Matilda’s Story

By: Elisabeth, Parent of Matilda, an individual with a genetic change

“Be vulnerable and go all in! We are a strong community with a strong foundation and only get stronger as people share their stories.”

What is your family like?

We are a family of 4 humans and 2 cats. Both parents are professional musicians so our days are filled with practicing, rehearsals, and concerts (at least before the pandemic). We live far away from family, and have lived in many different cities. I love to garden and grow food, so our house is always the “weird house” on the block, but I hope for a day where it won’t stand out so much anymore!

What do you do for fun?

We like to go on family bike rides on the many trails in our city’s river valley. We like to go skiing and sledding in the long winter months. We also foster cats through a local rescue, which bring a lot of fun to the house. We love hosting fire pits in our backyard with friends. We love doing road trips to visit family and other fun interesting places.

Tell us about the biggest hardship you face.

The biggest hardship we have faced as a family was figuring out what was causing Matilda’s many quirky characteristics, and her trouble with learning. Once we got her diagnosis, it felt incredible to finally have an answer, but also heartbreaking to see that there were still so many questions. I hope that many families step up and sign up for the Natural History Study so that we can get more answers, and I also hope that access to genetic testing becomes more available. We live in Canada and are now on our second wait for a geneticist which will be a minimum of 3 years just because we moved. We are grateful that we were able to get in just before leaving our last province. It has taken 13 years to find a diagnosis for Matilda and it is still a fight daily to make sure she is getting access to the needed therapies, school supports and medical doctors. All of this has had a financial toll on our family, which has been difficult with being in the performing arts where we are often undervalued for our skills. And being a mother advocating for a child with disabilities is even more undervalued!

What motivates you to participate in research? How has participating in research been helpful for you?

I have always felt strongly about participating in research. It is the only way to move forward. My children participated in a study that helped reveal to us Matilda’s challenges, and gave me the information I needed to advocate for further testing. And I hope that by participating in the Natural History Study, I can inspire other families to share their stories, and my child’s profile can inform future studies and treatments. It also really helped to talk to a genetic counselor about our story, and hear that it was not so unique. Some days it feels like such a lonely road to have a rare disease, so it helps to talk to someone who makes us feel less alone.

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

I feel very excited to be a part of it!

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

Most days, I just want to know what the future holds…is that really too much to ask? But seriously, I would like to know if there are certain therapies or medications that can help with symptoms, so that my daughter can live her best possible life.

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

That she is not alone. That there are other kids out there who also have the same seemingly unrelated symptoms. My child is on the older end of the spectrum, so I feel like I am more in a support position and giving information, but it has been really helpful to see the older kids, see what they are capable of, and see how their families have handled things.

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

Be vulnerable and go all in! We are a strong community with a strong foundation and only get stronger as people share their stories.