Most people fear any late night phone calls that might bear tragic news or a doctor’s unexpected diagnosis. The statement, “Your daughter has Sanfilippo Syndrome,” instantly and traumatically altered one Columbia family’s existence. Moments before these words were uttered by a geneticist, Cara and Glenn O’Neill had a bubbly, beautiful 3 1/2-year-old daughter just experiencing some developmental delays. What they quickly learned from the doctors and further research was that Sanfilippo is a deadly, rare, incurable neurological disorder that destroys brain cells.
Cara was stunned. As a pediatrician, she was vaguely familiar with the condition and suddenly felt like she was in the Twilight Zone. Glenn felt his heart sink as he learned that his daughter would gradually lose her ability to speak, walk and feed herself — and that her time with them was limited.
“When you find out about Sanfilippo, you don’t have a lot of time, so you can either act quickly or not act at all,” says Glenn.
Cara adds, “The news that there is no treatment and no cure changed everything in our world. I felt like we were completely plucked out of a safe, normal life and put on the moon.”
The O’Neills’ world includes a healthy, active 8-year-old boy, Beckham, who is enrolled at a Columbia charter school. Glenn is a contract consultant who negotiates corporate deals. Ironically, Cara was a special needs pediatrician. She says the experience thus far, nearly two years later, has truly given her a heart for understanding the real challenges for parents with special needs children. Treating other children for 10 years helped prepare her for the unexpected care and attention she would need to show her daughter.
The only immediate positive of the diagnosis was knowing that Eliza’s behavior was not a result of poor parenting. Children with Sanfilippo Syndrome are born carrying two copies of a faulty gene, which results in a missing enzyme needed to break down molecules and cellular waste in the brain and body; when not broken down, the cells become clogged and die. Eliza began to behave in ways that convey the actions of a somewhat rebellious child, but not a sick child.
For example, she might take crayons and write on the wall and not acknowledge or understand the consequences. She might want to run out of a restaurant instead of sit at a table, or run off of a soccer field instead of playing soccer. She also showed signs of delay in various areas. Such mounting instances caused the O’Neills to have Eliza checked, but what they learned from a simple urine test that led to a blood test was beyond any expectations. Eliza has type A of the syndrome — the most severe form. Most victims do not survive past their teenage years.
“It was devastating,” says Cara.
A Glimmer of Hope
Through research and discussions with Eliza’s doctors, primarily Kathryn Stephenson and Katie Clarkson, the O’Neills quickly learned that researchers at Nationwide Children’s Hospital in Columbus, Ohio, have been working for years on a gene therapy cure for Sanfilippo and that their daughter might qualify for a clinical trial. However, organizing a clinical trial is an expensive venture. Children have to be evaluated and meet specific criteria. Drugs have to be readied. It is a long, arduous process and one fraught with anxiety. Plus, the clock is ticking.
Yet, the O’Neills were immediately on board. They attended medical conferences, sought advice from other families experiencing Sanfilippo, and quickly learned the process of making a “viral” video — one that instantly captures the attention of many. The couple says that, as soon as word of mouth spread that Eliza was in need, people whom they had not known previously came out of the woodwork to help.
A Canadian photographer, Benjamin Von Wong, offered to make a short documentary of Eliza. Local public relations and advertising experts volunteered their time. Columbia schools chipped in to help raise awareness and funds. With no real understanding of clinical trials and fundraising efforts, Cara and Glenn gleaned knowledge from people who stepped up to offer expertise. In addition, local, national and international media covered their story; the Saving Eliza video, indeed, went viral.
Cara says one of the silver linings throughout their Sanfilippo ordeal has been their elevated faith in humanity. “Whenever we have expressed a need for this or that, that need has been filled. Even when we didn’t reach out, our needs have been met. These are very spiritual moments for us.”
Glenn adds, “So many of our best friends now are people we didn’t know before this. Now they are ingrained in our lives. We’re learning and growing in areas we never had expected.”
A result of establishing the Cure Sanfilippo Foundation with the motto “Hope is a nice word; but we need action!” has been countless interviews and opportunities to connect with people worldwide. The intention of the foundation is to help all children with Sanfilippo by funding research for a cure. The O’Neills do not want money to be a deterrent to helping children presently and in the future. Because of all of the exposure, in a six-month timespan, $1 million was raised for research. To date, the figure is up to $2.2 million and 35,000 donors. The O’Neills are hoping to raise $500,000 more in 2015.
