Do I have the strength to be a marathon parent?

by Boston Children's Hospital staff on May 31, 2012

Riley

Riley Cerabona is a Boston Children’s Hospital patient with a rare vascular anomaly syndrome called CLOVES Syndrome (Congenital, Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies) that creates “lumps and bumps” on the inside and outside of her body. Boston Public Radio, WBUR, recently covered her story in great detail.

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.

Riley receives treatment at Boston Children's

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.

I became a marathon parent early, before my daughter Riley was even born. At 18 weeks gestation, she was diagnosed with a lymphatic malformation in her chest and armpit. Our doctor had no experience with this type of vascular anomaly, so we did some research to find the person who could best help our baby. The search led us to Dr. Steven Fishman at Boston Children’s Vascular Anomalies Center.

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.

Riley with members of her care team (Ed Smith, MD and Steven Fishman, MD)

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.

Even though I am not naturally built to be a marathon parent I have learned a lot from my life with Riley, which I wanted to share with other marathon parents.

Educate yourself– We are constantly learning more about CLOVES from Riley’s doctors, other parents and providers. We ask questions, follow-up questions and more questions. If you don’t understand medical terms your doctor uses or you read online, ask someone to explain it differently. I’m a visual learner, so I often ask to see pictures of imaging, or ask Riley’s doctors to draw pictures for me, which really helps me understand specific concepts or issues.

Riley gets a special visit from Boston Children's therapy dog, Burt

Educate others- Trying to explain what CLOVES is tough because it’s so complex. Sitting down and creating an actual description of the disease can keep you from having to always repeat yourself. Depending on your child’s age, it may help to make a kid-friendly version of your description for your child to share with classmates. Help her find words or pictures she understands and can be used to describe the condition. Riley talks about the “lumps and bumps” that CLOVES has created on her body, making it easier for her friends to understand what she’s going through.

Here is a resource we created to help explain CLOVES.

Celebrate often–In our family we try really hard to find the positive in everyday life, even when it’s challenging. It’s important for our mental well-being, but it also teaches our children resilience. And when there’s not a medical or personal achievement to celebrate, we make one up, like beach trips on warm winter days, or throwing an ice cream party for breakfast, just for fun. Sometimes there isn’t an obvious silver lining to cling to, so you have to try and create your own.

Don’t forget to care for yourself—Raising a medically fragile child means you have a lot less time to spend on yourself. Staying on top of Riley’s medical needs is hard, and I often look tired or get a little flustered. But to really care for her, I need to be rested and feel good about myself, which is why I try to make time for things like sleep, a hot bath, getting some sun, reading and other non-CLOVES related activities.

Riley and her brother Cole

Connect with others—Building an online community for CLOVES families has allowed them to interact with others facing the same challenges, share information and offer support. Because of those connections Riley went from feeling like the only girl in the world with CLOVES to having several friends with the condition. What’s more, because of our CLOVES Syndrome Community connections, Boston Children’s researchers recently found new participants to take part in studies they are doing on the condition, which could benefit us all one day.

What the future holds for Riley and our family is anyone’s guess. What we do know is that we will continue to find joy in our time together, focus on the positive and continue to parent our daughter, who just so happens to have a rare disease. CLOVES syndrome is a big part of her life, but it doesn’t define her. She’s so much more than a medical condition.

The name Riley means “courage” and she certainly has lived up to the name. She’s one of the strongest, bravest, most resilient people I’ve met. I may be a marathon parent, but it’s only so I can keep up with my amazing marathon child.

Check back next week when Kristen blogs again, this time on how she thinks Boston Children’s recent discovery of the genetic cause of CLOVES will impact her and Riley’s life going forward.

For more on how research being done at Boston Children’s is changing the face of rare diseases like CLOVES, check out these fascinating blogs from Vector, Boston Children’s science and innovation blog:

Rare diseases are not rare and treatment is coming

Seeking CLARITY: Genomics sleuths set out for the prize

Can Pharma save its business model by thinking small?

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