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The Icing on the Cake?

May 26, 2011 24 comments

Ajay Rochester is a best selling author of 5 books on health and wellness and was host of The Biggest Loser Australia for 4 years. She now lives in Beverly Hills California with her son Kai, has a TV show in development and is currently working on her latest book “247 toothpicks – Living, Loving and Laughing with Aspergers!” You can follow her journey at www.chasingoprah.com

Putting the finishing touches on my son’s birthday cake I realise I have made a huge mistake. No, not misspelling his name, not miscounting the number of candles but making the wrong number of penguins to sit atop theAntarcticasnow scene I have spent the last week making. It has to be seven penguins or it just won’t be the work of love I want it to be.

There won’t be a foot stamping “I want a pony daddy” scene like Veruca Salt in Willy Wonka’s Chocolate Factory but it can mean the difference between a peaceful week leading up to the birthday picnic we have arranged or constant obsessing and begging to make the penguins total seven, more than likely winding up with him making his own out of paper and plasticine, placing it on top, unintentionally bringing the whole cake down – a little like our life in general – beautiful one day, stormy the next!

But, if “fixed”, could go so far as avoiding or at least minimising the inevitable anxiousness and almost guaranteed teary meltdown we always experience moments before any social occasion out of the normal weekly routine not excluding birthdays. It’s like my son has permanent stage fright except that in the words of the late great Shakespeare, “…all the world’s a stage…”

And before the high and mighty perfect parents with perfect children (aka the deluded ones among us) tut tut and say it is all about having discipline and being well behaved I must explain that my son has Asperger’s Syndrome – a high functioning form of autism .

Every kid is different, every day is different, every age changes the way in which it manifests, diet and nutrition can make all the difference one day and do nothing another. There is no “cure”, no antidote, not enough experts, differing opinions, too many sceptics, too much politics, not enough support, way too much ignorance and far too much discrimination from those who don’t get it. And yet if I was given the opportunity to “send him back” and make him “better” I wouldn’t. He is my blessing, my joy, my challenge, more meaningful than any troubles I might ever have, much more important than anything that rises up in my own ego, more precious than any metal I own and exactly as he is meant to be – perfect in his imperfections.

He’s not retarded or slow or dumb, despite having been called all that and more from kids and stupid parents alike (lucky they haven’t seen me reply with my fists!! GRR). He just sees the world differently a little like having blinkers that enable him to only see the world his way.

He loves penguins (thus the penguin cake) because they flap their wings like he flaps his hands uncontrollably when he gets stressed – the official term is stimming but we call it “Pengy hands” in an attempt to embrace all that he is with a healthy dose of humor. If you can’t beat it then have a bloody good laugh about it as often as you can cause when the tough times come there can be some very dark days. We like to BE the light at the end of the tunnel rather than wait for it.

At various times he has sucked his fingers, sucked his hair, sucked his clothes, sucked pens, hated washing his hands, washed his hands obsessively, been water phobic, food phobic and is currently germ-a-phobic. He can’t stand loud noise or bright light, could not touch paper for about a year (that was a tough year at school) and for a year and a half could not touch clothing for two hours after bathing and as such I had to lie him on the floor like a baby needing a new diaper as I slid pants onto my eight year old son, crying inside for the pain, desperation and humiliation I saw on his face. But with a tickle of the tummy and a joke about him always being my baby we turned it into an intimate moment, a few seconds to tell him I love him taking the focus away from what was really going on.

These phases come and go but the list goes on. We had the lumpy sock syndrome for a few years, with Kai frozen in his inability to get his shoes on his feet and get out the door to school crawling under the bed, smashing his head with his foot calling himself stupid and retarded and wishing he could die because in the midst of his disorder he knows it is not “normal” to feel these things.

Knowing him as well as I do, I know (but can’t ever really KNOW!!) the tsunami of fear rising up inside of him every time we do something out of the ordinary including having a birthday party – something every kid talks about year round! Not knowing what the next part of his day will smell or sound like, not knowing how the people will be, what it will look like, what will happen, whether or not he knows their names, how long it will go for, what he is expected to do and what might happen if something goes wrong if he can get there at all…it’s like putting a French speaking professor of science in a room full of Japanese history students and expecting him to teach the class and have the students tested at the end. Most kids would be peeing their pants with excitement whereas my boy wets the bed with fear, still at the age of eleven.

