of us knew even existed, was now going to be the most significant thing in our lives.

Lia was 6-and-a-half months old when she underwent bilateral cochlear implant surgery. 11 days later, we took her to our audiologist’s office and she was “activated.”  It was the most incredible experience to see our baby’s world open up. To see her sense of hearing awakened was a moment I will never forget or take for granted.

People always tell you, “10 fingers, 10 toes…” but no one ever thinks about if your baby will be able to hear. Lia could now hear sounds, but we had a lot of work to do before she would understand how to listen. Together, we do several hours of therapy per week as well as attend a specialized school designed to teach deaf and hard-of-hearing children to listen and speak. The resources we have supporting us are incredible. For that reason, Lia is excelling. Her listening and spoken language skills are at or above her typical hearing peers.

Receiving an Usher syndrome type 1B diagnosis

While we prepared for Lia’s CI surgery, we were advised to have genetic testing to determine the cause of her hearing loss. This was to rule out any possibility of a syndromic diagnosis that might lead to other issues. Again, we were told not to worry as this was only in very rare cases of hearing loss. On August 3, 2018 we got a call from our geneticist and learned we were one of those very rare cases. Lia was diagnosed with Usher syndrome Type 1B, which doesn’t only result in hearing loss, it destroys the vestibular system leading to serious balance issues for the rest of her life; but more significantly it leads to childhood vision loss, ultimately leading to blindness. It was the most devastating day of our lives. We had just become comfortable with the fact that our baby was deaf…but now she would go blind? It was crushing and felt like something we would never recover from.

How do you learn to cope with a diagnosis that will worsen as each day passes?

We must be strong for Lia – who is too young to comprehend the struggles she will face. It is our job to try and lessen the challenges she will face and also be present so that each day of her life we are preparing her a little more for her future. Justin and I cope by turning grief into action. We take action everyday so that we can change the course of her life. It is possible.

Usher syndrome type 1B

Usher syndrome type 1B is a rare genetic disorder caused by a genetic mutation of the myosin7a gene. This gene is responsible for the maintenance of the photoreceptors of the retina, the function of the stereocilia (hair cells) in the cochlea and the vestibular system. When they aren’t working properly, sound as well as information about balance and orientation is not sent to the brain. Since Lia was a good candidate for cochlear implants and we knew that through a lot of physical therapy we could help her with her balance issues, our biggest concern was that there was no treatment for her loss of vision. At least not yet.

Save Sight Now 

We have spent every spare moment researching promising treatments and working on creating our foundation Save Sight Now in order fund medical research. We have organized other families affected by Usher Syndrome Type 1B from across the world.  We have forged a partnership with the Foundation Fighting Blindness (the world’s largest eye disease foundation). The partnership allows us to fundraise and collect tax-exempt donations. We also have access to their world-renowned scientific advisory board who advises us on the most promising research to fund.

There are researchers working on treatments that could prevent Lia from losing her vision today, but rare diseases often lack the funding that is needed to find a treatment because the patient pool is so small. It is often left to parents like us to help fund this research up to a proven proof of concept. At that point, it becomes more attractive to pharmaceutical and biotech companies. Long story short – the science is there, but the funding is not. Our mission is to fund promising Usher 1B — or retinitis pigmentosa — medical research and research teams in order to help them discover treatments and get into clinical trials before Lia and others with Usher 1B lose too much of their vision.

It is literally a race against time.

But we know we can do it. 

To learn more and donate to the #FightforSight campaign, visit Fighting Blindness.

Originally published: September 9, 2019
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