Category: Schwartz-Jampel syndrome

An extremely rare genetic neuromuscular disorder, with the hallmarks of myotonia, respiratory problems, skeletal dysplasia, and dislocated lenses.

Someone Like You

Jealous isn’t the right word; neither is envy–because no one should feel jealous or envious of people affected by rare genetic diseases. But I’ve always felt a longing for the kind of community that some of my friends in this rare genetic disease world have. Even people with rare diseases can find others who have […]

A Tale of Two Agencies

On Ben’s birthday last week, a birthday he shares with Harry Potter (July 31), he should have received his letter via owl inviting him to join Hogwarts School of Witchcraft and Wizardry in the fall. Instead, he received a barrage of snail mail from the Office of Medicaid (aka MassHealth) from the Executive Office of […]

Summer Internal Drive

Summer. Many people think beaches, day and sleep away camps, fun in the sun, freedom and independence. This is true for Lucy and Charlotte. But when I think of “Ben” and “summer” in the same sentence, I literally sweat. I think about the availability of beach wheelchairs, and camps that provide the right mix of […]

You’ve Been My Shelter

Life has become so normal so fast. A week ago, Dr. Emans said that the outcome from Ben’s surgery was “phenomenal”. Ben no longer needs me, or anyone else, on a minute-by-minute or even hourly basis. So, I’m back to traveling, for work and sometimes for fun. But let me tell you about the first […]

Ben’s Road Traveled

Two roads diverged in a wood, and I, I took the one less traveled by, And that has made all the difference. –Robert Frost It’s been 18 days since Ben’s surgery at Boston Children’s Hospital, which involved attaching titanium rods to his T1 and T12 vertebrae to create tension to straighten his thoracic spine. By […]


Ben hasn’t had surgery since November 2011—almost 1.5 years ago. 2012 was a surgery free year! But on April 4, 2013, that will all change, when Ben undergoes insertion of growing rods along his entire spine to help address his severe scoliosis resulting from Schwartz-Jampel syndrome. Over the last 10 years, Ben has been cared […]

Red Carpet Reception

He wore stripes, just like many Dr. Seuss characters, but was missing a great big hat. But that didn’t stop a standing ovation from the Sprague School community, as Ben wheeled his walker down the red carpet Friday morning to accept the “Hats off to Reading” award at Sprague’s 6th annual A-CAT-emy Awards–the reading and […]

Iceland Pre-Op Adventure

Ben is scheduled for spinal fusion surgery on April 4. We’ve known this was going to happen since last August, but willingly blocked it out of our minds until this year. Since January, however, we’ve had to face reality: we’ve had school and therapist meetings to prepare for Ben’s 6 weeks away from school, we’ve […]

Goodbye Gabriel

He loved the show Yo Gabba Gabba and his older brother Andre. He smiled and laughed all the time, even through many episodes of pain. He was his mother’s joy and love, and she fought so, so hard to get him all the care he needed. And he said his goodbye to his family and […]

A New Year’s Gift

Massachusetts is a special state (nay, Commonwealth!), which has more comprehensive programs for helping children with medical complications than many other states. For that reason, I always tell Sherin we are never moving. A job in NY or London? Fine–but that’s a long commute for you! Still, no state or commonwealth is perfect, and one […]