Rett Ramblings

Laura Marie Battistone

Laura Marie Battistone
(November 18, 1984 - April 13, 2009)

http://www.bennettfuneralhome.net/index.cfm

Laura Marie Battistone, age 24, of Rochester; departed this life suddenly on April 13, 2009 at 1:29 a.m. in Beaumont Hospital, Troy, from complications of Rett Syndrome.

She was born November 18, 1984 in Toledo, OH, the loving daughter of Janine Battistone of Rochester, MI and Ray Battistone of Monroe, MI. Dear sister of Lindsey Wiest (Chris) of Grand Forks, ND; Precious grand-daughter of Joan Tremp of Milan, MI, Nat and Stella Battistone of Monroe, and Hugo Schneider of AZ. Laura is also survived by many loving aunts, uncles, cousins, neighbors, and special friends, including Greg Long, Sterling Long, and sister of heart Lydia Long.

She had a pure spirit and taught others that true life success is found in caring for others. She was a friend to all, particularly the myriad of God’s creatures. She gratefully appreciated those who served her needs, including many special nurses, doctors, therapists, couriers, pharmacists, and social workers.

Friends may visit Thursday from 3:00 - 8:00 p.m. at the Monroe location of Bennett-Prochnow Funeral Home. She will lie instate from 9:00 a.m. until Mass of Christian Burial 10:00 a.m. at St. Mary Catholic Church, Father Marc Gawronski, pastor of the church will officiate. Entombment will follow in Roselawn Memorial Park. A memorial service will be held at a later time in Rochester.

Rett Syndrome: a U.S. Social Security disability "fast-track" condition

Michael J. Astrue, Commissioner of Social Security, announced on October 27, 2008 the national rollout of the agency’s Compassionate Allowances initiative, a way to expedite the processing of disability claims for applicants whose medical conditions are so severe that their conditions obviously meet Social Security’s standards.

“Getting benefits quickly to people with the most severe medical conditions is both the right and the compassionate thing to do,” Commissioner Astrue said.  “This initiative will allow us to make decisions on these cases in a matter of days, rather than months or years.”

Social Security is launching this expedited decision process with a total of 50 conditions, including Rett syndrome.  Over time, more diseases and conditions will be added.  A list of the first 50 impairments -- 25 rare diseases and 25 cancers -- can be found at www.socialsecurity.gov/compassionateallowances.  

Before announcing this initiative, Social Security held public hearings to receive information from experts on rare diseases and cancers.  The agency also enlisted the assistance of the National Institutes of Health. 

Compassionate Allowances is the second piece of the agency’s two-track, fast-track system for certain disability claims.  When combined with the agency’s Quick Disability Determination process, and once fully implemented, this two-track system could result in six to nine percent of disability claims, the cases for as much as a quarter million people, being decided in an average of six to eight days.

"This is an outstanding achievement for the Social Security Administration," said Peter Saltonstall, President of the National Organization for Rare Disorders.  "It has taken Social Security less than a year to develop this much-needed program that will benefit those whose claims merit expedited consideration based on the nature of their disease.  Disability backlogs cause a hardship for patients and their families.  Commissioner Astrue and his staff deserve our thanks for a job well done.”

“Unfortunately, many hardworking people with cancer may not only face intensive treatment to save their lives, but they may also find themselves truly unable to perform their daily work-related activities and as result, may face serious financial concerns, such as the loss of income and the cost of treatment,” said Daniel E. Smith, president of the American Cancer Society Cancer Action Network. “The Social Security Administration’s Compassionate Allowances program will help streamline the disability benefits application process so that benefits are quickly provided to those who need them most.”

“This is America, and it simply is not acceptable for people to wait years for a final decision on a disability claim,” Commissioner Astrue said.  “I am committed to a process that is as fair and speedy as possible.  The launch of Compassionate Allowances is another step to ensuring Americans with disabilities, especially those with certain cancers and rare diseases, get the benefits they need quickly.”

Source: http://www.ssa.gov/pressoffice/pr/compassionate-allowances-1008-pr.htm

Dr. Adrian Bird serves as trustee of Rett Syndrome Research Trust

Dr. Adrian Bird, Ph.D., renowned MeCP2 researcher and former chairman of the Rett Syndrome Research Foundation (RSRF) scientific advisory board, is now serving as a trustee for the Rett Syndrome Research Trust (RSRT) organization, according to this biographical page on the Wellcome Trust website.

In 2007 Dr. Bird and RSRT co-founder Monica Coenraads announced on behalf of RSRF the landmark results of a study where symptoms of Rett syndrome were reversed in a genetic mouse model. After the 2007 merger of RSRF with the International Rett Syndrome Association (IRSA) Coenraads left the newly created International Rett Syndrome Foundation to form the Rett Syndrome Research Trust organization.  

RSRT has a new website under development at www.RSRT.org, along with a separate site exclusively for Rett syndrome researchers at www.RTTScienceWatch.org.

 

 

 

  

 

 

A familiar Rett syndrome story from Normalville

An unexpected four-day hospital stay with one of our girls reminded us of the need for more awareness of Rett syndrome. Doctors and nurses who were totally unfamiliar with Rett syndrome had difficulty understanding the nuances of our child’s condition. As such, her care was compromised and she had to stay much longer than perhaps was necessary. Medical professionals could not readily grasp her medical needs and how to best care for her. They simply lacked any understanding of what is “normal” for a person with Rett syndrome.

Upon our child’s return home from the hospital, things began to return to “normal” in terms of our day-to-day routines. As things started getting better for us, this well-written article about a young child with Rett syndrome from Pennsylvania caught our attention. Erika Miller is a two year-old girl with Rett syndrome who lives in Normalville, Pennsylvania, a town of about 3,000 people located southeast of Pittsburgh. 

