Mambo Italiano serves up hope to raise money to help find cure for Angelman Syndrome
via Steamboat Today
Steamboat Springs — Olivia MacGray’s smile can light up a room. She is full of hugs and the type of energy you might expect to find with any other 8-year-old child growing up in Steamboat Springs.
But Olivia was born with a rare genetic disorder called Angelman Syndrome that causes neurological and developmental disability, sleep disturbance, seizures and difficulty with balance and walking, according to the Mayo Clinic.
Some people with Angelman Syndrome never walk and most do not speak. Olivia started walking just a little over three years ago at age 5.
“People who have Angelman Syndrome have it from the time they are born,” Olivia’s mom, Krysta MacGray said. “When Olivia was 6 months old I noticed that she was developing really, really slowly. She wasn’t sitting up or nursing well. She was the third of our four kids, so I knew that something was off from the get go.”
So Krysta and her husband, Jeremy, took Olivia to doctors looking for answers.
“It was a hard diagnosis to make,” Krysta said. “A lot of the signs were there and they were apparent, but she doesn’t have seizures.”
She said that symptom doesn’t always present itself, and in Olivia’s case, it kind of threw off the experts who would eventually diagnose her with the disease.
“We were really lucky that she doesn’t have seizures,” Krysta said. “The seizures are often life threatening.”
Angelman Syndrome is caused by a defect with the ubiquitin-protein ligase or UBE3A gene. In most cases, the missing or damaged gene can be traced to the mother, although in a smaller number of cases the paternal gene can play a factor.
Olivia is now in second grade at Soda Creek Elementary School where she attends regular classes, but Krysta said Olivia needs one-on-one attention to help her with classwork.
The MacGrays are making the best of the situation, but they are also holding onto hope that science might be able to open a door of possibilities for their daughter. Scientists have been successful at eliminating, or reducing, the symptoms of Angelman Syndrome in rats, and now, they are hoping to replicate that success in humans.
That’s why Jeremy, and his partner Hannah Hopkins, who own the Mambo Italiano restaurant in Steamboat Springs, will be donating 50 percent of all sales Friday to the Foundation for Angelman Syndrome Therapeutics.
“Their family is really close and tied into the community,” Hopkins said. “Olivia is obviously part of the Mambos family, and we all enjoy watching her grow up.”
The fundraiser is part of a nationwide effort being made by families dealing with Angelman Syndrome to support clinical trials that many hope will lead to a cure.
“They say cure, but I try not to get sucked in, or too excited about it … I don’t want to set myself up, but I would love it if these clinical trials led to an improvement for Olivia," Krysta said. "I would love to hear her talk, someday.”
Krysta admits that money for research, advancements in treatments and cures is hard to come by and normally comes from parents of children with Angelman Syndrome.
Olivia’s personal fundraising goal is $25,000, but Krysta said that even with the fundraiser at Mambo this week, that goal is lofty.
In addition to donating money to the cause, Friday’s event will also feature a silent auction, which includes a lasagne dinner for two, a Mambo's cheesecake and door prizes. To donate to Olivia's cause, visit this site.
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Individuals with AS typically have balance issues, motor impairment and debilitating seizures. Some patients never walk. Most do not speak. Despite its often devastating effects, Angelman syndrome is a simple disorder involving only ONE gene. FAST (short for Foundation of Angelman Syndrome Therapeutics) scientists have already cured AS in the lab using several different approaches. FAST is committed to bringing life-changing treatments for Angelman syndrome to clinical trial within two years. TWO YEARS, PEOPLE– but we need your help.
FAST has brought together a multi-disciplined team of more than two-dozen scientists from multiple universities and pharmaceutical companies to join forces on a focused path to a cure. Their work will change life for people with Angelman syndrome and, potentially, related disorders like autism and Alzheimer’s disease. FAST is the largest non-governmental funder of Angelman syndrome research and the only organization with a detailed plan towards a cure. FAST has set a $2 million community goal for this year. If we can meet this $2 million goal, we have an excellent chance of getting those funds matched -- and the faster we will be able to start clinical trials. Every dollar counts! Donate now!