Saving Eliza: A family's effort to save their daughter

By Dean Stephensdstephens@abcnews4.comCOLUMBIA, S.C. (WCIV) -{} A Columbia couple is doing all they can to raise $2 million and they need to do it by November. Why? Because if they don't, their 4-year-old daughter will lose her battle with a rare disease.

By the looks of 4-year-old Eliza O'Neill, there's little to show that she carries with her a death sentence.

"She is great; she is fun and like a lot of girls. She likes to dance, run and sing and she likes to play with her 7-year-old brother," said Eliza's father, Glenn O'Neill.

But unlike most four year-old girls, Eliza suffers from Sanfilippo Syndrome, a rare disorder with no known cure. Eliza is not expected to live past her early teens.

"It's proceeded by severe disability. The last five years, kids end up in wheelchairs, somewhat of a vegetative state, not interactive and can't feed themselves," said Eliza's mother, Cara O'Neill.

Her body is missing an essential enzyme. Without it, a toxic material is slowly building up in Eliza's brain and body.

"This disease will get you. It's working on her every second," said Glenn O'Neill.

And it's for that reason Glenn and Cara O'Neill{}have gone to work to raise money for a clinical trial.

"We found hope in a clinical trial that just figured out a break thru in gene therapy that stopped the disease in animals," said Glenn O'Neill.

The only thing to stop the clinical trial is money. The O'Neills turned to social media and a Canadian filmmaker who spent a week documenting Eliza's story. The video went online this week, and donations increased by $90,000. The O'Neills hope it will move other people to donate.

"You can't pay your {}way into these things, can't pay for a dose of Eliza's medicine. It's funding the clinical trials that will make it all happen. Without a clinical trial, Eliza has no chance at all," said Glenn O'Neill.

Sanfilippo syndrome causes severe neurological symptoms, most present at the age of 5. Eliza turns five in November.

To learn more:{}


About Sanfilippo Syndrome

Sanfilippo syndrome is a genetic error of metabolism. It is a mucopolysaccharidoses, an MPS disorder, MPSlll. Mucopolysaccharides are long chains of sugar molecules, which are used in building connective tissues. When the body is finished using these molecules, it breaks them down, with enzymes, and disposes of them. Children with Sanfilippo syndrome are missing or are deficient in the enzyme to break down the molecules. Instead, the body stores these molecules in the cells.This storage causes progressive damage.

There are four different types of Sanfilippo syndrome. Each type is different and named according to which enzyme is missing or defective.

* Sanfilippo Type A is the most common. It is considered the most severe type with earlier death than the others. These children are deficient in the enzyme Heparan N-sulfatase.

* Sanfilippo Type B is the second most common. This is the result of a deficiency in N-acetyl-alpha-D-glucosaminidase.

* Sanfilippo Type C is caused by a deficiency in Acetyl-CoAlpha-glucosaminide acetyltransferase.

* Sanfilippo Type D is caused by a deficiency in N-acetylglucosamine 6-sulfatase.

Sanfilippo syndrome was first described in 1963 by Dr. Sylvester Sanfilippo and is considered rare, with an occurrence of 1 in every 70,000 births. It is an autosomal recessive hereditary disorder, which means, both parents must be carriers in order for the child to be affected. There is a one in four chance of having a child born with Sanfilippo syndrome. There is a two in three chance that unaffected children will be carriers.

Sanfilippo syndrome is a progressive disorder, meaning that at birth the children appear typical and do not show signs of the disorder. As the disease progresses the children degenerate, losing the ability to speak, walk, eat and eventually lose their lives.

In the first stage of the disorder it is noticed that the child lags behind and develops behavioral issues.

{}In the second stage, the child may become extremely active, restless, and often have very difficult behavior. Some children have sleep disturbances. Many like to chew on their hands and clothing. Language and understanding will gradually become lost.

In the third stage the child begins to slow down. They have difficulty walking, falling often eventually losing the ability to walk altogether.

Most children experience seizures, joint stiffness, upper respiratory infections, hearing loss, dementia, hyperactivity, aggressive behavior, severe intellectual impairment, partial paralysis, growth retardation and vision impairment.

The current life expectancy is 10-20 years.

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