Just Diagnosed? What 15q13.3 Means & What To Do Next

I remember when I first got my genetic test results, which were positive for my youngest daughter and myself having Chromosome 15q13.3 Microdeletion Syndrome.  At first, I was like, “What the heck does that mean?!” However, after speaking with a geneticist as well as our personal doctor, I feel so positive about this diagnosis. For me, it explains WHY I have the issues that I do. So, let’s get started, and just know that I have been in your shoes.

What is a 15q13.3 Microdeletion?

To put this very basically, every single cell in our bodies has 23 pairs of chromosomes. These chromosomes are the “instruction manual” for operating a human being. That’s right, we are kinda like computers!

When someone has a microdeletion, it means that one tiny teeny piece of one of those instruction manuals is missing. Think of it like the human body is a big book, full of instructions on how our bodies are supposed to operate. Now, a microdeletion is like a missing page from that big book. For us, the 15 stands for which chromosome is affected. Then, the q13.3 stands for the precise location on the 15th chromosome where the “missing page” is supposed to be.

Microdeletions are so small that they can’t be seen under a regular microscope. These “missing pages” can only be seen by using a high-tech test called “chromosomal microarray.”

Why Does One Diagnosis Look So Different?

One of the most confusing parts of 15q13.3 is that it’s considered a “variable” condition. Just like with autism or other disorders, what one person’s struggles are can look totally different from another’s. A good example of this is my daughter, Allie, and me. I struggle with time management, executive function, auditory processing disorder, and have a slow processor. However, I am incredibly imaginative and resourceful, so I’ve managed to fare okay in life with a little help.

However, Allie is different. She has autism, intellectual disability, sensory processing disorder, auditory processing disorder, and multiple food allergies. I hopeful for the future, but at this point in her life (she’s now 15), I don’t see her being able to ever live on her own without substantial support. Same microdeletions in the same area, but our challenges and abilities are quite different as far as being able to live independently.

Important Note: If your child has this deletion, it is not your fault. Genetics is a game of chance, and there is nothing you could have done during pregnancy to change the outcome.

Role of CHRNA7 Gene

Scientists have identified a specific gene within 15q13.3 called CHRNA7. This specific gene is responsible for creating receptors in the brain that help neurons communicate. When it is missing, the “electrical wiring” of the brain struggles to pass messages efficiently. Thinking about you or your child, are things starting to make a little more sense now?

5 Steps to Take Right Now

• Consult a Genetic Counselor: They are the best people to explain the specifics of your report and help you decide if other family members (like parents or siblings) should be tested.
• Assemble Your Team: Depending on your specific symptoms, your “village” might include a pediatric neurologist, a speech-language pathologist (SLP), and an occupational therapist.
• Connect with the Community: Rare disease life can be lonely, but you aren’t alone. Organizations like the Reeds Reach offer resources and connections to other families who “get it.”
• Check out my previous post about 15q13.3 by clicking here.
• Learn about a new discovery here about CHRNA7.

The Bottom Line

A diagnosis is a tool, not a fate. It doesn’t change who your child is; it just gives them different abilities and challenges. To maximize their chances of success in navigating life, get them the right support.