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The Importance of Genetic Testing

April 7, 2016

by Susie Trotochaud

It’s hard to believe that it has been almost four years since we found out that our 15-year-old twins have Usher syndrome.

Like many of you, we had already learned to accept the challenges that go along with having a child born with hearing loss. We had moved through the stages of denial, anger, sadness and acceptance that come along with the greatest of life’s challenges. We had moved on and begun to feel only joy and pride at the accomplishments our children had achieved thanks to the miracle of sound and speech brought to us by the cochlear implant, not to mention a lot of hard work.

Then W H A M, out of nowhere, Usher syndrome roared into our lives. Nobody saw it coming, although the signs were all there: Profound deafness at birth, delays in reaching early milestones, especially walking, poor balance, and then difficulty seeing at night. That last one was the one that finally led us to action.

So, why had we missed all of the telltale signs of Usher syndrome? We were concerned, informed and active parents. We learned everything we could about hearing loss, our options, and cutting edge research. We saw doctors, clinicians, audiologists, speech language pathologists, and specialists. We even saw an ophthalmologist, as our children were premature, and vision issues are associated with prematurity.

And with all of these experts and all the research, we never were asked about or heard of Usher syndrome. Why? Because we already had a quasi-diagnosis of Connexin 26 from early genetic testing.

Within the twins first year, it was recommended that we have genetic testing done. Because they were twins, only one of them needed to be tested. No need to draw blood from two babies, right? And if they are twins, they surely have the same genetic condition.

We had blood drawn from our son, and it was sent off for genetic testing. After about six months, we received notice that the testing came back with no known mutations. Not surprising for 2001, as only about 5% of the genetic mutations that caused hearing loss were known. However, two months later, we received a letter that told us that quality control testing showed a single genetic mutation for Connexin 26 was found. Although it takes two genes to make up an autosomal recessive disorder, surely this was the cause for our twins hearing loss.

For those of you who aren’t familiar with Connexin, it is associated with hearing loss alone. So, Usher syndrome certainly came to us as quite a surprise. But no less so for anyone of you, I’m sure! Our second go around at genetic testing in 2012 took about a year, with one lab only finding one of the two genes, and a second lab finding the other. Of course, this was just confirmation of what we already knew…our kids had Usher syndrome.

I have no doubt that the journey for many of you with genetic testing is no less surprising. Up until a few years ago, many of the genes that cause Usher syndrome were not even known. Before that, if you were genetically tested, it was probably done through a research study in which your results were never given to you. For many, genetic diagnosis was never even recommended.

But having a genetic diagnosis is extremely important. And here's why:

You may question why when you consider there is currently nothing available to help those with Usher syndrome. Some may argue that the cochlear implant is the only “therapy” available, but there is also an argument to be made that there is a choice involved with modality of speech, and many have made a different choice, or never had that choice available to them. So let’s keep that out of the equation.

That being said, there are currently no treatments available to help those with Usher syndrome. So how does genetic testing help us get therapies, specifically, something to help slow, stop or reverse the degeneration of sight caused by Usher syndrome?

Pull-quote: If you were to ask the head of a pharmaceutical or biotech company working on an orphan disease why they chose that disease to invest their money in over others, they would tell you at the top of their list was an organized and accessible comm

Some might say that we need more researchers; others would argue that we need government assistance; and everyone would agree we need more money. I would argue that we need a community. Not just a community, but a genetically-diagnosed and accessible community. Because everything that has ever been accomplished in research and development for orphan diseases has been done for that disease because there was a significant population of people officially diagnosed with that disease who were accessible for research and clinical trials.

This is the key to advancing any science.

This does not mean a community of those associated with the disease, but a number of people with the disease, and with a genetically-confirmed diagnosis, and who are accessible - we know who you are, what gene you have and where you are.

If you were to ask the head of a pharmaceutical or biotech company working on an orphan disease why they chose that disease to invest their money in over others, they would tell you at the top of their list was an organized and accessible community. Because without official genetic diagnosis, individuals would not be able to participate in trials.

If we want to move the science along and have a therapy that works, we must make sure everyone in our community has a genetically-confirmed diagnosis. And the time couldn’t be better for it. We are closer than ever to very hopeful clinical trials. Today, eleven genes have been identified and genetic confirmation of those is relatively easy. There is still a number of unidentified genes, but the more people that get genetic testing, the more of those genes that will be found.

So if you have not already done so, please go to your primary care physician and request genetic testing. Check out the Usher Syndrome Coalition website to find out how. And if you tried to get a genetic confirmation in the past and you were unsuccessful, now is the time to try, again. Let’s let everyone in the medical community know that we in the Usher syndrome community are organized, accessible, genetically-diagnosed, and ready to find a cure.

Learn more about how to participate in the Usher syndrome genetic testing initiative, and visit our Q&A page to learn about the importance of genetic testing and find answers to other frequently asked questions.

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