What is your family like?

We have two boys and a girl and live a pretty typical suburban life. Our daughter, Molly was diagnosed with coarctation of the aorta in utero and had surgery to correct that two days after she was born. While in the CICU, it was found that she had hypoplasia of the corpus callosum. Because of those two issues, genetic testing was done and it was found that she has a de novo variant of the PPP2R1A gene. She has a global developmental delay, hypotonia, and swallowing issues. She has had a G-tube since she was a few months old. She has had seizures, but those are successfully managed with medication. She is able to sit up by herself and can walk limited amounts with a walker. She is non verbal, but is sweet, happy and playful. Molly loves music, watching her brothers and being around other kids.

What do you do for fun?

We enjoy going for walks, bike rides, hikes, games, movies and spending time with family.

Tell us about the biggest hardship you face.

We’ve been through a lot. Many of our biggest challenges are those that don’t seem to have any real answers. Sometimes the most difficult things are the normal, everyday things that we have to deal with on top of the additional appointments, therapies, needs, etc.

What motivates you to participate in research? 

Our daughter’s genetic variance is exceptionally rare. When she was first diagnosed, searching for information online returned zero results. Participating in research is a way that we can contribute to greater knowledge in the field and possibly benefit from new developments.

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

We hope adding our information to the pool of available research data is beneficial.

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

More understanding of this variance and possible treatments would be miraculous.

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

We have had very little contact with other families with the same diagnosis, but we have several friends in the rare disease / medically complex community. They have helped us to find out about benefits, equipment, and other resources. It is always great to visit with them since we have a lot of shared experiences and speak the same language.

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

You’re not alone. A challenging diagnosis will change your life and things will be difficult, but your life isn’t over. You’ll figure things out, learn from your experiences and still find ways to have joy.