A grandmother of a child with Koolen-De Vries syndrome describe her family's experience with this very rare condition and the significant impact one child with a rare disease can have on the entire family.
Koolen De Vries syndrome is a genetic disorder that can have a diverse set of symptoms but often involves developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral problems. Heart, kidney and skeletal abnormalities may also be present.
Well it caused in my son’s family, he's the father of Malcolm, it caused his wife to not be able to work because of the immune issues – any time they took him to a daycare – he would get really sick. And so she's not working for their income dropped dramatically because she was the major wage earner.
So my son now has two jobs and he's trying to get his master's so that he can better the family and also work in advocacy for rare diseases.
As an example of how this affects their life — I just asked him what he wanted for his 34th birthday me said a nap and a day off before August because his first day off will be in August.
It's really heartbreaking as a mother and a grandmother to see the burdens on my son and how exhausted he is and not really be able to do much to help.
One of the things I did, because I was wearing a hole in our wooden floor from pacing back and forth before Malcolm got a diagnosis, was to try to do something for the local community. They're not in the same town I live in so I started a rare disease awareness events in Chapel Hill the last two years and I probably will do it next year as well. It was very successful. It brought together some support groups for rare diseases. W e videotaped different organizations so they could tell their stories. We had UNC's genetic department there. Duke's undiagnosed network was there and they brought two patients who've gone through their program and wanted to tell their story.
If we could bring more support to this community and more awareness that will help enormously because sometimes it just feels like you're so alone and you don't know where to turn. And sometimes feels like you are taking steps backwards. It's getting bad news and it is having to pick yourself up again and knock on a different door to get a diagnosis. In my children's case they live rurally, so any time they go to a doctor it's over 100 miles and you feel very alone.
So today's work is really important. Social medias are for bringing people together.