Even though one of the foundation’s goals is to raise money, it also focuses on awareness and advocacy; plus, the O’Neills have experienced unexpected results. For example, one family recently saw their interview on Today.com and contacted the O’Neills to tell them that they had thought about having their son checked for developmental delays. They had an appointment months down the road, but the awareness raised in the interview alarmed them enough to insist that the physician see their child sooner for a screening urine test. “That resulted in a quicker diagnosis,” says Cara.
Part of the foundation’s ongoing efforts will be to push for earlier screenings, even though Sanfilippo is considered a rare disease. “When parents know early, it helps them determine a course of action,” she adds, pointing out that doing something is better than doing nothing. She maintains that you have to be an advocate for your child to give him or her every possible chance of survival.
Glenn shares, “As much as we are fighting for our daughter, this whole experience makes us want to give back and be there to help others. We have been able to give some advice to other families in need that allowed them to reach more people with their stories. When you receive the selfless support we have, it only makes you want to be a better person. Because of all that has happened through this, we have seen firsthand that there is kindness and generosity in the world.”
All Consuming
Besides throwing themselves into founding and operating the foundation and raising awareness and funds, the O’Neills still have to parent their children. And, with the chance that a clinical trial could possibly be ready in time for Eliza, they decided to drastically alter their lifestyle. More than a year ago, the O’Neills put themselves in self-isolation. If Eliza becomes infected with a specific virus that will actually be used to deliver the gene therapy medicine, she would likely not be eligible for the trial when it becomes available because she will have developed immunity to it.
Cara left her practice to be home with Eliza and Beckham, who continue daily Skype lessons with teachers. Glenn works from home. The children also Skype their friends and, occasionally, when the weather allows, they will meet friends in a field and “play” — just not closely. The parents take every opportunity to let their children run or bike in open fields, on beaches, and anywhere outside that does not involve close contact with others. Eliza’s grandmother shops for the family a few times a week. Some items are ordered online. Other friends have volunteered to run errands. Eliza also receives weekly therapy through Skype.
Everything has to be wiped down and disinfected before entering the house. The O’Neills have had to be around other people a handful of times by necessity, such as two required trips to the Ohio hospital conducting the clinical trial. In these instances, the family, as well as those they come in direct contact with, wear masks, footies and gloves.
Despite the isolation, the O’Neills try to keep their home environment as lively and creative as possible. When Valentine’s Day rolled around, the family dressed up and decorated the house, and Glenn and Eliza had a special daddy-daughter dance. For Eliza’s birthday, Glenn dressed up like a clown and juggled. The family plays games often, dances to music, draws and colors.
“The hardest part is that the children don’t get normal interaction with other children. That is tough as a parent,” says Glenn. “We do have a lot of quality family time … more than most families. Before this diagnosis, we would really only get to spend time together for a short time in the evenings and on weekends.”
“I certainly don’t miss the rat race in the mornings,” adds Cara.
Shortly after Eliza was diagnosed, Cara and Glenn met with a psychologist to know how to parent Bekham through the ordeal. They wanted to know what they should share with him. They learned that when he asks questions, they should give him answers.
“There’s always the question, ‘Are we doing the right thing?’” says Glenn. “People have told us to let Bekham live with other family members while we go through this with Eliza, but she’s his sister. We think he will be strong. He loves his sister and plays with her, but he also knows she desperately needs medicine.”
The O’Neills say the most arduous aspect is the waiting. When they were told it might be six months before a trial was ready, they felt they could handle the isolation. Now, it’s been over a year. Glenn says, “The trial continues to get pushed back because of drug production; they, of course, need to get it just right. Science just doesn’t move forward quickly enough for a child with a degenerative disease.”
Parents 10 years ago had no chance for their children. At least now there is a chance for Eliza and other children who currently have Sanfilippo. As they wait, the O’Neills treasure every minute with Eliza, who is still communicating and expressing — unlike many children her age suffering from Sanfilippo. For the most part, she is happy and oblivious to the storm surrounding her. Yet, her parents notice subtle changes daily.
They both acknowledge that the day Eliza was diagnosed was the most difficult of their lives thus far, but each day brings its own level of sadness and worry. “There’s hardly a day that goes by that we don’t break down and cry,” says Glenn.
Yet, they both yearn for what they call their fairytale ending.
“It’s a lifestyle of real ups and downs, ebbs and flows,” says Cara. “There are times when things are really busy and there are times that are quiet. Those are the hard times … the quiet waiting times.”
For more information about the Cure Sanfilippo Foundation, and to see the three-minute video, visit CureSFF.org or SavingEliza.com.
