Father to climb Mt. Kilimanjaro
22 Jul

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

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

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.

13 Feb

ASF-Funded Research Illustrates Promise for Treatments for AS

The Angelman Syndrome Foundation (ASF) joins the international Angelman syndrome community in celebrating International Angelman Day on Sunday, Feb. 15 as ASF-funded research continues to make headway in identifying potential treatments for Angelman syndrome. Angelman syndrome is a severe, neurogenetic disorder related to and often misdiagnosed as autism and cerebral palsy that occurs during fetal development and lasts for a lifetime. While there is no definitive count, it is estimated that Angelman syndrome occurs in one in every 15,000 live births.

“We have much to celebrate during this year’s International Angelman Day,” said Eileen Braun, executive director of the ASF and mother to Kaitlin, who is diagnosed with Angelman syndrome. “Past and current ASF-funded research gives us hope that one day our loved ones with Angelman syndrome will have a better ability to overcome many of the challenges they currently face. Furthermore, successful Angelman syndrome research delivers hope to an even broader community of individuals because of Angelman syndrome’s genetic connection to several other disorders, including Prader-Willi syndrome and autism.”

Most recently, ASF-funded research conducted by Dr. Art Beaudet—a prominent Angelman syndrome researcher—at Baylor College of Medicine continues to move closer towards potential clinical trials, a tremendous beacon of hope and promise for the Angelman syndrome community. Research in ongoing but pre-clinical trials in mice have proven that symptoms of Angelman syndrome can be reversed, though more testing is needed to determine exactly how the cognitive deficits associated with Angelman syndrome are recovered.

Individuals with Angelman syndrome experience a variety of symptoms, including severe developmental delays, speech impairments, walking and balance disorders, and frequent laughter and excitability, though symptoms vary from individual to individual. More than 80 percent of individuals with Angelman syndrome experience seizures, which can be life threatening. While research such as Dr. Beaudet’s and others’ has shown potential to reverse symptoms of Angelman syndrome, past ASF-funded research has already proven successful in reducing symptoms or their severity, including Dr. Ron Thibert’s low-glycemic index treatment for seizures conducted at Massachusetts General Hospital and Dr. Jane Summers’ research proving improvements in neurodevelopmental outcomes from behavioral intervention.

ASF-funded research at the University of North Carolina-Chapel Hill, led by Dr. Ben Philpot and Dr. Mark Zylka, is also continuing to make headway in learning more about the Angelman syndrome gene, UBE3A, and how it interacts with an FDA-approved drug to potentially reverse symptoms. Their research also has implications for autism and chemotherapy treatments, as recently reported in the News & Observer in Raleigh, N.C. See additional promising ASF-funded research.

“Our goal is to better understand the genetic intricacies of Angelman syndrome so we can develop treatment strategies to help individuals with Angelman syndrome live a better life,” said Philpot. “ASF pilot funds have led to million dollar grants for Angelman syndrome research from the Simons Foundation and the National Institute of Health, and we continue to make headway because of the support of the ASF and the Angelman syndrome community.”

Later this year, the ASF will be awarding its 2015 ASF Funded Research Grants, providing more than $1 million to Angelman syndrome researchers to further our understanding of Angelman syndrome with the ultimate goal of finding a cure. In honor of International Angelman Day on Feb. 15, the ASF is asking for “$15 for the 15th” specifically in support of Angelman syndrome research.

30 Jan

AMC Hosts Sensory-Friendly Films in Partnership with Autism Society

AMC Theatres brings sensory-friendly films to families affected by autism and related disorders, such as Angelman syndrome, on a monthly basis to select communities. The Sensory-Friendly Films program provides a special opportunity for families to enjoy their favorite films in a safe and accepting environment. The auditoriums dedicated to the program have their lights up, the sound turned down, and audience members are invited to get up and dance, walk, shout or sing!

Films include the latest releases and other films, and are typically hosted once a month at nearly 100 theatres across the country. All showings are at 10:00am local time on Saturdays.

See the schedule of upcoming films and participating AMC theatres.

08 Dec

Research Investigates Health Issues in Adults with Angelman Syndrome

Dr. Ron Thibert, the well-known Angelman syndrome clinician and champion of the low-glycemic index dietary seizure treatment, and Dr. Anna Larson, both of Massachusetts General Hospital, published the findings from their clinical investigation into health issues that adults with AS experience.

The research team conducted standardized phone interviews with caregivers for 110 adolescents and adults with AS aged 16 to 50 years old. The impact of age, gender, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated, but did not address treatment. Further work should continue to refine the observable characteristics of older individuals with AS. Primary areas of clinical management identified in this research include seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.

The following is a summary of their findings.

Active Seizures

  • Present in 41% of individuals
  • Epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood

Sleep Dysfunction

  • Present in 72% of individuals
  • Late-adolescent and adult sleep patterns are improved when compared to the degree of sleep dysfunction present during infancy and childhood
  • However, prevalence of poor sleep in adults remains quite high

Significant Constipation

  • Present in 85% of individuals

Overweight / Obesity

  • Present in 32% of individuals, with obesity disproportionately affecting women

Scoliosis

  • Affects 50% of individuals with an average age of diagnosis at 12 years old
  • 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men

Walking

  • 68% are able to walk independently

Speaking

  • 13% are able to speak 5 or more words

Self-Injurious Behavior

  • 52% of individuals exhibit self-injurious behavior

Click here to access the American Journal of Medical Genetics paper.

 

01 Dec

ASF-Funded Research Discovers Possible Therapeutic for Angelman Syndrome

Promising ASF-funded research continues to move closer toward possible clinical trials, as announced today in a paper in Nature by Dr. Art Beaudet and his research team at Baylor College of Medicine.

