Author: Nancy Fliesler

One mom’s insights: Navigating care for children with behavior differences

autism complex care

Diba Jalalzadeh, now 12, paces energetically around the waiting room. She has been coming to Boston Children’s Hospital since she was a baby. Today she is seeing her developmental medicine specialist, Dr. Carolyn Bridgemohan.

But she’s just one of the many specialists Diba sees at Children’s.“We touch on many departments,” says Monir, Diba’s mother.

Diba was diagnosed with Crouzon syndrome when she was 10 months old. She has had several surgeries to manage the effects of her craniofacial syndrome on her skull, eye muscles, tonsils and adenoids. She currently wears a brace on her chest to counter kyphosis (her shoulders’ tendency to cave in).

Though she’s never gotten really sick, Diba is a complex patient. Unrelated to her syndrome, she also meets criteria for autism spectrum disorder, so procedures most kids will put up with can potentially make her very anxious.

Blood pressure measurement? “She doesn’t enjoy that at all, but she tries to get through it.”

Sleep study? “She had a very hard time sleeping through the night but she managed to sleep a little,” says Monir. “If you ask her to do it again, she says, ‘No I can’t even try it!'”

Eye patching for an exam? “I won’t do it.” (She finally agreed to it at the end of the visit.)

Even measuring Diba’s head circumference can be a challenge.

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Antonio’s story: Detecting shunt failure without surgery or imaging

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Meet Antonio, a 14-year-old who depends on shunts to drain excess fluid in his head. The shunts are prone to failure, and detecting failure and identifying which shunt has failed is a tenuous process that requires high-tech imaging or surgery. That’ s one of the reasons why Antonio and his mother Joanne were happy to participate in a study of ShuntCheck, a device designed to detect shunt failure developed by his neurosurgeon Dr. Joseph Madsen. Read more about Antonio, Madsen and ShuntCheck on our sister blog, Vector.

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

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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.

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A second chance for Bentley and his encephalocele

Bentley Yoder encephaloceleSierra Yoder was having a normal pregnancy, but the 20-week prenatal ultrasound seemed to tell another story. The Yoders learned that their child — a boy to be named Bentley — had something called an encephalocele. Brain tissue was bulging out of an abnormal opening in his skull, unprotected by bone.

“They said he had zero chance of survival — ‘incompatible with life,’ they told us,” recalls Sierra. “I specifically remember asking is there any chance he could survive? They said no, that in the best-case scenario, he’s going to be a vegetable. They made it out like I was going to lose him at any point.”

With that knowledge, the Yoders decided to end the pregnancy. But at the 11th hour, Sierra changed her mind. It didn’t feel right — Bentley was moving and kicking and had a strong heartbeat.

So they kept going.

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