Angelman Syndrome: Close to a cure?

By Allison Louie-Garcia – Tue May 24, 4:33 pm ET

Rebecca Burdine knew something was wrong the day her baby girl was born.  Sophie was born without a natural sucking reflex, making it nearly impossible to eat.  Later, it became clear that she had hardly any muscle strength at all.  As the months passed, Burdine, a developmental biologist from Princeton University, grew more worried about her daughter's poor sleep patterns:  short blocks of sleep interspersed with intense screaming fits.  When she turned four months old, Sophie began having seizures, sometimes as many as three an hour.

The first time Sophie suffered an Absence seizure, also known as a "petit mal" seizure, Burdine had no idea what was happening: "It was like watching TV when suddenly the screen turns to static, and then the channel comes back like nothing ever happened," she says.

Several months later, Sophie was diagnosed with Angelman Syndrome, a genetic disorder marked by severe developmental delays, sleep disturbances, and oftentimes seizures.  Actor Colin Farrell recently sparked interest in this relatively rare condition when he spoke publicly about his 7-year-old son James' diagnosis on the Ellen DeGeneres Show.  The Irish actor discussed how his son's seemingly always happy demeanor and intense fascination with water caused James' pediatrician to test him for Angelman.  As of last week, searches for Angelman Syndrome has spiked on Yahoo! , at one point becoming its third most trending topic.

According to Burdine, the newly renewed interest in the disease could not come at a better time, as researchers are on the brink of finding a cure.

"The dogma used to be that if you were born with a developmental disorder … that was it," said Dr. Paul Lombroso, director of the Laboratory of Molecular Neurobiology at Yale University.  "This has all changed."

Adds Burdine:  "We now know the 'cards' can be re-dealt!"

As opposed to other neurological disorders like autism and Alzheimer's, which affect many different genes, Angelman Syndrome only affects one: the UBE3a gene.  Because researchers can pinpoint what causes the disorder—the absence of UBE3a—they were not only able to genetically alter a mouse to mimic Angelman symptoms, but they were able to successfully cure it.

Tailoring that cure for humans is the logical next step, but funding is still needed to move forward.

"Everyone talks about finding a cure: 'We're going to cure cancer, we're going to cure autism, diabetes, etc.' But we're actually talking about a cure here," Burdine said. "What's frustrating is that the only thing in the way is money."

Burdine says that while Angelman is a relatively rare disease—affecting 1 in 15,000-20,000 births—curing it would be a gateway to finding a cure for other neurological disorders—like Alzheimer's and autism—as well as anything that affects learning and memory.

"This is a chance where someone's investment can really pay off and they can see the results," she said.

Now five years old, Burdine's daughter Sophie still can't walk or even sit up on her own.  Without a chewing reflex, she is only able to eat pureed baby food.  She is carried everywhere she goes, and still wears diapers.  She also can't speak.

"As much as I love my daughter's smiles and her giggles, I want to get rid of the seizures; I want her to be able to eat real food; I want to be able to talk to her: simplistic things that would be profoundly important for making her life better."

To learn more about AS, and how you can help, visit CureAngelman.org.

Origninal source: http://news.yahoo.com/s/yblog_newsroom/20110524/sc_yblog_newsroom/angelman-syndrome-close-to-a-cure

Daughter inspires parents to build inclusive park

Inspiring Kelly Meissner plays with her daughter Kate, who has Angelman syndrome, at their Elmira home, Thursday.

Mathew McCarthy, Record staff

ELMIRA — Kelly Meissner decided she needed to do something good with all the anxious energy after her baby daughter was diagnosed with a severe genetic disorder, rather than getting mired in bad thoughts.

Her daughter Kate was a shining example of that positive approach.

“To Kate, she’s completely normal,” Meissner said. “She’s happy and loves her life.”

Meissner wants her daughter to be able to enjoy simple childhood pleasures regardless of her disability, inspiring her to raise money to build a park accessible to all children in the family’s hometown of Elmira.

Under the banner Kate’s Kause, Kelly and Jeremy Meissner have raised about $85,000 in a little over half a year. They hope to raise the estimated cost of at least $150,000 by next spring to have the park ready for the summer.

The play area will include equipment appealing to children of all abilities and special turf that’s easy to navigate and safe for disabled children.

Kate, who’s just shy of her second birthday, has Angelman syndrome. The rare genetic disorder causes severe developmental delays and neurological problems.

Limited speech, sleep disorders, and trouble with movement and balance are common symptoms.

While there’s no specific therapy for the syndrome, medical treatment is usually required for seizures. And various forms of therapy, including physical, occupational and communication therapy, can help a person develop as many skills as possible.

“It’s a pretty upsetting and severe diagnosis,” Meissner said.

Kate’s parents noticed in her first few months that she was lagging behind other children and not reaching such milestones as crawling, sitting and eating solids when expected. Meissner researched possible causes, but that didn’t prepare her for the doctor’s prognosis last summer.

