December 28, 2009

NIH Announces First National Research Study Recruitment Registry

Nationwide Registry to "Match" Volunteers with Researchers

Individuals who want to participate in research studies now can connect online with researchers nationwide through the first disease-neutral, volunteer recruitment registry.

ResearchMatch.org is a not-for-profit secure Web site, designed to provide people who are interested in participating in research the opportunity to be matched with studies that may be the right fit for them.

ResearchMatch offers an easy-to-use, free and safe way for volunteers to connect with thousands of researchers who are conducting research on a wide range of diseases.

The site is a collaborative effort of the national network of medical research institutions affiliated with the Clinical and Translational Science Awards (CTSAs). The CTSA program, which is led by the National Center for Research Resources (NCRR), a part of the National Institutes of Health, is focused on enhancing local and national efforts to enhance the translation of laboratory discoveries into treatments for patients.

Desipramine

Dr. Horton was recently contacted independently by two individual researchers who expressed concerns regarding an ongoing clinical trial being carried out in France. The study is seeking to treat breathing disorders in RTT patients using an approved tricyclic anti-depressent drug called desipramine. The investigators raised concerns following a recently issued FDA advisory, warning that healthcare professionals should use caution when prescribing the drug (Norpramin) in patients with a family history of dysrhythmias or sudden cardiac death – long QT syndrome is a cardiac problem often observed in RTT patients.

NEW: Scoliosis Guidelines

Click here to access copies of this pamphlet.

NEW GUIDELINES A MODEL FOR BETTER MANAGEMENT OF RARE CONDITIONS

Families and clinicians caring for girls with the rare and debilitating neurological condition Rett syndrome can now access a comprehensive guide to the best management of one of their most significant issues, scoliosis.

The new booklet contains a set of guidelines based on the findings of a research paper that was published in the latest edition of the international journal SPINE.

Co-author Dr Jenny Downs, who led the project at Perth’s Telethon Institute for Child Health Research, said the guidelines were developed in response to limited professional literature about the clinical management of Rett syndrome.

“While there are many experienced clinicians in many different countries, that knowledge had not previously been collated or shared,” Dr Downs said. “Many parents had voiced concerns about the management of scoliosis and felt that the information available was poor.”

* IRSF will print and supply copies of this pamphlet at conference, clinic and various other events as well as upon demand. Please email admin@rettsyndrome.org if you are in need of this booklet.

Antihistamine and Decongestant

2 senior child neurologists and IRSF Professional Advisors who have vast experience with Rett syndrome, Dr. Alan Percy and Dr. Daniel Glaze, have supplied their opinions regarding the use of antihistamine and decongestants in persons with seizures. The issue seems to be that some neurologists and pediatricians are concerned that these medications can lower the seizure threshold and therefore allow seizures to occur. They both agree that they have not seen this response in all their years of practice. Dr. Percy has suggested Benadryl as a sleep aid for quite a long time, even in those with seizures. I am not aware of anyone in his practice that has seen an increase in seizures with its use.

Both Dr. Glaze and Dr. Percy agree that the tolerability should be monitored in each individual rather than a general “use” or “don’t use” approach. If it is tolerated in your child, use it. If it isn’t tolerated, don’t use it. And, as always, a two-way discussion with the physician who knows your child best is advised.

Jane Lane, BSN, RN
IRSF Family Support Project Manager
University of Alabama at Birmingham - Civitan International Research Center

The International Rett Syndrome Foundation Adds Kenna Seiler to the Board of Trustees

At The International Rett Syndrome Foundations’ last Board meeting, held on December 2, 2009, Mrs. Kenna Seiler was elected to fill the open seat on the Board of Trustees. “Kenna has been a dedicated contributor for IRSF from the start and will continue to put forth every effort to further benefit the foundation’s mission of funding research for treatment and a cure for our angels,” said Chair Kathryn Kissam.

Kenna Seiler and her husband, Michael, reside in the Woodlands, TX, with their daughter Rachel, RTT age five, and their son, Ethan, age nine. The family received the diagnosis of Rett syndrome for Rachel at the age of 22 months in March of and immediately threw themselves into the world of Rett syndrome. Days after receiving the diagnosis, the Seiler family attended the Texas Rett Camp and have been involved in IRSF since.

Kenna has practiced law for over eighteen years and is board certified by the Texas Board of Legal Specialization in Civil Appellate Law. She is a shareholder at Hope & Causey, P.C. while Michael is the Judge of the 435th District Court, appointed by Texas Governor Rick Perry. Kenna is a former president of the Montgomery Country Bar Association, a former director of Bridgewood Farms, an activity center for adults with special needs, and has served on the IRSF Family Advisory Board.

Kenna has been part of the Tee it Up for Rett Syndrome gold tournament, Spending Time Ending Rett concerts featuring Clint Black and was the Chair of the First Annual Houston Strollathon in October of 2009. “I am dedicated to doing whatever it takes to make that happen, not only for my daughter, but for all of the beautiful girls with Rett syndrome, who are my inspiration, and their amazing families,” Seiler said of her efforts.

The IRSF Board and Staff would like to take this opportunity to welcome Kenna Seiler to the team. “The caliber of the IRSF Board has certainly been raised with the addition of Kenna,” Kissam said.

Rett Syndrome Awareness Meeting - India

We organized Rett syndrome Awareness Meet on 11th October, 2009 in our Dept. of Pediatrics, All India Institute of Medical sciences, New Delhi, to raise more Awareness.

This event was attended by around 40 Indian families from different parts of India (Majority from New Delhi ) and Doctors, Scientists, Researchers and other healthcare professionals. We were happy to see the response shown by the families in this regard and we are really thankful to them for helping us in this cause and making this event successful with their presence.