And so, with that old adage of “you have to pick your battles” as a parent of a kid with Aspergers you take that to a whole new level. You give them as much security as you can, as much familiarity as is humanly possible, including making seven penguins on his birthday cake because inside he will be happy all day knowing that that one thing is perfect perfect perfect perfect perfect perfect perfect and therefore gives him the solid foundation he needs to deal with all the other unknown frightening overwhelming factors of that day.

That way when we blow the candles out on the cake we can say, “Happy Birthday!” and mean it!

“In Their Own Words” is a series within the Autism Speaks blog which shares the voices of people who have autism, as well as their loved ones. If you have a story you wish to share about your personal experience with autism, please send it to editors@autismspeaks.org. Autism Speaks reserves the right to edit contributions for space, style and content. Because of the volume of submissions, not all can be published on the site.

Autism in the News – 05.26.11

Scientists Find Molecular Similarities in Brains of Those with Autism (HealthDay)
The symptoms and severity of autism vary widely, but new research shows remarkable similarities at the molecular level in the brains of people with the disorder. Read more.

Prenatal vitamins reduce the risk of autism by half, even more for some higher-risk cases (Los Angeles Times)
Women who reported not taking prenatal vitamins immediately before and during a pregnancy were twice as likley to have a child with autism, UC Davis researchers reported Wednesday. If the women also had a mutation in a high-risk gene, they were seven times as likely to have a child with the developmental disorder, the researchers reported in the online edition of the journal Epidemiology. The study is scheduled to appear in print in July. Read more.

School founder denies he obstructed justice (Dedham, Mass.)
The head of a controversial special needs school denied in court yesterday that he obstructed justice four years ago, yet he agreed to leave his post as part of a deal with prosecutors that will probably lead to the case being dropped in five years. Read more.

Asperger’s Syndrome: High-Functioning Autism to Lose Its Name (ABC News)
Eileen Parker was 41 years old when she discovered her quirky, misunderstood behavior had a name: Asperger’s. The syndrome, which is marked by impaired social interaction and sensory overload, joins other neurological disorders on the autism spectrum. And for Parker, the label came as a relief. Read more.

Autism Speaks still growing, adapting in South Jersey (Phillyburbs.com)
On May 21, Mount Laurel hosted the 10th annual Walk Now for Autism Speaks. Almost 4,000 people were in attendance to show their support by raising funds for research, services, and treatments for those living their lives on the autism spectrum. Top fundraisers were honored on stage and given pins as a thank you for all their hard work during this fundraising season. Autism Speaks was also able to honor the few teams that have been walking for 10 years, since the beginning. Read more.

Autism in the News – 05.25.11

May 25, 2011 1 comment

Road to success: Senior says hard work helps overcome autism (Suwanee, Ga.)
When Zach Kallman was in sixth grade, he hopped onto a riding lawn mower and drove around his Suwanee neighborhood, asking people if he could cut their lawns. Read more.

A little help goes a long way (Australia)
Raising a child with special needs has its challenges but there are educational options that can enhance families’ lives, writes Melinda Ham. Read more.

East Yorkshire man invents dolphin therapy device (UK)
The device, called the Dolphin Dome, uses video screens and the sounds of the sea to recreate the sensation of being in the ocean with the animals. Read more.

In Town column: Billy McLean, who is autistic, has been big addition to Center Stage Jackson’s ‘Little Shop of Horrors’ (mlive.com)
A Google search not only gave Denise Weber a lead on a pair of massive plant props needed for Center Stage Jackson’s production of “Little Shop of Horrors,” it provided Weber, the artistic director, with a puppeteer who knew every line in the musical by heart. Read more.

School opens extension to meet growing demand (UK)
A new teaching block has been opened at an Oxford school to help cater for growing pupil numbers. Read more.


The Journey to Insurance Reform: Next Stop Albany

May 25, 2011 4 comments

This is a guest post by Shelley Hendrix, the Director of State Based Advocacy at Autism Speaks.

On a gray, drizzly Tuesday, I rode an Amtrak train from New York City up to Albany to meet with parents and legislators who want to bring autism insurance reform to the Empire State. As the tracks skirted the Hudson River, I thought how much my son Liam, who has autism, would enjoy this trip. Staring at the view rushing by. Checking out the snack car. Asking a million questions of the conductor or people who just want to listen to their iPods.

Then I wonder why they are going to Albany.

Is what they are doing in the Capitol today just as important to them as this is to me?

