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Great Things in Small Packages: ACHONDROPLASIA IN CHILDREN
By Carol Muse Evans
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You’ve probably seen “Little Couple,” “Little People, Big World,” or even “7 Little Johnstons” on The Learning Channel. These programs hope to take some of the mystery away from families with “little people,” who may have achondroplasia, much like our cover model Daisy this month, as well as give a glimpse into what life is like for Little People. “Achondroplasia is the most common form of dwarfism, or disproportionate short stature that affects the way bones of the body develop,” says Anna Hurst, MD, medical geneticist at the University of Alabama at Birmingham and Children’s of Alabama. “It is one of many types of skeletal dysplasia, or differences in how the bones and skeletal system form.” While it is not necessarily hereditary, it is a genetic condition that happens when there is a difference in the way a person’s FGFR3 gene is spelled. This gene gives instructions to the body about bone growth, Hurst explains. It can also be inherited from a parent who is affected with the condition, she adds, and it happens to about 1 in every 20,000 people. “If a parent has the condition, there is a 50 percent chance each of their children could have it. About 20 percent of people with achondroplasia have a parent with the condition, and in the other 80 percent it is a new genetic change,” Hurst adds. In Daisy’s case, she has one parent, her mother, with the gene. Bailey, Daisy’s mom, was born with it, “but we had no history of dwarfism in our families,” says Daisy’s grandma and Bailey’s mom Laura Rogers, a registered nurse. “For most families such as ours, it’s what’s called a fresh mutation’ meaning it just happened. “A gene mutation at conception,” Rogers adds. “I say we were blessed.” “Because Bailey married an average sized man, we knew there was a 50/50 chance of it being passed on,” Rogers says. “We found out at about 22 weeks that Daisy had the gene.” Babies with achondroplasia may have some special needs, Hurst says. They may have sleep apnea or narrowing in the back of the skull that pinches where the brain and spinal cord travel. These can be serious….so early monitoring is very important, and some people may need surgery. “They may develop a build-up of fluid in the brain called hydrocephalus. Over time, they can have frequent ear infections and problems with the bones of the
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spine, hips and joints. Some children can have delays in their development, but most people have ‘normal’ intelligence as an adult,” Hurst explains. “Some children may benefit from early developmental therapies, like speech, physical and occupational therapy. At home parents may need to pay attention to how their car seats, bathrooms, toys and clothes are safe and adapted to make them easy for the child to access,” Hurst says. The same will be true for the classroom setting. “In our home, when Daisy’s mommy was younger, we never said ‘growing up,” Rogers recalls. “I supposed because I knew she would never really grow up in height. We always said, ‘when you get older.’ There are definitely other obstacles to children (and adults) with Achondroplasia. “She (Daisy) faces public staring and discrimination,” Rogers explains. “Even now, her mommy, my daughter, is still stared at. People take pictures of her. As a mother, you never get over this. As Daisy’s grandmother, I cannot imagine I will be any different.” “There are offensive words that are still used to describe a person with dwarfism,” Rogers explains. “’Midget’ is a huge no-no. The preferred term is ‘Little person’ or ‘person of short stature.’” It is important to mention that achondroplasia is just one type of skeletal dysplasia – there are more than 400 different types, but others are usually rarer, Hurst adds. “If you are concerned about how your child’s height or bone development, talk to your pediatrician to see if they should be evaluated by a geneticist.” “I see beauty when I look at Bailey and Daisy,” Rogers says. “I don’t see a disability. I see the loves of my life when I look at them….and I would so much rather answer your questions and educate you rather than have someone stare, point or laugh.” “There is a national support group called Little People of America. It was started by the actor Billy Barty in 1957, and each year they have a national convention, followed by the Dwarf Athletic Association of America Olympic games. The Birmingham chapter is called the Magic City Chapter of Little People of America, Rogers says. “Daisy is the biggest little girl I know,” Rogers explains. “Though she is little, she is fierce. I told her mommy back when she was younger, and I will tell Daisy the same thing – ‘God doesn’t make mistakes.’ What a boring world it would be if we were all the same. God knows exactly who to give special children to,” Rogers adds.
