“Mom, Dad, grandparents, aunts, uncles and cousins sobbed in private, but made it through the Thanksgiving weekend without letting vivacious, popular, smart-as-a-whip, 6-year-old Zach know about the incurable, neurodegenerative disease he has, or the cruel expectation that it will cripple him before it kills him.”

So began a November 2001 article by Daily Herald columnist Burt Constable. The article went on to say:

“All Zach knows is that he isn’t as good at playing goalie as some kids on his soccer team, and that his shaky handwriting was the only blemish (C- in penmanship) on an otherwise perfect report card.

He suspects nothing.

His parents know far too much. They got the word on Nov. 15 that their only child has Friedreich’s ataxia, a very rare neurological disease known to weaken muscles, slur speech, bend spines, force kids into wheelchairs and deliver an early death, generally in the form of heart problems in young adulthood.

Halfway through first grade, Zach doesn’t need to know that.

“That’s the hardest part,” says his mom, Susan, imagining the day when she and Zach’s father will have to tell him what’s wrong.

As for this Thanksgiving, “I’m thankful for what we have right now,” Zach’s mom says.

“He’s a healthy little guy. You would not notice it,” she says, her voice growing higher and faster as she tells how her pride and joy scrambled onto the swing set during a weekend game of Capture the Flag with the cousins.”

Within a few years after that article was published, Zach could no longer run, play Capture the Flag or soccer. And he continued to struggle as he began losing his ability to walk.

Shortly after Zach was diagnosed, my sister Susie began telling her son Zach about Friedreich’s ataxia and preparing him to make the best out of a bad situation. Since the day Zach was diagnosed, Susie and her husband Gary have always encouraged Zach to do his best.

Susie encouraged Zach to swim because the buoyancy of water provided extra support. Zach initially swam competitively with kids in his class, and later, as FA progressed, Zach began competing against other kids with disabilities.

Two years ago while visiting us from Ohio, Zach was still able to walk a few hundred yards with great difficulty. On a trip to a neighborhood park he made it halfway down our block—leaning against trees to regain his balance and strength as he struggled to stay upright. Eventually, exhausted, Zach consented to sit and ride in a wagon the remaining distance to the park.

When Zach could no longer walk unaided, he began getting help from his assistance dog Zane, a black lab. For the past year, Zach has been unable to walk and now uses a wheelchair wherever he goes. Zane accompanies Zach every day to junior high school in Perrysburg, Ohio.

During the past several years, Zach has made countless trips to various doctors, clinics, and hospitals for his heart problems and other illnesses caused by the unforgiving, relentless march of FA.

When Zach entered junior high school, he created a Power Point presentation for his classmates explaining what Friedreich’s ataxia does to the body. FA is a mitochondrial disease caused by a genetic defect in a single gene resulting in a lower production of frataxin, a protein that is essential for life.

Zach is still the smart-as-a-whip boy that Burt Constable described. Zach now uses a laptop computer to compensate for his lack of penmanship. Zach also is still popular with his friends, and they visit frequently— playing video games and having sleepovers on weekends.

Zach has refused to surrender to FA, and his parents do all they can to live each day as fully as they can. Last summer, Zach and his family joined other FA families on a rafting trip in Utah organized by a group that specializes in assisting the disabled. Zach’s personal courage continues to be an inspiration to his cousins, aunts, uncles and grandparents.

Our family has also become active with the Friedreich’s Ataxia Research Alliance (FARA) http://www.curefa.org, and I serve on its board. It is one of the organizations, along with groups such at the National Ataxia Foundation, and Muscular Dystrophy Association that are working with the National Institutes of Health (NIH), other government entities, and various drug companies to try to find a cure for FA.

Although an “orphan disease,” there is an immense amount of effort by FA families around the world to fund and coordinate support for research to get a treatment. FARA sponsored its third international research conference at the NIH in November 2006 and researchers came away from that meeting hopeful that FA would soon be “entering the treatment era.” Those hopes are starting to be realized:

• A phase III study of Idebenone is now underway at the Children’s Hospital of Philadelphia (CHOP) and the University of California Los Angeles (UCLA) and is based on results of a promising phase II study conducted the National Institutes of Health (NIH). FARA is working closely with the drug company Santhera to help with patient recruitment through its patient registry.

• A compound called A0001 discovered by Edison Pharmaceuticals shows promise of improving mitochondrial function (energy production) in FA patients. Edison has partnered with Penwest Pharmaceuticals for the purposes of advancing A0001 through clinical trials this year.

• Erythropoietin (EPO) is commonly used in dialysis and cancer patients. Austrian researchers found that EPO increases frataxin levels and plans are underway for an EPO trial later this year.

• The pharmaceutical company, ApoPharma, plans to conduct clinical trials on Deferiprone, an iron chelator, at a number of European sites.

• HDAC (Histone Deacetylase) inhibitors are compounds discovered for FA by Dr. Joel Gottesfeld of The Scripps Research Institute in La Jolla, California. These
HDAC inhibitors increase frataxin in cells from FA patients. The Repligen Corporation has licensed these HDAC inhibitors from Scripps for the purposes of advancing them through preclinical development and clinical trials.

Some of the world’s top FA researchers are now hopeful that a “cocktail” of various compounds being studied could eventually stop or slow progression of the disease. Hundreds of thousands of other compounds are being screened at labs around the world to see if they may benefit FA patients. If successful, these efforts will prevent future generations from facing the devastating consequences of FA.

My family is just hoping it all comes in time to help Zach.

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Paul Marcotte is a regular columnist for The Chicago Daily Observer.