It took trains, planes and automobiles to make this day happen…and luckily, so far, no boats. Back home the Mississippi River in my hometown of Baton Rouge was cresting. Families west of me flooded by opened valves in the Morganza spillway. I looked at the Hudson a little differently on this trip – watching it flow along, unobstructed, to the Atlantic Ocean – mighty and unstoppable. Rivers respond directly to their environment generally maintaining their course but occasionally overflowing their banks and destroying everything in their path.

Passage of reform in New York State  is not only incredibly important for New York families of children with autism but a key state for the rest of the country as well. By securing New York, our community sends a clear message to Congress that discrimination against people with autism must end – now. Additionally, it will provide coverage for people who live in states that have not passed reform yet provided they work for a company headquartered here.

For some kids in Utah, Ohio and Georgia, to name a few, relief might be on the way a little early.

I came to Albany to meet with parent advocates and network with other groups to create one formidable force – one mighty and unstoppable river of advocates made up of parents like those who drove up braving the inclement weather and apparently an alligator on the Long Island Expressway.

I also came partly to remind this otherwise progressive state that they have yet to do what 26 other states including Arkansas, Montana, West Virginia and my own home state of Louisiana have done.

The autism community was divided over support for last year’s bill and the river of support was directly affected by the environment. The initiative destroyed as the constituent river forked and flooded the Legislative and Governor office phone lines with calls both in extreme support and determined opposition. In the end, who wants to fund an initiative like this if the community it benefits is fighting about it. In this economy with scare resources, it’s just easier to fund initiatives with a more unified front.

This year though the river is moving along smoothly, staying within its banks. Community leaders from various organizations painstakingly compromised on language introduced one bill this year to move forward in a unified manner. But in order for this bill to become law, New York politicians will need to hear from their constituents. And our voices will have to drown out opposing forces outside the autism community.

Everyone is busy but we hear time and time again from every nook and cranny around the United States that face to face meetings with legislators are the most effective thing you can do for change. Every day the insurance industry has lobbyists who stroll the halls in Albany working against your kids in New York. If you want this bill, with the language the way it is now, you will have to stroll the halls or meet with your legislators when they are back in the district.

After riding on that train on Tuesday, I realize firsthand how hard it is to physically get to Albany. But I also learned that close to 1.5 Million people live in the Albany metro region. To those families, I am calling on you personally to do what you can to get down to the Capitol more regularly during the session. Meet with legislators and their staff. Please be our ground forces for families like yours who live 5, 6, 8 hours away on the other side of the state.

For the rest of New York, you are not off the hook! If you want this I hope over the next month you are prepared to make countless phone calls to support them. Make sure you are registered at www.autismvotes.org!

Everyone gets nervous talking to politicians but don’t worry. If you have never done this before, we will teach you what you need to say and how to do this. We just need to know who is willing to commit to working this bill in the halls of the Capitol over the next six weeks.

If you live in Albany and want to become part of our ground force operations, please email me at Advocacy@autismspeaks.org.

Shank synaptic genes in autism: Human genetics to mouse models and therapeutics

May 24, 2011 10 comments

This is a guest post by by Mehreen Kouser, a Dennis Weatherstone Fellow, and Ph.D. Candidate working with Dr. Craig Powell at the UT Southwestern.

This year IMFAR hosted a Scientific Panel titled “Shank synaptic genes in autism: Human genetics to mouse models and therapeutics” organized and chaired by Dr. Craig Powell. This panel consisted of four presentations starting with the unequivocal role of Shank3 in autism and ending with potential treatment strategies in genetically mutated mouse models of Shank3.

Over the past few years , Shank3 has emerged as the new “it” gene for autism. Current estimates suggest that Shank3 errors account for 0.5-2 % of autism diagnoses making it a major genetic cause of  autism. Several recent human studies have implicated mutations/deletions/duplications in the Shank family of proteins, especially Shank3, to be involved in ASD and 22q13 Deletion Syndrome.  Shank3 is a scaffolding protein that is involved in synapse architecture. Mutations in Shank3 are known to affect synaptic connections between neurons in similar ways to other autism-relevant genes such as neuroligin and neurexin. Thus understanding the role of Shank3 in autism is critical.

The first presenter at this panel was Dr. Catalina Betancur from INSERM in France. Dr. Betancur was a major player in the discovery of Shank3’s relevance to autism.  She carefully detailed all known human mutations, deletions, and duplications published since the first paper on Shank3 mutations in idiopathic autism was published in 2007.She also outlined the case for Shank3 as a major causative gene in the symptoms of the 22q13 chromosomal deletion syndrome known as Phelan-McDermid Syndrome.   In addition, Dr. Betancur detailed the work of her laboratory and others implicating Shank2, another member of the Shank gene family, in autism.

