Ear Tubes and Muenke Syndrome

I failed to post at the time that Violet had tubes placed in her ears October 9th, on her two month “cranioversary” (in other words, two months since her skull surgery). We became increasingly concerned about her hearing capabilities because she was barely vocalizing at all, and the very little vocalization she did sounded strange, almost as if she couldn’t hear herself. I would describe it as very nasally and sometimes it sounded more like groaning or moaning. Many times she would not turn to sound, and we had been told for months that she had fluid in both ears. She has only suffered maybe one or two ear infections, but the fluid was a constant presence.

Additionally, at her post-op cranio clinic appointment in September, a geneticist told us that he thinks she has something called Muenke Syndrome. Our research leads us to believe that she doesn’t exhibit very many of the symptoms, but apparently Muenke Syndrome is often demonstrated by head and feet abnormalities. For Violet, the connection is her craniosynostosis (specifically relating to the coronal suture that was prematurely fused on the left side of her skull) and her bilateral clubfeet. Many patients with Muenke Syndrome also suffer from hearing loss, so that combined with her speech delay led us straight to an ENT for evaluation.

The ENT observed the fluid in Violet’s ears and wanted to start a six-week steroid regimen to attempt to clear up the fluid. He said her hearing was equivalent to a person just stepping off of an airplane. He admitted that because of her craniosynostosis and recent surgery, this treatment option was unlikely to work, and tubes were probably inevitable. He figured the steroid was worth a shot. I left his office with the medicine, but immediately had “buyer’s remorse” and started thinking that we should bypass the steroid and move forward with the tubes. Six weeks is a long time to wait for the inevitable, and I didn’t want to worsen her speech delay. Plus, he pretty much told me that the steroid would not work. After talking with my husband, I called the ENT’s office a couple of days later and asked to bypass the steroid. Thankfully, her ENT agreed immediately. I was all prepared to advocate on her behalf, but he made it easy on me!

Here she was in pre-op just before the procedure…

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The procedure was no big deal at all, just as we had been told by friends. I believe she was the first procedure of the day, so we were there bright and early (5:30, I think). The ENT was ready and waiting, so she was actually taken back about 40 minutes ahead of schedule. I had my usual paranoid discussion with the medical staff about how to handle her because of her OI and then walked with her to the door of the O.R. This time was much less traumatic than last time, since I knew this surgery was very minor. I went back to the waiting room, and literally seven minutes later, the ENT walked in to let me know that she was done and waking up. It was so quick!

I went back to the recovery bay, and she was TICKED OFF. She must be getting so tired of all this medical intervention, and she let me know it! She screamed and cried for about a half hour as I struggled to feed and dress her by myself (Daddy was at home with her sister). Finally she calmed down, and we were out of there. By the time she arrived home, she was totally fine. We’ve had no issues with the tubes whatsoever.

Everyone has seen a huge improvement in Violet’s hearing and speech since the tubes were placed. She is seeing a speech therapist for monthly evaluations just in case, but there is no question that she is hearing and starting to vocalize more. At her two weeks post-op ENT appointment, she passed a hearing test in a booth, so the discussions about sedating her for an ABR (auditory brainstem response test) ceased. She is now saying “Da-da” and often sounds like she is babbling consonant sounds. She mimics a LOT of sounds now, even when she hasn’t turned to look at us. She plays peek-a-boo and says “Da!” (instead of Boo), and she fake-sneezes by bobbing her head and saying “Ahhhh-cha.” We feel much better about her hearing now, and the speech therapist is impressed with her progress.

We have an order from the geneticist to have her blood tested for Muenke Syndrome, but we haven’t gotten around to it yet. I want to wait for a week during which we have no other medical appointments, and sadly that is a rare occasion. I hate for her to be messed with too often during a given week. We want to have her tested for a few reasons:

  • If she tests positive for Muenke Syndrome, she is still at risk of hearing loss as she grows. Knowing for sure can enable us to receive proactive assistance from her school someday.
  • She has a 50/50 chance of passing it on to her children if she has the condition.

Her hearing will continue to be monitored very closely. She goes back to her craniofacial surgeon in February and will have a hearing test there, we have OI clinic in May when she will likely have another hearing test, and then we’ll move forward from there. Several doctors have suggested we have her tested at least twice a year, so she has many years of hearing tests in her future. Hopefully we can catch any problems as they arise, but for now the tubes are a success!