Rett Syndrome Community

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danijelaszili
moderator

4th European Rett Syndrome Conference!

This year AIRETT celebrates its 25th Anniversary and for this occasion and in cooperation with RSE our friends from Italy will organize 4th European Rett Conference. It will be held in Rome, Hotel Barceló Aran Mantegna, on October 30, 31 and 1. of November!
Looking forward to seeing you there!

robpleticha
moderator

Hi Danijela,

Great news, thanks. When a link with more information or registration becomes available, please let me know.

Best,
Rob

danijelaszili
moderator

Sure,
Best,
Danijela

Potential treatment for Rett syndrome - The drug NNZ-2566

The Australian Stock Exchange in Melbourne made an announcement today (12/11/14) concerning the recent trial of the drug NNZ-2566 in the treatment of Rett syndrome. It was a brief summary, the content of which needs to be expanded in order to gain a better appreciation of the trial and its ramifications for those individuals who have the syndrome and their families.

Neuren Pharmaceuticals advised that a detailed report will be published prior to July 2015.

martacampabadal
moderator

Hi Bill,

Had you read this Q&A about the drug NNZ-2566? https://www.rettsyndrome.org/blog/nnz-2566...

From what I've read "this drug is not designed to specifically treat one of the symptoms of Rett, i.e. seizures, G.I. tract disturbances, hand movement, etc. But rather it is designed to correct the deficiency in nerve connections globally in Rett".

It looks like these are good news for the Rett Syndrome families.

Sorry for the delay in getting back to you. Thank you for bringing the Rett New Zealand item to my attention. I had not seen it before.

Earlier this month, Neuren Pharmaceuticals announced in Melbourne that Trofinetide will be the new name for the NNZ-2566 drug. I'm optimistic that it will prove to be of benefit in Rett syndrome.

Best wishes,

Bill.

Rett Syndrome *without* initial regression?

My (almost) 1 year old daughter is being referred to a neuro-geneticist to rule out Rett Syndrome. She certainly has a number of symptoms that are consistent with Rett (gross and fine motor delays; motor planning challenges; speech delays; repetitive hand movements) - except one. She hasn't been through any kind of regression. In other words, she didn't achieve milestones and then have them go backwards. Rather, she has been delayed in achieving milestones to begin with. Anyone else have experience with this or seen this?

Brief history: Normal development. Rolled over at 4 months (but not again until 7-8 months). Dropped weight between 4-6 months. Then back at the top of the charts for weight at 6 months. That's when I began noticing limited development. i.e. not rolling over again, not consistently putting weight on legs, not sitting up on own, etc. She is currently receiving therapy 2-3x/week for physical, speech, and developmental instruction.

We have upcoming neuro and neuro-geneticist appointments and want to read/understand as much as possible to be able to ask informed questions. Any thoughts or ideas on whether this is consistent with Rett or another disorder (and what) would be very helpful, along with questions that we might start thinking about.

Thanks in advance for any help! Want to get answers and support for our girl!
Courtney

martacampabadal
moderator

Hi creeve,

Thanks for joining the community and sharing your story on the forum. My name is Marta and I work with EURORDIS as RareConnec coordinator. I understand how difficult this moment can be for your family. Not having a diagnosis is devastating.

Where do you live? Have you contacted the Rett syndrome patient group in your country? Maybe they can give you the names of other specialists if you seek for a 2nd opinion.
Here's a list of patient groups worldwide:
https://www.rareconnect.org/en/community/r...

Orphanet recently posted this link: http://www.socialstyrelsen.se/rarediseases...

This article says:
"Over 90 per cent of the girls and women with the most common variety of Rett syndrome can be shown to have a mutation in a gene located furthest out on the long arm of the X chromosome (Xq28), this gene is called MECP2."

Have your girl undergone a genetic test to see if she has this mutation?

Regards,
Marta

danijelaszili
moderator

Gluten and casein free diet for Rett girls?

My almost ten year old girl has been on a gluten and casein free diet for almost seven years. I have seen lots of benefits for her while on it and think that this is a subject worth researching more. Do any of you have experience with this diet and could you tell us more about it?

danijelaszili
moderator

Thanks to one of the moms from facebook I found this link.
http://rettgirl.org/?s=gluten+free+diet

SandyDuPlessis
moderator

Hi there,

My granddaughter has Rett Syndrome which was diagnosed at the age of three. She is now five years old. Sorry, but this might turn out to be quite long.

Prior to her diagnosis, my daughter phoned me to say that Erin was in a bad way and she needed me to come home immediately. I was living in the Middle East at the time. I was horrified at what I found. The child was having up to 40 seizures a day and she looked as if she was at death's door. She had no strength watsoever.