The ASF funded this research in its 2011 and 2013 research grant cycles, as part of its $8 million and growing investment in AS research with the ultimate goal of finding a cure for AS.

More research will be conducted but pre-clinical trials in AS mice have proven that the paternal copy of Ube3a can be activated and that AS symptoms can be recovered, though more testing is needed to determine exactly how the cognitive deficits associated with AS are recovered.

Dan Harvey, chairman of the ASF’s Scientific Advisory Committee, has interpreted the research for AS families and developed the following summary about the research.

Background
Neurotypical individuals have two versions of the Angelman syndrome gene (UBE3A), one from their mother (the maternal copy) and one from their father (the paternal copy) but only the one from the mother is expressed or “active.” In Angelman syndrome, the maternal copy is missing (deleted) or altered in some way to render it inactive. In 2008, Goal #1 of the ASF Research Roadmap was to aggressively explore activation of the silenced or “inactive” paternal copy of the AS gene (UBE3A) as a potential treatment for Angelman syndrome. The studies described in this article for Nature are the culmination of those efforts.

Summary
Recent studies by Philpot and colleagues demonstrated that Topotecan, a natural product derivative with various uses, unsilences the paternal copy of the AS gene in a non-specific manner. In this new article for Nature by Dr. Beaudet, Dr. Meng and their colleagues, it is demonstrated that a small DNA analog, known as an antisense oligonucleotide or ASO, can interact with the paternal copy of the AS gene and unsilence it in a highly specific manner.

Initial studies done with isolated neurons demonstrated that treatment with an ASO causes a long-lasting unsilencing of the paternal copy of the Ube3a gene.

Subsequent studies were done with AS mice. The ASO was directly injected into the brain of an AS mouse via a technique known as ICV (intracerebroventricular) injection. The ASO was well tolerated and partially unsilenced the paternal copy of the Ube3a gene. Additionally, it was highly specific for the AS gene, with no impact on other genes. Its activity was long lasting with unsilencing still observed sixteen weeks after treatment. When injected directly into a specific region of the brain know as the hippocampus, the part of the brain that manages cognition and learning, complete unsilencing of the paternal Ube3a was observed in the vicinity of the injection site.

Four weeks after treatment, AS mice treated with an ASO were subjected to behavioral testing and several of the behaviors typically observed in AS mice were reversed. In particular, memory impairment observed with AS mice was reversed after treatment. More extensive reversal of AS characteristics may require treatment at a younger age, a longer recovery time after treatment to allow greater rewiring of neural circuits, or a higher dosage of ASO.

In conclusion, the paper states: “Well tolerated delivery, broad tissue distribution, and long duration of action sets a framework for ASOs as a viable therapeutic strategy for diseases of the CNS (central nervous system), and builds enthusiasm toward further optimization and development of an ASO treatment for AS.”

View information about this study on Nature Journal of Science website. 

17 Nov

PNAS Paper shows ASF-funded Research at UNC Making Progress

The ASF continues to lead the charge in funding research that is making progress towards treatments and ultimately a cure for Angelman syndrome, having invested more than $8 million during the past decade in promising AS research.

A paper published today in the Proceedings of the National Academy of Sciences by Dr. Ben Philpot, Dr. Mark Zylka and Dr. Angela Mabb at the University of North Carolina at Chapel Hill uncovered additional findings about the Angelman syndrome gene, UBE3A.

Background

Neurotypical individuals have two copies of the Angelman syndrome gene (UBE3A), one copy inherited from their mother (the maternal copy) and one from their father (the paternal copy).  Only the maternal copy of UBE3A is “active” in neurons, thus mutation or deletion of this copy is sufficient to cause Angelman syndrome. The primary goal of the 2008 ASF Research Roadmap was to aggressively explore activation of the silenced or “inactive” paternal copy of UBE3A as a potential treatment for Angelman syndrome.

Summary

Recent studies by Dr. Ben Philpot, Dr. Mark Zylka, and Dr. Angela Mabb and their colleagues at the University of North Carolina at Chapel Hill demonstrated that Topotecan, a natural product derivative typically used to treat cancer, can unsilence the paternal copy of UBE3A. Topotecan thus represents a potential treatment for Angelman syndrome.  However, it is essential to understand the potential side effects and the impacts of using Topotecan on brain function before moving into clinical trials.  Accordingly, the studies described in this article from the Proceedings of the National Academy of Sciences continue the research group’s previous research in an effort to determine the consequences of using Topotecan or similar inhibitors in the brain.

The team took a step back from the mouse model and used an in vitro model, or neurons in a petri dish, because this provides a system to reliably and consistently deliver Topotecan to neurons.

This article illustrated that when neurons were treated with Topotecan, the goal of unsilencing the paternal copy of UBE3A was accomplished. However, during treatment, the neurons experienced a complete shutdown of activity—UBE3A was activated, but the specific cells that were treated stopped communicating with each other. However, normal neuronal activity was quickly restored once Topotecan was removed.  This result is exciting because it suggests that most treatment side effects are likely to be fully reversible.

A goal of the research is to find a treatment strategy that can provide long-term UBE3A unsilencing, as was observed with their previous research, such that the side effects of Topotecan can be completely recovered in the short-term, as was observed in the current study.

The next step to this research is to identify novel and more efficient delivery methods using Topotecan or other inhibitors like Topotecan in an AS animal model to unsilence UBE3A, to evaluate potential side effects of these treatments, and to see if Angelman syndrome symptoms in the mouse model can be reversed following drug treatment.
Click here to access the PNAS paper.