PEPPERELL -- In many ways, Olivia Twigg is just like any other 5-year-old girl. She can be sweet and kind and patient. She loves helping her little cousins learn their letters. She loves her 4-year-old brother Adam. She's shy in social situations. She loves music, especially Alicia Keys. She knows all this words to "Girl on Fire."
However, Olivia has to struggle with things that most 5-year-olds could never dream of. Olivia suffers from Rett Syndrome, a genetic disorder caused by a mutation of the X chromosome on the MeCP2 gene. The disorder is almost exclusively found in girls.
Essentially, said Olivia's mom Jill, the synapses in the brain don't connect.
"The thing about Rett Syndrome is the brain may tell you to do something like hug somebody because you're grateful -- her brain tells her to do that but her body does something else. She may think she's hugging me but she's hitting. She can't stop because her brain thinks she's doing the right thing," said Jill.
Although there is currently no cure for Rett Syndrome, specialists are developing treatment; clinical trials are being conducted at the Children's Hospital Boston, funded by the International Rett Syndrome Foundation, on a treatment called IGF-1, a growth hormone that is supposed to help complete the synapses in the brain, aiding with symptoms related to Rett's.
With the help of friends Sharon Mayer and Holly and Jeff Rutko, Jill is organizing "Laughs for Livi and Bets for Bella," a
The event will be held on April 20 at the Crestview Ballroom in Woburn from 6 to 11 p.m. It will include a casino, live music and a DJ, auctions that include Red Sox tickets, a signed Patriots' football and overnight packages at hotels. More than 55 items will be raffled off, including Keurig gift baskets, complete with a one-cup coffee machine. A $50 entry fee includes food for the evening. All proceeds go towards the International Rett Syndrome Foundation research. Local companies can also sponsor a casino table, a dinner table or an angel. Casino chips are traded for raffle tickets as opposed to cash.
The group also booked Lenny Clarke from television's "Rescue Me" to be master of ceremonies. And Clark is only one of several special guests attendees will recognize.
"If we could fill to 400 people, we would raise over $50,000 for Rett's," said Jill.
Jill held a similar event last year; all of Olivia's teachers from Boutwell in Groton attended.
Most girls with Rett Syndrome don't live past 30, said Jill, but the average age is between 5 and 15. Although girls do not die from Rett Syndrome itself, they usually pass away from complications of the disorder.
Jill received the diagnosis on Oct. 15, 2010, a month after Olivia's third birthday. The symptoms had started emerging when Olivia was 18 months old. She had started walking at 9 months old, and 9 months later she stopped. She had also begun having seizures. Jill took Olivia to have an MRI, which showed a Chairi malformation. After surgery to fix the malformation, she looked to be in the clear when the seizures started again. That's when the genetic tests were conducted and the diagnosis of Rett Syndrome was confirmed.
"The only thing I could think of is it's terminal. It's a terminal illness. I thought I was only going to have my daughter for a couple of years. I was devastated," said Jill. "I'm pretty sure I cried for a good couple of weeks before I saw the specialists."
Luckily, the specialists had some good news about treatment, informing Jill of the IGF-1 clinical trials.
A doctor leading the study has shown the effects of the treatment on a mouse model, which after being immobile on the floor was given IGF-1 and started walking.
"That won't happen in a human because it's still a different form (of Rett's), but it should be able to fix that connection," said Jill.
Phase 1 on the clinical trial was successful in 75 percent of the girls that used it. Olivia was selected to participate in phase 2, which is set to begin in a couple of weeks.
Last May, Olivia was picked as a Make-a-Wish child. She and her family were picked up in a limo and taken on a Disney cruise.
"She had the best time," said Jill. "She loved Cinderella, and the Chipmunks."
Rett Syndrome also comes with a myriad of other symptoms. Because of the disorder, Olivia's brain is incapable of naturally achieving REM sleep; she has been known to wake up 10 to 12 times in the middle of the night. With medication, that has been reduced to four to five times a night.
Olivia also has seizures about five times a week, including while she's sleeping. She'll wake up very disoriented, sometimes giggling, sometimes screaming. Because of this, her bed is in Jill's room. The family is on the waiting list for a seizure dog from Paws for a Cause. Once that happens, Olivia will be able to have her own bedroom.
Rett's also causes debilitating anxiety that can lead to severe meltdowns upon breaking a child's regular routine.
"She's hot and cold. Sometimes she's cuddly and lovey and wants to be huggy. I call it the Rett monster -- it kicks in and she becomes very aggressive and frustrated," said Jill.
A girl is born every two hours with Rett Syndrome. Girls with Rett's often start off symptom free, which can last until about 18 months, at which point parents might notice a regression in motor skills and the ability to communicate. While some of the skills might be relearned, about 80 percent of girls are not able to regain their lost skills.
"Most girls with Rett's don't ever talk. It's like they're trapped in their own bodies. It's a mixture of cerebral palsy, autism, Parkinson's, a seizure disorder and an anxiety disorder, all in one little girl," said Jill.
Olivia was able to regain some of her speech but still has difficulty communicating. Jill invested in an iPad with unique software to help Olivia with this hurdle.
"If she's thirsty, she can't find the words to tell me that she would like a drink. It's very frustrating for her," said Jill.
Meanwhile, Jill is hopeful for the clinical trial.
"I think it will be fantastic. I think over time, it will help with symptoms," she said. "It's not a miracle drug. A girl who's never walked isn't going to take IGF-1 and start running. But it will help you know how your body can hug."