Stories about: living with rare disease

Stronger together: Families of girls with SPG47 find support in each other

Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world.

This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47).

“When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.”

The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care.

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Crying to be heard: raising awareness about Cri du Chat

Logan

Shortly before Logan Collins was born, a prenatal ultrasound suggested a possible problem with her heart. Her mother, Erika, went into labor the next day, two weeks shy of her due date. Logan was born at just 5 pounds, 5 ounces and had a weak, high-pitched cry that sounded like a cat meowing.

“When I became aware of her birth weight and heard her cry, I had a good idea something was going on, but I didn’t say anything at the time,” Erika says. She suspected Logan had the same disorder as one of her cousins. Chromosomal testing in the Division of Genetics at Boston Children’s Hospital confirmed it: Logan’s fifth chromosome had both a deletion of one piece and a duplication of another. She was diagnosed with Cri du Chat—a rare genetic disorder whose name is French for “cry of the cat.”

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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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