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Acid Reflux | Adult Guardianship | Adult Programs | AdvocacyAFO Angelman SyndromeAngelman Syndrome FoundationAngelman Today | Animals | Anxiety | Ataxia | Audrey Angelman | Autism-like Features

 


Acid Reflux

Our son’s acid reflux became worse as he got older.  He finally developed a gastro bleed incident and was started on Nexium, which he takes now to avoid a recurrence.  He gags easily and tends to vomit when he has nasal discharge into his throat.
Susan Pike

The last couple of years have been difficult with our daughter being admitted to the hospital here and there. She has had problems with digestion and has been diagnosed with gastroparesis. Smaller and frequent meals seem to help. We give her no carbonated drinks or acidic food. I am wondering if anybody else has had these issues. Our daughter is thirty-two years old.
Linda Cox

Our son had reflux when he was born until he was five months old. He slept with a special pillow during that time and I also used a special kind of formula called Similac Allimentum.
Brisia Barba  Chihuahua, México, angel Mario, age 9

Some parents of angels use medications to treat GERD (gastroesophageal reflux disease) every morning.  A few examples are: Nexium, Protonix, Prilosec, and Prevacid

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Adult Guardianship

See National Guardianship Association Affiliates by State

Watch the ASF Educational Webinar on Guardianship, presented by Dr. Eric Wright.

On my angel’s 18th birthday we went to court to become our daughter’s legal guardians.  This is a legal necessity with HIPAA and dealing with governmental agencies on our young adults’ behalf. Make SURE to check all designated beneficiaries for all insurance policies etc… so as not to negate any governmental benefits from an inheritance, etc…  This is also where a special needs trust is very beneficial for our angels’ future wellbeing.
Kathy Eichost    Fort Wayne, Indiana   angel Juliana (UPD,) age 28

Here is an example of the need for conservatorship.  Our adult daughter recently had a corneal transplant. Before the surgery, the hospital needed to have a copy of our conservatorship document in order to proceed with the surgery.
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

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Adult Programs

After high school graduation our daughter started going to an Easter Seals ARC workshop.  She works there from 8 a.m.-2 p.m. daily.  There is paid work, job/practice simulations, clubs (jewelry making, crafts, theater, reading, exercise) as well as some free time for socializing with peers.
Kathy Eikost

It is very important for the AS adults to be with their peers. A day program is great and keeps them in a routine.
Martha Emmons

Make sure to thoroughly check availability of services for an over twenty-one year-old AS individual prior to relocating to another state.  I have encountered and am still encountering hurdles due to funding, waiting lists, not enough services available, etc…
Janet and Rick Sutphin Olathe, Kansas  angel Brittany, age 24

Be persistent in searching for an adult education program. We toured several day programs when our daughter exited the public school system at age twenty-two.  None seemed desirable, so we hired someone to come to our home and stay with our daughter while we worked.  Whitney did not like it!  The change was drastic and offered no real routine.  We decided to keep searching and learned that some prior information we had received was inaccurate.  It led us to a wonderful program and our daughter’s life changed for the better. One should never underestimate the persistence and determination of angel parents!
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

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Advocacy

You are your own best advocate here!  Do not stop asking questions. Some of the doctors we now have are a neurologist, a behavioral therapist, a geneticist, a regular pediatrician, a gastroenterologist, a physical therapist, an occupational therapist, and a speech therapist. No one told us we should be seeing some of these doctors.  We had to figure it out on our own.  It really does take a village to raise a child with Angelman Syndrome! Ask questions!
Elise Rice

Be your child’s voice, and fight for what you believe is best.
Mindy McBride

You are your child’s best advocate. You know them better than any professional. If you don’t agree with something, then speak up.
Stephanie Sullivan  Modesto, CA   angel Jeremiah “JJ”,  age 8

Get involved with agencies that offer advocacy.  Attend any free training sessions.  Contact local groups for insight.
Michael Sanderfer

I tell people or children that ask me about my child that he is developing slower, that he is learning every day, and that they can help him.  When he is not welcome somewhere, I try to play with him of course.
Brisia Barba  Chihuahua, México, angel Mario, age 9

Be an advocate for your child in the community. If a “typical” child says or does something kind to your angel, praise the child by saying, “That is so kind of you. You are a very special boy/girl and (your angel’s name) really seems to like you!” Other children will hear that and emulate this kindness.  Use encounters with others as “teachable moments”.  Be a role model. Smile, make eye contact and set the stage for others to approach your angel with ease.
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

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AFO (Ankle-Foot Orthotic)

We struggled with shoes to fit over the AFO’s and could never find anything that worked well. We finally bought a pair of Hatchbacks that are designed to fit over AFO’s. They were more expensive but they lasted a lot longer and were safer for our daughter to wear.
Christine and Giovanni Rompato Logan, Utah   angel Chiara, age 5

