Stories about: rare disease

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.

Read Full Story

Mother’s Day gifts

rare-diseaseMother’s Day 2010: I watch as my mother unwraps the first of her presents. It is pair of pretty handmade slippers. She is pleased. I am anxious, though. As I watch her sweetly looking over the slippers, I try to resist the urge to push the next package toward her and demand she open it immediately.

I quite literally sit on my hands to keep myself in check.

When she finally unwraps the second package, I watch the confusion on her face as it settles into a hopeful realization. She holds up the tiny little slippers and asks, “Are you?” I smile and nod, tears welling up in my eyes, “It is really early mom, but we wanted you to know … Happy Mother’s Day!”

I am four weeks pregnant, expecting my first child, my mother’s first grandchild. I can already imagine what it will feel like, one year later, celebrating my first Mother’s Day. Mom and I will sit under the big umbrella our faces and arms in the shade, our feet in the sun. We’ll pass the baby back and forth, laughing and talking about this baby’s future. We’ll walk around mom’s gardens and admire the flowers. We’ll already be a little clan: mom, me and my baby girl — she will be a girl, I just know it.

I am right. The little tiny bundle of cells and joy growing inside me is a little girl, just as I imagined.

But, also, she is already unbelievably different than I ever could have imagined.

Mother’s Day 2011: I glance over my sleeping three-month-old daughter Esmé. I take her in completely — her full head of dark hair, her pouty lips, her dimpled hands. For a moment I swim in the calm of watching her little chest rising and falling rhythmically — in and out, in and out.

After a beat, I snap to, scanning the lines running from her, glancing over the IV, oxygen and monitors. I have the same thought I have had every morning for the last week: She made it through another night.

Read Full Story

Blur: Inside my life as the parent of a child with a rare disease

rare disease
Hillary holds Esmé at their home in New York-Tracey Buyce Photography

Looking through the photos I took of my daughter this morning — her in her pajamas leaning back against my thighs, my bare feet in the tangle of blankets in the background — I remember there are so many things about being a mother that are exactly as I imagined: The awe I feel when I look at my daughter, Esmé. The love I sense when I stare into her beautiful deep blue eyes. The pride that blossoms when I sink my fingers into her unruly curls, claiming her as my very own.

The feeling that I have never, ever belonged to another person as I belong to Esmé.

But there is something else there as well. It is present in each of the photos from this morning: The blurs created by her hands as they flap in the air, by her head as she shakes it back and forth, by her legs as she rhythmically pounds her heels to a beat only she understands.

These blurs are the contrails of her stereotypies, her choreoathetoid movement disorder, her flailing attempts at communication. They are the intangible made visible, photographic reminders that being Esmé’s mother is also nothing at all like I expected. They are the evidence of the blur I struggle to articulate: how the fear and pain associated with my daughter’s rare diseases can co-exist with the tremendous gifts that have come out of her conditions.

Read Full Story

For the love of Sharieff: A father dedicates his life to his son’s complex medical care

Photos by Katherine C. Cohen 

SharieffDadBench

On an unseasonably warm day in February, the sun shines brightly at Clasky Common Park, a New Bedford town gem with views of the river. Twenty-one-year old Sharieff Hester sports a pair of cherry-red shades and a big smile. He walks confidently around the park, his father and sole caretaker David Hester dutifully following behind, checking in often. “Are you cold son?” he asks. Sharieff answers through his tracheostomy, “I’m fine, Dad.”

David stops to adjust his son’s scarf and offer him a sip of water. “We have a routine every morning. The first thing I do is hug Sharieff and tell him how much I love him. Then I make sure his trach is clean and dry, and we say a prayer together.”
SharieffTrach

Sharieff has been cared for at Boston Children’s Hospital since his birth in 1994. His main diagnoses are Arthrogryposis, a rare congenital condition characterized by stiff joints and abnormally developed muscles; Klippel-Feil syndrome, a rare birth defect that causes some of the neck vertebrae to fuse together; restrictive lung disease; and pulmonary hypertension.

Read Full Story