Nate Guidry/Post-Gazette

As spina bifida patients become adults, their needs and care are changing

By JILL DALY, Pittsburgh Post-Gazette

Services for adults with spina bifida are ramping up as people live longer with the condition they were born with. New guidelines that incorporate the latest research and treatments are now being distributed to health care providers to help their patients.

Taking a leadership role in the guidelines’ development was Brad Dicianno, director of the Adult Spina Bifida Clinic at UPMC Mercy.

“People used to think it was just a pediatric condition,” he said. “In reality people didn’t live very long. Now there’s better medical, surgical and rehabilitative care. Now we have patients in their eighth decade. The guidelines now take a lifespan approach, from newborns all the way to adults.”

The guidelines were last updated in 2006, Dr. Dicianno said.

“There were problems. A lot of clinicians and other healthcare professionals don’t understand the condition of spina bifida very well at all. There are barriers to care, especially for adults with this condition.”

Babies with spina bifida are born with a malformation of the spinal cord and bones of the spine. The extent of the disability ranges from mild to severe and depends on the type, size or location of the defect and complications. All nerves below the malformation are affected to some degree. Surgery can be done, but it can’t fix everything.

The Spina Bifida Association guidelines cover care coordination, prenatal counseling and transition to adult care, and go on to include mental health, quality of life, neurosurgery, sexual health, bowel function, puberty and nutrition. There’s also advice on early intervention services and individualized education programs and 504 plans to ensure instruction and accommodation will suit the individual student.

One of the advances in treating newborns, Dr. Dicianno said, was the invention of shunts that drain fluid causing increased pressure on the brain, called hydrocephalus.

“The most severe kind of spina bifida [is treated with] shunts. That prolonged a lot of lives,” he said.

Improvements in prenatal care include doses of folic acid to help prevent neural tube defects. Risk factors include spina bifida in the mother and a child being born early.

Developments in urological care help patients with issues related to the condition of their spinal cord.

“Many patients used to have kidney failure,” he said, adding that complications are fewer with better management, although patients still have neurological and urological issues.

At the Adult Spina Bifida Clinic at UPMC Mercy, patients can get kidney screenings, MRI and CT scans, ultrasounds and x-rays. Treatment is available from doctors who help with coordinating care, nurses who specialize in spinal cord conditions and dietitians and orthotists.

Working together in the adult clinic on Tuesdays are personal trainer Daniel McCoy, 24, of the South Side and research associate Sara Izzo, 33, of Ross. They both bring their professional skills to the clinic as well as their personal experiences as adults with spina bifida.

Nate Guidry/Post-Gazette
Nate Guidry/Post-Gazette

Mr. McCoy graduated last year from the University of Pittsburgh with a degree in communications and is now pursuing a master’s in personal training. He draws on his experience in adaptive sports and years of public speaking as an international athlete. Patients in the clinic may not realize that the trainer designing their workout programs has a gold medal for sled hockey from the 2014 Sochi Paralympics.

He said he encourages patients to live healthy lifestyles. “Ultimately I’d like to be a strength and conditioning coach for people with disabilities and others.”

From a young age, Mr. McCoy had physical therapy and occupational therapy and he’s always participated in sports, trying sled hockey when he was about 5. “It’s about clearing a path into things you can do,” he said.

When he was young, he said, he used a walker and leg braces. He still uses the braces and sometimes crutches, but now he’s transitioning into using knee, ankle and foot orthotics, with a wheelchair for long distances.

“At a pretty young age, my parents taught me to take care of myself,” he said.

Traveling and training with the junior national sled hockey team gave him experience that paid off when they headed to Sochi, Russia. Other young adults with spina bifida would benefit from similar treatment, he said.

“Family members can give more responsibility to the person with a disability,” he said.

Talking with patients helps him as well. “A lot of ways I learned to navigate comes from the patients I work with.”

His patients don’t have to be involved in sports or exercise, but he encourages a positive mindset.

“What I try to instill in individuals with spina bifida is everybody started somewhere,” he said. “You just happen to be still developing. You’re at the ground level.”

To address gaps in care for spina bifida patients, data for research is collected by the National Spina Bifida Patient Registry at the .

Ms. Izzo started with the clinic at UPMC Mercy collecting data for the CDC registry. Now she advises patients on skin care and other issues. She also helps patients with financial assistance and finding assistive materials they need for daily living and living in the community.

She has more function than others with spina bifida, she explained. She doesn’t need braces to walk, but she does have foot issues and has had spinal surgeries that complicated her development, affecting her height.

“There are things that aren’t immediately perceived. It’s like walking around with a secret,” she said. “I have scars I don’t always share.”

She has one condition, a tethered spinal cord, that can occur in patients with more severe spina bifida. Symptoms can develop over time in adults, causing changes in the feet.

Even with longer life spans, this year the clinic has lost a few patients who died from preventable complications, Ms. Izzo said, and she hopes to help others avoid them.

She thinks helping a child transition to adult care starts early, as soon as they can answer simple questions about how they’re feeling.

“It’s important to get that dialogue so they know what is happening to them,” she said.

She said her parents helped her by encouraging her in gymnastics as a girl. “Their motto was: If you don’t use it, you’ll lose it.”

However, they didn’t push independence. She said her first time away from her parents was when she was about 16, traveling with a church youth group to Chicago.

“It was an experience that I enjoyed and needed. It was also a moment in my life that my parents saw me differently as well. … It was an ‘aha’ moment for all of us.”

Ms. Izzo’s research job is in Pitt’s Human Engineering Research Laboratories and she plans to go back to school to study clinical psychology.

She’s gone from working as an informal peer support mentor in the spina bifida clinic to being a trained peer support manager. She’s a member of a steering committee, also affiliated with Dr. Dicianno, for a project to study research related to the prevention of medical complications for people with spinal cord injuries. Out of that came the idea of formalizing peer support and adapting that for spina bifida patients.

Ms. Izzo and Mr. McCoy said they benefit from the information and emotional support they share as they work in the clinic, along with volunteer Ray Sestili, who also has spina bifida.

Mr. Sestili helps Ms. Izzo with her research project paperwork and escorts patients to testing locations in the hospital.

“This interaction extends the patients’ exposure to other adults who have spina bifida and encourages those to see beyond the limitations that one might have experienced in their life,” Ms. Izzo said.

To contact the Adult Spina Bifida Clinic at UPMC Mercy, call 412-232-8903. 

Allegheny Health Network offers care to adult spina bifida patients at the AHN Adult Hydrocephalus Center at Allegheny General Hospital. Neurosurgeon Jody Leonardo is director of the center, where a multidisciplinary team of specialists provides diagnosis and minimally invasive treatment of hydrocephalus. Information: 412-359-6010. 

Specialized care for adult spinal deformity is available at the AHN Adult Spinal Deformity Center at Forbes Hospital, led by neurosurgeon Kevin Walsh. Call 412-858-7766.