My son has to wear braces for the low tone in his ankles. The best AFO’s we have found are Sure Steps, Distributed by Hanger Orthotics. They are cut in a way that allows my son to use the ball of his feet, they are not too rigid, and they fit in most regular shoes (with the inseam removed).
Michelle Ballante

The following appeared in the 1999 edition, Angelman Syndrome from A to Z.
AFO stands for “ankle-foot orthotic”.  Orthotics are inserts for shoes that control abnormal foot function. They are used to realign the arch structure, realign in-toeing and out-toeing problems, and control the foot-ankle complex. AFO’s can help improve mobility and balance. For further information speak with a physical therapist or orthopedist.

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Angelman Syndrome  (see also Diagnostic Criteria)

Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of Ube3a prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored.

Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.

With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Other features can include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Angelman Sydrome is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965. People with AS are sometimes known as “angels”, both because of the syndrome’s name and because of their youthful, happy appearance.

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

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Angelman Syndrome Foundation

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.

We are pleased to report that our organization is in the best financial condition in its history; has marshaled the assistance of a diverse group of world-class researchers; is funding cutting-edge research; and is committed to addressing the needs of its members.

During the two decades of our existence, the ASF has evolved and grown from a small group of concerned parents to a well-funded, well-run research-and-support organization capable of advancing the science and understanding of AS and improving the lives of people with this disorder.

Just as important, we have a clear indication of what is important to our community—a roadmap that we are committed to following.

Research
The Foundation sponsors AS research through grants to researchers who pursue promising avenues of discovery. Since 1996, the ASF has funded 78 research grants totaling over $8 million. The ASF has awarded a majority of these funds ($4.5 million) beginning in 2005.

Education & Information
ASF is a national 501(c)(3) organization dedicated to helping families, care providers and medical professionals arm themselves with as much helpful information about Angelman syndrome as possible. The ASF sponsors a biennial conference. The conference gives you the opportunity to hear the latest research results, therapeutic techniques, educational strategies, long-term planning and financial-planning information. The conference also offers many networking opportunities to talk to families that are dealing with the same issues you might be having while caring for an individual with Angelman syndrome.

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Angelman Today

Angelman Today: A Global Perspective on Angelman Syndrome


Mission Statement:

Angelman TodayAngelman Today online magazine is the first and only publication of it’s kind.  Our articles feature information that we hope will revolutionize the current care and standard of practice for the treatment and education of those affected by AS. Angelman Today offers every Angelman Syndrome Foundation across the globe the opportunity to submit articles so that we are all able to benefit from the brilliant minds of those involved in the care, research and treatment of those affected by AS.  Additionally, we are a media outlet designed to support entrepreneurial angel families who are looking to reach out to the community and share their innovative products and services.  We will also bring you advertisers that offer the BEST products and services available for people with special needs.  As parents of children with Angelman Syndrome who have been able to improve the health and cognitive abilities of our children via implementation of clinically researched therapeutic diets; we feel that it is our right, privilege and responsibility to bring these treatments and more to the forefront of the collective consciousness of the AS community. We believe that viable, effective treatment options and educational opportunities exist and are being successfully implemented around the world today.  We embarked on this project to put the best and brightest from around the world at your finger tips.

Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2013 Angelman Today, LLC. All rights reserved worldwide.

If you already haven’t, go to the amazing Angelman Today website to register for a FREE subscription!

Facebook:  https://www.facebook.com/angelmantoday

Twitter: https://twitter.com/angelmantoday

Three cheers for Lizzie Sordia, Editor in Chief and Publisher of Angelman Today!

Lizzie was born and raised in California. She married her high school sweetheart and moved to Florida, where they now live with their two boys Braden and Nathan.  Nathan was diagnosed with Angelman Syndrome shortly after his second birthday.  After battling many seizures Lizzie decided it was best to leave her career in corporate America and end her privately owned family publication to care for her son.  She has become very involved in the Angelman community by hosting the annual walk for the Angelman Syndrome Foundation in Orlando, doing fundraisers for the Foundation for Angelman Syndrome Therapeutics and participating with Weeber labs.  Today, Nathan is a much happier and healthier boy, making improvements everyday.  She believes her son is not his diagnosis; he is so much more and so are all the other children with Angelman Syndrome.  Angelman Syndrome is a part of Nathan, but will not define him or his future abilities.  It is Lizzie’s goal to create an easily accessible global Angelman Community because she believes we can all learn from each other and encourage one another on our journey.  Contact: Lizzie@angelmantoday.com

Lizzie, speaking on behalf of the Angelman community, we applaud and appreciate your efforts! The magazine is beautiful and informative! 

