Stories about: living with rare disease

What can I do if there is no approved treatment for my child’s rare disease?

Just one tough question of many asked — and answered — during a social media Q+A held in observation of this year’s Rare Disease Day on February 28. Rare disease specialists, patients and advocates from across the country took to Twitter to offer their firsthand advice for dealing with a newly-diagnosed (or undiagnosable) rare disease. 

If your or your child’s rare disease does not yet have a treatment option, you can get involved in natural history research…

Over Twitter, our story headline and other questions were posed by the National Organization for Rare Disorders (NORD) and The Mighty, a digital health community that empowers and connects people who are facing disease or disability. Dr. Phillip Pearl, who directs Epilepsy and Clinical Neurophysiology and studies inherited metabolic epilepsies at Boston Children’s Hospital, offered his recommendations through a series of tweets from the @BostonChildrens Twitter account.

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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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