Erika’s story is all-too-familiar for those of us caring for a person with Rett syndrome. The article provides a solid perspective on the challenges of pursuing a diagnosis, solicit services and supports, and caring for a person with Rett syndrome. Here are some points from the article that most of us can relate to:

• Erika seemed fine and developed like most babies her age until the age of one.
• Erika lost her ability to pickup Cheerios with her hand and put them in her mouth.
• At around six months Erika’s head growth and overall weight gain slowed, but a doctor assured her parents at that this was not uncommon.
• Early intervention Occupational therapy services were denied because “her hands were still functional”.
• The Children’s Institute in Pittsburgh denied services to her at their facility because they her goals were “not measurable”.
• Erika could need a feeding tube because she has only gained four pounds in the last 20 months.
• Erika has lost her ability to talk and use her hands, but doctors believe she understands a lot more than she expresses.
• Erika underwent more testing at the Kennedy-Krieger Institute in Baltimore, where an abnormal EEG suggested she was at risk for developing seizures.
• While Erika receives several therapies to treat her symptoms, including horse riding therapy (hippo-therapy), insurance won’t pay for things like hydro-therapy that her therapist recommended.
• Erika’s parents first learned of Rett syndrome from a medical professional other than their child’s primary care doctor. Erika’s dentist first mentioned the possibility of Rett syndrome because of her hand-wringing. Interestingly, Erika’s dentist had a brochure about Rett syndrome on hand to give to her parents.

I am not sure if the last point about the dentist having a brochure about Rett syndrome on hand would be considered “normal”. Let’s hope that in time all medical professionals will be so well-informed and well-equipped with information for their patients.

For the most comprehensive look at Rett Syndrome we urge you to consider The Rett Syndrome Handbook, from the International Rett Syndrome Foundation.

 

InterRett database study reveals range of Rett syndrome

The first comprehensive analysis from the InterRett database of over 1,200 people with Rett syndrome was undertaken by an international collaboration headed by the Telethon Institute for Child Health Research.

The results were published in the March 2008 edition of the international journal Neurology. The InterRett database project is funded by the International Rett Syndrome Foundation.

Report co-author, Dr Helen Leonard, said the findings have revealed a wide variability in the effects of the syndrome. “This is the first time that we’ve had quality information about a sufficient number of cases to be able to do a rigorous analysis comparing specific genetic mutations with they way the disorder is manifested in affected girls,” Dr Leonard said

"While Rett syndrome is caused by a mutation on the MECP2 gene on the X chromosome, variations in the mutation determine the severity of symptoms. Our analysis of eight common mutations that account for two-thirds of cases, showed considerable variation in abilities”

Dr Leonard said the information would be of great value to families, clinicians and carers. "Many parents have found the lack of information about their daughter’s prognosis very distressing and will welcome a clearer indication of what they might expect in the future,” Dr Leonard said.

"Our findings really emphasized how much variability there is in the syndrome and we hope that information will assist with earlier diagnosis.” Dr Leonard said that girls with the milder form of Rett syndrome may retain some language, hand function and the ability to walk. In contrast, those with the severe form don’t show the usual pattern of regression but are affected from birth.

InterRett is managed by:

The Australian Rett Syndrome Study

Telethon Institute for Child Health Research

PO Box 855

WEST PERTH 6872 AUSTRALIA

Tel: +61 (8) 9489 779

Fax: +61 (8) 9489 7700

Mobile: +61 419 956 946

Email: rett@ichr.uwa.edu.au

Source: Press Release from Telethon Institute for Child Health Research, 11 March 2008

State agrees to fund Irish girl's spinal surgery in London

In a front page story, The Irish Times reported on February 2, 2008 that the State has reversed its position and agreed to pay for a spinal operation in London for a 12-year-old Cork girl with Rett Syndrome who has been on a waiting list for surgery at a Dublin hospital for 10 months.

In an earlier post on the subject, we reported that an inspired anonymous Irish donor had agreed to fund the surgery after hearing the plight of the girl. The press reports on this story apparently spawned much debate on the subject. The government health services agency was reported to have said “the rules of the Treatment Abroad Scheme had been changed by the Department of Health”.

This abrupt change came as a wonderful surprise. Bernadette Kelleher, the girl’s mother, described the development as "unbelievable", given all the family had been put through. According to the Irish Times article, the businessman who offered to pay for the operation indicated that “if the Kellehers did not eventually need the money, he would make it available for another cause”.

This is a wonderful Rett syndrome story that goes well beyond helping just one person. It shows that raising awareness of one girl’s plight can make a profoundly positive impact on others seeking similar medical treatments abroad. We extend our kudos to all involved in making this happen. 

Rett Syndrome Research Trust receives donation from duty free and travel retail association charity

The Rett Syndrome Research Trust (RSRT), a relatively new Rett Syndrome research organization, was awarded a €30,000 (approximately $44,181) grant from the charitable arm of the Tax Free World Association (TFWA) in an announcement dated January 25, 2008.

TFWA is the world’s largest Duty Free and Travel Retail Association, with a membership of 420 brands, supplying the global duty free and travel retail markets. The organization’s charitable arm, TFWA Care, provides financial assistance to humanitarian organizations and various charitable projects. 

Here is how the RSRT was described in the TFWA Care announcement: “Based in New Jersey, the Rett Syndrome Research Trust conducts research into treatments and ultimately a cure for Rett Syndrome and related disorders. Rett Syndrome is considered the most physically disabling of the autism spectrum disorders and the leading genetic cause of severe impairment in girls. This neurological disorder robs afflicted girls of speech, hand use and normal movement. It may prove however to be the first reversible childhood neurological disorder.”

