Faces of Rare Disease: Undetermined Diagnosis

Faces of Rare Disease: Undetermined Diagnosis

All this week on KPLC we have been bringing you stories of bravery and hope through our "Faces of Rare Disease" series.

In the time since this series was launched and today, one young boy's diagnosis has already changed.

To see seven-year-old Ian Loup in his element today, you would not know the years of struggle this young boy has endured since he came into the world three months early.  "The doctor told us that I was imminent to deliver at 24 weeks," said mom, Renee, "that they didn't know if they could stop it and Ian had a 30 percent chance to live."

Ian weighed only 1 pound, 12 ounces and an incubator at Lake Charles Memorial's Neonatal Intensive Care Unit was his first home.  "We were in the NICU 112 days and in that 112 days we went through so many different things," said Renee.

Ian's dad, Kenny says it is tough to remember all of the medical issues - because there were so many.  "Multiple infections, staph infections, a collapsed lung because an IV went bad, hydrocephalus, then the global brain damage...just one right after the other," said Kenny.

The first diagnosis Ian got was hydrocephalus, a condition where fluid builds up in the skull, causing the brain to swell.  "We did 16 surgeries the first year and a half," said Renee, "he's had a total of 20 shunt revisions."

Then doctors diagnosed Ian with "agenesis of the corpus callosum," a defect where the structure connecting the right and left brain is partially or completely gone. That diagnosis came four years ago and the Loup family adjusted to the developmental delays they thought were a result of this condition.

But just this month, a pediatric neurologist in New Orleans said that diagnosis is actually not correct.  "We're dealing with going back four years and starting with what we know and moving forward again," said Renee.

What the Loups do know is that communication has to be catered to what Ian can process.  "We've learned to slow down," said Kenny, "he's not gonna get it all in one shot, to give him one instruction at a time."

In spite of Ian's medical conditions, he is still able to learn and attend public school at Frasch Elementary in Sulphur.  Little changes are made, like having a teacher present information on his right side, to process first in his left brain.

West Cal-Cam Hospital's Therapeutic Riding Center has helped Ian tremendously - teaching him to tap into both sides of his brain and body.  Occupational therapist Stephanie Darbonne said, "We manipulate getting sensory feedback to every part of his brain throughout a session."

Renee and Kenny do not know if they will ever get another diagnosis for Ian that explains some of the delays and challenges he faces, but they say no medical condition can limit the love and life that he has to offer.  "He is always smiling," said Renee, "everything he's gone through, he still has a smile on his face every day."

The Loups say the misdiagnosis is likely a result of how much fluid had built up in Ian's head. That made it difficult for the doctors to detect exactly what was and was not in the brain at the time of the imaging.

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