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Animals

Our vet recommended that we de-claw our aggressive cat since she can be scratchy. We did and it was a good decision.  We have to be careful around dogs because our daughter will try and “pet” them by hitting them, pulling their ears, etc.
Christine and Giovanni Rompato  Logan, Utah  angel Chiara, age 5

We trained a Golden Retriever to track our Angel.  This gave her a bit more freedom to roam on our seventy-five acre farm. The dog also travels with us and adds a bit of security in unfamiliar settings.
Pam Wilson

My angel thinks it’s funny to aggravate a dog to the point where the animal will gently snap at him. Clearly this is extremely dangerous, but we find most dogs to be extremely patient with him. Our two family pups both went over to our angel (JJ) and sat right next to him during the “meet and greet” of the adoption process. Families should be offered a dog upon diagnosis, not only for companionship, but for clean up duty after and during mealtime! J
Kathleen Manke

Our 4 year-old can be very “grabby” and he doesn’t know his own strength.  The animals we found most comfortable with our son are therapeutic ponies.
Rosa Slack

We have a small dog that Elizabeth really likes. Lately they’ve been more in-tune with each other; although there has been some ear pulling! The dog is patient with her, which is a good thing!
Sandy Blagg  Grayson, Georgia angel Elizabeth, age 13  Del. +

Make sure that any animals around your child with AS are friendly and calm. They need to be tolerant of hair/ear/tail pulling, and also tolerant of food being taken away.
Rachel Brewer  N. Little Rock, AK  angel Ava,  age 4

We have two Australia shepherds. Our son, Kevin likes to sit in my armchair where the dogs expect to be petted. I observed Kevin several times starting to pet the dogs and eventually he grabbed their hair. I like for Kevin to connect with the dogs, so whenever I see Kevin reaching out for the dogs, I hold his arms by the wrists and guide him in a smooth patting motion. I make effort to keep my dogs out of Kevin’s reach whenever I cannot supervise.
Andy Goldberg

We got my daughter a German Shepherd.
Sorayda Martinez

We have had two golden retrievers through the years, and our AS child is now an adult. We have found the dogs to be exceptionally attentive and protective.  Our daughter learned to pet the dogs gently and not pull the dog’s fur, ears, or tail. This has been a very rewarding experience!
Janet and Rick Sutphin Olathe, Kansas angel Brittany, age 24

My angels don’t really understand to be kind to animals, like cats and dogs. But they love to try to interact with them.  As long as they are monitored to avoid getting bit or scratched it is great fun!

Melissa Jones  Cortland, Ohio  angels:  Andre, age 15, Christina age 14, Ryan age 13 and Ashley age 12.
Melissa, you are our inspiration!  Melissa and the angels’ father also have two other typical children.

Service animals can provide invaluable assistance to individuals with Angelman Syndrome.

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Anxiety

This is an important topic and additional contributions are needed!

For many years we were adamant that seizure medication would be the only drug our daughter would be given.  However, as years passed we realized that her severe anxiety was truly disrupting our daughter’s ability to function and engage in everyday life.  After speaking to her neurologist and other AS parents, we decided to give the medication Klonpin a try.  The low dose is given twice a day:  before she leaves for her adult program and before she goes to sleep at night.  (We do increase the dose slightly for air travel.)  Her life has changed for the better!  She continues to have episodes of anxiety (of course) but the anxiety is much milder, short-lived and less frequent.  She is more content now and better focused. Looking back, we regret that we put our own misguided stubbornness ahead of what was best for our daughter.
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33 

Some parents have tried SSRI (Selective Serotonin Reuptake Inhibitors) medications to treat their angel’s anxiety.

Some examples of the antidepressant/anti-anxiety medications are:

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Ataxia

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/411/viewFullReport

An early finding in most children with Angelman syndrome is a movement or balance abnormality that includes jerky movements due to an inability to coordinate voluntary movements (ataxia).

Children with Angelman syndrome may hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited. Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia) may also occur. Some children with Angelman syndrome experience subtle tremors of the arms and legs. These movement disorders may be apparent early during infancy (approximately 6-12 months of age). Motor milestones (e.g., walking) are usually delayed. In mild cases, children may begin to walk at 2-3 years of age. In more severe cases, walking may be noticeably slow, stiff and jerky. Some children may not be able to walk until they are 5-10 years of age. In approximately 10 percent of cases, children with Angelman syndrome do not walk unaided.

