Stories about: rare medical conditions

Hope for children with a rare “aging” disease

Megan Nighbor

Megan Nighbor is one of about 100 children in the world known to have progeria, a genetic disorder that’s caused her to show signs of old age. Children die from this rare disease at an average age of 13 from a heart attack or stroke, and there’s been no treatment.

But in 2007, Megan and 27 other children with progeria from around the world were flown to Boston Children’s Hospital at the expense of the Progeria Research Foundation to enter a first-ever clinical trial. They each received a drug called lonafarnib, under the supervision of principal investigator Mark Kieran, MD, PhD, Director of Pediatric Medical Neuro-Oncology at the Dana-Farber/Children’s Hospital Cancer Center.

The results, just announced yesterday, are exciting. While we don’t yet know the drug’s effect on life expectancy, all the children had some of their aging symptoms reversed: 1 in 3 had a marked improvement in weight gain—or stopped losing weight and started gaining. More than a third had less blood vessel stiffness, a risk factor for strokes and heart attacks. And many had improved bone density and flexibility and better hearing.

The work continues: A second trial, adding two more drugs, is nearly complete, and a third is already planned.

“We want them to be living until they’re 80, having families and dying of true old age,” says Leslie Gordon, MD, PhD, Clinical Trial Co-Chair with the Progeria Research Foundation.

For more information on this exciting breakthrough, read in our sister blog, Vector, about how the original genetic discovery led to a successful clinical trial in just a decade—and what lessons the progeria story may offer about aging in all of us.

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Do I have the strength to be a marathon parent?

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.

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This week on Thrive: March 15 – 19

Here’s a quick look at what Thrive was up to last week.

Children’s Michael Agus, MD kept us updated on his relief work in Haiti. There’s a better genetic test for autism. Children’s CEO, James Mandell, MD, discusses the cost of children’s care. Children’s is featured in two National Geographic documentaries – one on the Shang Dynasty and the other on rare medical conditions. A newborn’s hearing screening should not be ignored. Thrive blogger, Melissa, reports on disaster relief simulation training. Are iPhone apps okay for toddlers? How can kids respond to email chain letters?

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