Monica Coenraads, the Executive Director of the Rett Syndrome Research Trust, was formerly with the Rett Syndrome Research Foundation (RSRF), which is now the International Rett Syndrome Foundation.

This article provides more information about Monica and the Rett Syndrome Research Trust. Here is how RSRT was described in its first fundraiser announcement in October 2007: “The Rett Syndrome Research Trust will be structured as a highly focused, agile and dynamic research organization, aggressively pursuing the goal of bringing a novel treatment strategy to clinical trials within five years. “Rett Syndrome strikes little girls at random, creating what was thought to be irrevocable neurological damage,” says Monica Coenraads, Executive Director of the Trust. “Our mission is to close the gap between the recent scientific breakthrough demonstrating reversibility in mice, and the establishment of this work to human application.”

While the RSRT web site is not yet functional, we were able to find this contact information for RSRT.

Monica Coenraads, Executive Director 121 Avenue of Two Rivers Rumson, NJ 07760 USA Phone: 203-243-5733; Fax: 203-445-9234 E-mail: monica@rsrt.org

Congratulations to the Rett Syndrome Research Trust. We look forward to hearing more about this organization’s future research plans and will keep you posted as we learn more.

International Rett Syndrome Foundation premiers all-new website

The International Rett Syndrome Foundation (IRSF) unveiled its all-new website in late January 2008. The site is located at www.RettSyndrome.org. The new site provides an unprecedented array of online services and supports for the Rett Syndrome Community, including forthcoming Rett Syndrome forums and chat rooms. Over the past few weeks we’ve enjoyed seeing the site progress to its launch.

Kudos to the IRSF and their website design and development organization SongSwift Web Media Solutions (www.SongSwift.com) for such a major move forward in providing online support and information to the Rett Syndrome community!

Greg and Janine

Rett syndrome support comes from a inspired anonymous Irish donor

We were particularly struck by this inspiring story of Rett syndrome support from Ireland. It illustrates how one family faced the challenges of obtaining costly and timely scoliosis surgery for their daughter who has Rett syndrome. Their child was on a waiting list for surgery at an Irish hospital for more than a year, so the parents sought Irish government funding to have the surgery performed at a hospital in the UK.

In this first article the impassioned parents talk very specifically about the rigors of Rett syndrome and scoliosis in particular. Note also the quote from Ron Overton from the UK Rett Syndrome Association in support of this needed surgery. This second article tells how a kind-hearted businessman who heard of this need anonymously pledged €100,000 to send this girl to the UK for the life-saving scoliosis surgery.

This story shows how building awareness of the rigors of Rett syndrome can lead to help from unexpected places. Asking for help is not always easy, but this situation truly illustrates that it can be worth the challenges. Kudos to the Kellehers for having the courage to ask for help, the UK Rett Syndrome Association for providing their words of support, the media for telling the story, and finally to the anonymous Dublin businessman who pledged to make a real difference in one girl’s life. Best wishes to Ann Marie for a full recovery from her surgery.

Hopefully this will encourage others, as it has us, to share their personal stories via the media. There’s no question that awareness is a vital first step to making a real difference in the lives of those with Rett syndrome.

Greg and Janine

Community trying to work together to create a "virtual village" for people with disabilities

This inspiring story from New South Wales, Australia recently caught our attention in that it illustrates how a deeply dedicated mother is trying to work together with local disability services officials, a private banker, and city council officials to spearhead an innovative day care, respite, and supported accomodation program for people with disabilities as they get older. This particular story involves a mother of 23–year old twin sisters, one who has Rett syndrome and one who has high functioning autism.

The heart warming headline of the story sums it up best: “Disabled people have a lot to look forward to”.

The importance of connecting family caregivers

Greetings! It has been a while since some of you have heard from us. I want to wish you all the very best this holiday season.

I have been personally a bit under the weather for the past several weeks, but I am getting much better now. Special thanks to all of you who offered your emails and prayers for my recovery. I am feeling much better now.

Being physically ill for an extended period of time reminded me of the tremendous responsibility of family caregivers of people with Rett Syndrome. For parents, bothers, or sisters out there who are interested, I wanted to pass along this link to the National Family Caregivers Association. Their website offers a great deal of care giving resources of interest. I had the pleasure of speaking with the founder of this organization several years ago at the World Congress on Disabilities and one of the key themes to the organization’s success is “connecting caregivers”. Here is their website link: 

http://www.nfcacares.org/

 

Louder Than Words: A Mother's Journey in Healing Autism

Here’s a story from the September 18^th Oprah TV show that we thought might be of interest to the Rett Syndrome Community. Model, television personality and actress Jenny McCarthy, mother of a son named Evan who has Autism has a new book called Louder Than Words.

She was there to promote her new book and to  share her story about the techniques she has learned that have helped her son and her cope with the challenges of Autism. She was joined by friend and actress Holly Robinson Peete, also a mother of a son with Autism. 

There was much discussion after the show online, but I found one particular viewer comment quite thought provoking. It was from a man with Asperger’s/High Functioning Autism. He has two son’s with Asperger’s. He indicated that every time Jenny and Holly insisted that their sons were “normal” children trapped behind Autism that bothered him. He was by far in the minority of those who posted there opinions after the show. Most people were grateful and thankful for all that Jenny and Holly had to say. In this man’s case, he was grateful and thankful for the opportunity to say this to them and what we call the “Oprah Community”:

“I am a normal Autistic and all I want is to be valued for who I am not be viewed as disordered. The medical community saw a list of common characteristics in a group of people decided it was a disorder and slapped a label on it. That doesn't make it a diagnosis it makes it a value judgment. People with Autism aren't disordered they simply have more work to do than the rest of you and by working with them more is required of you as well. Don't grieve your less than perfect child or your less than perfect life. Instead celebrate the gift of each moment and walk the path of opportunity your child's life with bring. Don't think of your child in terms of what they don't do or don't give you that you think they should. Challenge your own perceptions about who you think your child ought to be before you harm your child because of your own subjectivity.”