The very first thing I did, was to insist that she be taken off all forms of gluten. (her pediatric neurologist who at the time rejected the possibility of Rett, was most annoyed with me). Within days the seizures almost stopped. ( should perhaps mention that I was/am a former ambulance medic)

NOTE: It takes a full 9 months to rid the body of gluten and the affects of gluten.
The next thing I noticed was that she would become very shaky and sleepy during the day, usually before meals. The first time it happened, we were in town, so I dragged my daughter and granddaughter into the nearest pharmacy and had them check her sugar levels. It was so low, that that she was actually heading towards slipping into a coma.

Thank heaven for nearby restaurants and honey. I stuffed so much of everything down that child's throat, I am surprised she didn't pop.

Our next step was to take Erin of of corn, soya, casien, and lactose. Her health improved in leaps and bounds. She became mobile again, she was once again able to feed herself although her hands still shook a lot.

After a full year, we began re-introducing first corn, then 3 months later soya, and 3 months after that casien and lactose was re-introduced but kept to a minimum. Gluten has and never will be re-introduced.

Today, Erin runs around like a very healthy, but slightly wobbly maniac. She gets into all sorts of mischief and is pretty much treated as normal by friends and family.

One other thing that that we did discover is that ill-health and/or pain sets off her seizures. But she is never able to indicate where she might be feeling pain, so it is often a guessing game trying to work out what is wrong.

All the best

Sandy

Hello, I just found your post on google. My Rett daughter of 10 years old began a diet at 19 month old. I can only says that we must make a diet without gluten and casein to help our girls immediately. For the moment I don't know another possibility that makes my girl happy, feeling better and sleeping well without constipation since she was a baby and WITHOUT any medications. Since beginning I wrote on a book everyday what´s happened during 1 year. She changed since the first day! French doctor and french association don't´ want to listen anything about it. In France we have to fit with Rett trouble and doctor. When m'y daughter was baby the Doctor only thought that she was autistic. When my husband mentioned Rett syndrome they say that she can´t have Rett syndrome. So we went to another hospital and asked for the Rett syndrome test. It took a long time to finally hear "Yes, she has Rett ". I'm ready to share informations. Sorry for my poor english.
Luisa

martacampabadal
moderator

List of Rett Syndrome Clinics in the US, Canada and Australia

The clinics listed here have distinguished themselves as hospitals and clinicians who understand the diagnostic criteria of Rett syndrome, and are dedicated to identifying the multiple needs of those diagnosed with the disorder. Their goal is to provide excellent medical care and consultation, improve quality of life, and advance clinical research in order to change the natural history of those diagnosed with Rett syndrome.

Please contact the clinic directly to schedule an appointment and discuss payment options and insurance coverage:
https://www.rettsyndrome.org/for-families/...

Doctors who are specialists and Reference Centers in Madrid, Spain

I'm collecting information of doctors who are specialists and who have experience in the treatment of the Rett Syndrome in the Community of Madrid, Spain; traumatologists, neurologists, pediatricians, physiotherapists, orthopedists, dentists, ophthalmologists, neurosurgeons, etc. If you are from Madrid and if you know of any of these specialists I would be very grateful for your information. My goal is to set up a data base to help the Rett community in Madrid.

Notice: This text content has been translated automatically by a third-party service.

martacampabadal
moderator

Hola Leticia,

Gracias por unirte a la comunidad y bienvenida!
Supongo que ya habrás contactado con la asociación española del Síndrome de Rett, verdad? Ellos no tendrán una base de datos de especialistas? Sólo los buscas en Madrid o en toda España?

Podías preguntar al Servicio de Información y Orientación de FEDER, por probar...: http://www.enfermedades-raras.org/index.ph...

En la web Orphanet hay los centros de experiencia en el Síndrome de Rett. Los tienes aquí: http://hope.ly/1wSMHEK
Espero que esta información te sirva de utilidad y que otros miembros se animen a comentar también ;)

Saludos!

danijelaszili
moderator

Dear Leticia,
Welcome to RareConnect! Are you in the board of the Spanish Rett Association? Is this your personal project? Next year the Eurordis Membership Meeting will take place in Madrid and this could be a chance to meet. Wish you luck with your project.

robpleticha
moderator

Rett Syndrome Europe General Assembly 2014

On Saturday, November 15th, Rett syndrome patient groups from around Europe will come together for a meeting. The highlight of this year's general assembly will be a presentation of Rett Centres in Europe.