Carol Muse Evans is publisher of Birmingham Parent.
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RYAN STILL SHINES
THE RYAN SHINES BURN FOUNDATION HELPS FIREFIGHTERS AND CHILDREN “A place where no burned child will be left behind and no firefighter is forgotten.”
By Carol Muse Evans
About 20 years ago, Ryan Hirn and his family, who lived in Texas, were in a fiery car accident. Dawn and Ron Hirn, Ryan’s parents, and his two-year-old brother Tyler were burned over more than 27 percent of their bodies, but they survived. Seven-year-old Ryan unfortunately did not. Dawn Ryan says she and her husband went into a deep depression. “The only thing that kept us alive was our surviving child. You cannot tell your heart to live on – I felt dead inside for about 10 years,” Dawn recalls. Years later, at age 41 and feeling the need to add more children to her “big Catholic family,” Dawn said she and her husband had two more boys, Colton and Trenton. A decision was made to move to Lake Martin in Alabama to get closer to her Georgia roots to raise her growing family. They even homeschooled for a while, but life eventually took the family to Mountain Brook where the children went to regular school, and Dawn felt the need to do something to give back to burn victims. “I felt like I was finally coming out of my depression,” she adds. She first wanted to work with pediatric burn victims, which they did, but as they got to know firefighters who were involved and had been touched by these pediatric victims, Dawn says she found her niche, her purpose. “Firefighters have a high rate of suicide,” Dawn explains. “It is probably about number 2 (cause of death) in the country among first responders. It’s tough. So we set out to help both pediatric burn victims and the firefighters touched by them.” “The Ryan Shines Burn Foundation is dedicated to the healing of pediatric burn survivors and firefighters,” Dawn says. “As you would guess, firefighters and survivors do not meet together after the fire. Most of the time the firefighters never know if the patients they rescue and care for ever leave the hospital. That’s is where we come in.
“We are striving to fill the void left behind from not knowing what happens. They only way to do that is to bring them together. We spend the whole year organizing events for our survivors, their families and firefighters.” It started with a burn camp that their oldest son, who had been in the tragic car accident, attended, then worked there as a counselor. Then they took a fishing trip to the Florida Keys, and it was there they found what was needed – the interaction of the firefighters with the surviving burn victims. Today, the Keys Fishing Trip continues and has grown into a whole fishing tournament. They still do burn camp, and they offer scholarships to other camps, as well as activities for both burn victims and firefighters all throughout the year. Ryan continues to “shine” long after his death through the foundation his parents have created, touching many lives who have been hurt by fire. Learn more about the foundation, how to receive help or volunteer/contribute at www. ryanshines.com and https://www.facebook.com/ RyanShinesBurnFoundation1/.
Carol Muse Evans is editor and publisher of Birmingham Parent.
CHILDRENS OF ALABAMA
Since 1911, Children’s of Alabama has provided specialized medical care for ill and injured children. Ranked among the best pediatric medical centers in the nation by US News & World Report, Children’s provided care for youngsters from every county in Alabama, 42 other states and seven foreign countries last year, representing more than 677,300 outpatient visits and more than 15,600 inpatient admissions. With more than 2 million square feet, Children’s of Alabama is among the largest pediatric medical facilities in the in the U.S.
Children’s offers inpatient and outpatient services across its Russell Campus on Birmingham’s historic Southside with additional specialty services provided at Children’s South, Children’s on 3rd and in Huntsville and Montgomery. Primary care is provided at more than a dozen medical offices in communities across central Alabama. Children’s of Alabama is the only medical center in Alabama dedicated solely to the care and treatment of children. It is a private, not-for-profit medical center that serves as the primary site of the University of Alabama at Birmingham (UAB) pediatric medicine, surgery, psychiatry, research and residency programs. More information is available at www.childrensal.org
1600 7th Ave. South Birmingham, AL 35233 205-638-9100 www.ChildrensAL.org