Like I said, it was quite thought provoking. If you’d care to share your comments on the subject, we’d like to hear them. Just click on the comments link below.

As always we appreciate your continued support and encouragement at Rett Syndrome Magazine.

Greg

 

Rett Syndrome respite worker facing felony charges for neglect and abuse

Those of us in the Rett Syndrome Community who knew about this were shocked and saddened to hear about Stephanie Cupps of South Carolina, who was seriously injured in 2004 in a vehicle accident when her respite worker (who has legally drunk at the time) drove off Interstate 20 and crashed the vehicle. The details of this story were told by Stephanie’s mother Amy Davenport one of the Rett Syndrome email discussion groups.

We learned from this WLTX-TV story that on August 31, 2007, prosecutors finally filed charged the respite worker with neglect and abuse of a vulnerable adult, which is a felony.

Amy was quoted as saying: “It's up to the court system now. I do feel like we followed it through, and that's what I wanted to do for Stephanie."

We offer our heartfelt kudos to Amy for the courage and persistence in pursuing this matter. It would seem to me that “following through” may not have been as easy a task as it would seem. It would probably have been easier to simply let the past go by, particularly with the rigors of caring for an adult with Rett Syndrome. The challenges of navigating any legal system are significant, although I am not certainly familiar with what Amy went through. I would imagine she had to spend a great deal of time convincing a prosecuting attorney why they needed to invest their limited time to more fully investigate what many might have considered a "cold case".

Kudos also to those in the Rett Syndrome Community who may have provided the encouragement, inspiration, and advice that may have bolstered Amy’s follow through efforts. This type of encouragement and assistance is what makes being a member of the Rett Syndrome Community such a joy. Kind words of encouragement can indeed inspire others to not only get through the rigors of each day, they can empower ordinary people to do extraordinary things.

We are hoping to learn more about how Stephanie is doing and will let you know more. Stay tuned...and keep those kind thoughts coming! It sure feels better than hearing hostile words doesn't it?   

Assistive technologies enable people with Rett Syndrome to say some amazing things

Over the years I’ve learned a lot of valuable lessons in life from my daughter Laura. One of the most important lessons she has taught me is that people with disabilities are often only disabled to the extent to which they have yet to acquire tools and technologies that enable them to succeed.

Laura is now 22 years old. While attending school I could never convince educators that Laura could indeed understand what people were saying or that she could indeed communicate in her own special way. I worked for years with teachers and therapists using Laura’s non-verbal communications dictionary (that was also published on page 227 of the first edition of the Rett Syndrome Handbook).

Unfortunately, educators could never seem to muster the patience to communicate with Laura on the same level that she and I enjoyed. I decided that such an effort would have required much more time and individualized instruction than could ever be possible in the schools that Laura attended. 

Over the years I never gave up on Laura and have worked for years to find the communications equipment that might make a difference in her life. After trying more than a half dozen different low-tech and high-tech systems and devices, I am pleased to report that we found a device and software (Mercury II) more than a year ago from the folks at a company called Assistive Technology.

Today Laura un-buckled her wheelchair seat belt, which is quite a feat for someone with very limited hand use.  When I asked her where she was trying to go, she used her communication device to tell me “outside”.  Then she quickly switched screens and began to “talk” about the birds she so dearly loves to observe.

Laura never ceases to amaze me with her determination imagination and spirit.  I wonder what she will tell me tomorrow?!

Stay tuned for more on Laura's adventures in "Rett Talk"!

Janine Battistone

Is it possible to achieve "Rett Zen" while helping those with Rett syndrome?

Over the years people have coined such phrases as “Zen of Running” and “ Zen of Cycling’, so why can’t we coin the phrase “Rett Zen”?  Here’s my definition:

“A mind-set and focus of energies directed at the day-to-day enduring care of those with Rett syndrome that is euphoric in nature”.

Somehow is just doesn’t make sense and you may wonder what direction I am going with this post.  Trust me it’s OK I wondered too! I won’t say that I have obtained a Rett Zen, rather a Rett Rut. Rett Rut is akin to the movie Groundhog Day with actor Bill Murray. Bill portrays a character Phil who is stuck in a time loop where the events of Groundhog Day repeat themselves like a broken record.  And so it goes day after day but something wonderful occurs. Phil changes his behavior, and people respond to his new actions, opening up all kinds of possibilities for playing with the unfolding of events.  As it turns out Phil has to be exiled from normal life so he can discover he is in exile from himself. 

As I tackle the multitudes of daily challenges of mothering two young ladies with Rett syndrome I struggle to maintain a healthy focus and balance. There never seems to be enough time in the day to achieve the much-needed warp speed to break the Rett Rut. 

And I suppose that I am not alone exiled in a Rett Rut, so I am going to continue to share my thoughts, ideas, suggestions even more regularly to reroute myself out of Rett Rut mode and into Rett Zen. Maybe others out there can also offer some suggestions along the way. Your comments can be added at the bottom of this post by clicking on the “comments” link below. I would sure like to hear what you have to say about Rett Rut and Rett Zen. Please drop me an email anytime.

