Against the odds
Against the odds: Girls in the same class share rare genetic disorder
The News Herald, The Voice of Downriver, Southgate, Michigan
Published: Wednesday, June 19, 2013, by Andrea Blum
Imagine having a child diagnosed with a rare genetic disorder shared by only 250 others worldwide.
Now imagine running across one of those other people in the same class as your child.
That’s what happened to Angie Gielow of Taylor and her daughter, Jessi.
Jessi, 5, was diagnosed with Pitt-Hopkins syndrome in August 2012 after four years of tests.
After undergoing five specific genetic tests, the Pitt-Hopkins diagnosis was made.
Slow development as a baby was one of the first signs that something was wrong with Jessi.
“She was not holding her head up very good,” Gielow said. “She was late sitting up and she wasn’t grabbing or holding onto things, even when we would feed her a bottle — it was all over her and she had low muscle control.”
Pitt-Hopkins syndrome is a neurodevelopmental disorder with just 250 diagnosed cases worldwide. Although the cause is known, there currently are no pharmaceutical treatments available.
People with Pitt-Hopkins are severely mentally retarded, have dysmorphic facial features, decreased muscle tone and are susceptible to seizures and intermittent hyperventilation.
Caused by a mutation within or a complete deletion of the TCF4 gene, Pitt-Hopkins changes the way the brain develops and functions, causing delays in developmental milestones such as rolling over or sitting up.
Nearly everyone affected by Pitt-Hopkins is unable to speak in full sentences, though some may be able to communicate with hand gestures or single words.
When the family received the news in January 2012 that Jessi might have Pitt-Hopkins, Angie went straight to the computer to research the condition.
“As I began researching, I found the pitt hopkins.org website and got excited to read the story of Olivia in Michigan,” Gielow said.
“As I read her story, I couldn’t believe all the facilities and doctors she had seen that Jessi had also. I kept looking at her picture and saying to myself that she looked so familiar. A couple of hours later I realized Jessi and her were in the same class. It was the craziest thing.”
Six-year-old Olivia McCarthy, who also lives in Taylor, was diagnosed in 2007.
“There was nothing online then and her family was one of the first to start the support groups,” Gielow said. “They paved the way for Jessi.”
Olivia’s family has held an annual 5K to raise money for Pitt-Hopkins research for the past three years. Angie decided to get involved and help raise awareness about the disorder at this year’s event.
The fourth annual 5K for Pitt-Hopkins Syndrome takes place at 11 a.m. Saturday at Council Point Park, 3949 River Drive, Lincoln Park. Registration begins at 10 a.m.
Jessi and Olivia, along with two other girls with Pitt-Hopkins — Lilly Sammartano, 4, of Indiana and Adalyn Chadwick, 4, of Wisconsin — will attend.
“We definitely want to increase awareness,” Gielow said. “The more people who know and understand, the more opportunities there will be for treatment or for families to get tested.”
The two girls attend Madison School in Wyandotte, a special education program that serves students with severe multiple impairments and cognitive impairments.“Their classroom is really small and the teacher and two aides are just wonderful,” Gielow said. “I ran into one of her teachers the other day and she said they have Jessi walking in a walker every day to support her and get her to other areas of the classroom.”Students get physical and occupational therapy as well as speech therapy at the school.And speech is an area in which many children with Pitt-Hopkins need the most help.“One of the things that it affects most is speech,” Gielow said. “Jessi and most of the other kids can’t talk, but she will let you know what she wants and she can make a choice if you show her two things.”Jessi uses a wheelchair and walkers to get around and is capable of crawling.
“She’s very happy, always smiling and laughing,” her mother said. “That’s one of the great traits.”
It’s believed that most children with a developmental disorder will never receive a specific diagnosis.
One of the event’s goals is to raise money so that other families can confirm Pitt-Hopkins diagnoses.
“It’s so much easier to deal with when you know what it is,” Gielow said. “We want to try and come up with some sort of treatment to help them become more independent and adapt more.”
