Printer Friendly

An in-box full of inspiration Angelman syndrome foundation: it was recently announced that ASF-funded research had uncovered, in more depth, the ways Angelman syndrome affects specific neurological processes that may be needed for memory and learning. The research has also discovered the ways an existing drug compound may help restore these neurological processes affected by Angelman syndrome.

"We were about to give up." Those words of frustration came from a researcher investigating treatments for a little-known disorder called Angelman syndrome. Thanks in part to inspirational messages emailed from an exceptional mother he had never met before, researcher John Marshall did not give up--and thousands of families will be grateful that he did not.

Dr. Marshall, a researcher at Brown University in Providence, Rhode Island, credits Heather Daniel and her daughter Kendal with providing him inspiration to keep pursuing his research despite his struggle for funding. They also gave him encouragement to endure the long stretches of time required to investigate the effects of a compound that could lead to a drug treatment, holding promise for Kendal and other individuals with Angelman syndrome.

When asked what was the most important aspect of his research, Dr. Marshall answered, "My interaction and correspondence with parents. In particular, Heather Daniel and her daughter Kendal Daniel were very encouraging at a stage when we were about to give up."

With much-needed funding from the Angelman Syndrome Foundation (ASF) and other organizations, and ongoing encouragement from Heather, Kendal and other families, Dr. Marshall refused to give up. This led to a breakthrough that has broadened the research community's understanding of Angelman syndrome. One day, his work could lead to important new treatment options.

THEY KEEP ON SMILING

Although struggling with severe developmental delay, lack of speech, seizures and more, individuals with Angelman syndrome are typically known for their seemingly ever-present smiles and their happy demeanors. Some communication is possible, even though most individuals with Angelman syndrome will not develop more than five to 10 words, if any at all. In fact, the symptoms of Angelman syndrome vary in kind and in severity.

Angelman syndrome is a neurogenetic disorder that occurs in one in 15,000 live births, and it was first identified in 1965 by British physician Harry Angelman. Characteristics of the disorder also include moderate to severe developmental delay and walking and balance difficulties. Individuals with Angelman syndrome require life-long care. Needless to say, this care--while given lovingly by thousands of parents--takes a toll. It is a toll that has led Heather Daniel to offer many prayers for Dr. Marshall and his work.

What exactly is Angelman syndrome? What we've learned since Dr. Angelman began his work is that Angelman syndrome is caused by an abnormality in the UBE3A gene. Current research and clinical trials are aimed at discovering how abnormalities of UBE3A cause impairment in neural development. Angelman syndrome is most often diagnosed in children between the ages of two and five. But the earlier the diagnosis, the better, because it helps families get treatment and therapeutics for neural development at an earlier stage.

A recent survey conducted by the ASF found that nearly half the individuals with Angelman syndrome were first diagnosed with another disorder, often autism or cerebral palsy. This is due, in part, to a lack of awareness of Angelman syndrome and its similarity to other disorders. The high number of individuals with Angelman syndrome being misdiagnosed as suffering from autism suggests the importance of generating increased awareness and understanding of Angelman syndrome. In fact, some researchers believe that if Angelman syndrome can be cured, so can autism.

While Dr. Marshall, his colleagues and other researchers around the world continue their work, the first clinic in the nation dedicated to serving the unique needs of individuals with Angelman syndrome was opened in 2012 at the University of North Carolina's Carolina Institute for Developmental Disabilities. A second Angelman syndrome clinic was opened at Massachusetts General Hospital in Boston later that year. The ASF is working with other organizations to open even more clinics throughout the United States.

Although no cure for Angelman syndrome has yet been found, progress has been achieved through clinical trials and other research funded, to a large extent, by the ASF. Specifically, therapies for symptoms such as seizures and others have made significant headway in treating and reducing them or their severity dramatically.

REACHING OUT

Heather Daniel was no stranger to the ASF, having been a strong advocate in her community and assisting with coordinating one of the ASF's National Walk sites. When she first heard about the ASF-funded research that Dr. Marshall and his colleagues were pursuing, she wanted to see if she could link a human face and a child's life to the work that they did day after day. What better way than e-mail?

Her decision to contact Dr. Marshall and send him photographs of Kendal actually was quite welcome by the researcher. He credits Heather and Kendal with giving him much of the inspiration to continue his work. Heather, for her part, was pleasantly surprised that her e-mails had such a strong effect on Dr. Marshall. She even shed tears when she read an article that mentioned their communication and its impact on Dr. Marshall's research.

Recognizing the importance of funding for research, Heather did her part to raise money for the ASF. As she wrote to Dr. Marshall, "We had a BBQ on May 8th, in Kendal's honor to raise awareness for AS. She raised $4,367 plus another $2,000 raised before that day. This money has been sent to ASF."

Dr. Marshall replied, "That's wonderful what you are doing for the Angelman Syndrome Foundation. That must have been a huge BBQ to raise so much money, and you have a lot of great friends. The Angelman Syndrome Foundation will certainly make sure the money gets well spent."

The relationship that developed between Heather and Dr. Marshall is also apparent in a touching exchange of e-mail messages. From Dr. Marshall to Heather: "We are just beginning to test our compound in mice ... We were very lucky to receive funding from the Angelman Syndrome Foundation that is allowing us to do this research ... I have four kids myself and I cannot imagine the ordeal you are going through. But please stay optimistic that a new therapy will become available."

[ILLUSTRATION OMITTED]

In messages from Heather to Dr. Marshall: "I pray for you and your lab daily b/c I know you may be the closest there is to helping my sweet girl, I pray for your strength and endurance as I am sure it cannot be easy. ... I know you feel it's slow but for our family any ray of hope is another prayer answered. Just the fact that things seem to be promising means the world us."

