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HELP US TO FACE THE RETT SYNDROME

I am getting in contact with all of you to ask for your help for an investigation project about the Rett Syndrome (http://www.precipita.es/proyecto/ayudanos-... This project of the San Juan de Dios Hospital of Barcelona wants to detect new genes that cause the Rett syndrome. in those patients in which the genes MECP2, CDKL5 and FOXG1 have been analyzed, with a negative result, as they believe they can find a new gene that are mutating in these patients.

Through crowdfunding they are asking for the amount of 10.000€, to study 4 patients using the CGHarray 400k and exome technologies (that must be studied simultaneously for each patient and also in the parents). If they manage to get 15.000€ they will study 6 patients and if they get more than 15.000 € they could re-analyze the patients with a clinical diagnosis of Rett without cost to the patient nor for the health center of origin or destination.

Up to this date they have collected 5.240 euros and they need to collect 4.760 in 6 days to get to the minimum objective and not to lose the quantity already collected. THEREFORE I ASK FOR YOUR HELP SPREADING THIS THIS PROJECT OR MAKING AN ECONOMICAL DONATION THROUGH

http://www.precipita.es/proyecto/ayudanos-...

danijelaszili
moderator

Thanks. I posted it on our Facebook page. Hope it helps a bit!

Thank you very much!

Please, could send me the link of the post. Thanks!

robpleticha
moderator

der Tod von Dr. Bengt Hagberg

Das Rett-Syndrom hätte auch Hagberg-Syndrom heißen können. Denn unabhängig von Prof. Dr. Andreas Rett beforschte ziemlich zur selben Zeit dieser schwedische Arzt diese (damals noch namenlose) seltene Erkrankung von Mädchen mit den händewaschenden Handbewegungen. Dr. Bengt Hagberg war Kinderarzt an der Universitätsklinik (Kinderneurologie) in Uppsala und Professor für Pädiatrie an der Universität Göteborg sowie Berater der Kinderklinik am Krankenhaus Östra in Göteborg.

http://www.isabella-online.blogspot.co.at/...

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!

danijelaszili
moderator

Sure,
Best,
Danijela

danijelaszili
moderator

AIRETT and RSE are proud to announce that the registration for the 4th European Congress on Rett syndrome, that will take place in Rome, is now OPEN!

http://www.ptsroma.it/airett2015/

robpleticha
moderator

Also added a link here:
https://www.rareconnect.org/en/community/r...

and shared on social media.

Bengt Hagberg (Sweden)

News has been received in Australia that Bengt Hagberg (Sweden) has passed away. For those of you that don't know, he co-authored the first article in English that had ever been written on Rett syndrome, the outcome of which was diagnosis of the condition in those countries who were proactive in following through with a diagnosis of individuals who could have the condition.

In August 1992, Bengt presented lectures on Rett syndrome to those Australian families living in Sydney and Perth, as well as to medical professionals working at Childrens' hospital in both of those cities. He was visiting Australia with his wife Gudrun, a paediatrician, who specialised in cerebral palsy. Bengt and Gudrun were only too pleased to make themselves available to families, be it to assist with a diagnosis and/or answer their questions.

During the mid to late 1980s and beyond, it was great to see the ongoing friendship that he had with Andreas Rett, Allan Percy, Robert Ouvrier (Australia) and others. They all seemed determined, as a team, to not only make things better for those with Retts but also get to the bottom of what caused the disorder.

We are so grateful that he was sure Rett syndrome was a unique condition and that he and others saw fit to inform the medical world. Boy, did things take off after publication of that first article. Underlying his concern and research was that he CARED.

Vale Bengt, you had an enormous and positive impact on the lives of those suffering with Rett syndrome and their families.

We remain forever grateful.

Bill Callaghan on behalf of the Rett Syndrome Association of Australia and
Australian Rett syndrome families

calidad de vida familiar

Sé que lo que voy a decir no aplica a todos los casos por diferentes motivos, para Empezar en mi país (Ecuador) no hay mucho conocimiento del síndrome de Rett. mi familia y yo llevamos a mi hermana (paciente) a los centros de salud que el Gobierno ayuda a las personas discapacitadas en general. La idea es que nos dicen que mi hermana debe recibir todo tipo de terapias. Lenguaje, Motricidad, Hidroterapia y hasta equinoterapia, etc etc. y nos agendan diferentes días a la semana. En otras palabras si la semana tiene 7 días por poco debo estar en el centro de salud 5 con mi hermana para que la atiendan. Me parece que vivir una vida metido en un centro de salud no es vida. Me está afectando a mi familia. (mamá, papá y yo etc) queremos que mi hermana este bien dentro de sus posibilidades pero nosotros estamos entrando en depresión. Gracias por leer esto y de antemano espero que UDs. tengan mejor condición que la mía y la de mi familia.

thomasbertrandrett
moderator

Are eye-tracking and other AAC solutions popular in your country?

Hi all,

I am preparing a quick survey on how AAC (Augmentative and Alternative Communication) systems are used in European countries.

The questions are the following:
1/ have you ever tried Eye-tracking systems? Did it work with your child. Is is often used in your country? Is it reimbursed by your health system? Are schools or special needs schools equipped?

2/ Appart from eye-tracking systems, are you using other AAC tools?

I guess there will be people in each country who have tried things but I also would like to have the general idea, if the majority of families have access or tried it not only a few numbers of parents with Rett children.

Many thanks!

- Thomas (Rett Syndrome Europe)

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.