Bedford mother is spreading the world about Angelman syndrome, need for help
BEDFORD - At first glance, Vincent and Madison Riso look like typical children. Vincent, 10, loves the New York Yankees, Derek Jeter and candy, while Madison, 8, loves gum, princesses and sparkly dresses.
But the siblings both have Angelman syndrome, a rare genetic disease found in 1 in 15,000 births that is often misdiagnosed as cerebral palsy or autism.
Characteristics of AS include developmental delay, speech difficulties and seizures.
Their mother, Lisa Riso, is spearheading an awareness campaign about the disease and her efforts have reached as far as the Governor's office, which has declared Friday, Feb. 15, Angelman Awareness Day.
That day, 23 other countries will also mark the worldwide awareness day for AS, Riso said.
According to Riso, Vincent was five weeks premature, and her concerns about his development were often chalked up to his early arrival.
"He was very colicky, wasn't a good sleeper and had a lot of pain after feeding," Riso said. "But everything was, 'well, he was early, he's small, let's give him time.'"
By his first year check-up, Riso said, Vincent wasn't sitting up yet, and he began receiving early intervention services. His occupational therapist felt that Vincent presented some symptoms of autism, Riso said.
At 18 months, Vincent was neither walking nor verbal, and by this time, baby sister Madison had arrived and was experiencing challenges of her own, with the similar difficulties in feeding and pain.
"There is something to be said for a mother's intuition," Riso said. "I couldn't accept that it was just colic."
By the time Vincent was three-and-a-half, Riso was growing frustrated.
"They kept saying, let's wait six more months," Riso said. "But the gap between him and his peers was widening and I needed answers."
Riso finally managed to get an appointment with a geneticist, and said the diagnosis of AS was mentioned within the first five minutes of their visit.
Vincent was tested, and the results were positive for Angelman's Syndrome, which affects the 15th chromosome.
Lisa was also tested, and it was determined she is a carrier for the disease.
"When Vincent's test came back positive, the doctor wanted to see Madison," Riso said, and she also tested positive for AS.
Riso said her questions began almost immediately.
"When you have a special needs child and you're presented with something you're so unfamiliar with, the first thing you ask about is life expectancy, then about the quality of life he'll have," she said.
But she said she received the best advice from one particular doctor, who told her to stop reading about the disease and stop the internet research.
"He said, push them to the best of their abilities, and just see who they become," she said.
Nearly seven years later, both Vincent and Madison attend Riddle Brook School, and while Madison has some speech and can read, write and spell, Vincent continues to have more cognitive difficulty.
"I believe they understand everything that is being said to them but don't have the motor planning and verbal capability to always formulate an answer, which is very frustrating for them," Riso said. "Imagine knowing what you want to say to someone but cannot get it out either to write it or to say it. They cannot tell me if something hurts, if they are getting sick or what happened at school."
Because Vincent and Madison look typical, Riso said there is a lack of understanding about their condition. Spontaneous hugs to strangers or struggles to communicate are often seen as acting out, Riso said, and she has learned to be less judgmental of other children.
Riso said a possible treatment of AS is in its early phases of study.
Minocycline, traditionally used as an antibiotic, has been shown to be effective in lessening the symptoms of AS, Riso said.
"If this works, it will be a short-to-market therapeutic," she said, as the drug is already FDA-approved. "Now, we just have to prove it's helpful in treating AS."
A fundraiser, sponsored by national restaurant chain Ruby Tuesday, will be held on Friday in more than 100 restaurants, including Manchester.
As part of the awareness day, those interested can make a donation to the "15-15-15" fund - $15 on the 15th of February for the 15th chromosome, Riso said. Donations can be made at cureangelman.org.
Riso remains hopeful that a treatment will be found.
"I can't give up hope," she said. "Sometimes, that's all we have as parents."