My name is Julie Guillot, and my son, John, has Ataxia.  John’s journey began on January 19, 1998, just a few weeks after he was born.  As a newborn, he was admitted to the hospital with RSV and had routine blood work performed.  The blood work showed that his platelet counts were low, and over the next couple of months, we were sent to St. Jude’s Children’s Hospital for more tests.  The next 8 years were spent chasing the cause of the low platelets and facing the reality that something was “just not right.”  He even had a slight tremor in his little hands. He was subjected to many bone marrow aspirations, blood draws, and a host of other tests. NO ANSWERS. 

Fast forward to age 6….I was told that John couldn’t write words from the board in class and that his low test scores were negatively affecting the school.  I was devastated and angry, but I wanted what was best for our child.  He continued his education in a home-school setting, but as he aged, I could tell that cognitively and physically he was struggling.  I asked myself over and over again, “What am I missing?”  It wasn’t until he experienced a fainting spell that his first MRI was completed at St. Jude’s, and it was there that we found out that something was wrong with his Cerebellum.  St. Jude’s released him.  He didn’t have cancer.  Low platelets, yes, but he didn’t have cancer.  Again, feeling dejected and lost, we sought a neurologist in Baton Rouge. This doctor sent us to Texas Children’s Hospital for answers.  Again…nothing.

At this time, we knew John had some form of Ataxia, but we had no genetic testing to determine what type.  Insurance would not cover the cost, and I simply couldn’t afford the testing.  The results of the tests were not going to influence the treatment plan anyway, so we persevered forward.  John went to a public high school and was a part of the Special Education program.  His diagnosis was OHI….Other Health Impairment.   

As John entered into adulthood, his father and I saw the progression of the unsteady gait, the shaking hands, the marbled speech, the Nystagmus. We painfully witnessed his stumbling in unfamiliar environments, his struggling to use a fork and spoon, and his crying from sheer frustration and exhaustion.  As caregivers, we felt helpless.   

It wasn’t until 3 years ago when we joined NAF that we began to feel somewhat hopeful and validated.  We found the Movement Disorders Clinic at USF.  They performed genetic testing, and after 23 stressful, painful years, we had a cause.  John has a genetic ataxia called Ataxia Pancytopenia caused by a mutated gene SAMD9L on Chromosome 7.  He is now a patient in the Movement Disorder Clinic at Ochsner in New Orleans.   

Although we know there is no cure and even though the progression of his disease does seem to be quickening, we have hope.  We are not alone anymore.  The National Ataxia Foundation and its members have connected our family with friends from all over the world who UNDERSTAND.  John is a member of the “30 and Under Group,” and he and I are co-group leaders for the Louisiana Support Group.  In the midst of the suffering and uncertainty that Ataxia brings and although Ataxia is a thief, the Guillot family will fight, and John will never have to fight alone.