Dr. Joseph Buxbaum from Mount Sinai School of Medicine in New York was the next presenter. His laboratory was the first to publish a genetic mouse model of Shank3 successfully Shank3.  Their Shank3 mutant mouse closely mimics autism-associated mutations in this area of the Shank3 gene.  His work focused on the heterozygous mutation of Shank3 gene as this is the state of autism patients with Shank3 mutations. Characterization of this mouse model, clearly suggests that Shank3 plays an important role in synapse architecture, function, and plasticity. Among the most intriguing findings in his presentation was his ability to reverse the manifestations of Shank3 mutation in brain slices treated with Insulin-like Growth Factor-1 (IGF-1). This gives us the much needed hope that Shank3 mutation models of autism will lead to identification of novel therapeutic targets that can be validated in these models.

Next, Dr. Yong-hui Jiang from Duke University in North Carolina presented his work on a genetic mouse model very similar to that of Dr. Buxbaum’s group, but his focus was the homozygous mutation of Shank3 mutating both copies of the gene. He noted that the Shank3 gene is more complex than originally thought, with potentially having as many as six variants or isoforms. His careful analysis of this mutant model clarified that only a portion of Shank3 isoforms are affected by this genetic strategy.  He identified abnormalities in synaptic connection  morphology in his model.  Moreover, his lab characterized this mouse model extensively on autism related behaviors and found them to be impaired in the social behaviors, repetitive behaviors, communication, motor coordination and learning and memory. These results demonstrate that human diseases can be successfully modeled in mice. The hope is that if we can reverse them in mice, treatments for humans are not far away.

Dr. Joao Peca from Guoping Feng’s lab at MIT in Massachusetts concluded the session by presenting a completely different Shank3 mutation in mice.  He began his presentation by telling us about another synaptic gene called SAPAP3 and showing us its involvement in a repetitive grooming behavior in mice. He showed that SAPAP3 knockout mice continuously groom themselves and that this behavior can be reversed by putting this gene back into the striatum of mice later in life. He also showed that Shank3 is a strong binding partner of SAPAP3 and their Shank3 mutant mice have the same increase in repetitive grooming behaviors.   Like the other Shank3 mutations, this mutant does not affect all forms of Shank3, but may mimic a different human mutation.

This panel set the stage for future advances in the area of Shank3 and autism.  Only 4 years after the initial study implicating Shank3 in autism, we now have at least 3 different animal models and 4 publications on these models.  Although, we may face grave challenges in sorting through the heterogeneity of mutations, deletions, and duplications and their different consequences, these presenters clearly demonstrate that this strategy will lead to identification of potential therapeutic targets that can be readily tested in animal models.

Autism Speaks Co-Founders Bob and Suzanne Wright Receive Honorary Degrees at Saint Joseph’s University

May 24, 2011 3 comments

Autism Speaks Co-Founders Bob and Suzanne Wright received Honorary Degrees at Saint Joseph’s University (SJU) Commencement ceremonies on Saturday, May 14.   The Wrights were recognized for their professional accomplishments, particularly, the vision and leadership in founding and building Autism Speaks – North America’s largest autism science and advocacy organization. SJU awarded honorary degrees to Bob and Suzanne in recognition of their selfless dedication to, and for, others.

During their time on the SJU campus the Wrights visited the university’s new Kinney Center for Autism Education and Support.   The mission of the Center is to provide multi-disciplinary education and research opportunities for students, teachers, professionals, and parents who seek to improve and extend opportunities, outcomes, quality of life and best practices in treatment for people withAutism Spectrum Disorders (ASD). The Center offers services, resources, and information; support and guidance; and tools for public and individual advocacy that contributes to improved autism awareness and care.  Additionally, students who minor in autism education receive hands-on training at the facility.

Here are photos from the Kinney Center and the Graduation Exercises

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 To read the Wright’s 2011 St. Joseph’s University Commencement Address, please click here.

Autism TV… Sort of.

May 24, 2011 8 comments

I recently left my longtime career as a local TV news anchor in Baltimore.  I was there for 21 years and during that time my daughter was diagnosed with an Autism Spectrum Disorder (PDD-NOS).  So,  I thought…hey, wouldn’t it be a natural fit if I could take what I know about telling stories and create a   television show with kids who are all over the “spectrum.”  Programming  that shows children and families, from all walks of life, dealing with the challenges and uniqueness of autism.  And maybe we could give them some help or ideas along the way. And maybe we could educate a mass audience about what makes autism special and why we all should care about these individuals who are all around us.