Thanks for listening,

 Janine Battistone

Editor, Rett Syndrome Magazine

Janine@RettSyndrome.Info

Can a grandparent's age determine an increased risk for Rett syndrome?

We were intrigued by this clinical trials study being conducted by the Division of Medical Genetics at the University of Mississippi Medical Center.

The University is recruiting parents of children with Rett syndrome to participate in a study to help determine potential causes of the increasing prevalence of the disorder. The study is being conducted using an anonymous on-line survey available to parents through a secure link.

The study consists of approximately 90 questions about the affected child, siblings, parents, and grandparents, which will take roughly 10-15 minutes to complete. Several families will also be invited to participate in a phone interview. Both the survey and the phone interview are conducted using a self-designated code to protect anonymity and patient privacy. No identifying information such as name, date of birth, address, or phone number will be asked. Only questions regarding the year of birth of family members will be asked. 

For more information click here:

What is TaqMan and how is it helping scientists speed up the search for a cure for Rett syndrome?

As a former brand marketing professional this announcement caught my attention for two reasons: the brand name of the molecular tool “TaqMan” reminded me of Pac-Man; and I was amazed and grateful that Rett syndrome was spotlighted as a disorder that researchers were studying using this application.

This message also provided me a reassuring reminder that each and every day researchers around the globe get out of bed, leave their own families, travel to work, and spend countless hours of their time and talents working on behalf of people with Rett syndrome. They are indeed vital members of the Rett syndrome community.

Dr. Peng Jin is one of many Rett Researchers around the globe. He is  an assistant professor at the Department of Human Genetics at Emory University School of Medicine and is using an application called a “TaqMan Array Human MicroRNA Panel” to more rapidly and efficiently process genetic samples. Dr. Jin’s research is to better understand how changes in miRNA levels contribute to the disease pathology (study and diagnosis) of both Rett syndrome and Fragile X syndrome.

“Our sample throughput has increased dramatically,” said Dr. Jin. “Before we had access to the TaqMan arrays, we could only analyze about two samples a day. We can now analyze these same samples in about two hours.

Just as the name TaqMan brings back great memories of Pac-Man from my childhood days, I am grateful that people like Dr. Jin now have a funny-named application called TaqMan that is now making his job and that of other Rett Researchers easier.      

 

Girl with Rett Syndrome breaks new ground at summer day camp

We enjoyed reading this article in the July 15, 2007 issue of the St. Louis (MO) Post Dispatch newspaper highlighting nine-year old Ellie McCool’s time at the Renaud Spirit Center in O'Fallon, Missouri, a local summer day camp. Ellie is the daughter of Dave and Mickie McCool. Mickie is a regional representative for the International Rett Syndrome Foundation. 

Apparently Ellie was the first child who uses a wheelchair to ever be admitted into this day camp. The fact that the day camp assigned a one-on-one aid to assist Ellie is a significant indication of the camp’s commitment to including children with disabilities in their summer program. 

Not only was Ellie’s acceptance into the program a ground-breaking event, her mom Mickie succeeded in “breaking the ice” with other kids at the camp by speaking with them about Ellie and Rett Syndrome the first day. It is clear from the story that the introduction succeeded. It isn’t easy for any child the first day of camp or school, particularly one who cannot speak for herself. In situations like this with our daughters we have found it is very helpful to stress the similarities our child has with their peers more than the physical challenges they face.

Congratulations to Ellie and kudos to the McCools and the folks at the Renaud Spirit Center.

  

 

 

Climb for Hope: An amazing Rett Syndrome story

Can you imagine risking your own life to raise Rett Syndrome awareness? Over 16 years ago a team of very brave people did just that with the financial assistance of the Canadian Rett Syndrome Association.

In 1991 a Canadian climbing team launched the first Mount Everest climbing expedition for charity, the Climb for Hope. The team was formed by Mr. Ernie Sniedzins to bring attention to the rare medical condition Rett Syndrome, which his daughter has. The Climb for Hope team consisted of climbers from most Canadian provinces. Peter Austen, as leader, and his team overcame many obstacles on their pilgrimage to Everest including lack of money, landslides, and terrible weather to name a few.

Their pre-Everest preparations included dangerous ascents of Mount Communism in the former Soviet Union and Popcatepetl in Mexico. Each of these climbs was a prelude to the real adventure. Everest or, as the Nepali people call it, the Goddess Mother of the World, remained unconquered in 1991 by several international teams. Three climbers reached 26,000 feet but were beaten back by 100 mph jet stream winds. They were lucky to return alive.

I was inspired to learn more about the Climb for Hope via a listing on eBay for a Mount Everest Expedition Coat:

“You are looking at a very rare piece of history. This coat was used on the Climb For Hope Expedition in 1991 by team member Bob Gibson. If you look on the inside of the coat, you'll find his name badge sewn into it. The coat is in perfect condition and his been hanging in a closest for several years now. I'm in the process of moving and wanted to clean a few things out. “

I also found two other  interesting items about this remarkable event at Amazon.com.

Film: Everest: Climb for Hope.  Awarded the gold medal for Best Informational Documentary at the New York International Film Festival.

Book: Everest Canada: The Climb for Hope. Written by Dr. Peter Austen, the leader of the event.

Thanks to awareness-building efforts such as this remarkable adventure, much progress has been made since 1991 in the quest for a cure for Rett Syndrome.  Still, this story of the team’s struggles to reach the summit illustrates just how challenging and sometimes heartbreaking the efforts to find an eventual cure for Rett Syndrome continue to be.

Glimpses from the Seattle Strollathon for Rett Syndrome research

The recent Strollathon in Seattle raised a reported $15,000 for Rett Syndrome Research. We thought you would enjoy seeing a glimpse of that event through first time participants. Lauren and Adam Cramer raised $1,800! Kudos to all event organizers and participants.

