I am passionate about helping others who struggle with 22q, here is why!
22q11.2 deletion, VCFS syndrome and DiGeorge syndrome is a disorder with many names and caused by a small missing piece of the 22nd chromosome. Depending on where the location of the deletion is on the tiny missing portion of chromosome, 22q can affect every system in the human body, and can be the cause of nearly 200 mild to serious health and developmental issues in children AND ADULTS. I use the adults in all caps because every foundation associated with this syndrome only focuses on raising awareness for children.
Although that’s great for parents like me who have children with 22q, it’s difficult for adults like me who have 22q to find support. No two people with this disorder have all of the same symptoms as the next person. It can affect young and old. Testing for this in children as well as the other members of their families is needed to get treatment for the symptoms.
There is no cure. We can only treat the symptoms. I am passionate about this because when I was first diagnosed, it was my breaking point. I reached rock bottom and had such a hard time accepting the disorder because I didn’t have any outward symptoms that are typical with the disorder and I have no heart issues.
As you can imagine, finding resources and trying to discover how this disorder affects me as an adult is challenging, and can leave a person feeling overwhelmed during the diagnoses process. It’s the number one reason most adults who do have children with 22q don’t get tested themselves. What’s the point if there isn’t support out there for us adults who have it?
I was lucky enough to connect with other adults online, but the online support is just that—online and not in real life. Sure we talk on the phone, but to be able to see the person in the flesh would be easier to help each other understand what’s going on with one another. I don’t wish for anyone to have to endure the process of this alone and isolated like I did.
My goal is to change that balance between adults who have special needs vs. parents who have children with special needs but don’t have the disorder themselves. I want to help parents have compassion and support for their children and the adults because one day their child will grow up into adult hood. Despite what popular media says, 22q is not always a death sentence.
My other goal is to offer hope and help encourage someone else going through the same struggles. I also hope to find support myself as a mom and adult with 22q one day. One of my most recent goals is to make congress aware of struggles families with rare disorders face, in order to help keep the services that are needed. Services such as new born screenings and parental screenings of 22q11.2 deletion because there is a huge wave of groups out there trying to prevent 22q babies from even being born. Could you imigine life with out Bella and I ?
I hope to connect with others who have children with this disorder and together help focus on issues that are effecting not only children but adults who also have 22q.
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