A nivel mundial, se estima que el síndrome de Rett afecta a 1 persona por cada 10.000/15.000 nacimientos. En la región de O’Higgins existen casos, y en esta oportunidad conversamos con María Gabriela González García, mamá de Amanda Lucía Gómez González, de 4 años, quien fue diagnosticada y que vive, junto a su familia, en la ciudad de Rancagua.
Adriana Bastías

El mes de octubre es el mes internacional de la concientización sobre el síndrome de Rett, trastorno genético neurológico y de desarrollo poco frecuente, que afecta principalmente a niñas y que provoca una pérdida progresiva de las capacidades motoras y del habla. Fue en el mes de octubre de 1999 cuando la Dra. Huda Yahya Zoghbi logró identificar mutaciones del gen MECP2 (gen que codifica para la proteína 2 de unión a metilCpG y se encuentra en el cromosoma X) como responsable del síndrome de Rett.
A nivel mundial, se estima que el síndrome de Rett afecta a 1 persona por cada 10.000/15.000 nacimientos. En la región de O’Higgins existen casos, y en esta oportunidad conversamos con María Gabriela González García, mamá de Amanda Lucía Gómez González, de 4 años, quien fue diagnosticada con síndrome de Rett y que vive, junto a su familia, en la ciudad de Rancagua. Con María Gabriela conversamos sobre la realidad regional de tener un familiar con síndrome de Rett.

¿Nos podría contar sobre Amanda y como se dieron cuenta que ella tenía síndrome de Rett?

Amanda es una niña muy feliz y amada por toda nuestra familia, asiste a un centro educativo integral donde imparten educación especial para niños con alguna discapacidad; también, asiste a diferentes terapias como kinesiología, fonoaudiología y terapia ocupacional, que le ayudan a mejorar su calidad de vida y así transcurre su día a día entre sus terapias y su colegio. Al nacer Amanda, luego de varios meses, empecé a notar que su desarrollo psicomotor no era normal: no lograba sentarse por sí sola ni gatear, allí supe que algo no andaba bien en ella. Luego, a los 18 meses empezó con la *estereotipia mano-boca, a pesar de ya presentar este signo tan característico del Rett, asistimos a muchos neurólogos sin una respuesta concreta sobre qué le sucedía. La falta de información en el personal médico es vital; en el país, el síndrome de Rett es poco conocido y allí empezó el calvario del diagnóstico. Para nosotros fue muy difícil, ya que acudimos a muchos especialistas sin obtener ninguna respuesta precisa, fue luego de transcurrir 2 años que obtuvimos el diagnóstico genético positivo para síndrome de Rett.
*Estereotipia: movimiento o postura repetitiva sin un fin determinado.

¿Dónde se atiende actualmente Amanda?
Amanda se atiende de manera particular; adicionalmente, también, asiste al Instituto Teletón Santiago, donde recibe atención de fisiatra, terapeuta ocupacional y fonoaudiólogo de manera intermitente.
¿Qué le diría a otra madre o padre que sospecha que su hij@ tiene alguna enfermedad genética o síndrome?
Todos los padres deben estar alertas al desarrollo psicomotor de sus bebés desde el nacimiento, el cumplimiento de los hitos del desarrollo es clave para la sospecha de que algo no está bien en sus hijos. No duden en buscar ayuda y orientación médica, porque es fundamental la atención y el diagnóstico oportuno para el bienestar y calidad de vida de cualquier niño que presente alguna discapacidad o enfermedad genética, ya que el inicio temprano de las terapias correspondientes puede marcar la diferencia en todos los aspectos de su vida.

