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11 May

2016 Walk in Utah

2016 Walk Receives Local Coverage in Utah

The Deseret News in Utah published a story on ASF Walk Coordinator, Michelle Gilbert, and her son Aiden.

Aiden Gilbert is a happy 11-year-old from South Jordan. He likes to spend time with his family, and he is very social.

“He is a really fun kid,” said his mother, Michelle Gilbert. “It’s just a real joy to interact with him.”

When he was almost 2 years old, Aiden was diagnosed with Angelman syndrome . . .

See the full Deseret News article here.

20 Apr

UBE3A’s Role in Seizures

Research has answered some questions about UBE3A’s role in seizures

ASF-funded research conducted at Dr. Ben Philpot’s lab at the University of North Carolina-Chapel Hill has answered some questions about UBE3A’s role in seizures in individuals with Angelman syndrome, and also illustrated additional work that needs to be done.

Published in the prestigious research journal, Neuron, the research sought to answer the question: how are seizures affected by where—not just when—UBE3A is expressed in the brain?

The research team, led by Matt Judson, PhD in Philpot’s lab, found that UBE3A loss specifically from GABAergic neurons can cause seizures in an Angelman syndrome mouse model. It was previously unclear which cell classes were relevant, and there were reasons to believe that UBE3A loss in both excitatory and inhibitory neurons was important. The research showed that loss of UBE3A from inhibitory neurons, but not excitatory neurons, is enough to cause seizures. This illustrates that both timing AND location of UBE3A restoration are important in reducing seizures in AS. This is relevant to gene therapy and other treatment approaches. More work needs to be done to determine different cell types and pathways to further understand the link between UBE3A and seizures in Angelman syndrome.

See an article about the research in Spectrum.

Access the full issue (requires paid subscription).

19 Apr

2016 Walk Receives International Publicity

ASF Walk in Mexico City

The inaugural Walk location in Mexico City, Mexico has brought the opportunity to raise awareness on an international level.  An article recently appeared in Miraflores that provided information about Angelman Syndrome and offered the idea that Angelman Syndrome families are not alone in this battle – and this is our opportunity to help.

See the article about Angelman Syndrome in Miraflores.

05 Jan

Our Gift to YOU!

Angelman Syndrome Family Retreat at Center for Courageous Kids

The holidays aren’t over yet! Our gift to you is a family weekend retreat at the Center for Courageous Kids, a camp designed exclusively for children with disabilities and their family members.


“CCK offers an amazing weekend for families to relax and be together … treating all kids, with or without special needs, as equals. We enjoyed the fellowship at meals, swimming, horseback riding, fishing, bowling … And we had a great volunteer to assist us with our kids. We look forward to going back this year!”

– Christi Gould, AS mother who previously attended the camp with her family.
 

 

Here are the details:

  • Thirty — yes, 30! — AS families will have the opportunity to come together for a full weekend of fun, fellowship, acceptance and respite.
  • The camp is designed for the entire AS family to attend together. Children with  AS must be at least five years old.
  • Families will enjoy a number of fun activities, including archery, bowling, canoeing, horseback riding, arts and crafts, and so much more!
  • The weekend retreat goes from Friday afternoon to Sunday afternoon; families must commit to the entire weekend.
  • The ASF is partnering with the Center for Courageous Kids to jointly fund this weekend getaway as a gift to you! Families only need to cover their travel costs to and from camp.

Want to see pictures of families enjoying the camp? Visit the Center for Courageous Kids’ Facebook page!

Don’t miss this incredible opportunity!

Families interested in attending should complete the Family Retreat online application as soon as possible before space fills up, as only 30 families will be able to attend. The Center for Courageous Kids will review all family applications and notify you of your acceptance into the family weekend, at which time more detailed information will be provided.

