Rett.com

Information and inspiration for the Rett syndrome community

Posts Tagged Rett Syndrome

InterRett database study reveals range of Rett syndrome

Mar 11

Posted by Rett Dad in General | No Comments

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

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

Feb 2

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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. 

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Rett syndrome support comes from a inspired anonymous Irish donor

Jan 31

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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

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

Sep 18

Posted by Rett Dad in Support | 1 Comment

Louder than Words BookHere’s a story from the September 18th 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

 

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Who visits Rett.com?

May 29

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Our goal with Rett.com is to create 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. Make sure you bookmark this site and check back on our progress. Thank you for your continued support of Rett.com. We will always strive to earn your trust and respect.

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Rett Press: New Rett Syndrome fundraising idea? Tats for Rett

May 15

Posted by Greg Long in Fundraising, Media | No Comments

Wishful Inking May Be a World Record

Source

Cleveland Plain Dealer

17 May 2007

Article Summary

Willoughby, OH, USA

After 42 hours, 26 minutes and 4 seconds of tattooing, Marshall Olsen and Adam Kemp declared triumph. The friends decided they had broken the record for the world’s longest tattoo session, according to Guinness World Records. They collected donations, so far about $900, for the American Cancer Society and the International Rett Syndrome Association.  "We just wanted to do something to get ourselves recognized, as well as do something for the community," said shop owner Aaron Eisenberg, 27. "Everyone at some point has been affected, indirectly or directly, by cancer." The American Cancer Society knew of no similar fund-raisers, in Ohio anyway.

Publisher’s Note

This article from Cleveland lifted our spirits and reminded us there are many ways to raise funds for the most worthy cause of supporting those with Rett Syndrome. This is not your typical fundraising event. As with any fundraiser, however, the benefits often extend far beyond the actual money raised. The uniqueness of this fundraiser managed to catch the attention of an editor at one of America’s top 20 newspapers, thereby bringing significant attention to Rett Syndrome. Now if we can only get these guys an invitation to a late night talk show this may really be a success from a publicity standpoint.

Note that while the article mentions that one of the recipients they raised funds for is IRSA, the author did not include any comment from an IRSA representative. This illustrates the need to keep the organization you are supporting apprised of your efforts so they can be prepared to comment to the press when opportunities such as this arise.

Rett Syndrome Magazine plans to include a new Rett Fundraisers section to highlight  Rett Syndrome fundraising successes, big and small, from throughout the world. Our goal is to enable others in the worldwide Rett Syndrome Community to learn and apply the same ideas in their individual communities.

Please submit the basic information about your fundraising efforts and successes at our Contact page and we will get back to you for more details. Thanks for your continued support in making Rett Syndrome Magazine the fastest growing Rett Syndrome resource on the planet.   

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