November is 22q Awareness Month. If you’ve never heard of 22q11.2 deletion syndrome, you’re probably not alone. For our family, it has been part of my sister’s life since birth, and we are still learning.
22q is a genetic condition caused by a missing piece of chromosome 22. It can affect many parts of the body and looks different from person to person. You can learn more here.
But I want to share what it looks like to love someone living with it.
Growing Up With 22q
My sister was born with serious heart abnormalities and a missing thymus gland. Growing up meant physical, occupational, and speech therapies, along with extra support at school.
As an adult, she has faced chronic pain, fractures, hearing difficulties, infections, swallowing problems, and multiple surgeries. Sometimes she barely gets through one health issue before another begins.
It is hard to watch someone you love hurt. We want answers. We want relief for her. And sometimes we have to wait without knowing what will help.
Through so much of it, her smile is still radiant and her joy is contagious. That doesn’t make the pain any less real. It reminds me how much someone can be carrying that other people never see.
Still Learning, Still Advocating
One of the hardest parts has been finding care that brings all the pieces together. Different specialists see different concerns, and our family often helps connect the dots.
Care doesn’t end when someone with 22q becomes an adult. Needs can change, and support needs to change with them. These adult care resources can help families and providers understand what to consider.
For my sister, that support reaches into everyday life, too. Managing medications, making decisions, and working toward her goals can require help. New York’s Office for People With Developmental Disabilities (OPWDD) has been an important resource for our family.
We want her to have the support she needs and a voice in the decisions that affect her. Both matter.
Loving Her as a Family
My parents have carried so much of my sister’s daily care. My other sister and I do what we can while raising our own families. We work together, but there are times when it feels like there is more to do than any of us can manage.
There are appointments, questions, and concerns to follow up on. There is also the ache of wishing we could make things easier for her.
Our faith gives us somewhere to bring that ache. We pray for answers, for strength, and for the people caring for her. Then we take the next step.
What Awareness Can Look Like
I share this because families like ours need understanding and support beyond the appointment room.
Check in after the visit. Offer a meal or practical help. Listen when someone says they’re tired. Keep inviting and including the person whose needs make getting together more complicated.
And take the time to know them.
My sister has lived through more than many people realize. I want people to understand those challenges, but I also want them to know the person our family loves so much.
She is my sister, a gift from God, and someone worth knowing.
If one part suffers, every part suffers with it; if one part is honored, every part rejoices with it. 1 Corinthians 12:26
