Transforming Moments

Taylor’s Story

A Full Circle of Care

Less than two weeks after their daughter, Taylor’s, first birthday, Visha and Kenny received a phone call confirming what they had been told might be preventing Taylor from sitting, standing and reaching many other physical milestones; she had Spinal Muscular Atrophy Type 2 (SMA2).

A motor neuron disease that affects the voluntary muscles used for activities such as crawling, walking, head and neck control and swallowing, SMA is the number one genetic cause of death in children under age two. With approximately one in 40 people carrying the SMA gene, approximately one in 6,000 babies are affected with the disorder. Patients with SMA are grouped into three pediatric categories based on certain key motor function milestones with Type 1 being the most severe. Taylor was diagnosed as a weak Type 2.

“We were heartbroken when we received the devastating phone call from the neurologist,” Visha wrote on the family’s web site, “but are now trying to work our way through. She is such a sweet, happy and delightful little girl and that makes it a little easier for us to get through each day.”

When Taylor, the second of three girls, was born in August 2005, she appeared perfectly healthy. She rolled over before she was four months old, but soon after, Visha noticed that Taylor couldn’t support weight with her legs and had difficulty sitting up, even with assistance. The family’s pediatrician suspected that Taylor, like her older sister Brooke, had low muscle tone but would reach those milestones eventually. When Taylor still wasn’t sitting up at eight months, the doctor suggested a physical therapy evaluation at Children’s Hospital’s South Therapy Center.

“The physical therapist said she was performing like a 4-month-old in regard to physical capabilities,” recalled Visha. For the next four months, Taylor received weekly physical therapy and learned to sit unassisted.

Physician Services

Despite this progress, Taylor’s physical capabilities continued to be delayed. At her one-year check-up, Taylor’s pediatrician referred her to a pediatric neurologist who diagnosed Taylor with SMA and referred the family to the Muscular Dystrophy (MD) Clinic at Children’s Hospital. In late September 2006, Taylor met with Jean Teasley, MD, Neurologist, and Eugenio Monasterio, MD, FAAPMR, Physical Medicine and Rehabilitation Physician, Co-directors of the MD clinic.

“When I first met Taylor,” recalled Dr. Monasterio, “she was a happy, cognitively normal 13-month-old. She has gotten weaker over time, which we expect to see with SMA, so our goals are to keep her healthy and provide therapy and adaptive equipment to help her do things a normal two-year-old can do.”

Working with a team of physicians and therapists, Dr. Monasterio and Dr. Teasley developed a comprehensive care plan for Taylor that includes keeping her respiratory functions clear, gaining trunk and neck support, using her hands and preventing the occurrence of secondary complications like scoliosis.

This multi-disciplinary care approach “works great for a child with complex medical needs,” said Dr. Monasterio, “because we can provide more immediate input.”

Taylor, who has received care through four of Children’s Hospital’s five core programs, benefited in February 2007 when she was at Children’s Hospital for a Children’s Feeding Program appointment. Dr. Monasterio, who was working nearby, learned Taylor was recovering from pneumonia. He prescribed a special vest that helps dislodge and thin mucus from the bronchial walls and make it easier to remove with coughs or suction. Because SMA has weakened Taylor’s chest muscles, this device helps prevent future illnesses by clearing her airways before they become infected.

“We always try to think one step ahead,” commented Dr. Monasterio, who sees Taylor three to four times a year through the MD clinic.

Children’s Feeding Program

After her first bout of pneumonia, Taylor started becoming selective about her food choices and began refusing everything except milk, goldfish crackers and veggie sticks. She lost 10 percent of her body weight and was seen by Children’s Feeding Program. Betsy Clawson, PhD, LCP, Behavioral Coordinator; Kimberly Ritenour, MS, RN, CPNP, Nurse Practitioner; and Dee Madore, MS, RD, CSP, Registered Dietitian, were part of the team that participated in Taylor’s initial evaluation.

During that visit, the team recommended Taylor start to receive tube feedings (she had a feeding tube but wasn’t using it), begin outpatient feeding therapy and establish a consistent tube and food feeding schedule. By March 2007, Taylor had regained her lost weight and was eating applesauce and yogurt but was still refusing pureed table foods.

At the same time, Visha learned about the Amino Acid Diet, which eliminates milk, soy, meats and most other food proteins and substitutes an elemental free form amino acid formula made from nutrients in their simplest and purest form. Although there is no medical research to support this diet, many parents of children with SMA say this dietary approach has helped improve respiratory health and strength, reduce complications from illnesses and airway secretions, and eliminate or improve constipation. In April 2007, with the support of the team, Taylor began receiving an amino-acid-based formula through her feeding tube and continued to introduce low-protein pureed foods to her diet.

“Our goal is to get her to eat a wide variety of foods,” said Dr. Clawson, “starting with pureed textures and including foods that fit into her special diet.”

“We want her foods and formula to provide all the nutrition she needs to promote normal growth,” added Dee. “But because of her limited mobility, we also don’t want her to gain too much weight.”

Like Dr. Monasterio, the Feeding Team communicates with Taylor’s other medical providers to offer comprehensive care.

“One thing we try to do is have verbal and written communication shared between all disciplines,” stated Kimberly. “We try to have all clinic notes copied and shared and ask parents to share information from other caregivers outside the hospital.”

Therapy Services

Because Taylor qualifies for therapy services through Chesterfield County’s early intervention program, she received monthly physical therapy at home until May and continues to receive weekly Speech Therapy, with a focus on feeding issues including oral/movement strength and fine motor skills. (Earlier speech sessions focused on teaching sign language and words until Taylor’s vocabulary improved.)

“Using all of Children’s Hospital’s services has been pretty seamless,” said Visha, who also brings Taylor to the Dental Program every six months. “They all work really well together. The fact that they’re knowledgeable about each different facet of Taylor’s care gives Taylor the ability to get the most out of her appointments.”

Although Taylor may never walk, Visha said “she’s come a long way with her therapies. She’s come out of her shell, is talking a lot more and sitting up really well.”

Moving Forward

In February 2007, Taylor “took her first steps” when she tested a power wheelchair during MD clinic. Visha described it on the web site as “her very own first step – her first time of self mobility.” Three months later, Taylor received her own power chair, affectionately known as “Mr. Purple.”

“She’s a whiz at driving it,” said Visha. “The first time she had it outside, she would roll up to trees and touch their leaves.” Visha’s next goal is to figure out how to waterproof the chair so Taylor can roll under the sprinkler and play with her sisters, 4-year-old Brooke and 8-month-old Madilyn, neither of whom have SMA.

This fall, the little girl who loves music and the mini Barbie keyboard she got for Christmas will welcome a service dog, a Golden Retriever named Hero, to help her retrieve items, open doors, turn lights on and off, and provide her independence.

“As a person, she’s a bubbly, happy little girl,” said Visha. “Working with her and playing with her, you forget how sick she is. Being at Children’s Hospital has been a great experience. Everyone is very friendly and very willing to help.”

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