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Parent Perspective: Andrew's Life with Usher Syndrome

​​​​​Sara and Chip Needham

“So…you mean he’s deaf? Is this a permanent thing?” asked my husband, Chip, as we looked at the doctor in confused disbelief. Little did we know that learning he was completely deaf at 5 weeks old was just our first step in discovering Andrew’s true diagnosis.

Andrew’s first few years were difficult for us emotionally. In addition to the social delays due to deafness, his gross motor skills were also delayed from the beginning. He couldn’t move about freely as most children do and seemed to be a floppy baby. We had a nagging feeling that there was an another issue going on other than simply being born deaf.

Although we still weren’t sure of the cause of the challenges Andrew faced, we were able to find the support and services that Andrew needed. We felt so much pride and joy seeing him develop. By 12 months of age, Andrew had received bilateral cochlear implants and we began speech therapy services at Boys Town National Research Hospital. Within 5 months, he was able to make word approximations for mama and dada. It was a thrilling time! Bi-weekly physical therapy helped give him the skills he needed to adapt to his balance loss and use his body to explore his world. It took tons of work (and a lot of therapy) but it was well worth it when we began to see Andrew fully engaged with his environment.

It wasn’t until Andrew was just over 2 years old when the next piece of the puzzle fell into place. We were walking through a somewhat dimly lit cave at our local zoo when Andrew complained, “Mommy – it’s too dark, I can’t see.” Later he complained of the same thing at bedtime when just his nightlight was on. And then there were all the times when he suddenly cried out in pain because the sun was too bright. I had been reading posts on an online chat group known as CICircle when they started talking about a condition that included deafness, loss of balance and vision problems. I suspected I was onto something.

We met with the Neurosensory Genetics team at Boys Town Hospital and shared all the puzzle pieces we had observed so far. They listened closely and started several tests. First it was the vision test, including an ERG which confirmed damage to his rods and possibly his cones. This explained the low light vision loss and light sensitivity Andrew was experiencing. It also included a rotary chair test for balance, which he failed. Then it culminated in a genetics test, known as an OtoSCOPE that finally put all the pieces together conclusively. Andrew was diagnosed with Usher syndrome Type I.

Usher syndrome Type I is an autosomal recessive (genetic) condition which causes profound hearing loss (check!), complete vestibular loss at birth (check!), and leads to retinitis pigmentosa (Ouch!), a degenerative eye disease which usually results in blindness. While this was the diagnosis we were suspecting, it still hit us like a ton of bricks when it was official. We felt intense shock and grief. As time went on, though, we began to accept this diagnosis. At first all you can see are the huge challenges he’ll face his whole life, but then you also start seeing the progress made and the hurdles being overcome and you’re reminded that his story isn’t written yet – and it’s full of potential.

The diagnosis of Usher syndrome has ultimately become very helpful. It helped us in confirming our choice to pursue cochlear implants and to understand Andrew’s vestibular loss. The reality of vision loss helps us take a few preventative measures now (sunglasses, dietary, etc.) and gives us all the more incentive to help develop Andrew’s auditory skills.

I am so thankful that we found out that Andrew has Usher syndrome. Getting our diagnosis has allowed us to take steps proactively and removed the questions about there being another “missing piece to the puzzle.” It has helped us to understand Andrew and accept and rejoice in the amazing child he is. He is truly a gift from God with a bright future.