A FOUNDATION FOR HOPE

Much of the pilot funding that gives Dr. Marshall hope and helps him pursue his research comes from the Angelman Syndrome Foundation (ASF). The organization was established as a charitable institution in 1992 by Dr. Charles Williams, a pediatrician, clinical geneticist and researcher. The ASF's mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, advocacy, and support for individuals with Angelman syndrome and their families. The goals of the organization include helping to find treatments and an eventual cure for Angelman syndrome.

Since its founding the ASF has raised nearly $11 million in support of the Angelman syndrome community, with half those funds going directly toward 68 research grants and the remainder providing direct support to those affected by Angelman syndrome.

Since Angelman syndrome shares symptoms with other disorders, including autism, any research progress toward treating and curing symptoms has the potential to positively affect more than 12 million people.

As Dr. Marshall has said, "Certainly what we learn in Angelman syndrome will be applicable to other disorders, such as Rett syndrome, possibly Pitt Hopkins, autismspectrum disorders, Parkinson's, depression, schizophrenia and Alzheimer's."

As part of its educational initiatives, the ASF makes information available through a wide range of materials and resources, including a biennial conference, newsletter and website.

MEETINGS OF THE MINDS

To help coordinate the efforts of Angelman syndrome researchers, the Angelman Syndrome Foundation hosts the annual ASF Scientific Symposium. To be held this year on July 23 and 24, the Symposium is an outstanding opportunity for leading researchers, scientists and doctors from around the world to compare notes and share findings from the latest Angelman syndrome research. The 2013 Scientific Symposium will be held at the Walt Disney World Swan & Dolphin in Orlando, Florida.

[ILLUSTRATION OMITTED]

Complementing the annual ASF Scientific Symposium--and running concurrently with it, from July 23 through July 26--is the ASF Biennial Conference. This gathering draws together families, care providers, therapists, teachers, scientists, researchers and doctors to discuss the latest information on Angelman syndrome and on caring for individuals with Angelman syndrome. It is similar to the relationship between Heather Daniel and John Marshall, but on a larger scale.

Newly diagnosed families and first-time attendees are given special priority at these meetings, but many returning families come back each year for the special camaraderie among those who understand what it's like to care for an individual with AS. The Angelman Syndrome Foundation even provides financial aid to a limited number of families who would not otherwise be able to attend the Biennial Conference.

Complete information on these events can be found at www.angelman.org/.

A BREAKTHROUGH ANNOUNCEMENT

For Heather and Kendal Danieland thousands of others like themit is a good thing that Dr. John Marshall did not give up on his research. In March of this year, it was announced that his ASF-funded research had uncovered, in more depth, the ways Angelman syndrome affects specific neurological processes that may be needed for memory and learning. The research has also discovered the ways an existing drug compound may help restore these neurological processes affected by Angelman syndrome.

"I think we are really beginning to understand what is going wrong. That is what is very exciting," said Dr. Marshall. He was the senior author of this research study that was published in the journal PLoS Biology in January 2012. "I am immensely indebted to the ASF for their research funding, as this study would not have been possible without their support."

Using an Angelman syndrome mouse model, the research team uncovered a signaling breakdown in Angelman syndrome that provides greater clarification about this specific neuronal function of the brain. They found biochemical pathways important in learning processes that are not fully activated in individuals with Angelman syndrome. The research team believes this is what causes specific defects in neuronal communication in the Angelman syndrome brain.

The research team also uncovered the ways an existing drug compound called CN2097 can help in correcting the signaling defects in Angelman syndrome. CN2097 is a compound that is unlikely to be used in patients because it breaks down easily within a few hours, meaning that its beneficiary affects may not be long lasting. However, it may be possible to alter the chemistry of CN2097 to make it, or some form of it, useful as a treatment.

TAKING IT PERSONALLY

Medical research is far from the idyllic, ivory-tower pursuit it may seem to be. In his e-mails to Heather Daniel, Dr. Marshall speaks about the difficulty of finding time to do his scientific work when so much of it is devoted to writing applications for grant funding. Breeding generations of test mice also makes claims on his time and patience. The funding and encouragement of the Angelman Syndrome Foundation is a tremendous benefit--and having the prayers of Heather Daniel on his side and the photos of young Kendal before his eyes, Dr. Marshall has no difficulty at all giving his quest a very personal dimension.

RELATED ARTICLE: The Annual ASF National Walk May 18, 2013

Since it began in 1999, the annual ASF National Walk has raised more than $7.5 million to help fund treatment research, educational programs and support resources for individuals with Angelman syndrome and their families/caregivers.

This year's walk will be held on Saturday, May 18 in 29 different communities throughout the United States. More than 10,000 walkers and volunteers nationwide are expected to come together for this year's event. For more information or to make a donation, please visit www.angelman.org

ABOUT THE AUTHOR:

Eileen Braun is Executive Director of Angelman Syndrome Foundation
COPYRIGHT 2013 EP Global Communications, Inc.
No portion of this article can be reproduced without the express written permission from the copyright holder.
Copyright 2013 Gale, Cengage Learning. All rights reserved.

Article Details
Printer friendly Cite/link Email Feedback
Title Annotation:Sometimes, encouragement comes straight out of the blue
Author:Braun, Eileen
Publication:The Exceptional Parent
Geographic Code:1USA
Date:May 1, 2013
Words:2019
Previous Article:Rally for medical research what's going on in DC, and how does it affect me? If you want your voice to be heard in support of medical research, send...
Next Article:Hello, I'm Eric's mom: as an exceptional parent, I've walked the walk and will share my survival skills and know-how on endless subjects with all of...
Topics:

Terms of use | Copyright © 2017 Farlex, Inc. | Feedback | For webmasters