Education part of mother's plan to cope with daughter's rare childhood disorder

When Emma-Leigh Savage was born four years ago next month, she weighed two pounds and seven ounces.

She wasn't breathing when she was born at the University of Maryland Medical Center and needed to be resuscitated.

No one expected her to live more than two days.

Four years later, Emma-Leigh stands about the height of a small 2-year-old and weighs just 21 pounds, a body weight comparable to a healthy 1-year-old.

Emma-Leigh has a condition called Russell-Silver Syndrome — a rare form of dwarfism that impacts about one child in every 100,000 births.

Because she suffers from the chronic gastrointestinal issues and the seeming inability to detect when she is hungry that plague many children with Russell-Silver Syndrome, she is dependent on a feeding tube in her stomach 20 hours per day that she carries around in a small backpack.

To help her catch up to other children her age, she receives daily injections of growthhormone.

Several months ago, Kendall Savage learned her daughter fell into a category shared by only 30 percent of children with Russell-Silver Syndrome, in which they do not carry either of the genetic indicators known to contribute to the condition.

Savage said an endocrinologist from France who was involved in that study, Irene Netchine, will discuss the results during the Magic Foundation for Children's Growth's annual convention in Chicago July 14.

A single mother, Savage is trying to raise the remaining $600 of the $1,600 she needs to take her daughter to this year's convention.

"I cannot miss this," said the 24-year-old Violetville resident.

The convention provides educational opportunities for families combating childhood growth disorders such as Russell-Silver Syndrome and gives kids like Emma-Leigh a chance to play with other children who face similar health problems.

Savage attended her first Magic convention in 2008, just one month after Emma-Leigh was diagnosed.

She returned the next year, allowing Emma-Leigh to participate in a medical study looking at the genetic causes of the syndrome.

She couldn't afford to attend last year.

But with Emma-Leigh, who currently attends a medical daycare, set to start pre-school in the fall, Savage said the conference will help her learn how to prepare her daughter for the future.

"There's so much to know about this," she said. "She has so many other issues because of the RSS that come along with it."

Sharing success

Missouri resident Dayna Carney, RSS division consultant and a parent volunteer with the Magic Foundation, described the conference as "life-changing."

The nonprofit organization provides support for the parents of children with chronic or critical disorders, syndromes and diseases that impact their growth.

It helps parents get the information they need to make better decisions about their child's care, Carney said.

"All any parents want to do is give their child the best that they can and for them to have all of the opportunities that are available to them," she said. "And you do the best you can with the information that you have at the time, so getting the information becomes really important."

Carney knows firsthand the benefits of finding such information. Her daughter, Alyssa, now 9, was diagnosed with Russell Silver Syndrome at age 1.

"I always like to call having a child with Russell-Silver Syndrome a journey, because you don't just go to one conference and get all the information you need and you're good to go," Carney said.

"You want to talk with other moms. You want to meet other kids, whether they're the same age, or older or younger, and you share stories and you share tips," Carney said. "Practical tips that you learn from other people who are going through the same thing that you go through."

In the beginning, the most important thing is to get the child to eat and hold up their head — which is often large compared to their small bodies, which usually lack muscle tone.

But as parents leave that "panic mode" with their children entering their toddler years, networking becomes important and they begin to consider issues such as preparing their child for school, Carney said.

Her mother said Emma-Leigh is now old enough to meet other children and understand that they also have feeding tubes.

"She knows she's small," she said.

Struggles from the start

Faced with an unexpected pregnancy at age 19, Kendall Savage had been told that her baby's small size meant her organs would not function properly after birth. Doctors recommended she terminate the pregnancy, but the 2005 Lansdowne High School graduate felt she should let nature run its course.

"I had a baby shower, but I was going to donate everything that anybody gave me to somebody else that needed it," Savage said June 16, while Emma-Leigh played nearby in a park near their Violetville home.

"Because there's a lot of people around here that literally need stuff," she said.

Three months after Emma-Leigh came home from the hospital, Savage found her in her crib, not breathing.

After being rushed to medical care, Emma-Leigh was fine, but doctors think she may have suffered a seizure.

By 6 months of age, Savage was told to put her daughter on formula because she wasn't gaining enough weight.

But Emma-Leigh's health problems intensified as she struggled to keep the thick formula down. She eventually stopped eating.

Through hospitalizations, trips to a gastro-intestinal specialist and a geneticist, Savage slowly became aware of a condition called Russell-Silver Syndrome and the Magic Foundation.

Joining an online chat group, Savage posted her daughter's picture with the hope other parents might help.

It was there she first heard of Madeleine Harbison, an endocrinologist with a specialty in Russell-Silver Syndrome. Traveling to Harbison's New York office, Savage learned that Emma-Leigh did indeed have the condition.

She has continued to take her daughter to see the specialist every three months and during Magic's annual convention.

Looking to future

Balancing Emma-Leigh's medical needs with her courses at the Community College of Baltimore County's Catonsville campus has been difficult, so Savage plans to move from her Violetville home to the Eastern Shore in the fall to be with her mother and stepfather, Patricia and Danny Germann.

"It has made school really hard," Savage said.

She had planned on becoming a nurse, but the rigors of nursing programs have led her to consider social work as a career instead.

Emma-Leigh has developed epilepsy and the unpredictability of her seizures can make it difficult for Savage to get to work or class.

The little girl doesn't get sick often. But the few times she does per year can land her in the hospital for up to a week, causing Savage to miss course work and exams.

Savage, who survives primarily on her daughter's disability payments, said she recently quit a job because of the conflict with taking care of her daughter.

Though having a child with special medical needs has impacted her school work and social life, Savage said she is "okay with that, because I like being with my kid."

She said Emma-Leigh's condition has become almost normal for her.

"I think when I have another kid, it's going to be weird if I have a kid that eats and grows and stuff like that," she joked. "I won't know what to do!"

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