Rett Syndrome Community

Meet, discuss & support other patients or families living with Rett Syndrome. Contribute to topics, or just share what's on your mind.

Start a discussion now (you must be signed in)

Concerned Mom Of A Beautiful Little Girl

Hello Everyone,

I would basically like to know if you feel I should be pushing for my daughter to be tested for Rett Syndrome. I will start by telling you her story so far in life. Laila was born on Feb 7, 2014. She is now 18 months old and just a joy to be around!

At 6 months old she has a bout of Left sided Hemi paresis. She lost the use of her left side for about 20 minutes. Her General Doctor referred her to a neurologist and she was seen the next day. They did there exam and started testing. About 1 week after the hemiparesis she started having myoclonic jerks, she was hospitalized for 2 day and underwent a 24 hour EEG. The EEG was abnormal but she was not having seizure activity. The neurologist told us that Laila is at risk for seizures due to her EEG but at the time was not having them. She had a MRI, multiple blood labs and urinalysis all coming back normal. Fast forward a year to the last 2 weeks and Laila has started doing some odd things. She wrings her hands, brings them to her mouth and when she walks or runs she twirls them in circles out to the side and above her body. She also has random tremors that occur a couple of times a day. She has not lost hand function that I have noticed, however when she goes to grab things sometimes she will stop before grabbing it and pull her hands back hold them and than try again. Sometimes it takes her up to 3 try's before she can grab it. Sometimes she just gives up. She has also started sticking her tounge in and out consistently throughout the day. She has always been behind in her milestones but has always got there. She started walking at 14 months and still does so. I have not seen any regression in her at all. There for am unsure as to if I should push to have her tested for Rett's. Her general doctor has referred her to a pediatrician who we will see in 4 weeks. I was just curious if any of your daughters had these symptoms in Stage 1 of Rett's? Am I being ridiculous for thinking this? Thank you so so much for any advice you can give.

Jessica

Hi Thomas,

I will definitely be pushing for it. And I am in Canada.

Jessica

thomasjohnston
moderator

Thanks Jessica, I work for a Rett Syndrome research charity and have put some feelers out to other people and groups regarding this. I am so far advised that the symptoms do sound like Rett but not the abnormalities on the EEG abnormalities, there aren't usually any with Rett Syndrome, only generalised slowing which is not considered an abnormality. I need to do some double checking but any more information would be useful and I can try and connect you to someone who knows better than I do. If you want you can email me thomas@reverserett.org.uk.

I emailed you Thomas :)

thomasbertrandrett
moderator

8th World congress on Rett syndrome 13-17 May 2016: Registration is still open!

Message from the congress' organizing committee:

Dear Friends, please note that the registration for the World Congress on Rett syndrome to be held on 13-17 May 2016 in Russia, Kazan continues.
All the necessary information can be found at worldcongress2016.rettsyndrome.ru
Kazan is a beautiful and hospitable city with 1000 years of history. Many cultures, religions, traditions meet here in Kazan: http://old.kzn.ru/eng/ Congress organizers offer to stay at the Riviera Hotel, which will host scientific and practical session of the Congress. This comfortable hotel offers rooms of different levels, and also a free ticket to one of the largest water parks in Europe http://www.kazanriviera.ru/
The program of the Congress includes scientific sections, practical sections, and cultural program. During the Congress, you will be able to listen to lectures and presentations on studies of Rett syndrome, meet with specialists, ask them questions. During round tables for parents you will be able not only to get information about the methods of training and rehabilitation, but also to meet each other, to communicate with families and with children. 58 Russian families from 20 cities in Russia have alredy signed up for the Congress, the parents of 17 girls with Rett syndrome have informed us that their girls will also become the members of the Congress. We are trying very hard to make the Congress comfortable, informative and educational event.
We are preparing the Congress with the help of the Ministry of Health and the municipal authorities, as well as rettsyndrome.eu and rettsyndrome.org
Congress Languages: English and Russian.

Have you ever been a member of the World Congress of Rett syndrome? Have you ever visited Russia? You have a chance to do it! Register now: http://worldcongress2016.rettsyndrome.ru/en/
If you have any questions please contact us: rttcongress2016@gmail.com

Welcome to Kazan to the World Rett Syndrome Congress: together above the dream!

robpleticha
moderator

4th European Congress on Rett Syndrome – Full report

The 4th European Congress on Rett syndrome took place in Rome during the last weekend of October. More than 400 participants were present.

Read the full report here: http://www.rettsyndrome.eu/news/4th-europe...

martacampabadal
moderator

Hi,

You'll find more information and a couple of photos in this article: https://www.rareconnect.org/es/community/s...

stellapeckary
moderator

Einen Bericht über den Congress in Rom in Deutscher Sprache gibt es auf:

http://www.rett-syndrom.at/bericht-4-ersc-...

mit vielen Fotos

martacampabadal
moderator

Emerging Research on Treating Seizures with CBD (Cannabidiol)

Listed here are a few recent publications and a brief summary of relevant findings.

https://mecp2.wordpress.com/2015/10/07/eme...

stellapeckary
moderator

Cannabidiol as an alternative medicin against epilepsy was also mentioned at the ERSC in Rome. Thank you for the links.
LG Stella

thomasbertrandrett
moderator

New materials for seats / armchairs?

Hello to everyone,

The French Association of the Rett Syndrome is thinking of a study on the research for more light materials in the construction of materials for disabled children (shells, casted seat, wheel chair etc.)
Our kids's shells are custom made and heavy 10 - 15 kgs (maybe more depending on the size and weigh of the kid or the handicapped adult). As well, these shells are not evolving.
These problems have been encountered as well with the wheel chairs and trolleys that become to heavy to be manipulated and make the moves even harder with the disabled person.

Is this really not possible to go from 10 - 15 kgs to 5 - 7kgs?
The cost of such materials is still relatively expensive since they are custom made, but it is not more the materials them self, it is the time spent building those.
Is there any industrials or manufacturers specialized in this kind of equipment?
There are now existing materials that are much more light and solid in the automotive industry, aviation etc. Can't we adapt these technologies for our kids?
Should we propose project in design research for the seats, hulls, trolleys with materials of the kind of carbon fiber?
What are your experiences and which technologies did you have access in your countries?

A huge thank you for your advices!

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

martacampabadal
moderator

A typical day in this family's life with Rett syndrome

“If you could share one thing with the world, what would it be?”

- If our children go to sleep at night feeling loved, completely loved, we are doing the best we can.

http://themighty.com/2015/09/the-one-thing...

danijelaszili
moderator

4th European Rett Syndrome Congress!

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

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

and shared on social media.

danijelaszili
moderator

Dear All, I am happy to announce that the full programme is now available on:
http://www.airett.it/program/

danijelaszili
moderator

New congress website now available on http://congress.airett.it/