What is Hunter Syndrome?

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts.

In Hunter syndrome, the buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.

Hunter syndrome appears in children as young as 18 months. It mainly occurs in boys, although very rarely it has been observed in girls.

There's no cure for Hunter syndrome. Life expectancy of these children is roughly 12 years.

What are the Signs and Symptoms of Hunter Syndrome?

Although children with Hunter syndrome seem to be normal at birth, characteristic symptoms begin to appear between the ages of 2 and 4. These symptoms vary based on the age of onset and the severity of the condition. The symptoms manifest as a continuum between the severe and the attenuated versions of the syndrome. 

• Nose becomes broad
• Tongue is enlarged
• Cheeks become enlarged and rounded
• Lips thicken
• Voice becomes hoarse due to enlarged vocal cords
• Liver and spleen become enlarged (hepatosplenomegaly)
• Fluid builds up in the brain (hydrocephalus)
• Hernia (soft extensions or out-pouching) develops in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia)
• Enlarged head (macrocephaly)
• Hearing loss
• Thick non-elastic skin
• Frequent infections in the ear
• Characteristic skin outgrowths that look like pebbles
• Heart valve issues
• Aggression in behavior
• Stiffness in joints
• Delay in talking and walking
• Growth is restricted
• Carpal tunnel syndrome
• Retinal issues leading to compromised vision
• Compressed and damaged spinal cord

How can I help?

Sock-it 2 Hunter Syndrome has joined forces with Nationwide Children's Hospital to help fund a gene therapy clinical trial. 

We need to raise $1,000,000 by the end of 2018 in order to make this clinical trail a reality. You can read more about the trial here