‘Angels’ fight to find cure for rare genetic disorder
They are the milestones every new parent looks forward to —when their baby sits up for the first time at 5 months old, when their baby takes his or her first steps at 8 months old, and when their child says “dada” or “mama” for the first time around age 1.
They are the moments when children first start to write their stories, but for Joe and Taina Moretti of Monroe, that story changed with one phone call.
“When Joey was first born we didn’t have any problems,” said Taina Moretti, mother of Joey Moretti. “He was born at 38 weeks gestation and it was a healthy pregnancy. There were no crazy signs of anything being wrong. He was very tiny though. He was four pounds, 13 ounces.”
It wasn’t until Joey turned 5 months old that Taina and Joe became concerned about their son’s progression, noticing that he had missed every basic milestone made by healthy children in their first year of life.
“In comparison to other children his age, he wasn’t hitting the same marks they were,” Taina said.
By the time Joey was 7 weeks old, he had been diagnosed with many different disorders — Pertussis, Torticollis, Sandifer Syndrome, Dyspraxia and Developmental Coordination Disorder. But none of the diagnoses provided Joey’s parents with the answers they were looking for.
Getting the diagnosis
“He was misdiagnosed a bunch of times. The doctors thought it might be brain damage from a loss of oxygen, like cerebral palsy,” Joe said.
It wasn't until a phone call on July 3, 2013 that the Morettis received a correct diagnosis, which fit all of their son’s symptoms.
The Morettis were on vacation with their family and friends when they learned that Joey, who was a year-and-a-half-old at the time, had what is known as Angelman Syndrome (AS) — a rare and complex genetic disorder that affects one in 15,000 live births.
“When we got the phone call last summer, Joe and I went on the Internet and what we read was terrible. If you go online, you will see that it basically says your son will be handicapped,” Taina said.
Angelman Syndrome, which was first discovered by Dr. Harry Angelman in 1965, primarily affects the nervous system and is caused by a deletion on chromosome 15 (the UBE3A gene).
AS causes those affected to have delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. These signs and symptoms become noticeable between the ages of 6 and 12 months in those who suffer from the syndrome.
“The worst part of AS is seizures. Luckily, Joey doesn’t have seizures, but there are kids who will have 30 to 50 seizures a day and have to be heavily medicated and the medicine slows them down,” Joe said.
After reaching out to their pediatrician, Taina and Joe agreed that early intervention was Joey’s best chance at improving.
“We started physical therapy with Zielinski Physical Therapy, and then ... we entered the Connecticut Birth to Three program,” Taina said.
Currently, Joey is working with a total of eight different therapists — two speech language pathologists, an applied behavioral analysis specialist (ABA), and special education teachers.
“He started off with just physical therapy, and then we moved to occupational therapy and speech therapy after that. This is the first time that the Connecticut Birth to Three program is piloting something with ABA therapy, so now Joey is getting intense therapies Monday through Friday with all these different types of specialists,” Taina said.
“Most Angelman kids don't talk, so the chances of him talking are very low,” Joe said. “He might say a few words. But the therapy is going to help him walk. That is the goal — for him to walk and move around.”
Each day Joey is showing signs of improvement, making milestones of his own.
“The goal of his therapist is when he exits the Connecticut Birth to Three program, he will be able to walk,” Taina said. “Balance has always been Joey’s biggest obstacle, which is keeping him from being able to walk. He works really hard at it.”
But Joey hasn’t been slowed down in all respects.
“You look at Joey today and he knows what you are talking about. He may not be able to verbalize it, but he is a smart kid. He knows what he wants,” Taina said.
And while therapy is the best medicine for children with Angelman Syndrome now, it is not a cure. A cure is, however, possible, according to two experts on the disease.
Edwin Weeber, a professor of molecular pharmacology and physiology at the University of South Florida, and Benjamin Philpot, a professor of cell and molecular physiology and member of the University of North Carolina's Neuroscience Center, are the two leading doctors who are testing and advocating for a cure for AS.