“We were pretty shocked, but she’s still our girl, so we’re trying to do our best to cope,” Meissner said.

Life with a disabled child can be difficult, and the Meissners grieved about losing the future they had imagined for their daughter and family. Meissner still finds it tough knowing Kate will probably only ever say a few words.

“It’s those little day-to-day things that are the hardest for me,” she said.

But she said they’ve also learned valuable lessons from Kate. One life-changing realization came when the Meissners, including Kate’s older brother Jamieson, enjoyed a day at Marineland like any other family.

“It’s not so bad to be special,” Meissner said.

Kate is a fighter who struggles, but keeps working to do ordinary things like crawling and sitting. Once she learned how to crawl on her belly earlier this year, she hasn’t stopped and now she’s crawling on all fours.

“She hardly sits still anymore,” Meissner said.

Every little accomplishment is celebrated. Seeing her progress, helped in part by physical and occupational therapy a few times a week, Meissner is hopeful that one day Kate will walk.

“She’s on Angelman time. She just does everything slow and on her own schedule,” she said.

The couple is determined to treat Kate like any other child, encouraging her and pushing for her to be as integrated as possible. Next fall, Kate is starting at the local preschool.

They want other children and families to appreciate Kate for who she is, too, which drives their efforts to build the inclusive park.

Meissner imagines children of all abilities playing together, just being kids. There she knows Kate will enjoy every minute.

“All she wants to do is live,” Meissner said. “She’s just so happy living.”

Find out more at www.kateskause.com. Kate’s Kause is a finalist in the Keg restaurant’s Thanks a Million contest, awarding $25,000 grants to community projects. Vote at www.thekegthanksamillion.com until June 14.

jweidner@therecord.com

Link to article: http://www.therecord.com/news/local/article/544504--daughter-inspires-parents-to-build-inclusive-park

Tommy's Dad, FAST, and Colin Farrell...

This is a post written by Mike Ross, dad to Tommy Ross. Tommy had Angelman Syndome, and left this earth at the tender age of only 5 years old, due to complications from seizures. Mike, dedicated to his son Tommy,  "has a dream about seizures being cured". He runs a group on Facebook, called Suck Feizures (Stop Seizures Now).

I am putting the text of his most recent post here, but please visit his blog and read more about his fight at Stop Seizures Now. Here is the text of his blog post titled Foundation for Angelman Syndrome Therapeutics: FAST-Colin Farrell's in the House.

There are so many people in the Angelman Syndrome family, that are hoping for a cure, to this condition that is caused by a deletion of chromosome 15. While angels are a joy to live with, due to their magnetic, happy personalities, infectious smiles, and laughter, it would benefit them and their loved ones when that medical breakthrough is discoverd. Notice the "when" and not the "if," because that is for a reason, as the work of Dr. Edwin Weeber and others, with animal projects have proven that Angelman Syndrome can be created and cured at the genetic level. Ten years ago, "if" would have been appropriate, as some of the most intensive research has taken place in the past couple, due to the dedication of doctors and groups like FAST. For those of you whom are not familiar with FAST, it stands for Foundation for Angelman Syndrome Therapeutics. Based out of Illinois, and run by an all volunteer staff that are all parents to a boy or girl with Angelman Syndrome, they've got the passion and the decency to never give up.

It is too late for my son Tommy, who sadly passed away from a seizure related to Angelman Syndrome in 2009. This is the same story for other parents of Angels, who miss their little ones, more than mere words on a blog could express. Yet there are thousands of parents and family members across this globe, which is becoming smaller everyday, that hold out the hope for a cure for Angelman Syndrome, which causes major developmental delays, such as those related to mobility and speech. FAST offers a chance for these parents, as the organization is broken down into a Board of Directors and Scientific Advisory Board. This unique partnership, along with its volunteers, makes it an "effective machine," for new possibilities, including the cure that's around the corner if the necessary funding can be discovered. When you think about the cost versus what it would mean to parents and children everywhere, it is a "drop in the hat," and I cannot stress enough the importance of donating to FAST whatever you can.

Funding goes to help discover new treatments for the cure of Angelman Syndrome, along with helping angels get better medical care. That is the proverbial "win win", and the passion that FAST has cannot be denied. Parents of angels are running races, generating community events, all to help out this efficient organization. Even Colin Farrell, whose son has Angelman Syndrome, has chosen to work with FAST because of this level of dedication. For more information, go to their internet address athttp://www.cureangelman.org/. There you will see a group that is committed to a cure, and you can reach them at 1-866-783-0078. Look at their site, and I am sure that you will be impressed by their endeavor, because a cure for Angelman Syndrome is a reality.

Please visit and donate!

Also, if you want to help Mike in his fight for seizures and his work with the Vanderbilt University's Kennedy Center Angelman Syndrome Program, you can purchase a SUCK FEIZURES, Tommy Collection shirt , and $4 from the sale of every shirt will go to Vanderbilt's program.

Love one another~Yvonne