This Awareness meeting was organized for the second time as the first awareness meet was 19th October, 2008 and that was also a great and successful event.

We wish to keep on doing these events to raise more awareness in India as still people are not knowing much about this disorder. We wish that one day these angel be recognized by all and a treatment will come out which will help the Angels to lead a quality life.

Link for the pictures of this meeting

Love, Hugs, Prayers,
Rajni Khajuria
Genetics Division, Deptt. of Pediatrics,
Old O.T Building, First Floor,
All India Institute of Medical Sciences,
Ansari Nagar, New Delhi-29

Friends and Family

Take part in our 13th annual Phantom Tea fundraiser and our online Care and Cure Café! Friends and Family can donate in honor of your Rett angel in a quick, easy and fun way! These “tea parties” will help IRSF continue to fulfill IRSF’s mission for families affected by RTT.

2009 Phantom Tea

IRSF Care & Cure Café

Please contact jgrammer@rettsyndrome.org or call 1-800-818-RETT with the correct email address to ensure that you receive the invitation to the Care and Cure Café.

Please Update Your Contact Information with IRSF

If you have moved or simply changed email addresses or phone numbers, please contact IRSF in order to update our records.

We have numerous incorrect email addresses, home addresses and phone numbers in the database. We want to be able to inform you all of Rett research, news, family gatherings, fundraisers, etc...

Please contact Lisa Hayden at lhayden@rettsyndrome.org or by calling 1-800-818-7388 to easily and quickly update your information.

Regional Representative Program

Reach out and meet your Regional Rep today!

Make sure your Rep has you on his/her list so you can be informed of family gatherings and fundraisers. Each IRSF Rep very much wants to get to know ALL families! Please contact at Jennifer Endres or 508-362-2220 if you have trouble connecting with your Rep or if you have questions about the program.

Would you like to become a part of the Regional Rep Team?

IRSF has recently received some interest in filling the position of Regional Representative for a few of our vacant states! Be a pillar of support for Rett families in your state and get all of our Regional Representative positions filled! Please contact Jennifer Endres at jendres@rettsyndrome.org for more information and details. The following states remain in need of a Rep:

IRSF Networks

IRSF offers three special interest support networks known as the Grandparents Network, The Dads Network and the Parents of Males with MECP2 Mutations Network. These networks provide the support needed to understand and overcome the unique obstacles that having a child with Rett syndrome or a MECP2 Mutation brings to a family and in turn the members of these networks will help their family understand and overcome as well.

These Networks will:

Join one of our support networks today!

The Parents of Males with MECP2 Mutations Network
The Dads Network
The Grandparents Network

Questions?
Contact Jennifer Endres at jendres@rettsyndrome.org or call 508-362-2220

A Silent Angel’s Story

By your Kentucky and Tennessee regional Representative, Jess Steventon. For the entire article, click here.

In November 2008, while my husband Alan was fighting the war in Afghanistan, my daughter Riley Renee and I were fighting our own war back here at home. But let me back up a few months to the beginning. I had known for a while that Riley was behind the mark on milestones that a child should hit. By 12 months old, she hadn’t even begun to crawl, let alone walk. She had also stopped using some words she had learned. We did a round of genetic testing and a MRI, which both came back negative. In March 2008 Riley was diagnosed with developmental delays. We started with therapy right away. We had an occupational therapist, physical therapist, speech therapist, and developmental interventionist. Everything seemed to be getting better by June 2008. Although our daughter wasn’t talking too much, she began walking at 22 months. The excitement, however, was short lived. In August Riley started portraying some odd behaviors. She began pulling her hair out and exhibiting a “hand-wringing” motion. By

October it was more than any little girl should have to deal with so we went in for another round of genetic testing. There was only one test left to run—the only test that we didn’t run the first time. D-Day was inevitable. November 21, 2008, Riley was diagnosed with Rett syndrome.

IRSF Family Conference

Announcing 26th Annual Conference Location

"Ain’t No Mountain High Enough"
Cheyenne Mountain Resort
Colorado Springs, CO
Memorial Day Weekend
May 28-31, 2010
Mark your calendars – make your plan!


Who: Every person touched by Rett syndrome - parents, caregivers, professionals.
Why: Invest in yourself – one of the best things you can do for the child or adult in your life with RTT is to educate yourself about the syndrome and the pathways to treatments and a cure.
What: Knowledgeable, respected Rett experts brought together under one roof, for one weekend, dozens of unique sessions – all for you! Unparalleled sessions on research progress, communication, education, life planning issues, medical care, fundraising how-to workshops, marriage/family strengthening workshops, exhibitors and hands-on demos. And the most priceless gift of all: building community, friendship and learning from each other.

Registration will open online January 2010.

Conference Financial Planning Tip:

• Some company Flexible Spending Accounts (FSAs) will reimburse for registration fees, and possibly travel expenses, for education conferences on a diagnosed medical condition with a doctor’s prescription. Most 2010 Benefits and FSA enrollment periods open soon – see if you can take advantage of this opportunity by calling your company’s benefits administration department today!

Event Calendar

“The seat of knowledge is in the head, of wisdom, in the heart.”

~ William Hazlitt

Note:

Holiday Hours

The IRSF office will be closed for a few days over the holidays. However, in case of emergency you will still be able to get in contact with someone from our Family Support Team. If you find yourself in need of a staff member please call 1-800-818-RETT (7388).

The following days are IRSF office holidays:
Christmas Eve – December 24, 2009
Christmas Day – December 25, 2009
New Years Eve – December 31, 2009
New Years Day – January 1, 2010

We will be in the office all other days, Monday through Friday, 8a.m.-5p.m. Eastern Time

Please send ALL mail to 4600 Devitt Drive Cincinnati, OH 45246.


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