Zellweger Syndrome

Zellweger syndrome is a rare, congenital disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome, like Krabbe Disease, is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur. There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.

From A Zellweger Syndrome Mother:
When Erin Michele VanKampen was diagnosed with Zellweger Syndrome at 7 months of age, we were told that she would probably not survive to see her 1st birthday. Erin proved all the doctors wrong and not only celebrated her 1st birthday but her 2nd, 3rd, 4th, and 5th!

Erin was an incredible little girl. Her life was full of challenges. She was blind, hearing impaired and severely developmentally disabled. She never walked or talked and her life was a succession of medical appointments. She had a feeding tube inserted, slept in an oxygen tent because of a poor respiratory system, and received blood transfusions the last year of her life because of GI bleeding. Incredibly, through all of this, Erin remained a happy child. She loved to play with her sisters, Angela and Paige, and always had a smile. Her giggle was infectious and everyone who met her couldn't help but love her.

Letting go of Erin when her time came was the hardest thing our family has ever had to face. Although it has been three years since she's been gone, we still think about her and miss her every day. As time goes on, we can think of her with more smiles than tears, remembering all the funny things she used to do and especially remembering our little angel's beautiful smile.

For more information on Zellweger Syndrome, visit www.ninds.nih.gov/disorders/zellweger/zellweger.htm