Well, the big cable channels weren’t biting.  The production companies I contacted weren’t going for it either. I mean, in theory, they liked the idea, but in reality they just couldn’t see it being very appealing for the long haul. Of course, I find the subject incredibly appealing and compelling!

Eventually I thought why not do it myself?  With the help of a very talented videographer, a guy who knows his way around the web, and many supportive friends…we created Real Look Autism. My version of Autism TV.

Real Look Autism is a video resource for anyone touched by autism.  We tell focused and beautifully shot and edited stories about therapies and strategies that are working for children on the spectrum. We look for even the smallest measure of success. Our slogan goes like this: “You tell us something that’s working for you…and we’ll show everyone else”.  So, because we look for what is “working”, our short videos have an element of optimism. And how can you not LOVE these kids, their parents, and the teachers and therapists who are so committed.  We keep it real and we aim to spread some hope and understanding.

Real Look Autism.com, thanks for visiting and watching! We hope you LIKE US on Facebook, spread the word and sign up to find out when we premiere another new video.

And besides… we don’t even run commercials… at least not yet!

-Mary Beth Marsden, Founder of Real Look Autism

Autism in the News – 05.24.11

Developmental Disabilities on the Rise in U.S.
Autism and attention deficit hyperactivity disorder (ADHD) diagnoses are on the rise in the U.S., with one in six children now having these or other developmental disabilities, according to new figures from the CDC. Read more.

Study shows sharp rise in early autism diagnoses (USA Today)
More children aged 3 and younger are now being treated for autism in Massachusetts, a new study finds. One in 129 children in Massachusetts born between 2001 and 2005 was enrolled in early intervention programs for an autism spectrum disorder by their third birthday, according to the study. Read more.

Autism: a mother’s labour of love (UK)
Lorna Wing can recall the exact moment she realised that her daughter, Susie, was different. They were on a train, sitting opposite another mother and baby, also around six months old. The other child pointed at things through the window, glancing back at his mother to check her attention. It was, explains Wing, something that Susie never did. “A cold chill settled over me and I became very worried,” she says. Read more.

Autism Changes the Roll of Grandparents (Autism Keys)
A groundbreaking survey from the Interactive Autism Network (IAN) paints a picture of grandparents assuming a larger role in the lives of their grandchildren with autism. They are often the first to suspect that a child may have autism and once diagnosed they, have their own struggles in coming to terms with it. Some are resilient, while others confess to having a hard time moving through their grief. Read more.

Be wary of questionnaire intended to detect autism (Staten Island, N.Y.)
The Journal of Pediatrics has just released the results of a study that reports on the use of a screening questionnaire that is able to identify early signs of autism and other developmental disorders in children as young as 12 months of age. Read more.

 

Healthy Living

May 23, 2011 17 comments

Welcome to this installment of ‘Topic of the Week.’ These topics stem from submissions from our community. If there is anything in particular that you would like to see featured, please contact us!

Fitness, nutrition, and general health and hygiene are critical components of a full and happy life. Do you have a health and wellness plan? What types of fitness do you or or child engage in? How do you implement health and wellness in the day-to-day?

For more information on Healthy Living, please visit here.

Autism in the News – 05.23.11

Developmental disability on rise in U.S. kids: Why? (CBS News)
Developmental disability is on the rise in the U.S. Between 1997 and 2008, the number of school-age children diagnosed with autism, ADHD, or another developmental disability rose by about 17 percent, a new study showed. Read more.

15,000 Walk For Autism Awareness, Raise $500,000 (The Atlanta-Journal Constitution)
Autism Speaks and Marcus Autism Center held the 5th Annual Walk For Autism Speaks at the Georgia World Congress Center Sunday. The walk received 15,000 participants and raised $500,000 for the two organizations that are dedicated to autism awareness, advocacy, family resources and research. Read more.

‘What happens if I’m not around?’ mother of autistic teenager asks (Canada)
Janet Gan wonders who will care for her autistic son when the day comes that she can’t help him safely get across the street. Read more.

Thousands take steps to fight autism (Atlanta, Ga.)
The push for more research and awareness took a big step forward on Sunday with the 5th annual Georgia Walk Now for Autism Speaks. Read more.

Therapeutic horse riding program in Alexandria has new name, plans activities (Alexandria Township, N.J.)
Dreams Come True Therapeutic Riding program is now called Riding with HEART (RWH) and has many events planned. Read more.

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