FAMILY STORY

The Haugherys’ Journey with 1q21.1 Deletion

Be patient as you navigate what it means for your family and how to best advocate for your child.

Cori Haughery, mother of Mariya, a 9-year-old living with 1q21.1 deletion syndrome

What is your family like?

My husband and I have three kids. Two biological boys, and one girl, who is adopted. Our daughter, Mariya, has the deletion syndrome.

What do you do for fun?

We like to be outside, take walks, and eat pizza and ice cream. We enjoy being involved at church and spending time with family and friends.

Tell us about the biggest hardship you face.

Helping Mariya (and all of our kids) learn how to self-regulate is challenge everyday. Having patience and endurance doesn’t come easily most days.

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

The Amazon gift cards are great! : )

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

When we get the reports, it is exciting to know that we have a small part in the research that is moving science and information forward. Knowing that down the road, families who face this diagnosis might not feel so in the dark, is very encouraging and motivating.

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

Understanding adult outcomes better, and having a clearer idea of what symptoms of those outcomes might look like in the younger years (for example mental illnesses).

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

Hearing that other families experience the “Jekyll and Hyde” aspect of their child. One report showed that the main struggle for kids with this deletion was waiting…that was very validating! Also, knowing that many children also have intellectual disability… that has helped us know what to look for and has helped us get more support at school.

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

Be really patient. It takes a long time to come to terms with the diagnosis ,and honestly, just to understand what the heck it even means. Learning how to talk about it has taken me years. Learning the right words/terms to use and how to word things to best portray my daughter has been hard. Just let yourself “digest” the information slowly. Be patient as you navigate what it means for your family and how to best advocate for your child. It is all a lot, and it may take a lot of time.

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

It seems to be the “hub” of information. It is deeply encouraging to know that SOMEONE, SOMEWHERE out there cares about this, and is putting all the time, energy, and resources into learning more about it! THANK YOU!