Under the Microscope

When you find out your child has hearing loss, often times you are offered genetic counseling/testing. Why would parents want to have their genes or their child's genes put under the microscope? Should we just accept that “it is what it is” or “it was just meant to be?” It is a very personal choice, and we wanted to give you our thoughts on why we chose genetic testing. There are several benefits of genetic counseling:

1. As children get older, they will have questions such as “Why me?” or “Why don’t my ears work?” or a number of other questions that you need to be able to answer.
2. Also, when children become adults and want a family of their own, is there any likelihood that they too will have deaf children? Or was their hearing loss an isolated case?

3. Having the counseling can also help you answer questions such as, "What is our risk to have another child with hearing loss?" "Should we have more children? Do we want to have more children?” Some people really struggle with these questions that can be an emotional concern as well as a financial and a major health concern.

4. Health! Up to 40 percent of children with hearing loss have other issues, which is almost half of the kids with hearing loss (according to www.raisingdeafkids.org/speical)! Sometimes children may have an underlying syndrome, and hearing loss is secondary to that syndrome. Many kids with syndromes may appear to be fine to the untrained eye, but with a full exam from a genetics specialist, it may be determined that the child has syndromic hearing loss. Finding this out ahead of time can really be beneficial. A child with a syndrome may need other testing to determine if there are other complications or concerns that need to be addressed. Sometimes as a child with a syndrome ages, other things develop that can cause concern that could possibly be addressed earlier. The child could develop cognitive delays, growth abnormalities or visual impairments, ADHD, or even more serious developments such as kidney or heart or spinal problems. Having these issues addressed in the beginning can help you decide which follow-up care or continuing care to pursue for your child. It helps you be on the lookout for certain issues to develop, and if they do, you’ll know whom to contact.

5. Relief. Genetic counselors can also test for nonsyndromic hearing loss. For example, a mutation in the connexin 26 gene (called GJB2) causes only hearing loss, so if your child has that gene mutation and nothing else, you’re pretty well assured that hearing loss is all you’re dealing with. Mutations in other genes can be associated with other medical problems.

We wanted to talk more with Dr. Nathaniel Robin, Professor of Genetics and Pediatrics at UAB, on the subject of genetics and here’s what he says...

"As you mentioned, there are many benefits to a visit to the geneticist. But because very few people even know what a geneticist is, they are often nervous about coming to see us. A visit to the geneticist is very similar to any other doctor visit in some ways, but very different in others. For example, we spend a lot of time getting background information on your child as well as your family. Then, when I examine your child I look for very subtle things, like facial characteristics. Are the ears and nose normal in appearance? Are there unusual birthmarks, or fingerprint patterns? This is mostly done just by looking and observing, very little poking. If there is no other unusual findings, we often recommend testing for isolated hearing loss genes. However, if there are other findings we discuss what they mean, and what testing if any should be carried out. Genetic testing typically involves nothing more invasive than a simple blood draw.
All in all, most people find these visits helpful, as many questions are answered, or at least addressed.
A visit can get very emotional, and parents will often become upset because we are discussing potential health risks for their child. We always follow up each visit with a comprehensive and detailed note, as well as additional reading material as appropriate. Another often unspoken concern is if a genetic evaluation and testing is covered by insurance. The answer is almost always yes, but if that is a concern we can check before your visit.
To make an appointment with UAB's Genetic Clinic call 205-934-9528."

So you can see, at least in our opinions, a visit to the genetics office can be quite beneficial. Talk to your audiologist or ENT about genetic testing if you are interested and they will surely point you in the right direction.