CAMP INFORMATION

Center for Courageous Kids
1501 Burnley Road
Scottsville, KY 42164

Office of Camper Recruitment
Contact: Alvin Farmer
Phone: (270) 618-2912
Email: alvin@courageouskids.org

 

IMPORTANT DATES

February 1, 2016 – Deadline to Apply for a Volunteer Position
February 15, 2016  – Deadline to Register
April 1-3, 2016 – ASF Family Weekend Retreat

 

VOLUNTEER OPPORTUNITIES

Calling all volunteers who want to attend and help our families! Twelve volunteer slots are available for those who want to help and support families during the weekend retreat in various roles. It’s a three-day commitment including attendance at the volunteer orientation at the start of the weekend. All food and lodging costs are covered; travel to the camp is the responsibility of the volunteer. Center for Courageous Kids provides a complete list of detailed volunteer job descriptions. Background checks will be required.

To apply for a volunteer position contact Kelli Firquin, Volunteer Recruiter at kelli@courageouskids.org and complete the online application.

 

06 Aug

ASF-funded research at UNC published in Cell

Angelman Syndrome Foundation-Funded Research at University of North Carolina-Chapel Hill Leads to Breakthrough in AS- and Autism-related research

Research from the lab of Dr. Mark Zylka, a leading AS researcher and associate professor of cell biology and physiology at the University of North Carolina-Chapel Hill, has made a few exciting discoveries related to Angelman syndrome. The research, which has implications for AS and shed light on many genetic intricacies not previously known about autism, was published today in Cell, a top neuroscience publication—a tremendous accomplishment for the research team.

The team’s research has identified a pathway that regulates the activity of the UBE3A enzyme. If a specific phosphate is attached to the UBE3A enzyme, the enzyme is turned off. If that phosphate is removed, the UBE3A enzyme is turned on. The research published in Cell discusses the implications for Dup15q syndrome, where the UBE3A enzyme needs to be turned off; and for AS, where research needs to both produce more of the enzyme activity, by turning on the paternal copy of the UBE3A gene, as well as turn on the UBE3A enzyme.

“What the exciting work by Zylka and colleagues indicates is that UBE3A levels are (almost certainly) very tightly regulated during development, and treatments designed at restoring UBE3A expression must be undertaken with great care, due to the potential dangers of overexpression and excessive UBE3A activity,” said Lynne Bird, M.D., Professor of Clinical Pediatrics at the University of California-San Diego.

You can click here to read UNC’s press release, which further discusses the research’s implications for autism and Dup15q syndrome.

You can click here to access the full paper in Cell.

The Angelman Syndrome Foundation funded this research in its 2013 research grant cycle. The National Institutes of Health, the Foundation for Angelman Syndrome Therapeutics, and Autism Speaks also funded this research.

Father to climb Mt. Kilimanjaro
22 Jul

Father to climb Mt. Kilimanjaro

Angelman Syndrome father to climb Mt. Kilimanjaro to raise awareness

Kyle Rooney is father to 19-month-old Madden, who was diagnosed with Angelman syndrome at six months old. Until that diagnosis, Kyle and his wife were just like any other family—excited young parents, eager to watch their twin sons grow and prosper. But when Madden received the diagnosis, they became ‘Angelman parents’: scared and overwhelmed at first, learning to adjust to their new reality.

This is when Kyle became exceptional: Kyle will be climbing Mount Kilimanjaro around New Year’s 2016 to raise awareness for Angelman syndrome. From Kyle himself:

Summit 4 AngelmanMy trek to the top of Mt. Kilimanjaro is a small tribute to my son Madden and everyone with Angelman syndrome. Those with AS work tirelessly every day to accomplish simple tasks that most of us surely take for granted like feeding themselves, standing and communicating. Madden lives a life harder than most, but you couldn’t tell by the smile on his face. He doesn’t waiver and he never quits. He’s my inspiration to try to climb Mt. Kilimanjaro, the ‘roof of Africa.’

If trekking up one of the tallest mountains in the world motivates someone to ask me, “Why are you doing this and what is Angelman syndrome?” then I’ve accomplished by goal. Trekking to the summit of Mt. Kilimanjaro is for Angelman syndrome and the accomplishments my son Madden reaches every day.

What is your Summit?

Every single one of us has daily Summits we reach. No matter how big or small, these accomplishments can be inspiring, moving, and even funny.Please share your personal Summit story of accomplishment on Facebook and Twitter and include the hashtag, #Summit4Angelman. It is our hope that we will all find strength, motivation and escape from these stories of hard work, persistence and accomplishment. What is your Summit?

