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. …
Boston Children’s researchers have just made a discovery that could one day help Riley and patients like her. By studying the DNA of CLOVES patients, Boston Children’s doctors have pinpointed the genetic cause of CLOVES, just one year after their research project began—and only a few years after first identifying the syndrome. The discovery opens doors to targeted treatment of the condition and to further understanding of other, similar disorders.
In the following blog, Riley’s mother Kristen talks about what’s it’s like to raise a child with such a rare medical condition.
Becoming a parent is an act of love and faith that no amount of planning can ever really prepare you for. And once you begin raising your child, the changes you go through as a person are profound. Raising a child with a rare disease is even more life altering.
You experience all the love, hope and joy, but it’s mixed with almost constant anxiety, stress and strained financial budgets. It requires focus, discipline and intense endurance, but it’s also rewarding and empowering. That’s why I call it marathon parenting.
Marathon parenting can be hard to adjust to. (I always saw myself as more of a short-distance walker.) But sometimes life throws you into a race without giving you time to train; you just need to rise to the challenge.
Under the care of Dr. Fishman and his amazing team, Riley had the malformation and overgrowth removed at just 3 months old. Unfortunately the lesions continued to grow in and on the outside of her body. The Vascular Anomalies Center team did a great job caring for Riley, but weren’t fully sure what was causing the new malformations. (CLOVES was so rare it hadn’t been identified by doctors yet.) As she grew she needed more surgeries and medical interventions. At just 9 years old, Riley has had 16 surgeries, 32 MRIs and countless hospital visits.
By the time Riley was 5, Boston Children’s researchers had identified CLOVES as a specific syndrome, and she was diagnosed with it. It’s a progressive and very rare condition, affecting less than 100 people worldwide. Once Riley had a diagnosis I immediately starting searching for other people who were living with CLOVES so I could figure out what to expect. My searches turned up a few articles in medical journal articles, but little else. What I really wanted was to connect with other families dealing with what we were, but there were none.
It was disheartening, but as I was learning, marathon parents can’t let hurdles ruin their race. I began collecting and sharing information and stories about our lives online, and soon other CLOVES families joined us. Since launching in 2009, our CLOVES Syndrome Community has grown by leaps and bounds. …
On September 21-22 The U.S. Department of Education will host the second annual Federal Partners in Bullying Prevention Summit in Washington, D.C. This year’s goals are to engage government and nongovernmental partners to help identify the best ways to reduce bullying. In the following post, a Children’s patient discusses how she was bullied because of her medical condition and shares how her parents and medical team helped her deal with the situation.
By Kelly Rock
Growing up with an identical twin, you can expect a lot of comparisons to your sibling. But for my identical twin sister Megan and I the experience was slightly different. Instead of always hearing, “you guys look so alike,” we heard plenty of comments like, “why doesn’t Kelly look more like Megan?”
I was born with a rare facial deformity called Hypertelorbitism, which basically means I was born with my eyes being far apart and a nose that developed differently. Being born with Hypertelorbatism presented me with a good deal of challenges growing up. At 19 I’ve already undergone 8 surgeries at Children’s Hospital Boston and am scheduled for another one soon. At times I feel like I grew up in the operating room, and there were plenty of times where I wished I could’ve been outside playing with my friends instead of being in a hospital bed attached to IV’s, wires, and drinking all kinds of nasty tasting medicines to ward off infection. But through it all I knew that all the medical attention was best for me. I also knew that my plastic surgeon, John B. Mulliken, MD, director of Children’s of Craniofacial Anomalies Program, would do everything in his power to make me look my very best, even if that meant spending fourteen hours on one surgery. (I underwent that one when I was just 9 years old.)
Growing up, my family and medical team at Children’s were always very supportive in helping me overcome the challenges of Hypertelorbitism, but I can’t say the same about other kids my age. I used to be made fun of on a daily basis because of how I looked. I remember going to camp and having kids laugh and exclude me, or try to make me feel alienated just because I looked different. To this day I vividly remember a day in third grade, when I tried to play hopscotch with some of my classmates but they just turned their backs to and said I couldn’t play. …
Our daughter Casey was born on August 13, 1996, weighing 8 pounds and 13 .5 ounces and measuring 22 inches long. It was a smooth delivery, but soon after birth the doctors noticed “something different” about her. In an instant, what was supposed to be a joyous occasion turned into a dark, scary moment.
It was soon discovered that Casey had unilateral craniosynostosis, a condition in which the fibrous joints between the plates of the skull fuse too early during a development. From that day forward I was told I would need to get used to having a daughter with disabilities and limitations. People said I should prepare myself for disappointment and that mothering a “different” child was no walk in the park. I was shocked, confused and scared. My baby had a birth defect that I had never heard of. I spent many nights wondering why this happened and what was I supposed to do?
It’s been hard, but we haven’t had to do it alone. Since she was born Casey has had many doctors, but her two favorites are the one’s at Children’s Hospital Boston. Over the years Dr. Mulliken, co-director of Children’s Vascular Anomalies Center and Dr. Mark Proctor, her neurosurgeon, have been great sources of support for our family. Without their help I can’t imagine where Casey would be today. …