New research shows a rare genetic disorder may have more serious implications than previously thought. 22q11.2 deletion syndrome is usually associated with heart defects and learning disabilities, but a recent study supports previous findings that it’s closely connected to Parkinson’s disease. Suzie Xie spoke with one New York family affected by the disorder.
XIE: Robin Klein is about to turn 22. The Pace University senior sits on the bed in her dorm room and sifts through a pile of childhood photos with her mother. Jennifer Gensior holds up a picture of her daughter grinning at the camera in Disneyland.
GENSIOR: Robin was just a happy kid. She really was. And if you see some of these pictures — she was silly. She was a silly little girl.
XIE: In the photos, Robin looks like a typical, carefree child who loves wearing her Minnie Mouse dress. But the past two decades have been anything but carefree for her. Robin was born with a genetic disorder called 22q11.2 deletion syndrome. A small part of one of her chromosomes — in this case, chromosome 22 — is missing. And she’s had to deal with a lot of medical issues since birth. First, it was a ventricular septal defect, or a hole in her heart. Then, it was pyloric stenosis, or forceful vomiting that hinders a newborn’s ability to gain weight. And, Robin says, the list goes on.
KLEIN: Then I had a double hernia on my left side, so I had surgery really young, like a few months. I had bad hearing, couldn’t see well. I have also hemifacial microsomia, so half my face is a different size than the other. So when I smile, it’s kind of lopsided.
XIE: Those affected by 22q are more likely to suffer from depression, anxiety and schizophrenia. And a report released last month says the syndrome is closely tied to Parkinson’s disease. For Robin, depression and anxiety have affected her since eighth grade. But she and her family are on the lookout for signs of the other two. She didn’t understand the risks associated with the syndrome for quite a while. And that’s because…
KLEIN: I didn’t know what I had for a lot of years.
XIE: Seventeen, to be exact. Even though Robin had undergone genetic testing as a toddler, her doctors didn’t catch the syndrome. She didn’t find out about her condition until high school. That’s when she did a microarray analysis, a newer kind of genetic test that was more sophisticated than the first one she took.
KLEIN: And I said, “Finally, I have a reason why all this crap is happening to
me.” It’s not my fault. That is the syndrome.
XIE: The National Institute of Health says the syndrome affects an estimated one in 4,000 people, but some experts say it can be easy to misdiagnose the disorder because the symptoms vary. Dr. Bernice Morrow is a professor at the Albert Einstein College of Medicine. She says it isn’t that difficult to catch — if you know what you’re looking for. The problem is that not all doctors are familiar enough with the syndrome to diagnose it. And that can have major implications for those with 22q.
MORROW: Sometimes these patients are not seen by clinical geneticists who really know this syndrome. And they can go on and live most of their lives until they develop schizophrenia and have another problem.
XIE: But diagnosis may not be the biggest challenge. Oftentimes these disorders are incurable. In Robin’s case, a missing piece of her chromosome affects nearly all cells in her body. So she and her doctors have to put out small fires by addressing each individual symptom. And that’s exactly what Robin did. She started attending therapy and taking antidepressants. She asked for extra time on tests to cope with her learning disabilities. Robin was ostracized by her peers, so she now takes social skills classes. Over the past five years, she’s told herself…
KLEIN: You can do whatever you want. Don’t let this stupid syndrome hold you back.
XIE: And it hasn’t. She has learned to advocate for herself, but her mother is most proud of the deep empathy Robin developed over the last two decades.
GENSIOR: I think all of the experiences that she’s had growing up have shaped her to be a person who cares about other people. You know, I hope the world is as kind to her as she is to the world.
XIE: And as Robin enters her 22nd year, the world is just starting to open up. And she may move closer to Disneyland. She plans on heading to California after graduation.
Suzie Xie, Columbia Radio News.