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Discovering the causes of my hearing loss after 23 years

how to find the cause of my hearing loss
I grew up with a severe hearing loss. Twenty years later, my hearing worsened. Due to this and other medical issues, I ended up discovering the true causes of my hearing loss.

My Hearing Loss Journey

I was born premature and grew up with a severe hearing loss. We assumed that my hearing loss was from my premature birth. We knew that some of the bones in my ears didn’t form properly because of that. However, there was never any condition to explain any other causes of my hearing loss. Doctors searched high and low and made every attempt to place me into a genetic syndrome at birth. However, despite my prematurity, hearing loss and other complicated medical issues, I didn’t meet the criteria for anything at the time.

My hearing loss just became normal for me. I eventually got to the point of not even recognizing it to be a medical condition, even though it is. It became a part of my identity. My entire life I’ve worn hearing aids and had amazing therapy. I always had the proper accommodations and access I needed to communicate and succeed with hearing loss.

“My hearing loss became a new normal.”

Then, at age 15, I developed a whole host of other medical concerns and symptoms. Around age 20, my hearing started to drop each year. In trying to figure out this mystery, doctors recommended genetic testing. We originally consulted genetics for other medical issues that had nothing to do with my hearing loss. To our surprise, I was given two diagnoses that explain why I was born with hearing loss. These diagnoses were two genetic conditions known as 22q11.2 Duplication Syndrome and CDK-13.

What is 22q11.2 Duplication Syndrome?

22q11.2 Duplication is a genetic condition in which an individual has an extra copy of a portion of the 22nd chromosome. 22q11.2 duplication can create a wide array of symptoms affecting multiple body systems. For me, it primarily included speech impairment, nasal speech, hypotonia, clef palate, scoliosis, heart abnormalities, immune system abnormalities, and of course, hearing loss.

Everyone with 22q11.2 duplication has their own unique symptoms. Some never develop any symptoms at all. For example, I inherited the gene from my mom, but she does not have hearing loss or any other common symptoms of the condition. There is not much known about how specifically hearing loss is caused or impacted by this condition – just that there is a link.

What is CDK-13 gene disorder?

In addition to my diagnosis of 22q11.2 duplication, I was also diagnosed with CDK-13 Related Disorder. CDK-13 is caused by a mutation in one of the two copies of the CDK13 gene. The CDK13 gene is responsible for encoding the protein cyclin dependent kinase 13. This plays an important role in the cell cycle and DNA transcription. It is significantly rarer than 22q. Not much is yet known about the condition, especially in its relation to hearing loss specifically. Like 22q, it is suspected that this too can impact multiple parts of the body. Many overlapping symptoms are associated with 22q, including speech difficulties, cardiac defects, and musculoskeletal abnormalities.

Much more concrete research is needed on the different impacts of CDK-13, including its impacts on hearing loss in order to confirm this information. Anecdotally, a few people with CDK-13 have mentioned that they also have hearing loss. It does appear to be less common than other features.

Read more: Tracing the origin of my hearing loss 

Thinking About My Journey With Hearing Loss

I decided to write on this topic not only to spread awareness about the two conditions, but also to shed light on a recent realization I’ve made in hopes that it can help others.

Receiving these diagnoses after living with hearing loss for 23 years made me start thinking about my own journey with hearing loss in different ways. Since I was born with hearing loss and became accustomed to living life with one, I started to think that I was a pro. Over the years and more recently, I’ve learned that this isn’t necessarily the case. It will always be a learning process. The first time I realized this was when I had to switch audiologists when I was 18 years old. My current audiologist has taught me more than I can imagine about my hearing loss. Every time I leave an appointment, I have learned more.

Read more: Your Audiologist – A lifelong relationship 

A Learning Process

Each time my circumstances changed, I had to adjust – like when my hearing loss started to progress a few years ago. It happened again when I recently encountered challenges having equal access to communication and accessibility I needed. Then, when I found out about these two genetic conditions, I learned that there were real causes for my hearing loss. In fact, when I went through genetic testing at birth, they felt strongly that I’d meet the criteria for 22q11 Deletion (as opposed to duplication) also known as DiGieroge Syndrome. This would have also explained my hearing loss. I would have never imagined making such a similar discovery many years later. This goes to show that life can come with many surprises, especially when it comes to hearing loss or medical challenges.

“…life can come with many surprises, especially when it comes to hearing loss or medical challenges.”

As I learn more about my medical journey with potential Lyme disease (which can also cause hearing loss), or a medical mystery I’m currently chasing, I’ll hopefully  learn even more about the causes of my hearing loss and the consistent drops in hearing.

Author Details
Hi, my name is Danielle! I’m an Psy.D. graduate psychology student with an immense passion for writing and helping and inspiring others in any way I can. I am an anti-bullying and mental health advocate, blogger, and public speaker through my personal blog and social media campaign, “Compassionately Inspired”. I was born with a severe conductive hearing loss and hope to inspire others both in the hard of hearing and deaf community as well as the hearing community. “Everybody has a story”; that’s my motto and I hope my stories inspire you in one way or another.