Real People. Real Stories. Part 2

Jody's Story

My son Jody was born in New Zealand, a healthy baby boy, following a normal pregnancy.

The first year of his life, Jody passed all the important milestones as he should.  But then I discovered he wasn’t eating well or sleeping well at night either. At three years old we were referred to a pediatrician who couldn’t give me any answers, in fact I came away feeling really down. His growth was slow, and many times, people mistakenly thought his brother was the elder son.

I took Jody to Doctors on numerous times, but none were concerned about him. No one at his school ever had any concerns.. Just after his nineth birthday I went back to my doctor and demanded answers. Finally, he took notice, and Jody was admitted to hospital for investigations. Initially he was diagnosed with Friedreich's Ataxia. At nine years old, Jody was brought to the Children’s Hospital in New Zealand in a very weakened state, he couldn’t walk.

The staff performed multiple tests on Jody and an EKG because he was in cardiac failure. The hospital staff treated Jody with special care and I stayed with him at the hospital to provide some comfort and security for him.  After a few weeks, he was sent home but just a day later lab tests confirmed that Jody had very elevated levels of phytanic acid, and therefore the diagnosis of Refsum Disease came about. Our life with Refsum had begun.

We were asked to bring Jody back immediately and for five days he was put on a special diet to lower his phytanic acid.  To lower his levels, two treatments were recommended. Plasma exchange, which is a process of replacing the plasma in the blood with plasma from normal donors. This happened over 30 times in the next 20 months, which Jody bravely endured.

The plasma exchange exchanges along with the new restrictive diet became to bring Jody back to health and a normal teenage life.

Today, Jody and the rest of our family live in Southland New Zealand. Jody is fortunate to work full time for Ministry of Social Development as case manager helping people with disabilities find employment. He lives independently in his own town house, and walks to work with his beautiful dog, Belle.

I discovered Susan Kuranoff who started a Yahoo support group about Refsum, and then later I found the Global DARE Foundation when it was created. And we met with Kristie DeMarco  when she Australia visited this spring!

What I hope for in the future is a cure for Refsum, especially a cure for the vision loss.  I hope people never give up searching for answers even when it seems no one is listening.  And follow the Refsum Diet in the hopes it will slow progression for you as it did for Jody.

My advice for other folks with Refsum is – “Live your life the best you can and don’t be too hard on yourself.”

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Jody’s story is one of strength, persistence, and hope. His journey reminds us how vital early diagnosis, community support, and access to care are for people living with Refsum Disease.

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