Happy Tears in the Hair Gel Aisle

You just never know what a day will bring. Last night Randy was sick, so while he rested I took Kelton to get a hair cut. I decided it was time for both of us to have something shorter for summer, and he wanted a mohawk. So after two really wrong hair cuts (his ended up being a spiked up high & tight rather than a mohawk...not sure how that happened...and mine was just plain bad), I took him to the store to get some gel and some pain reliever for Randy.

I ended up on the phone with Randy as I was in the hair gel aisle. He told me that Dr. D., our geneticist/ophthalmologist from University of Iowa had just called him. To hear from University of Iowa between appointments is not terribly out of the ordinary. She has been working so hard to find the genetic mutation that caused Audrena's hearing loss for a long time, and often we will get a phone call asking if our family has a history of this or that. What WAS out of the ordinary is that it was Dr. D. herself that called this time, not her assistant, and at 7:00 in the evening. Randy said, "She found the gene. She was so excited that she just couldn't wait to tell us." It felt like a little jolt of electricity hit me. Dr. D. has been hunting for "the gene" for so long, and we finally had an answer. It is definitely Waardenburg Syndrome. Relief. And then came the tears. Poor Kelton was so worried and just couldn't understand why his Mommy was crying in the hair gel aisle, of all places.

 I had to explain that these were happy tears. Everything was ok. If you have read previous blog posts or followed our story, you'll know that we had a huge mixup with our first round of genetic testing, and a local doctor misinformed us that Audrena had Usher Syndrome. Randy and I spent 2 1/2 months grieving, thinking our daughter would eventually go blind. I had even mentally started preparing a visual bucket list for her. Thankfully, we were able to meet with Dr. D. and then with Dr. S., whose lab had done the testing and whose signature appeared on the testing report. Dr. S. informed us that the local doctor must have misinterpreted the lab report. What we learned is that Audrena is a carrier for Usher Syndrome. However, Dr. D. still wanted to completely rule out Usher Syndrome once and for all, so she has been working hard to genetically prove the cause of Audrena's hearing loss, and in case she could not find the gene she has also been working Audrena up to cooperating for an ERG, the test that detects Retinitis Pigmentosa, which is what causes people with Usher Syndrome to lose their vision.

Dr. D.'s persistence paid off! She had already clinically diagnosed Audrena with Waardenburg Syndrome based on traits carried throughout one branch of my family tree, but she wanted the genetics to prove it. Our first round of testing for Waardenburg Syndrome did not find anything. She kept digging, and she found not a genetic change but instead a deletion that confirmed her suspicion. Relief. Pure relief. All along, Randy had more faith than me and trusted the clinical diagnosis much more than I did. However, I have always had a nagging little voice in the back of my mind that I couldn't let go of due to that first mixup. I have always worried that maybe somehow Audrena did have Usher Syndrome, even though clinically she did not fit, and genetically the testing showed she was just a carrier. Now I can rest. Now that little voice is silenced. Now Randy and I can move on and put the memory of that grief behind us.

Even though we have a diagnosis of Waardenburg Syndrome, we know that it just is what it is (hearing loss, two different colored eyes, very blue eyes, missing semicircular canals in the vestibular system). There are not any other associated issues like vision loss. We do know that there is a 50/50 chance that she will pass it on to any of her children, but Dr. D. talked a little about procedures they can do to help prevent that. It's just another bridge to cross in the future. For now, relief. And happy tears in the hair gel aisle


P.S. For those with Usher Syndrome, we hear that there is remarkable promise for treatment of Retinitis Pigmentosa through gene therapy and other genetic procedures. Dr. D. says they are almost there.

Waardenburg Syndrome?

From the beginning of our journey, I started reading about the genetic causes of hearing loss. I read about the characteristics of Waardenburg Syndrome, and I started to ask questions. We were always told no, that Audrena would have unique facial features if that were the case.

Since the Usher Syndrome mix-up, we have been seeing a really great ophthalmologist at University of Iowa Hospitals & Clinics. We see this doctor periodically to keep up with Audrena's eyeglass prescription and also because she works in genetics as well. She has been working hard to determine what caused the unique characteristics that Audrena has: heterochromia (her eyes are 2 different shades of blue), hearing loss, inner ear/vestibular structure abnormalities, etc. Over the summer, she asked if we had ever heard of Waardenburg Syndrome. Randy explained that yes, we had always questioned it because heterochromia and a lighter forelock runs on my (Carri's) side of the family. She explained that because I have the lighter color forelock and because of Audrena's characteristics, she would like to send a sample to be tested for Waardenburg Syndrome. Type II does not have the distinct facial features, and only roughly 20% of people with Type II have hearing loss. However, she said it does often come with vestibular structure changes. Of course, we agreed to the testing.

The test results showed one variation on each of two different Waardenburg Syndrome genes. However, those variations were ruled "not likely." Because the testing is relatively new in the world of genetics, the doctor asked us to do further testing. She will now be comparing samples from me and other members of my family who have the traits to try to prove her theory that we have a mild variation of Waardenburg Syndrome. If we do, the good news is that it does not change anything for Audrena. It is not progressive, and nothing else will develop. It is what it is. For the rest of us, it could be very informative, especially as the younger generation starts to think about having children.

However, if she does not prove anything with the testing, then we still do not have an answer. I trust this doctor, though, and I think she may be correct. I guess time will tell, but given what we went through thinking that Audrena might have Usher Syndrome I will take Waardenburg Syndrome, or even the unknown. In the meantime, we will continue to see this doctor for Audrena's glasses. It's a long drive, but it is worth it for the quality of care!