The McMahons’ Journey With 15q13.3 Deletion Syndrome

What is your family like?

We are the 3 Musketeers – just mom, dad, and Drake. We are all 3 fairly introverted, but we do like to go places together as a family. We are a tight-knit unit. Myself and my husband are both 37 and Drake is 12 years old. We have a dog, Evie, who thinks she is a diva, and we are navigating life with Autism Spectrum Disorder and have been since 2015.

What do you do for fun?

For fun, we like to take trips to a nearby town about 25 minutes away and visit the BNSF Train Depot. Drake likes to take pictures and videos of the trains as they come in and depart. The engineers and conductors have been so great to us – they have given him vests and safety goggles and gloves which he loves. We also love to go thrift store shopping and we have to take pictures of everything we do (we=Drake).

Tell us about the biggest hardship you face.

I would have to say one of the biggest hardships that we face is that while Drake does have Autism Spectrum Disorder and would qualify for assistance, our income knocks us out of the eligibility criteria for things like Social Security Disability Income to help cover his therapy or travel expenses for appointments. A secondary hardship we face is being excluded from family events or being given guilt trips for not attending functions where we know it would be too much of a trigger or overstimulating for Drake. That is hard because we want to be there and involved, but sometimes it just isn’t an option because it’s in the best interest of our son that we don’t go.

What impacts your decision to participate or not to participate in research?

We choose to participate in research because there is still so much unknown about Autism Spectrum Disorder and the more research we participate in, the more we can potentially help experts figure out. Knowledge is power. I cannot change who Drake is, but I can help gain more information about it so that more people can get the resources and help that gives them a better quality of life.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

By supporting and sharing information about Simons Searchlight and what they do and aim to do, we can help gain more insights into DNA mutations or deletions. Doing that allows more people to get answers and the more information we have, the better equipped we can be to navigate life in a way that still allows us to have a high quality of life.

What is one question you wish researchers could answer about this genetic change?

I wish it was more understood what those 7 genes within that chromosome do. I feel like it would just provide more information that could be used to help individuals with the deletion and those who know or care about someone in their life with that deletion.

What have you learned about your or your child’s genetic condition from other families?

I just recently learned that myself and my son have the same deletion of the 15q13.3 chromosome. I am still swimming with emotions and trying to navigate what I have found out. However, it does help to know the source for why/how my son has Autism Spectrum Disorder. We haven’t really met with any other families specifically who have this deletion, but we have met with other families with children on the autism spectrum and it is truly amazing to me how unique every single individual is.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Take a deep breathe. Breathe. You didn’t cause this, it isn’t your fault. You are perfectly unique the way God intended you to be and nothing about you is a mistake. This is just information that you didn’t have before and now you do.

How has Simons Searchlight served as a resource for you and your family?

I have recently just discovered Simons Searchlight, but I am already learning a wealth of information. I plan on participating in any and all research that I can so that the knowledge base for this genetic change can only grow from here.