For Helen, life is not easy. For her parents, Jennifer and James, no day is ever the same.
Jennifer and James were excited soon-to-be first-time parents. Sonograms and prenatal tests did not prepare them for February 2, 2009 - the day their daughter Helen came into the world. She was born with a clubfoot, a cleft lip, hearing and vision impairment, absent corpus collosum, which connects both hemispheres in the brain, hydronephrosis, which leads to atrophy of the kidney, and suffered from seizures.
In the months following Helen’s birth doctors had no answers to the many difficulties Helen’s family was facing. Jennifer and James asked many questions, but only received looks like “this looks bad, but we don’t know what it is” from doctors.
Helen began physical and occupational therapies at Heartspring Pediatric Services when she was nine months old.
“Helen is one of my most involved clients,” said Cheryl Jabara, Helen’s physical therapist. “Immediately we started working on the basic skills for infant development like head control, tracking and reaching for objects, and mobility through rolling.”
These basic skills were very difficult for Helen and as time progressed her medical status began to worsen. She started having more seizures and was having difficulty getting enough calories to maintain her weight. As a result of her feeding difficulties, Helen had a feeding tube inserted into her stomach, making a dramatic improvement in her stature.
On December 22, 2009, a geneticist at Children’s Mercy Hospital in Kansas City gave Jennifer and James the news they had been waiting for, a potential diagnosis of Schinzel-Giedion Syndrome (SGS). SGS is a very rare disorder characterized by distinct facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder. Other characteristics of SGS include excessive hair growth (hypertrichosis), a flat midface, seizures, clubfeet, broad ribs, mental retardation, and short arms and legs.
When Helen received her diagnosis Jennifer informed Helen’s therapists that SGS was terminal and most kids with SGS don’t live past their second birthday.
“We were very saddened by this prognosis but recommended that Helen’s family continue to bring her to therapy for support, provide ongoing stretching and assist the family with ideas for positioning techniques and any equipment needs to help keep Helen comfortable,” said Cheryl.
Helen has made it well past her second birthday and continues to come to therapy every week to see either Cheryl or occupational therapist Mimi French.
“Although progress is limited, she continues to surprise everyone now and then. Especially when we find that perfect toy that just seems to motivate her,” said Cheryl.
Since receiving her diagnosis, treatment and therapy plans have changed for Helen.
“We used to think Helen had to have speech therapy. She had to wear these braces. We would tell her, ‘it will help you get better.’ Now we know (speech therapy and braces) won’t help,” said Jennifer. “She will not get better. Helen was able to do things as a newborn she can not do now.”
Therapies and services are now geared toward making Helen feel at ease. Her team is focused on learning new positions, playing with toys, and finding adaptations to ensure she is not in pain. Helen loves the piano, laying on her side, snuggling and being held by the window.
“Helen shows all of us how fragile life can be. She impacts the staff at Heartspring every time she walks through our doors for therapy. So does her mom,” said Kimberly Becker, director of Pediatric Services. “Jennifer is an amazing young woman. She has dedicated her life to her baby girl. She did not give up fighting for Helen. Although the goals, expectations and outcomes are not the same as they were two years ago, Jennifer still gives everything she has to this beautiful, wonderful little girl.”