The Heidarizadehs’ Journey with 1q21.1 Deletion Syndrome

What is your family like?

Our family faces significant challenges due to our 7-year-old daughter’s specific illness. Living in a country where rehabilitation services are expensive and there’s little support, we’ve encountered a crisis. Despite these difficulties, we love her dearly and do everything within our means to improve her condition. As she grows older, we notice behavioral issues and hyperactivity that sometimes escalate into aggression, making it challenging to manage while both parents work to support her care.

What do you do for fun?

We don’t have much time for fun, and we spend most of our time at home.

Tell us about the biggest hardship you face.

The biggest hardship we face is the lack of support from any organization or institution, as well as not having access to insurance that covers rehabilitation services. We have to provide 24-hour care for our daughter, leaving us with almost no time for ourselves. Recently, she has started mimicking others’ behaviors, including self-harming by picking at and reopening wounds, which is heartbreaking for us as parents to witness. When we have guests, her hyperactivity and constant mischievousness make it difficult for everyone, causing distress for those around her.

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

Because most doctors in Iran had very little knowledge about this illness, I went through a difficult time. I started reading and learning about it myself while facing a lot of fear, as no one had information about the disease, its complications, or the future for children like mine. My motivation to participate in research is to help other parents with children who have special conditions, so they don’t have to go through the same struggles alone.

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

I am fully prepared to help in any way possible so that the team’s research can be completed and a treatment or medication for this condition can be found.

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

The question I am most eager to know the answer to is whether these children will be able to have a normal life in the future.

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

I would say that you have a difficult and challenging road ahead, but these children are incredibly kind and sweet, and this journey will make us stronger as parents.