If you have news from your Rett Event that you’d like to share, please drop us a note.

Read More…

NASCAR provides Rett Family with new vehicle

We read about this wonderful and inspiring story from a discussion group the other day and wanted to share it with others in the Rett Community. The story made the pages of the Boston Globe and will be featured in an episode of a television series called NASCAR Angels this fall.

Source: Boston Globe, 08 July 8, 2007

Summary

Chris Ayer of Concord, N.H., is such a loyal NASCAR fan that for 17 years, he has used his vacations to work at the New Hampshire International Speedway in Loudon. Recently, the sport repaid him in a way he never expected.

Ayer's family was selected by "NASCAR Angels," a nationally syndicated television show that solves struggling people's transportation woes, to have their 1991 Chevrolet Astro van renovated. With 212,000 miles, it had a worn interior, body rust, and repair needs. And, it couldn't fit both the scooter used by Ayer's wife, Ellen, who has muscular dystrophy, and the wheelchair used by their only child, 17-year-old Danni, who has Rett syndrome. The van also needed a tie-down lock system for Danni's wheelchair.

Read More…

Rett Merger: It's Official

Here is the official news. We pledge our full assistance to this newly formed organization and look forward to great things for the Rett Syndrome Community and we look forward to hearing more from IRSF about their plans.

OFFICIAL PRESS RELEASE:

FOR IMMEDIATE RELEASE

June 27, 2007

CONTACT: Chuck Curley

781-762-2240

781-301-1718

International Rett Syndrome Association and Rett Syndrome Research Foundation Complete Merger Combined Operations of Leading Rett Syndrome Organizations Will Lead to Enhanced Research, Treatment and Advocacy Programs

(Cincinnati, Ohio June 27, 2007) - The International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Foundation (RSRF), the world’s two leading Rett syndrome organizations, announced today that all approvals necessary to effectuate their merger had been obtained. The merger, approved unanimously by both boards of directors and by over 99% of the voting members, will be effective on June 30, 2007. The combined entity, known as The International Rett Syndrome Foundation (IRSF), will continue to focus on research, family services and advocacy related to the treatment and cure of Rett syndrome.

Today marks the beginning of a new era in the search for cures and treatments of Rett syndrome and related disorders, said Kathryn Kissam, Chairman of the board of IRSF. =B3A unified Rett syndrome community is better prepared to help advance the science and serve the families affected by Rett syndrome.

Chuck Curley will be the Executive Director of IRSF. The combined entity will build upon the success of both organizations, said Curley. We look forward to expanded cutting-edge research programs and innovative family services. I am hopeful that together we can accelerate treatments and cures while advocating for needs of affected individuals and families.

About Rett Syndrome

Rett syndrome is a neurological disorder which predominately impacts girls. While there are nearly 4,000 known cases of Rett syndrome in the United States, the disorder is genetically linked to more widespread neurological disorders such as autism, mental retardation and schizophrenia. Rett Symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the affected children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments.

About IRSA

The International Rett Syndrome Association (IRSA), founded in 1984, is the world’s oldest and most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and educational family support, and stimulating research aimed at finding the cause of Rett syndrome and methods for its prevention, control and cure. The Association has members in all 50 states and 72 foreign countries. For more information please visit www.rettsyndrome.org, or call 1-800-818-RETT.

About RSRF

The Rett Syndrome Research Foundation was founded in late 1999 by a passionate group of parents who were committed to funding research aimed at finding treatments and a cure for Rett syndrome. Today RSRF is the world's leading private funder of Rett research. In the last five years RSRF has funded 104 projects at premiere institutions totaling over $11 million. The foundation has proven to be fiscally responsible by directing 97% of each dollar donated directly to program services and was awarded Charity Navigator’s prestigious 4-Star rating. For more information please visit www.rsrf.org, or call 1-513-874-3020.

An Alternative to Embryonic Stem Cells: Stem Cells From Baby Teeth

Once again the subject of embryonic stem cell research is making the political news. Recently we told you about a new company called BioEden, that cryogenically preserves baby teeth for stem cell therapies. Like many parents of young children with Rett Syndrome we sent away for more information about this company. I was surprised to learn that this service was prompted by research performed nearly four years ago by Dr. Songtao Shi, a pediatric dentist from the U.S. National Institute of Health who discovered that baby teeth grow robustly in a lab setting.

According to the very informative free twelve page brochure that BioEden sent us (that also includes information about pricing and timing for delivery of tooth specimens), the stem cells harvested from baby teeth will have enough therapeutic potential to meet a host of future therapeutic medical needs. Quite frankly, I was surprised at how little this service costs, relative to the potential benefits to those with Rett Syndrome. This seems like a very promising service.  

One thing that struck me is that you have 48 hours after the tooth is out to get the tooth to BioEden to maximize the chances of what they call “a successful isolation”. Adding to the urgency is that not all teeth hold the same potential. Incisors and cuspids are the key teeth that seem to have the greatest potential.

The brochure is definitely worthwhile for you to further consider whether this might make sense for your child’s situation. Here is the link to BioEden’s website in case you missed the original post on this exciting new service: Click here to learn more about this medical breakthrough and how you can take steps now to protect your family's future health.

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Rett Syndrome Video Channel Reaches the 40 Video Mark

Rett Syndrome Video Channel (www.rett.tv), a service of Rett Syndrome Magazine, added its 40th video today, further serving the Rett Syndrome Community with additional insight into this disorder.

Included in the latest additions are videos showing children from a variety of countries worldwide, showing that Rett Syndrome is a disorder that knows no boundaries and affects each person differently.