Since the doctors have identified the gene that causes Angelman Syndrome, they have been able to identify the same gene in mice and disrupt it to create a true human cognitive disorder mouse model, according to Weeber on friendshipcircle.org, a nonprofit organization that provides support to the families of individuals with special needs.
“If you have read about Angelman Syndrome, Joey is missing the maternal gene on that chromosome 15. He was born without it,” Joe said. “But he was born with the father’s gene, the paternal gene. In all humans, your paternal gene is inactive on the 15th chromosome.
"Since the doctors have figured out how to activate that gene in the lab mice, through testing and research, you can watch the lab mice — the ones that are engineered to have AS — go through the maze and they can’t get through it; they bang against the wall," Joe said.
"Then when they activate the paternal gene in the mice, they make it through the maze and don't show any signs of having AS," he said.
Research funding is an issue
However, because Angelman Syndrome is so rare — affecting about 25 children born each day — there is not enough funding to allow for further experimentation.
“The doctors feel like if they raised $20 million they would be able to find a cure,” Joe said.
Furthermore, finding a cure for Angelman would not only change the lives of children like Joey, it would have a profound impact on people who suffer from other related and rare disorders, such as Prader-Willi, Rett and Fragile X Syndromes, along with more common disorders such as autism and Alzheimer’s disease.
And with the potential for a cure in sight, the family and friends of the Moretti family are doing everything in their power to ensure that one day it is a certainty.
Forming a foundation
After receiving the news of Joey’s diagnosis, Monroe Town Council Vice Chairman Frank Lieto, Nicole Lieto, Liz Moretti, Tony Moretti and Jamie Cotter formed the Fighting Angels Foundation (FAF) — an organization dedicated to providing support, research, awareness and funding for Angelman Syndrome.
“We started this foundation with the closest people to Joe and Tai; we are all like family,” said Frank Lieto, president of FAF. “When the diagnosis came, we were all together on vacation.
"We all said we would really do whatever it took to help," Lieto continued. "We had a launch party in November and we raised over $10,000. That provided our seed money to allow us to move forward and help us get this foundation off the ground.”
Since their launch party last fall, FAF has used some of the money raised to send Joe and Taina to attend the Foundation for Angelman Syndrome Therapeutics (FAST) conference in Chicago.
“Initially what we did was send Joe and Tai to the FAST conference because what we are really trying to do is educate ourselves about what other organizations are out there,” Lieto said.
“What we are learning is that there is not a lot of research or attention and not a lot of money being put into research for this disease," he said.
Fund-raising event planned
The Fighting Angels Foundation plans to change that, however. On March 8, the organization will host its first major event — the Raise Your Wings fund-raiser, at Testo's Restaurant in Bridgeport from 7 p.m.-midnight.
Liz Moretti, vice president of FAF, said that this year, the organization expects 300 people to attend the sold-out event, which will feature a raffle, silent auction, dinner, dancing and open bar.
With a ticket price of $125 and sponsorship packages that range from $250 to $3,500, Liz Moretti said the foundation is hoping to raise a total of $50,000 at the event, and hopes to make it an annual occasion.
“We want to fund research, we want to fund events to raise awareness, and do what we can to help Angelman families,” Lieto said. “We all love Joey and we want to be able to help Angelman families worldwide. We believe a cure is possible — it just needs the proper attention.”
Despite the obstacles before them, the Morettis refuse to accept that their son will not hit progressional milestones. They believe Joey, who turned 2 years old on Nov. 6, will make milestones of his own.
Whether it’s in five months, eight months, a year or more, they believe they will see Joey take his first steps on his own, and hear him say “dada” or “mama” for the first time.
“Joey is perfect the way he is," Taina said. "In 10 years, I hope there will be a cure. He will be 12 years old and will have the rest of his life to live and tell his story.
How to help
To learn more about Joey, the Moretti Family and Angelman Syndrome, visit the Fighting Angels Foundation at fightingangelsfoundation.com.
To make a donation by check, address checks to P.O. Box 173 Monroe, CT 06468, or make a donation online through PayPal.