Visit Kyle’s personal blog at www.summit4angelman.com to find out more about Kyle’s journey.

How else can you help?

Kyle’s goal is to raise awareness, and he wants to reach 19,341 people. That’s one new person introduced to Angelman syndrome for every foot that Mt. Kilimanjaro is tall. (Mt. Kilimanjaro is 19,341 feet tall.) With your help in introducing Summit 4 Angelman to as many new people as possible, we can reach that goal!

You can also encourage these newly introduced individuals to make a donation in support of AS research and family support services. Funds raised will be donated to the ASF in support of the AS community and finding a cure.

THANK YOU for your support of Kyle and his goal to broaden awareness of AS across the world!

 

Walking To Find A Cure For Angelman Syndrome
19 May

Walking To Find A Cure For Angelman Syndrome

10,000 People Walk In 35 Cities Nationwide To Find A Cure For Angelman Syndrome

Congressman Todd Rokita (R-IN) enjoys the ASF National Walk in Indianapolis with his wife and two sons, one of whom, Teddy, is diagnosed with Angelman Syndrome.

Congressman Todd Rokita (R-IN) enjoys the ASF National Walk in Indianapolis with his wife and two sons, one of whom, Teddy, is diagnosed with Angelman Syndrome.

Over the weekend, more than 10,000 people marched to raise awareness and funds to support improving the lives of those affected by Angelman syndrome, a severe, neurogenetic disorder often misdiagnosed as autism or cerebral palsy. Families, friends and individuals with Angelman syndrome participated in the Angelman Syndrome Foundation (ASF) National Walk in 35 cities across the country to raise funds to support the ASF, a national nonprofit organization dedicated to advancing the awareness and treatment of Angelman syndrome.

More than $1 million has been raised (in preliminary totals) towards the $1.25 million fundraising goal, with fundraising continuing until the goal is achieved. Individuals are encouraged to donate or help fundraise in support of the Angelman syndrome community.

“We are in awe of the love, support and dedication that everyone who participated in or supported the ASF National Walk expressed for our individuals with Angelman syndrome,” said Eileen Braun, ASF Executive Director, walk founding organizer, and mother of Kaitlin, who has Angelman syndrome. “It is an exciting time in the Angelman syndrome community as research continues to advance and develop treatments as we move closer towards an eventual cure, and more and more services are becoming available to help individuals with Angelman syndrome and their families. Without the support for the ASF National Walk, a number of these advancements would not be possible, and we are incredibly grateful for everyone who is helping us achieve our fundraising goal in support of our loved ones with Angelman syndrome.”

Angelman syndrome is caused by the loss of function of a particular gene during fetal development, resulting in severe neurological impairment present at birth and lasting for a lifetime. Symptoms vary and include severe developmental delays, speech impairments, seizures, walking and balance disorders, and frequent laughter and excitability. While there is no definitive count, it is estimated that Angelman syndrome occurs in one in every 15,000 live births.

The ASF National Walk supports the community’s ultimate goal of finding a cure for Angelman syndrome. Since the event began in 1999, more than 80,000 individuals have participated, raising more than $9 million for the ASF. These valuable dollars fund research initiatives, support services for families and caregivers of individuals with Angelman syndrome, and informational and educational programs for those battling the disorder including families, educators, health care professionals and researchers.

“There is still much work to be done when it comes to meeting the future funding needs on behalf of the Angelman syndrome community and achieving the ultimate goal of finding a cure for Angelman syndrome,” added Braun. “The ASF National Walk is the perfect opportunity to help us reach our goals as a community.”