Rett.tv provides the Rett Syndrome Community an unprecedented opportunity to view a variety of people with this disorder. The site allows people to share their ideas for therapies and other treatment programs.  It also allows treating physicians and other professionals that see only one or two clients with the disorder to learn more about the disorder.

One unexpected benefit of Rett.tv is the ability for parents and caregivers to upload videos to allow treating physicians who are long distances away to view what is happening with their patients. This feature allows a physician to learn much more about a patient than can easily be described via a telephone call.

A unique feature of Rett.tv is the ability for viewers to add their own videos to share with the Rett Syndrome Community. This process is easy to follow from the button on the home page. We thank those who have already contributed to Rett.tv and we look forward to including even more videos in the future.

The Rett Syndrome Video Channel is available via links from Rett Syndrome Magazine (www.rettsyndrome.info) or directly at www.rett.tv. For more information about Rett.tv, please visit the website at www.rett.tv or email any additional questions to mail@rettsyndrome.info

Rett Alert: St. Louis thieves steal van and wheelchair of girl with Rett Syndrome. Both were later recovered.

Publisher’s Note

This wheelchair has been found as of June 11, 2007.

Follow Up Story

There is some good news for a south St. Louis family whose van was stolen with their daughter’s special wheelchair inside. FOX 2 News has just learned the van was recovered and the wheelchair. Melissa Berry's 6-year-old daughter Victoria has a neurological condition called “Rett Syndrome". She can't talk she can't walk she can't use her hands and had a special wheelchair with restraints to keep her safe while riding in a car. Police have located the family's van and the wheelchair.

Sources

KSDK TV, Fox 2 News, St. Louis, MO, USA

Original Story Summary

It was a double-blow for a south St. Louis family as thieves struck their street Saturday night. They took a van belonging to Steve Clark and Melissa Berry. It was parked in front of the family's home in the 7800 block of Minnesota Avenue. They also took their six-year-old daughter's wheelchair, which was stashed in the back. The $10,000 wheelchair was made specifically for Victoria Berry, who has Rett Syndrome, a neurodevelopmental disorder. To Victoria and her family, it's worth much more.

The problems started with an accident last Friday. Berry was driving when a dump truck hit her van. Her family was fine, but her van was totaled. So Wednesday, she purchased a replacement van -- a green 2000 Dodge Caravan. But her string of bad luck wasn't over yet. "I came home (Saturday) night and my van was gone. It was stolen from right in front of my house. The family does have insurance, but it only covered part of the wheelchair when it was initially purchased. If you have any information on the theft, call St. Louis police at 314-444-5555.

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Rett Events: RSRF 2007 New York Picture a Cure Benefit

June 28, 2007 is the night of the big fundraising event of the year for the Rett Syndrome Research Foundation and this year marks its 5^th year in New York City. Rett Syndrome fundraisers all over the world can learn a great deal about successful event fundraising from how this event is staged and promoted. The event is conducted at a premier location, honoring a well-regarded individual, and is conducted by an outstanding Benefit Committee. 

The event is a reception and auction held at the famed Sotheby’s auction house, featuring live entertainment, fantastic food and an incredible silent and live auction.

RSRF’s honoree for this event is Mr. Ric Clark, President and CEO of Brookfield Properties. Brookfield Properties is an office property corporation that owns, develops, and operates premier assets in the downtown core of high-growth North American cities. Brookfield Properties' buildings define the skylines in many major metropolises including New York, Boston, Washington, D.C., Los Angeles, Houston, Toronto, and Calgary.

For more information about this event, please visit the Rett Syndrome Research Foundation website at RSRF.org

 

 

 

Beneficial Stem Cells Can Now be Harvested from Teeth

Very interesting news from a new company formed by an executive formerly with the U.S. National Institute of Health. You may have seen this technology featured on television recently. We recently signed up for their free information package.

Breakthrough treatments using stem cells are being discovered today and will continue to emerge in the decades to come. Until recently, stem cells harvested from umbilical cord blood was the only storage option. Unfortunately, the cord cell harvesting and storage process is beyond what most parents can afford. A Reliable and Affordable Solution is Now Available. Recently, a viable new source of stem cells was discovered using baby teeth. And now, one company, BioEDEN, is offering parents an affordable way to store their children's stem cells harvested from baby teeth. By following simple storage and shipping instructions that BioEDEN provides, parents can preserve these valuable cells for decades. These stored cells can potentially provide a multitude of therapeutic uses, thus acting as “biological insurance” for children and their family members. Click here to learn more about this medical breakthrough and how you can take steps now to protect your family's future health.

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RSRF and IRSA Merger Announcement

FOR IMMEDIATE RELEASE

June 4, 2007
               
CONTACT:  Kathryn Kissam

804.741.3687

804.519.6231
kkissam@comcast.net

International Rett Syndrome Association and Rett Syndrome Research Foundation
Announce Merger Agreement to Form International Rett Syndrome Foundation

New Organization to Focus on Research, Family Support, Awareness and Advocacy

Cincinnati, Ohio – The International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Foundation (RSRF) today announced the intent to merge their organizations to form the International Rett Syndrome Foundation (IRSF).

“The rapid increase in scientific knowledge and pace of innovation in the field of Rett syndrome research and treatment call for increased coordination, increased funding and the development of a solid, comprehensive research repository,” said Kathryn Schanen Kissam, chairman of the board of IRSA. “By joining forces, we are able to combine the unique expertise of IRSA and RSRF to better serve children with Rett syndrome and their families.”

