Our patients’ stories: Why research matters to our family

Kristen and Riley

By Kristen Davis, the mother of a child with an extremely rare condition called CLOVES syndrome. Boston Children’s Hospital researchers recently discovered the genetic cause of CLOVES, which could pave the way for future treatment. See more of Kristen’s writing in a blog where she describes what it’s like raising a child with an extremely rare medical condition. To learn more about CLOVES and Boston Children’s breakthrough discovery, please visit Vector, Boston Children’s science and innovation blog.

What an amazing few days it has been. Boston Children’s Hospital recently announced that they have discovered the genetic cause for CLOVES, a rare vascular anomaly syndrome that my daughter Riley is currently living with. Because this is a significant discovery in the medical world, and there are only a handful of American families dealing with CLOVES, I’ve been interviewed a few times about my response to the news. It’s very exciting but I’ve struggled to explain the enormity of what I’m feeling. For the first time in years we are hopeful for the future, but the emotions are deeper than that. Boston Children’s has been involved in Riley’s care since she was an infant, and is like our second home, so to arrive at the point of discovery together is very special.

Riley has received comprehensive medical care through the Vascular Anomalies Center at Boston Children’s since she was 5 weeks old. We made the decision to move her care to Boston—two hours away from our home—because after our initial meeting with the team we were impressed by their knowledge of rare conditions.

But as her disease progressed and her medical needs became more significant we started having consistent communication with the VAC team that developed into a long-term, collaborative relationship. They’ve heard our thoughts and concerns and have responded to them all. They’ve seen our tears and listened to our worries. They show us everyday – in their responsiveness, compassion and support – that helping Riley is their one and only goal.

That attention to detail isn’t limited to clinical care. When we’re at the hospital one of Riley’s doctors is bound to stop by and say, “Wow, Ri you’ve gotten so tall” or “Riley, what’s new?” and enter the room for a high five. She has one doctor who tells her really silly jokes (which Riley loves) and has also successfully operated on her spine four times (which we love).

Riley is an avid reader

Despite all the support, life with a rare disease is hard. When Riley was born, doctors weren’t sure what was causing the bumps and malformations on and inside her body. In 2006 researchers from Boston Children’s discovered CLOVES Syndrome, which led to a concrete diagnosis for Riley. We were excited to know what we were up against, but a permanent treatment plan was still nowhere in sight.

Then, in 2011, we heard that Mathew Warman, MD, a clinical geneticist at Boston Children’s, was interested in researching CLOVES. We made arrangements to have Dr. Warman and his colleague, Dr. Kyle Kurek, come to our first annual CLOVES Family Conference in March of 2011. There Dr. Warman presented his hypothesis behind the biology of CLOVES to the largest gathering of CLOVES families ever, and asked for our help to study the condition. Many of us signed consent forms and gave saliva samples, which eventually led to better understanding of what causes CLOVES. We are so fortunate to be able to collaborate with the researchers who have access this “next generation” technology, and are hopeful about how this innovative finding will positively impact other sporadically occurring diseases.

Access to that level of scientific expertise is amazing, and I am forever grateful that the same hospital that treats my daughter is also researching her disease. From the medical labs to the bedside, Riley’s care is 100 percent in the hands of the experts at Boston Children’s. But that team never loses sight of the fact that Riley is whole person, not a series of symptoms. Riley loves to read, play, dance and sing, like lots of other kids. It’s nice to know the doctors researching her condition and those treating her in the hospital are doing everything they can to make sure she’s well enough to enjoy those things for years to come.