Posts Tagged ‘Usher’

Obtaining a Correct Diagnosis and Becoming an Educated Parent

Monday, February 1st, 2010

Amy: Let’s discuss a topic which is tangentially related to Auditory Verbal Therapy– and that is, diagnosis.  Recently on CI circle, the topic of Usher Syndrome came up.  Many parents proclaimed that their children did not have Usher Syndrome, though they did not know exactly why they were deaf.  In the past, I have also heard parents discuss hearing loss, and found that often they had previously believed that their child could hear based on their own “tests” at home, or worse, “testing” that their family doctor performed.

There are two major problems here.  First, we want to disseminate factual information about Usher Syndrome.  Myths abound in the community of those with hearing loss.


-it’s rare

-you can tell if you have it, by early childhood

-typical gene testing done on deaf babies can usually diagnose early

-lots of babies walk late

First, it is not rare in deaf children.  More than 1 in ten are probably afflicted with Usher Syndrome.  Children usually don’t know until teens or adulthood.  There are only 3 ways to diagnose this, and it is not typically tested in the ordinary testing done by geneticists or family doctors who know a child is deaf.  Most kids have been tested for Connexin 26 and 30, had their kidneys tested and had an EKG. They may have had testing for CMV.  But only recently has the (very expensive) gene testing for most Usher Syndrome genes been available; not only that, but there are STILL unaccounted for genes for Usher Syndrome.  So, if you don’t know the cause of your child’s  deafness, you can be sure that Usher Syndrome is still one of the possible causes.

Once you have a child who is walking late, you have an even greater likelihood of falling into the genetic likelihood of your child having Usher Syndrome, if they are deaf.  Average babies walk at around 13 months, with the medical community suggesting concern or testing when a baby is not walking by 18 months of age.  And yet, we still hear of people pooh-poohing parents who are concerned about their 20 month old not walking.  Sure, there are kids whose range of normal is outside of that time window, but this is cause for concern, especially if they know that their child was not premature and has no other serious health problems which would inhibit walking.  There are also confirmed cases of Usher Syndrome in kids who walked within the normal time frames.

The only way to confirm Usher Syndrome is with an ERG test, which can be difficult for children.  Gene testing which is positive can also confirm, and lastly, the newer OCT (Optical Coherence Tomography) tests can confirm, if there are signs on the retina.  Dark adaptation testing can also confirm the need for further testing.

We also want to make sure that parents can identify children with hearing loss early.  Some babies missed their newborn screening, or were born with hearing but had a decline within months or years.  Don’t rely on the guesses of uninformed “professionals”– get a full ABR test to find out.  Don’t believe that it’s just “fluid in their ears” or that “boys talk later.”

Melissa, I believe you have some directly related stories?!?

Melissa: I first became concerned that Rachel could not hear when she was all of a week old when I noticed that she did not startle.  When I began informal testing on my own, I could not get her to respond.  At her first visit with the pediatrician when she was three weeks old, I voiced my concerns.  His response was, “You are an overly anxious new mother who does not understand how newborns react to sound.”  At her two-month visit, I voiced my concerns more forcefully.  He told me that he would show me she hears and banged something behind her head while I was holding her.  He tried a few times, thought he saw her eyes blink once, but agreed to refer her for an ABR.  A few months later, I showed him an article on the importance of early detection and early intervention for babies with hearing loss.  He responded, “I think we caught it in time.”  Awhile later, we left him.  When our son was born, he was the pediatrician on call, but he sent his partner instead.  We knew why, but his partner didn’t.  We mentioned concern about hearing, and he clapped right in front of Adam’s face, and then Adam blinked.  He then said he hears, and I told him he needed to clap behind Adam’s head far enough away that Adam wouldn’t feel air from his clapping.

When Jessica came along, we found out that she was deaf when she was less than 24 hours old.  When our pediatrician in Atlanta saw Jessica at an early infant visit, she noted her arching her back and her overall floppiness.   She proclaimed to me, “She has the most amazing collagen vascular system I’ve seen.”  I looked at her thinking but not saying that that was one of the most off-the-wall diagnoses I’d ever heard and explained to her about vestibular issues.

These stories point out that we, as parents, need to trust our instincts.  No one, including professional experts, knows our children as well as we do, and no one spends as much time with them as we do.  In addition, while medical professionals have to learn about multiple problems and issues, we get to subspecialize in just our children’s issues, and so, if we take the time to educate ourselves, we may actually learn things that the professionals do not know.

Looking at the flip side, we can also use these opportunities to educate the professionals.  My husband’s cousin, who is a pediatrician, told me that, after hearing the story of our path to having Rachel’s deafness confirmed, he always takes parents’ concerns about their children’s hearing seriously and will also observe for hearing during their visits.  When Rachel was a baby and toddler, we had both medical and educational professionals insisting that she would not be able to master spoken English, that she needed to learn sign, and, later, that cochlear implants don’t work.  Several years later, when Rachel was a hearing, speaking teen, I contacted three of these professionals, all of whom remembered us, and told them about Rachel and emailed them links for videos of Rachel so that they could learn how wrong they were and, I hope, counsel future parents differently.

Amy: I think that, in a nutshell, we both think that parents’ suspicions should not be discounted, and if they have a feeling that something isn’t quite right, they should try to get an answer.  It is never wise to simply rely on the advice of one or two professionals.  Read, become educated, insist on appropriate testing.

Being concerned is not just alleviating the mystery.  Late diagnosis of deafness might result in inability to speak and delay in education for years.  Late diagnosis of Usher Syndrome has the potential to result in inability to take advantage of the upcoming therapies which are on the horizon.  Make it your business to ask questions, research, and find answers.

Definitions and Resources:

Hearing Tests:

You need either an ABR or ASSR to determine if your child or newborn can hear. An ABR should be done as soon as possible because older babies and children may need to be sedated. ABR requires quiet stillness in order to be performed.  Click here for additional information.

An ASSR test can distinguish the amount of hearing in the significant loss areas (severe to profoundly deaf) with great accuracy. For me (Amy), my younger son’s ASSR showed no response to 120 db. This not only encouraged my surgeon toward our preference of early implantation, but gave me a “break” regarding the hearing aid trial, which had been going along with little or no results (but a lot of aggravation). I knew that he had no residual hearing.  Click here for more information.

OAE tests are often used in screening, and should be followed up with an ABR test. Anecdotally, I (Amy) scheduled an ABR for my 4th son because my 3rd was deaf. When I arrived, they had accidentally scheduled an OAE test, which he “sort of passed” (I will leave the part out about how my husband stormed around and threatened when they insisted that they didn’t have the appropriate people that could administer the ABR on that day). We waited another 48 hours only to see him completely fail the ABR. We weren’t terribly surprised, but we were somewhat surprised, as we have two hearing sons as well. The point I am making is that the OAE was not sufficient for a child in a family who already had hearing loss. We were trying to bypass the screening and go straight to the findings… but as we have often found, the “professionals” were confused and didn’t realize that we knew what we were doing when we scheduled the ABR test. Suffice it to say, the person who said he has passed the OAE was chagrined and learned a lesson. Whether it was her incompetence or the OAE itself, I will never know. OAEs record the sound produced by the cochlear hair cells, a “byproduct” of the hearing process. It is a cheaper screening tool, but a full ABR is required eventually. ABR tests record evoked electrical responses to sound at the brainstem level.

It’s a complex science, but with either the OAE or the ABR, one will eventually have to have an ABR.

Otochip testing for hearing loss and Usher Syndrome is available here.

Consent and ordering information regarding testing is available here.

Specific Usher Syndrome information is available here.