“Both RSRF and IRSA have made significant contributions to the advancement of understanding in Rett syndrome,” said Steve Gallucci, chairman of the board of RSRF. “We are looking forward to the many opportunities that will develop from the merging of our organizations and our mutual determination to make a meaningful difference in the lives of those who have been touched by Rett syndrome.”

The merger, which has been unanimously approved by both organizations’ boards, is expected to close around July 1 following the completion of appropriate due diligence and a two-thirds vote of approval by IRSA’s members. IRSA will declare a special membership meeting to be held at IRSA’s offices on June 27 at 9:00 a.m.; a proxy vote will be mailed to all members on June 4.

“I applaud the members of the governing boards of IRSA and RSRF for their hard work and due diligence at this pivotal point in the history of Rett syndrome. It has been my privilege to initiate the Rett syndrome movement, and my greatest honor to see others who share the same determination and passion join the cause,” said Kathy Hunter, president and founder of IRSA. Hunter, who will retire from her full-time staff position with IRSA when the merger is complete, will continue to work for the new organization in a part-time position as Ambassador, continuing to provide ongoing support services to families.

The core mission of IRSF will be to fund research for treatments and a cure for Rett syndrome and to enhance the overall quality of life for those living with Rett syndrome by providing information, programs and services. IRSF will also place great importance on advocacy and raising awareness about individuals with Rett syndrome so the scientific and medical communities, along with policy-makers, educators, caregivers and the general public, are better informed about Rett syndrome and motivated to help research efforts. 

Chuck Curley, the executive director of RSRF, will be the future executive director of IRSF. Curley cited the critical progress made by a recent landmark study, in which the symptoms of Rett syndrome (RTT) were reversed in a genetic mouse model, as one example of the types of critical research IRSF will support in the future. 

“Continuing research to find a cure and treatments for Rett syndrome is absolutely imperative, but also expensive,” Curley said. “This merger empowers us to leverage significant revenue growth created by shared fundraisers, collaborative minds, broader resources and combined best practices to create one strong, unified leader in the search for a cure while providing support services to families impacted by this disorder.”

The IRSF board of directors will be formed with six people chosen by IRSA’s board and six chosen from RSRF’s board. Kissam will serve as chairman of IRSF. As noted, Curley will serve as Executive Director of IRSF. Other executive staff appointments include Monica Coenraads, who will serve as Biomedical Research Director, and Paige Nues, who will serve as Family Support Director.

IRSF’s executive offices will be located at the RSRF location in Cincinnati, Ohio, with family support services operating from IRSA’s offices in Clinton, MD. IRSF’s web site will be www.rettsyndrome.org.

About Rett Syndrome
Rett syndrome is a neurological disorder which predominately impacts girls. While there are nearly 4,000 known cases of Rett syndrome in the United States, the disorder is genetically linked to more widespread neurological disorders such as autism, mental retardation and schizophrenia. Rett symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the affected children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments.

About IRSA
The International Rett Syndrome Association (IRSA), founded in 1984, is the world’s oldest and most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and educational family support, and stimulating research aimed at finding the cause of Rett syndrome and methods for its prevention, control and cure. The IRSA’s mission is to provide a better future for girls with Rett syndrome. The Association has members in all 50 states and 72 foreign countries. For more information please visit www.rettsyndrome.org, or call 1-800-818-RETT.

About RSRF
The Rett Syndrome Research Foundation was founded in late 1999 by a passionate group of parents who were committed to funding research aimed at finding treatments and a cure for Rett Syndrome. Today RSRF is the world's leading private funder of Rett research. In the last five years RSRF has funded 104 projects at premiere institutions totaling over $11 million. The foundation has proven to be fiscally responsible by directing 97% of each dollar donated directly to program services and was awarded Charity Navigator’s prestigious 4-Star rating. For more information please visit www.rsrf.org, or call 1-513-874-3020.

Who reads Rett Syndrome Magazine?

Rett Syndrome Magazine is quickly growing to become an online "meeting place" for the worldwide Rett Syndrome Community. The community response so far has been well beyond our expectations. We have already received visits, comments, and suggestions from a host of people who are related in some way to those with Rett Syndrome. This includes:

• parents
• sisters
• brothers
• grandparents
• aunts
• uncles
• cousins
• friends
• physicians
• researchers
• nurses
• home health aides
• teachers
• therapists
• educators
• social workers
• politicians

....and more

We are eager to hear from you about how we can be of further service. Please click here to submit article ideas, news, questions, suggestions, and concerns. Also, make sure you bookmark this site and check back on our progress. Thank you for your continued support of Rett Syndrome Magazine. We will always strive to earn your trust and respect.

What is Rett Syndrome?

Rett Syndrome is a severe neurological disease that is the most physically disabling of the autism spectrum disorders. Caused by mutations in the gene MECP2, Rett Syndrome affects primarily girls, striking at random in early childhood and destroying speech, normal movement and functional hand use. Many with Rett Syndrome become wheelchair bound; those who walk display an abnormal, stiff-legged gait. Disordered breathing patterns, tremors, and seizures are common.

For a more detailed description of Rett Syndrome, please visit the Rettpedia section of Rett Syndrome Magazine.

New Rett Ramblings section

Thank you for making Rett Syndrome Magazine the fastest growing website in the Rett Syndrome Community. In just our second full month of on-line publishing we have grown significantly, now serving over 1200 individual visitors worldwide per month! 

At Rett Syndrome Magazine we are constantly looking to improve the way we bring you information, insight, wisdom and inspiration. In response to reader feedback we are constantly looking for ways to improve the site layout, design, and functionality. This all new home page section has been designed to provide an ongoing dialog with readers about breaking news, new site features, new articles, and reader feedback. Stay tuned for more here in the days and weeks to come.