Around the age of six months old, Sophia Renner’s parents, Julie and Jon, began to suspect Sophia was experiencing some type of developmental disorder.  She was not meeting typical infant milestones such as sitting up on her own.  The family had to prop Sophia in a seated position.  As she continued to grow, it became more evident that Sophia was having difficulty with gross motor skills.  She was unable to crawl or pull herself up as would be expected for a child her age.  The family was unsure what was causing Sophia’s developmental delays, but were determined to find out and assist Sophia in any way possible.

“We spoke to her pediatrician about our concerns, and he began testing to get to the root of the problem,” Julie remembered.  “While watching one of our sons play soccer, we met another family in our community, and they introduced us to their son, John, who had been diagnosed with Angelman syndrome.  John’s symptoms were exactly what we were seeing in Sophia.”

Angelman syndrome is a rare genetic disorder that causes delayed development, intellectual disability, problems with speech and balance, sleeplessness, seizures, and epilepsy among other medical issues.  Despite the symptoms, people with Angelman syndrome have an overall happy and excitable demeanor.  Angelman syndrome is caused by a loss of function in a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.  Every person receives pairs of genes from their parents, the maternal and paternal copy.  Typically, the body uses information from both copies to function.  In those with Angelmen syndrome, part of the maternal copy is missing or damaged.  In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.

As the pediatrician worked to confirm a diagnosis, Julie and Jon took measures to assist Sophia in building strength to better enhance her gross motor skills.  Julie was taking Sophia to areas around Columbus for care including physical therapy.  She was frustrated by the long drives and amount of time that she and Sophia were spending in the car.  One developmental specialist who was working with Sophia mentioned to Julie that Licking Memorial Rehabilitation Services offers pediatric therapy for children including physical, occupational, and speech therapy.  

“We took Sophia to Licking Memorial Rehabilitation Services for an evaluation in December, and she began working with Taylor Wright soon after,” Julie said.  “Sophia was only 10 months old and was wary of strangers.  She would cry when someone who she did not know would approach her.  Initially, Sophia would cry when working with Taylor, but Taylor was very gentle with her and soothing.  Now, Sophia lights up as soon as she sees Taylor.  Taylor is so compassionate and is a truly wonderful person.”

A short time after Sophia began therapy, the pediatrician was able to confirm that she was suffering from Angelman syndrome.  The diagnosis assisted her care team in creating a plan to enhance Sophia’s abilities.  Since beginning therapy, Sophia has been working to build strength in her extremities and core.  She is able to crawl and walk with the assistance of a walker and is very close to being able to walk independently. 

“Sophia has built a strong relationship with Taylor, and it is fun to watch them together.  The two of them bring smiles to the other people receiving therapy at the facility as Sophia walks around the therapy space with her walker,” Julie shared.  “I am so happy to have found an amazing therapist so close to our home.”  

In addition to Sophia, Julie and Jon have two boys – Matthew, who is 6-years old, and Isaac, who is 3-years old.  Both boys are very active with school and sports.  Caring for a child with developmental delays and keeping up with two active boys can be stressful and exhausting.  Both Julie and Jon moved from Pittsburgh, Pennsylvania for employment reasons, and have no extended family to rely on for assistance.  However, the Renners have formed very strong bonds and receive much support from the Granville community especially John’s family, the other couple with a child diagnosed with Angelman syndrome.  Sharing a desire to raise awareness, support, and funds for research, the two families along with their friends formed the Granville Angels Foundation.  The organization supports the Foundation for Angelman Syndrome Therapuetics (FAST), a group researching a cure for Angelman syndrome, and Angelman Syndrome Foundation.

“Medical researchers know what causes Angelman syndrome, and there is hope that they can find a cure or an at-birth option for treatment,” Julie explained.  “For Sophia, there is hope that a treatment will improve her quality of life, allow her to easily communicate her needs, reduce her seizures, improve her sleep, and allow for some independence.”

The care team at Licking Memorial Rehabilitation Services can offer multiple types of therapy and includes physical, occupational, and speech therapists as well as social workers.  Patients can receive treatment at the Gib Reese Center For Physical Therapy located at 1717 West Main Street in Newark, or at the Pataskala Health Campus located at One Healthy Place in Pataskala.