Help kids advocate for peers with genetic disorders

As parents, we know all too well the importance of teaching our children to treat others with kindness. But we don’t often talk to them about how to advocate for people with disabilities or those who may be differently abled, particularly those with genetic conditions. The truth is, rare genetic disorders aren’t so rare, affecting about 1 in 20 people. Thanks to accessible and readily available genetic testing, we are learning more about these conditions every day.

I’ve been a genetic counselor for 20 years and have worked with children with a broad spectrum of needs and conditions. I began my career in pediatrics and worked at Children’s Hospital of Philadelphia where I met many families whose children were diagnosed with different genetic conditions. One of these conditions was the 22q11.2 deletion syndrome (22q for short), a relatively common underdiagnosed condition caused by a small missing piece of the 22nd chromosome. Since then, I’ve made it my mission to raise awareness about 22q and other rare genetic disorders. This includes educating my own three children about the importance of genetic testing, advocacy and raising awareness about genetic disorders.

A recent study found that the prevalence of 22q is greater than that of other commonly screened conditions, like cystic fibrosis, and is even as common as Down syndrome in children of younger mothers—yet it is still extremely underdiagnosed. Certain non-invasive prenatal tests (NIPT) can identify 22q with extremely high accuracy very early on into pregnancy.

This is important because children with 22q and no obvious heart defect aren’t diagnosed until age 4 on average, resulting in missed opportunities for early interventions to treat problems associated with the syndrome during critical developmental periods. Early interventions are crucial in helping these children reach their full potential.

As a community, we can do more to ensure this type of screening is available to all mothers, and that insurance companies provide coverage for screening for all families who want to know this type of information. Additionally, it’s equally important to educate our children about how they can play a role in removing the stigmas associated with various genetic conditions and raise awareness about these conditions while also helping parents and children who have genetic diagnoses.

So, what can we do as parents to talk to our children about the importance of advocating for others? How can we lead by example and practice advocacy with young children, tweens and teenagers?

As a mom, I teach my kids to try to speak out for others who may be struggling or have a disability. You can start by having a conversation with your child when they are young about what genetic conditions are and how these conditions can affect every aspect of people’s lives. Some of the best conversations aren’t planned; when you see a person with a genetic condition, take that opportunity to show your children in the moment the importance of understanding and inclusion.

Your children can also learn by example and model your behavior. Each year my kids and I participate in the Virginia Beach City Schools’ Holiday Connection program, and my children shop for other children who won’t otherwise receive presents. Over the past few years, we organized a neighborhood Blessing Bags charity event for homeless individuals. This year, my oldest created the online sign-up for the event and my two younger children are overseeing another part of the event. You can create your own events or many local Virginia organizations will accept children volunteers, especially around the holidays.

There are so many organizations and groups of people who can benefit from an advocate — young or old.