Sweet Caroline . . . Reaching Out, Touching Hearts - Middlesboro parents’ journey to solve a genetic mystery
As four-year-old Caroline enters the Physical Rehabilitation Center at Middlesboro ARH Hospital, she swiftly moves through the automatic, sliding glass door and runs into the waiting arms of Miss Jenny, her occupational therapist.
Her excitement about seeing Miss Jenny again is obvious by the long, loving embrace and cheery smile she gives her therapist. For almost a year now, Jenny Mills has been helping Caroline improve her sensory, directional, social and life skills.
Caroline is a true beauty with shoulder-length blonde hair, sparkling blue eyes, rosy cheeks and a playful smile that easily melts your heart. At first glance, Caroline looks like a typical preschooler, but her parents Mark and Alice Elkins say their daughter is far from typical. In fact, they were told two years ago that her genetic make-up was exclusive--no record of anyone like her; and so began their journey to solve a genetic mystery.
“Since I carry a genetic disorder (Robertsonian translocation which is unrelated), my pregnancy was considered high-risk, so I was referred to an OB specialist in Knoxville, Tn. who had experience with my condition,” said Alice Elkins. “During all my exams and ultrasounds, I was told that everything was perfect. Even when I delivered Caroline, I was assured that she was perfect. Her Apgar score was eight within one minute after birth and a nine within five minutes. Though she developed respiratory distress and spent four days in the Neonatal Intensive Care Unit at East Tennessee Children’s Hospital, I was told this can happen and not to worry.”
Caroline’s discharge diagnosis was pneumomediastinum1 resolved and hyperbilirubinemia.2 After her treatment at the Children’s Hospital, she received light therapy for three days. Caroline’s birth weight was 7 pounds, 9.2 ounces, birth length was 20 ½ inches and head circumference was 34.3 centimeters. Caroline was discharged from the hospital after seven days.
Elkins shared: “When Mark and I brought Caroline home, she seemed to be fine. She ate and slept well, and for several months, we thought she was progressing normally. During check-ups with her pediatrician, we were assured that she was fine. Caroline was 11-months-old when I realized she couldn’t pull herself into a sitting position. I would sit her up and she would stay in the same position for awhile, but she wouldn’t attempt to pull herself up. That’s when I began to question her development.”
Another milestone for a child is learning to walk. In 2008 during an evaluation at East Tennessee Children’s Hospital, it was determined that Caroline would need physical therapy. Caroline completed several months of intensive therapy and began walking at 19 months.
After numerous visits to pediatricians who ruled out various disorders, there were no concrete answers. Alice, being an elementary education teacher and Mark, a special education teacher and pastor of a local church, did research online, hoping for information that would lead to the answers they so desperately needed.
“We were devastated with the knowledge that something may be wrong with Caroline,” said Mark Elkins. “As a family of faith, we asked God for direction.”
That’s when a pediatrician finally referred Caroline to the University of Tennessee Development and Genetics Center in Knoxville, Tn.
After a series of tests were administered to Caroline and her parents, it was recommended they pursue further laboratory work (see specific tests and results in sidebar). Once all tests were completed, Caroline’s parents were told there were no reports of other individuals with the exact same chromosome 8 duplications seen in their daughter; therefore, the clinical significance of the duplication remains unclear.
“We continue this journey with Caroline, hoping to find someone who is like her, but so far, her DNA remains a mystery, and we wonder how far Caroline can go with learning basic life skills,” said Mark Elkins.
Though Caroline’s parents are still searching for answers, they have been pro-active with their daughter’s care. Over the last two years, Caroline had scans of her heart, lungs and kidneys, and the scans were all normal. She also wears glasses for esotropia of the right eye.
In July 2010, their journey took them to Louisville, Ky. where Caroline had a comprehensive neurodevelopmental evaluation by a child development specialist. The evaluation revealed that Caroline was at risk in her cognitive, receptive communication, expressive communication, and fine motor and gross motor skills.
Caroline’s father shared: “As a special education teacher, I understand what it means when a child scores in the lower percentile. Some of Caroline’s scores were the lowest I have seen on a professional level; however she was only two at the time the test was given. After reading her scores, I remember feeling numb at first then asking God if this was why I had a special education degree.”
According to Elkins, from that moment on he and his wife Alice accepted the fact that their daughter had special needs, and so began the next step of their journey. Caroline began intensive speech-language therapy, occupational therapy, sensory therapy as well as a developmental preschool program.
According to Christina Bambach, speech-language therapist at Middlesboro ARH Hospital, during Caroline’s initial evaluation in May 2010, she understood only a few commands, used less than three words and imitated words occasionally.
“Now, Caroline uses at least 70 words and is starting to make some spontaneous word combinations,” said Bambach. “Caroline also recognizes most letters of the alphabet and makes letter sounds--even her counting skills are emerging.”
For the last several months, Bambach has used iPad therapy with Caroline. “Caroline is a sensory seeker and the iPad adds the additional sensory input that she craves,” explained Bambach.
Mills has noted an increase in Caroline’s attentiveness to tasks as well as improvement in following direction.
