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Remembering Jordan


Published:   |   Updated: October 15, 2013 at 02:02 PM

This article is published in Your Health, a monthly publication of Highlands Today

During his short five years of life, Jordan Ray Danielson's smile, laughter and determination touched the lives of family, friends and the medical staff that treated him for peroxisomal biogenesis disorder, a rare congenital disease that can affect vision, hearing, muscle tone and breathing.

"Everybody that came into contact with him said that smile was infectious," recalled his 27-year-old father, Kenneth "Kenny" Danielson of the little boy who enjoyed Elmo dolls, spaghetti, chocolate ice cream and cuddling on the couch at night with his dad.

"I remember the first time he laughed," he said. "He must have laughed for an hour; it was the cutest thing."

v vBorn in Sebring on Aug., 1, 2007, Jordan weighed 8 pounds and appeared normal at birth except for some jaundice and a little difficulty with his breathing.

"There was nothing to signify there was any problem," said his mother, Sarah.

But by 3 months of age the young couple noticed that their only child wasn't responding to voices, following them with his eyes or hitting other developmental milestones.

Concerned, they began to look for doctors who could tell them why.

Their search led them to a geneticist at All Children's Hospital in Tampa who was able to diagnosis through a blood test the rare inherited PEX gene mutations.

There are three types of PBD, now known as the Zellweger Spectrum: Zellweger syndrome, which is the most severe; neonatal adrenoleukodystropy, which Jordan had; and a milder form of the disease known as infantile Refsum disease.

According to Heidi Harris, communications coordinator for The Global Foundation for Peroxisomal Disorders, "peroxisomal disorders in the Zellweger spectrum are believed to affect only 1/25,000 to 1/100,000 live births, and the GFPD knows of only 126 living children worldwide."

"It took us six months to get a diagnosis," Sarah said with frustration. "The doctors didn't recognize it because there was no one in either family that was diagnosed before."

While testing has been done on the use of adrenal hormones, bone marrow transplants, plasma exchange and an oil mixture know as "Lorenzo's Oil," there is currently no cure.

The Danielsons were referred to a neurologist in Fort Myers and his consulting associate, pediatric neurologist and research scientist Gerald Raymond, at Kennedy Krieger in Baltimore, who offered answers and treatment for Jordan's progressing symptoms.

v v"For families who are known to have had an affected child, we can do prenatal testing," said Raymond, an authority on Zellweger who recently became the director of neurology at Amplatz Children's Hospital in Minneapolis. "This is an autosomal recessive condition, and so the recurrence risk for a couple is one in four. However, for other family members, while they may be carriers, the risk for them to meet up with someone else who is a carrier is very unlikely."

"You don't think it will happen to you. People need to be aware; don't take your child's health for granted," said Kenny.

He added that there is information on a simple, inexpensive genetic screening available at www.counsyl.com.

Three years ago, because of the lack of readily available information on the disease, a group of parents of PBD patients formed a family support group called the Global Foundation for Peroxisomal Disorders.

v v"He stopped walking, standing or sitting after his second birthday," said Jordan's petite 25-year-old mom, her shoulders sagging with the weight of the memory.

His symptoms got progressively worse, with seizures coming more frequently, difficulty breathing and his being unable even to control his eyelids.

Treatment often consisted of dietary restrictions and medications to manage Jordan's symptoms, to ease his breathing and help control his seizures.

"One of the main things I've learned from all this is that there are no guarantees in life," said Sarah. "You can't always be guaranteed you're going to have a healthy baby."

Jordan passed away this year on Feb. 8, but his parents see daily reminders of his life, the nonverbal ways they communicated and his love of being kissed.

"It was so reassuring to him. When I kissed him, he knew everything was OK," said Sarah.

v vWhile the Danielsons are aware there is a 25 percent risk of passing on the peroxisomal gene mutation they carry, they said that possibly in a few years they would consider having another child, but for now, they are trying to heal.

When they are ready, a chorionic villus sampling, or CVS, can be done 10 weeks into the pregnancy, in which a small sample of cells taken from the placenta is tested to see if the baby is a carrier, affected by the PEX mutation or healthy.

Sarah said, "Jordan made us into better people. He always did have the biggest smile on his face."

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