prevents conversion
of sugar to energy
Child’s illness spurs
parents to seek cure
Rare genetic disease
prevents conversion
of sugar to energy
BY LARRY RAMER
Staff Writer
Zachary Friedberg
MARLBORO — When 6-year-old Zachary Friedberg is able to run a short distance, his parents are ecstatic.
"Other people are concerned when their child is not the star of the soccer team. We’re thrilled when [Zachary] is able to run up and down the field a couple of times," said Zachary’s father, Michael Friedberg. "Everything Zachary does is a gift for us and an accomplishment for him [because] nothing comes easily for him."
Zachary can never eat birthday cake, or candy on Halloween. The boy has learning disabilities and muscle weakness. His fine-motor skills are impaired.
"He can’t ride a bike, play video games, or button his shirt — things a normal 6-year-old would do," said his mother, Rhonda.
Zachary, who lives with his family in Marlboro, suffers from an extremely rare genetic disease — pyruvate dehydrogenase deficiency — that prevents his body from converting sugar to energy. The boy is missing the enzyme that allows this important transformation to take place. Instead of turning sugar into energy, Zachary’s body turns it into poisonous lactic acid which prevents his brain and body from functioning properly, Michael Friedberg said.
The Friedbergs knew something was wrong with Zachary when he was 5 or 6 months old. However, the family had to wait until their son was almost 3 and then visit six or seven doctors before Zachary was successfully diagnosed, his parents said.
As a result of his disease, the child suffers from seizure-like episodes, Friedberg explained.
"He’ll go to sleep or collapse for anywhere from 10 minutes to an hour," Zachary’s father said.
The disease affects mitochondria, the energy-producing component of all human cells, and causes muscle weakness and has various neurological ramifications, he added.
Zachary must refrain from eating carbohydrates as much as possible, his father explained.
The most difficult implication of the disease is the likelihood that Zachary will not live past the age of 20 unless a
cure or treatment for the disease is found. The Friedbergs said almost every person who has the disease dies in their teenage years.
"It’s hard for us. Every episode of sickness or setback makes our minds say ‘Is this the beginning of the end of the road for us?’ That’s hard to live with," said an emotional Michael.
The extreme rarity of Zachary’s disease has discouraged medical professionals from seeking a cure or treatment for the disorder, Zachary’s parents said.
"There’s not a lot of money to be made from (researching) this disease," said Rhonda.
She said a doctor who is one of the leading authorities on the disease only has seven or eight patients.
"There’s very little research into this disease, almost none," Michael added.
The Friedbergs are trying to change that. They are launching an effort to raise money that will fund research into mitochondrial diseases like Zachary’s. The couple is starting The Zachary Foundation that will enable people and businesses to contribute to the cause.
"We would like to find a cure or some kind of treatment," Rhonda said.
The Zachary Foundation will hold its first fund-raiser — a walk/run in Marlboro — on Oct. 24, Michael said. The Friedbergs are working to find sponsors and participants for the event. They are also seeking individuals who would be willing to donate items for an auction that will be held in conjunction with the walk-run.
People can find out more about the foundation, the fund-raiser and mitochondrial diseases by accessing the Internet address www.thezacharyfoundation.org.
Meanwhile, the Friedbergs are doing their best to cope with Zachary’s illness.
"Having a child who has chronic medical issues changes so many things in your life that it can’t be described. Through the perseverance of our family and the perseverance of Zachary, we do our best to live life as normally as possible," Michael said.
Zachary’s brother, Benjamin, 8, is trying to teach his younger sibling how to play video games. Zachary is a special education pupil in the Marlboro public school system. The Friedbergs also have a daughter, Rebecca, 2.