View the agenda and more details here:
http://www.rettsyndrome.eu/news/rse-2014-g...

stellapeckary
moderator

Vielen Dank für die Bekanntmachung!!

danijelaszili
moderator

During the session breaks we will have the great pleasure to have Romana Malzer from the Austrian Association and mother of Isabella, 11 years old. Isabella communicates using a Tobii-device with a head-tracker. AAC (Augmentative and alternative communication) has improoved the family life and since 2010 Romana is working for LIFEtool. LIFEtool is a non-profit organization and is offering AAC-Counseling & training: professional, comprehensive and free from commercial interest AAC-consultations. Romana has an excellent knowledge about AAC and its use for the Rett-patients. Romana will present her ideas for low-tech-AAC, the use EyeTracking, and if time permits it, some iPad tips and tricks. You can follow Isabella’s journey by visiting her blog www.isabella-online.blogspot.co.at

danijelaszili
moderator

Here is the summary...
On November 15 we held our annual General Assembly meeting of Rett Syndrome Europe in the beautiful city of Vienna.
Our Austrian friends from ÖRSG hosted the meeting and kindly arranged the organisation of the day. We had the pleasure to have most of the European associations representing Rett syndrome present, plus the Russian Association, Armenian representative and IRSF from USA
After a warm welcome and a roundtable introduction, the RSE activity report was presented by the President Thomas Bertrand, followed by the financial report by the Treasurer Wilfried Asthalter. The annual elections to the board, (according to RSE statutes) then took place. The one post due for renewal was that of Danijela Szili, who was willing to stand for a further term of office. With no other nominations for the board position Danijela Szili was unanimously re-elected.
The main focus of the rest of the day was dedicated to having an overview of Rett (or multidisciplinary) clinics/centres that have been organised in each country and how they were set-up.
- Stella Peckary (Austria) described Neuro paediatric family camps from 2001 to 2005 followed by the actual paediatric neurology care in the Medical University of Vienna.
- Lorna Jaffa (UK) explained the work of the multidisciplinary consultations for children and adults taking place in 5 clinics around the UK. She also described the work of Rett UK in holding family and regional days around the country and presented the new Rett UK Family Companion which has just been launched.
- Dr Anne Marie Bisgaard (Denmark) gave an insight into the Rett Centre in her country and explained that it has permanent state funding to employ a full time paediatric neurologist and physiotherapist. Anne Marie emphasised that the project all started because families pushed hard to get the Kennedy Centre financed by the government.
- Oliviero dell Oro (Italy) gave a description of the 5 centres existing across the whole of Italy, mentioning that they are partly financed and supported by by AirRett, the Italian RSA. Each Centre has their own specialty but they all share a common knowledge of the disease. An exciting pilot project, called “Passport Clinic” has just been launched in Italy. It is a bracelet, designed to be worn by the Rett person, carrying an electronic chip that would include important medical information relating to that person.
- Pedro Rocha (Catalonia) focused his talk on the referral centre of Sant Joan de Déu hospital in Barcelona that sees hundreds of children every year. Pedro went on to explain that when a Rett syndrome person becomes an adult of 18 years of age, it is difficult to find care for them. 6 regions were identified by the Catalonian Rett Association and the national health ministry to provide care for Rett women in special day care centres. Families still need to pay a proportion of the fees.
- Wilfried Asthalter (Germany) presented the specialised consultation system for Rett syndrome people (both for children as well as for adults) in Kassel that works in close relationship with the University of Göttingen (for orthopaedic paediatrics exclusively). Consultations expenses are covered by the German health insurance system.
- Elisabeth Celestin (France) presented a project of a referral centre with a multidisciplinary consultation. Elisabeth and Thomas also mentioned the clinical trials related to Rett syndrome that are on going in France.

- Zuzanna Slotwinska (Sweden) gave an interesting and interactive talk about the challenges of finding support for Rett people in Sweden because the provision is variable, depending on where one lives. The health systems support is linked to local councils. Currently there is a Rett Centre at Froson, but there can be problems getting a referral there. An additional problem is that Dr Ingegerd Witt Engerstrom, who heads up the Centre is due to retire imminently and a replacement is being sought.
- Dr Christian Bergsaker (Norway) presented the history of the creation of the Rare Disease Centre in Frambu. This has been realised by a close relationship with the Norwegian Rett association. Family days and Summer Camps are also organised here, with the government covering the families’ expenses.


The meeting then had the opportunity to hear Dr Alan Percy, connected from the USA via Skype. Dr Percy presented the Natural History Study of Rett syndrome. The documentation of the disease has received new financial support from NIH until 2019. The 11 American Rett centres are participating. The study includes not only classical RTT but also Mecp2 duplications, CDKL5 and FOXG1 mutations. A metabolomics approach was also mentioned as there are hypothesis that there could be a signature in the particular metabolism of Rett individuals. An in-depth review of all the northern American centres and their specialities was then presented by Paige Nues, Director of family empowerment of IRSF (International Rett Syndrome Foundation.)

In the breaks between the sessions, Romana Malzer (Austria), who is herself a Rett parent, kindly presented the work she is involved in at “LifeTool.” She used a film, showing her daughter Isabella happily using the eye-tracking system (Tobii), using different software and other toys or electric devices that could be controlled with her eyes. Representatives could also test and have a look at the systems, using the various gadgets which Romana had brought along.
All presentations are available on the RSE website www.rettsyndrome.eu