Stories about: 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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First a birthmark, then a rare-disease diagnosis

Brielle, who has Sturge-Weber syndrome, peers over a wooden fence as she plays outside
Brielle plays near her home in Rhode Island.

Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends.

“We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather.

Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish color. Port-wine birthmarks can be present on otherwise healthy babies. But Heather and her husband, Justin, quickly learned that this type of birthmark can alternatively be symptomatic of a worrisome underlying condition.

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Superheros, specialists and sidekicks

service dogSporting a Superman sock on her left foot and Batman on her right, Bella Burton, a 12-year-old from Woburn, Massachusetts, listens intently to her orthopedic surgeon Dr. Lawrence Karlin. Lots of people mix up their socks, he tells her. “You should really stand out from the crowd. Wear unmatched shoes.”

She chuckles and pretends to ponder his advice. Ultimately, Bella decides against Karlin’s fashion tips.

The exchange is typical of Bella and Karlin, says her mother Rachel.

The pair first met in 2007 at the Boston Children’s Hospital Orthopedic Center when Bella was just a toddler. Genetic experts suspected Bella had Morquio syndrome, a rare birth defect whose symptoms include abnormal bone and spine development and possible heart and vision problems.

As Bella underwent genetic testing, Rachel and her husband Ed faced a flutter of uncertainty. “We were so new to Boston Children’s, and Bella’s diagnosis wasn’t confirmed.”

Genetic testing confirmed Bella did have Morquio, which meant she needed a slew of additional specialists — in clinical genetics, pulmonology, cardiology, neurology and more.

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Gorham-Stout disease: 12 years, two patients and one innovation

Dan and Alex, a few weeks after Alex's surgery
Dan and Alex, a few weeks after Alex’s surgery for Gorham-Stout disease (Photo Susanne Malloy)

On a snowy Saturday in January, two mothers sat sipping tea and conversing about their sons. It was an ordinary scene, but the women’s conversation was far from ordinary.
The scariest thing a doctor can tell you is ‘I don’t know. I’ve never seen this before.’ To find two doctors who treated this before and then to see Dan doing so well is tremendously gratifying. ~ Susanne Malloy

Susanne’s son Alexander Malloy, 14, had been recently diagnosed with Gorham-Stout disease. Gorham-Stout, also referred to as “vanishing-bone” disease, triggers a process that destroys bones and typically affects a single area like the shoulder, jaw hip, rib or spine.

“It was shocking,” recalls Susanne. An MRI earlier that week, prompted by a worsening of her son’s mild scoliosis, had shown Alex was missing bones in his spine and likely had Gorham-Stout.

After the MRI, Alex’s orthopedic surgeon, Dr. Lawrence Karlin, reassured Susanne and her husband Tom that Boston Children’s Hospital would have a plan for their son.

As Susanne and Tom digested the diagnosis, she began thinking Gorham-Stout, a rare bone disease of the lymphatic system reported in about 300 patients, sounded familiar. “I can’t have heard of it before,” she told herself.

The feeling persisted, so she called a friend, who said, “That sounds like Dan Ventresca.”

Twelve years earlier, Dan, who lived a few streets away from the Malloys in Hingham, Massachusetts, had been diagnosed with the same disease. Like Alex, Dan’s disease was located in his spine. Susanne’s friend called Dan’s mother.

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