This year, the ASF National Walk expanded internationally with a new Walk site in Ontario, Canada, which is being held this coming Saturday, May 23. Several other new cities also joined the cause this year as 2015 ASF National Walk sites—Olathe, Kan., International Falls, Minn., Lake of the Ozarks, Mo., Durham, N.C., and Warwick, N.Y, which all held their Walks this past Saturday. The following cities hosted a Walk this year:

Alabama (Huntsville)
Arizona (Tempe)
California (Los Angeles)
California (Sacramento)
California (San Diego)
Colorado (Denver)
Connecticut, (Hartford)
Florida (Orlando)
Illinois (Naperville)
Indiana (Indianapolis)
Kansas (Olathe)
Kansas (Wichita)
Louisiana (Breaux Bridge)
Massachusetts (Boston)
Michigan (Auburn Hills)
Minnesota (Hutchinson)
Minnesota (International Falls)
Missouri (Lake of the Ozarks)
Missouri (St. Louis)
Nevada (Las Vegas)
New York (Buffalo)
New York (Warwick)
North Carolina (Durham)
Ohio (Cincinnati)
Ontario (Canada)**
Oregon (Eugene)
Pennsylvania (Philadelphia)
Pennsylvania (Pittsburgh)
South Carolina (Columbia)
Tennessee (Nashville)
Texas (Dallas)
Texas (Houston)*
Utah (Salt Lake City)
Washington D.C.
Washington (Seattle)

*The Houston, Tx. Walk was held Sunday, May 17.
**The Ontario, Canada Walk will be held Saturday, May 23.

Celebrate Rare Disease Day
23 Feb

Celebrate Rare Disease Day

What is Rare Disease Day?

Approximately 30 million individuals in the United States are affected by a rare disorder or disease. On the last day of February every year, hundreds of patient organizations from more than 80 countries and regions worldwide conduct awareness-raising activities to celebrate Rare Disease Day.

The ASF is honored to celebrate Rare Disease Day with the AS community, Global Genes and all other organizations serving the rare disorder and disease community.
Here’s how you can get involved.

“Care About Rare”

Share your favorite photo of your loved one with AS on social media using these special frames to build awareness of AS and rare disorders, and encourage your friends and family members to do the same—it only takes a few steps! Here are some sample frames:

global jeans

Share Your Family’s Story with Global Genes Community

Share your family’s journey for a diagnosis with Global Genes and the rare disease community. Global Genes shares these family stories through its various channels, including newsletters, its website and social media, to raise awareness of rare diseases and disorders.

Check out the FitzGerald and the Bjorklund families’ stories below, both of whom have a loved one with AS.
Raise Awareness of AS in Your Community

Keep the momentum of International Angelman Day going!

  • Wear your AS- or ASF-branded clothing around town and have conversations with as many folks as possible—and direct them to Angelman.org!
  • Ask your employer, friends and neighbors to set up change jars at their offices, and collect funds for AS research.
  • Change light bulbs to blue—the traditional color for AS awareness—and tell people why!
  • Do a balloon release in honor or memory of our loved ones with AS.

Journey towards a diagnosis: The FitzGerald’s and the Bjorklund’s

The FitzGerald Family

The FitzGerald FamilyDrew was born in 2005 to Brian and Suzie FitzGerald, and he hit all of the usual developmental milestones during his first few months in this world. He was holding his head differently, so the FitzGerald’s began physical therapy, which progressed well and resolved the issue. However, at seven months old, Drew began missing milestones, and they started occupational therapy, still not thinking that anything major was amiss. A few months later, a neurologist tested him for Fragile X syndrome, but that came back negative. An additional few months later, an MRI revealed a minute issue but the doctors were not concerned. At just over a year old, the FitzGerald’s were noticing more developmental delays, and they were referred to a Developmental Pediatrician in Cleveland. This doctor was familiar with Angelman syndrome and after a two-hour visit, she told the FitzGerald’s that she wanted Drew tested for it. At this time, Suzie was pregnant with the family’s second son, Peter. Two weeks after Peter was born, the results came in: Drew was officially diagnosed with uniparental disomy Angelman syndrome, a rare type of Angelman syndrome.

The emotional upheaval experienced by the FitzGerald’s during this time—months of trying to get a diagnosis, then learning the diagnosis while welcoming a second child into the world—may sound familiar to some, but it’s completely foreign to many. Brian Fitzgerald recalls, “When I got the call about his diagnosis while I was at work, I immediately started looking up information online to learn about Angelman syndrome, as we had never heard of it before. I looked at the possibilities and what to expect, and I was devastated and torn-up inside. My son will never be able to do this, or do that. I had an hour-long drive home, and on my way home I realized something…these were things that I wanted for Drew, not things that Drew necessarily wanted. At that point, I realized it will be okay, and that we can and will do whatever we can to make sure Drew reaches his maximum potential, whatever that might be.” The FitzGerald’s also had Peter tested for Angelman syndrome, which came back negative. Though devastated at first, Drew had already been going through various therapies, so the family felt like they were ahead of the game by having already started therapies so young. And a couple months later, within a week of his second birthday, Drew took his first steps—something that some individuals with Angelman syndrome do not accomplish in their lifetime.

