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 | Leave a Comment

Stem cells and birth defects: Could gastroschisis be treated in utero?

stem-cells-gastroschisis
Although Gianna was treated surgically, Dario Fauza, MD, hopes to someday use stem cells from the amniotic fluid, multiplied and returned to the womb, to naturally heal gastroschisis and other birth defects. (Courtesy Danielle DeCarlo)

Six-year-old Gianna DiCarlo is an active dancer and gymnast. Though she’s a healthy eater now, Gianna’s stomach bears a long scar, a remnant of three surgeries she underwent as an infant. She was born with gastroschisis, a striking birth defect in which the abdominal wall doesn’t seal fully during fetal development. As a result, her intestines developed outside her body. She was fed through an IV for several weeks and was stitched fully shut at age 2.

Today, Gianna occasionally dons a two-piece bathing suit to spread awareness about her condition. Meanwhile, researchers at Boston Children’s Hospital have isolated stem cells from amniotic fluid, aiming to use them to treat birth defects like gastroschisis.

Read more about Gianna and this research on our sister blog Vector.

Read Full Story | Leave a Comment

Experience Journal: Growing up with hearing loss

baseball_shutterstock v2__109556990In the U.S., roughly two to three out of every 1,000 children are born deaf or hard of hearing. This may launch families into unfamiliar territory as more than 90 percent of parents of deaf and hard of hearing children are not deaf or hard of hearing.

Some parents may have never met a deaf or hard of hearing person. As they begin the journey of raising their child, they may feel unfamiliar with the effects of hearing loss on acquiring language, communicating effectively with others, achieving academically and developing positive self images. There are a number of informed perspectives, resources, interventions, medical treatments and assistive technologies that can help children with hearing loss lead successful and fulfilling lives.

exprience-journal-logo-5

The Hearing Loss Experience Journal, created by the Boston Children’s Hospital Deaf and Hard of Hearing Program and the Department of Psychiatry, includes stories and experiences from children, young adults and families and represents the collective wisdom of families living with pediatric hearing loss. Here are some of their stories about growing up with hearing loss, using hearing aids and cochlear implants and more, in their own words.

Read Full Story | Leave a Comment

An energy boost to the heart: Infant’s own mitochondria save her life

infant-congenital-heart-diseaseShe’s small for a six-month-old, but otherwise Avery Gagnon looks perfectly healthy. She smiles, kicks, laughs and grabs her toys and pacifiers. What you’d never know is that Avery has complex congenital heart disease and might not be alive today if it weren’t for an innovative procedure that used mitochondria from her own cells to boost her heart’s energy.

The procedure is the brainchild of James McCully, PhD, a cardiovascular research scientist at the Heart Center at Boston Children’s Hospital who spent most of his career working to solve a common complication of heart surgery: damage to heart muscle cells.

During certain types of heart surgery, the tissues are temporarily cut off from the body’s oxygenated blood supply. Even after oxygen supply is restored, the heart may remain stunned. The mitochondria within heart cells become dysfunctional and are unable to provide enough energy for the heart muscle to pump as strongly as it should.

Large amounts of damaged mitochondria can be especially challenging for the youngest and frailest cardiac surgery patients: infants with congenital heart disease, like Avery.

Read more about Avery and the research that saved her on our sister blog, Vector.

Read Full Story | Leave a Comment