With shutdown ongoing, Midlands family turns to support network - wistv.com - Columbia, South Carolina

With shutdown ongoing, Midlands family turns to support network

Eliza O'Neill Eliza O'Neill
Eliza and Izzie Eliza and Izzie
Eliza and her dad Eliza and her dad
Eliza and Logan Eliza and Logan

When Glenn and Cara O'Neill tell you they don't have time for a government shutdown, believe them.

It's been one week since WIS told you how the shutdown is impacting their fight for their daughter's life. The O'Neill's 3-year-old daughter, Eliza, was diagnosed this past summer with Sanfilippo Syndrome Type-A, a rare autosomal recessive hereditary disorder. That means both parents must be carriers in order for the child to be affected.

According to the Team Sanfilippo Foundation, there is a one in four chance of having a child born with Sanfilippo Syndrome. One in every 70,000 births result in a baby with Sanfilippo. It is also 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.

There is no cure for Sanfilippo in humans. But, clinical trial research is closing in on a cure. They've cured the disorder in mice and are moving towards human trials on a gene therapy in the latter part of 2014. But, the government shutdown has furloughed the Food and Drug Administration employees and federal grant writers, who are integral players in the research at Nationwide Children's Hospital in Columbus, Ohio. 

With the clinical trials that are the best hope at a cure for Eliza on hold, Glenn and Cara's efforts to raise awareness and donations for Sanfilippo have taken on an amplified urgency. And, they aren't alone.

The O'Neill's are now looped into a network of families across the world, but especially in South Carolina, that are faced with the emotionally, physically, and financially taxing job of raising a child with Sanfilippo.

The O'Neill family lives in Columbia. But, stay in contact with families like the Jurado and Pacl families.

Leslie Jurado of Rock Hill drives her 11-year-old daughter, Izzie, to Eliza's house for a "play date."

Noelle Pacl of Charleston makes the less than 2 hour drive with her 6-year-old son, Logan. Logan was born with Sanfilippo. He has a twin brother and an older brother who were not born with the genetic disorder. They all gather in Eliza's backyard to play. The parents share stories, information about their experiences with Sanfilippo.

It's not often a nearly 4, 6, and an 11 year old get together to play. But, there is that one thread that ties them together, a disorder with a big name that none of them can say. They're too young to understand.

Izzie is Leslie's first born. Knowing the high chance any other children she had with her husband would have Sanfilippo, the Jurado's adopted two children. But, a "surprise" pregnancy brought concerns the biological baby would share the same disorder that is stealing Izzie's life.

The words "Sanfilippo Syndrome Type-A" were first uttered to Leslie when Izzie was 3.

Leslie says it's devastating to see your child running and playing and at the same time being told by doctors of what lies ahead.

According to the Team Sanfilippo Foundation, at birth, children appear typical and do not show signs of the disorder. As the disease progresses the children degenerates, 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 eight years, when most parents watch their children grow and develop, Leslie had to watch Izzie reach different milestones, the kind that go backwards.

Leslie says, "Izzie lost her ability to walk and talk. She had a feeding tube placed in August."

Izzie is in the third stage of the disorder. Her mother knows she will likely lose her daughter in her early teens.

"I'll be honest with you, I'm not afraid of her dying. I'm afraid of her being in pain and suffering," says Leslie.

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.

Izzie's progression to this point of the disorder can be seen playing out in the yard she sits in with her mother.

Logan is in the second stage of Sanfilippo. 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.

Noelle, Logan's mom, has watched his twin brother develop like most children. Logan, she's watched, lose his ability to speak.

Noelle says, "You have the future planned out for your kids. And, then it's taken from you."

Eliza's parents, Glenn and Cara, are only beginning to feel the emotional and financial strain.

On days like this play date in their backyard, they see what the future holds for their sweet little girl through her friends.

Glenn says, "The frustrating aspect for the children, for Logan, is a good example of six months ago he had speech. Now he doesn't speak. Imagine what that is like for a child."

Eliza was diagnosed over the summer. She'll be 4 next month. Her diagnosis is considered an early "catch."

There is a hope with that clinical trial that's cured the disorder in mice through gene therapy.

Cara is a pediatrician who specializes in children with special needs. She remembers the first phone call she had as both a mother and doctor with the researchers in Columbus.

"I said, yes! Yes! This is it!," Cara says.

Between an early diagnosis and the hope in a hospital lab in Ohio, the O'Neills are on a mission. It's a push for a cure. But years of research and millions of dollars are on hold over the government shutdown.

Glenn and Cara can only hope Eliza doesn't hit a Sanfilippo milestone, those steps backwards, that her friends have already taken.

Friends of the O'Neills have organized a benefit concert for Eliza on Nov. 22 at 6:30 p.m. at Leaside on Garners Ferry Road.

With it being so close to the Clemson-Carolina rivalry game, it will be a battle for the most donations.

Local bands made up of mostly doctors who moonlight as rock band members will take the stage. The event being billed as a party, Carolina-style. For more details and information on tickets, contact organizers on Eliza's Facebook page. Just search "Eliza O's Story" on Facebook. Or, send an email to tbrown1233@msn.com.

Since WIS first aired Eliza's story on Oct. 3, her gofundme.com account has generated more than $12,500 in donations. Prior to the story, the O'Neills had raised more than $15,000 on social media alone.

The nationwide goal of $2.5 million is aimed at helping children and their families travel to Columbus, Ohio for the clinical trials on humans and the expense of conducting a groundbreaking study of this nature.

How to Help:

To contribute to a fund set up by the Team Sanfilippo Foundation to help families find a cure click on this link: http://www.gofundme.com/ElizaONeill

Show your support to the O'Neill family by stopping by their Facebook page. Lots of pictures and video of Eliza and her big brother, Beckham are found here: https://www.facebook.com/ElizaOStory

For more about Sanfilippo Syndrome: http://teamsanfilippo.org/

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