Over the years, the FitzGerald’s experienced difficulties getting Drew the right therapies and treatments that he needed, and to this day they are still searching the best practitioners to support Drew. However, Drew continues to succeed in his current therapies and achieve developmental milestones that some thought he would never reach, and his parents never lose faith, hope and encouragement. The FitzGerald’s also took their love for their son a step further: Brian had a group of buddies who play paddle tennis, and over time had built it into a community-wide championship called the Blarney Cup. To raise awareness and support for other individuals with Angelman syndrome, they turned the Blarney Cup into a fundraiser for the Angelman Syndrome Foundation. In 2014, the Blarney Cup raised and donated more than $30,000 to the Angelman Syndrome Foundation, and the 2015 Blarney Cup—taking place on March 6 and 7, 2015—is shaping up to break past records of attendance and funds raised. But the FitzGerald’s never forget the true inspiration behind all of their efforts: Drew, and his ever-present smile.

 

The Bjorklund Family

The Bjorklund FamilyAnika and Sophia Bjorklund, identical twins who are now 6-½ years old, were born premature and spent 25 days in the NICU because of feeding issues. Over time, they were monitored by pediatricians and despite parents’ Francesca and Eric’s concerns that their daughters were missing developmental milestones, the doctors indicated that they were simply “delayed.” Fast-forward 18 months and the girls were diagnosed with cerebral palsy. They were also diagnosed with autism, which remains a diagnosis for the Bjorklund twins. While living at West Point, and while Eric was deployed, Francesca met with a team of doctors there, who suggested they conduct genetic testing to “rule anything out.” The girls had already started a variety of therapies—including physical, speech and occupational—because of the cerebral palsy diagnosis, and they were progressing well physically but not well with fine motor and oral motor skills.

It was then that the diagnosis of deletion-positive Angelman syndrome came back, a couple days apart, for each of the girls. At first, Francesca experienced feelings of frustration and sadness after realizing that she and Eric may not have the “perfect children” they always envisioned. But then, sadness turned to determination and perseverance, as both parents focused on the many positive attributes of the girls—the girls are such happy individuals, and no disability or diagnosis was going to come in Francesca and Eric’s way in providing the twins with a life full of possibilities and experiences. Since the diagnosis rendered little changes to the current therapies the twins were undergoing, the Bjorklund’s focused on their ultimate goal: what should we be doing to ensure our girls reach their full potential?

The answer was simple, according to Francesca: our kids can do what other kids can do; it just takesmotivation, a lot of very, very hard work, and a plan to get there. Francesca surrounded herself with positive people, and connected with the Angelman Syndrome Foundation for resources and to find other AS families in her area, an experience that she says was invaluable during this difficult time of transition and learning. First, because they were twins—two toddlers to carry around rather than just one!—Francesca focused on walking. The girls, by nature, are very determined individuals, and at 2-½ years old, Sophia took her first steps out of her Kaye walker. Two days later, Anika joined her. “Without a hope, a dream, or a vision, you’ll never get there,” said Francesca. “You have to craft that vision, that path, because it is all about options and possibilities and choice. Don’t let anyone tell you that your kids can’t do something—they can, and with the right plan in place, they will.” And it is that mantra that continues to drive the Bjorklund family today, which was again recently tested by the twins beginning to learn to ride bikes at 6-years-old. “Pedal Perfect” became a dream and with the help of AMBUCS, adaptive bicycles were outfitted. As the girls have been learning to ride in the cold winter the glow on the girls’ faces is beyond enormous—it literally lights up the neighborhood, and fills the Bjorklunds with even more hope and promise for the future: the Bjorklund twins, with the right energy and support from their parents, are driven to excel at anything they put their minds to.