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Audrey Angelman

Audrey Angelman - graduation  audrey-angelman_cruise2  audrey-angelman_cruise

 

 

 

 

 

 

 

 

Audrey Angelman
February 2, 1936 – August 15, 1999

The breaking of that awful feeling of isolation is the greatest gift one Angelman family can give to another…. Those of you who will share your experiences will do it because in the Angelman family that is what we do.  Whatever problems you have to meet, others not only understand but have found a solution.  Whatever road you have traveled, others have traveled before you, so there is no need to travel alone.”  Audrey Angelman

Tribute by Dr. Joe Wagstaff, April 2000
Audrey Angelman felt that children with disabilities and their parents suffer as much from isolation and lack of communication as they do from the disabilities themselves. One of her great gifts was for communication, and she put an enormous amount of time and effort into trying to end that isolation for AS families.  She felt that communication between AS families provided the great emotional relief of knowing that someone else had been through the same experiences and joys and heartbreaks.  She also knew that mothers, fathers, brothers and sisters, grandmothers, grandfathers, and cousins of AS individuals find solutions to problems that would never occur to therapists or physicians. Angelman Syndrome from A to Z is a perfect expression of Audrey’s desire to bring AS individuals and their families together, to share solutions to problems where they exist, and to provide support and comfort when the problem hasn’t been solved yet.

Biographical Information by Mrs. Pam Kempt, niece of Audrey Angelman
Daughter of Jean Walsh, Audrey’s older sister
1999

Audrey Stuart Angelman was the younger daughter of Mr. and Mrs. A.S. Taylor.  Audrey was educated at Merchant Taylor’s School for Girls Crosby, Liverpool. During her time at school she was junior tennis champion and won two awards for public speaking. Audrey was awarded scholarships and attended Liverpool University where she achieved BA and B Ed degrees.  Audrey was an accomplished pianist, organist and writer.

She became Deputy Head of the King David School, Liverpool where she was highly respected.  Audrey wrote and composed the school song and formed the school choir.  Audrey later left the King David School to take a position as a lecturer at St. Katherine’s College, Liverpool.

In December 1964 Audrey married Dr. Harry Angelman who was a pediatrician at Warrington Hospital.  At the time, Harry was working on identifying the very early stages of a condition that would later be named for him, Angelman Syndrome. After Harry’s passing, Audrey worked very hard for the Angelman Syndrome Foundation and successfully established her dream of an International Angelman Syndrome Organization.  Through her travels she met many children with Angelman Syndrome along with their parents and relatives. Audrey kept all the letters she received and made a point of personally replying to each one.

Sadly, Audrey passed on August 15, 1999 in England after a brief illness.  She faced this illness with her usual stoicism and wry sense of humor.   That autumn, the Angelman Syndrome Foundation announced the creation of the “Harry and Audrey Angelman Award” in their honor.  The award recognizes an individual or group who have demonstrated a strong commitment to enhancing the awareness and understanding of Angelman Syndrome.

Anecdote by Alice Evans, mom of angel Whitney, age 33
In 1997 Audrey stayed with us for a few days in our San Diego home. It was the year after Harry’s passing and immediately after the 1997 ASF Seattle Conference. It was very important for those who planned the Seattle conference to make sure that Audrey felt she was still a vital part of the ASF and the Angelman community.  Audrey was scheduled to host the “Ask Audrey” session, and I sensed beforehand that Audrey was worried no one would want to attend.  I can’t tell you how pleased she was when the entire room began to fill!!  Of course, she included Harry in every response she gave no matter how specific the question was about her.

While she was at our home, I taught Audrey how to use email. I asked members of the Angelman Listserv to email Audrey on that particular day.  Imagine her surprise when dozens and dozens of emails began popping up!  She was so thrilled and we printed each one.  At breakfast the next morning she had the huge stack of printed emails in her hand.  Audrey confessed that she had been up all night reading them over and over again!  Audrey and Harry never had children of their own, but they most certainly considered all of the angels and their families to be “theirs”. 

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Autism-like Features

ANECDOTE:
Twenty years ago I had a student in my classroom with autism.  Even though he was quite different than my angel, I did notice some similar features, such as arm flapping, hyperactivity, difficulty altering routines, communication challenges, sleeping problems (as reported by his parents), attention issues and more.  I was told repeatedly that there was no connection between Angelman Syndrome and autism.  However, I was convinced that there just might be a link.  (This was a time when immunizations, along with other theories, were suspected as being a cause for autism.) My daughter is Deletion Positive and now it is thought that children who have a large deletion like her, labeled Class 1, do have some features of autism.  My take away from this is that we parents do have some unique insights when it comes to our children.  Keep speaking up!  You might be onto something!
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

I greatly enjoyed reading the following books along with several others.  They offered a tiny window into my daughter’s thinking and behaviors.
The Autistic Brain  by Temple Grandin and The Reason I Jump  by Naoki Higashida
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

Here is a link to a research study by Sarika Peters, PHD at Vanderbilt University in which autism features in Angelman syndrome, Rett Syndrome, or MECP2 duplications are being investigated.  http://vkc.mc.vanderbilt.edu/studyfinder/263

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