“I have worked with Caroline on self-feeding skills for some time now,” explained Mills. “Recently when I gave Caroline a cup of ice cream and a spoon, she could scoop and eat the ice cream with little to no spillage, which is a significant accomplishment for her.”
Mills shared that Caroline also is responding well to Sensory Integration therapy.
“Caroline’s balance has improved and her muscle tone has increased as a result of sensory integration exercises, specifically using the swing and ball pit,” added Mills. “Caroline enjoys these exercises because she thrives on being active.”
Since March 2011, Caroline has attended public preschool. Four days a week, a team of professionals teach Caroline through highly-structured and goal-oriented sessions, effective learning skills and behavioral strategies to enhance her personal-social and environmental interactions. Currently, Caroline is using a picture schedule to convey her wants and needs. She continues to be successful on an electronic-based output device (iPad) because she gets instant gratification from this technology.
According to her teachers, Caroline has done extremely well in categorical matching (i.e., foods, sounds, clothes), which can be challenging for most four-year-olds. Since being in preschool, Caroline’s social skills have significantly improved. She smiles and says hi to everyone she sees and in play groups, she is comforting if one of her peers is hurt. Caroline’s teachers noted that if they could use one phrase to describe her, they would say Caroline is a ray of sunshine.
According to Elkins, Caroline likes to sway while singing along to simple songs such as ABCs and Wheels on the Bus. “Caroline loves music,” said Alice Elkins. “She gets so excited when the music plays; it lights up her world.”
When asked what one thing Caroline has done to light up Elkins’ world, she quickly shares: “The day Caroline called me ‘momma.’ This milestone mother's anxiously await was not achieved until Caroline was three. Even now when she says momma, my face lights up and I feel so blessed.”
Caroline’s father smiled and added: “Yes, Caroline is definitely a momma’s girl. They have a special bond. There are moments when Caroline’s personality really shines. When Caroline finds a way to break through her physical limitations, we are given a glimpse of who she truly is and can see her unlimited potential. I believe Caroline can achieve more, and I want to do all I can to make that happen.”
According to Caroline’s parents, the speech, occupational and sensory therapies at Middlesboro ARH Hospital and her participation in the preschool program are making a real difference in Caroline’s quality of life; and as they continue their journey, they are holding onto their belief that someone who hears their story will help them find the answers they need.
As our interview ended, we looked across the room and saw Miss Jenny and Caroline approaching our table. Seeing her mother, Caroline quickly let go of Miss Jenny’s hand and ran straight into her mother’s arms, showering her with hugs and kisses.
After Miss Jenny said good-bye to the Elkins family, she turned to me and said, “Caroline is so sweet.” I nodded in agreement and as I walked down the hall of the hospital to my office, Neil Diamond’s song Sweet Caroline played in my head while Caroline’s story stirred in my heart.
Written by Elaine Lambert Smith, community and patient advocate at Middlesboro ARH Hospital in Middlesboro, Kentucky.
|Genetic Testing for Caroline
Tests included metaphase chromosomes, subtelomere FISH panel, FISH for 22q11 and fragile X studies. Caroline’s subtelomere FISH panel and 22q11 FISH study revealed no deletions, duplications or translocations. Fragile X DNA also was normal. However, her chromosome study revealed a mosaic karyotype which included a marker chromosome [Marker chromosome, specifically:45,XX,der(13;14)(q10;q10)/46,XX,der(13;14)(q10;q10),+marker].
Caroline’s microarray results further defined the unknown marker chromosome as three separate duplications of chromosome 8 at locations 8p11.22-8p11.21, 8p11.21-8q11.21 and 8q11.21.
Conclusion: With no reports of other individuals with the exact same chromosome 8 duplications seen in Caroline, the clinical significance of the duplication remains unclear.
If anyone knows of a child like Caroline or has any information that would help the Elkins family as they continue on their journey for answers, please contact me at firstname.lastname@example.org or 606.242.1103.
1 Pneumomediastinum is air in the mediastinum. The mediastinum is the space in the middle of the chest, between the lungs. Most often, it occurs when air leaks from any part of the lung or airways into the mediastinum.
2 A condition where there is a high level of bilirubin in the blood. Bilirubin is a natural by-product of the breakdown of red blood cells; however, a high level of bilirubin may indicate a problem with the liver.
About Appalachian Regional Healthcare (ARH)
Appalachian Regional Healthcare is a not-for-profit health system serving 350,000 residents across Eastern Kentucky and Southern West Virginia. Operating 10 hospitals, multi-specialty physician practices, home health agencies, HomeCare Stores and retail pharmacies, ARH is the largest provider of care and single largest employer in southeastern Kentucky and the third largest private employer in southern West Virginia.
The ARH system employs nearly 5,000 people and has a network of more than 600 active and courtesy medical staff members representing various specialties. Firmly committed to its mission of improving the health and promoting the well-being of all people in Eastern Kentucky and Southern West Virginia, in the past 12 months alone, ARH provided nearly $133 million in uncompensated care for the uninsured and underinsured.