A nivel estatal, ¿Qué apoyo necesitan como cuidadoras/es?
Cuidar es un trabajo que, hasta hoy, no es reconocido; no entramos en la categoría de trabajadoras. Considero que necesitamos un sistema de seguridad social, es decir, tener el beneficio de pensiones o ayudas sociales por parte del estado. En mi caso particular, soy químico farmacéutico y desde que cuido a mi pequeña no he podido trabajar más de forma remunerada, ya que, por las posibles ausencias por enfermedad o terapias, aunado a los permisos inesperados no hay empleador que actualmente acepte, quedando mi esposo a cargo de todos los gastos y hoy en día, debido al alto costo de la vida y, en especial, tener un hij@ con discapacidad, un solo salario no es suficiente en un hogar. El ser cuidador de una persona dependiente conlleva una sobrecarga física, psicológica y económicamente mayor. Es por ello que considero que deberían implementar casas de descanso para que los padres cuidadores puedan hacer una pausa, aunque sea de solo unas horas del arduo trabajo que exige.
¿Cuál es el panorama que Uds. como familias enfrentan a nivel regional?
Considero que, para facilitar el día a día a las familias de personas con discapacidad en la región, se debería construir un Instituto Teletón acá; sería de gran beneficio para muchas familias, ya que hay un gran porcentaje de usuarios en la región de O’Higgins. Para algunas personas el traslado a Santiago es muy difícil por diversos motivos, entre los cuales podría mencionar económicos, el costo que implica esto y, también, el tema de trabajo: los permisos de trabajo tan frecuentes, ya que trasladarse hasta allá implica medio día o hasta un día completo de permiso laboral. Por tanto, eso afecta la calidad de vida de nuestr@s hij@s, al tener que faltar a una sesión de terapia tan necesaria para ellos.
77 comentarios en “Síndrome de Rett: Una mirada desde la región de O’Higgins”
You made some clear points there. I looked on the internet for the subject matter and found most individuals will go along with with your site.
Nice post. I learn something more challenging on different blogs everyday. It will always be stimulating to read content from other writers and practice a little something from their store. I’d prefer to use some with the content on my blog whether you don’t mind. Natually I’ll give you a link on your web blog. Thanks for sharing.
Valuable information. Lucky me I found your web site by accident, and I am shocked why this accident did not happened earlier! I bookmarked it.
Hmm it looks like your site ate my first comment (it was extremely long) so I guess I’ll just sum it up what I wrote and say, I’m thoroughly enjoying your blog. I too am an aspiring blog blogger but I’m still new to everything. Do you have any tips and hints for rookie blog writers? I’d really appreciate it.
I just could not depart your site before suggesting that I actually enjoyed the standard information a person provide for your visitors? Is going to be back often to check up on new posts
certainly like your web-site but you have to check the spelling on quite a few of your posts. Several of them are rife with spelling issues and I find it very troublesome to tell the truth nevertheless I will definitely come back again.
You made some clear points there. I did a search on the topic and found most individuals will agree with your site.
You are a very smart individual!
I like what you guys are up too. Such intelligent work and reporting! Keep up the excellent works guys I have incorporated you guys to my blogroll. I think it will improve the value of my website 🙂
Greetings from Florida! I’m bored at work so I decided to browse your website on my iphone during lunch break. I love the information you present here and can’t wait to take a look when I get home. I’m shocked at how quick your blog loaded on my phone .. I’m not even using WIFI, just 3G .. Anyhow, fantastic site!
I know this if off topic but I’m looking into starting my own blog
and was curious what all is required to get setup? I’m assuming having a
blog like yours would cost a pretty penny? I’m not very internet smart
so I’m not 100% certain. Any suggestions or advice would be greatly
appreciated. Many thanks
Hi there! This is kind of off topic but I need some help from an established blog.
Is it hard to set up your own blog? I’m not very
techincal but I can figure things out pretty fast. I’m thinking about making my own but I’m not sure
where to begin. Do you have any tips or suggestions?
Cheers
Hello I am so happy I found your site, I really found
you by accident, while I was researching on Aol for something else, Regardless I am here now
and would just like to say many thanks for a tremendous post and a
all round exciting blog (I also love the theme/design), I don’t have time
to look over it all at the minute but I have saved it and also added your RSS feeds, so when I have time I will be back
to read a lot more, Please do keep up the fantastic
work.
Hello there, I discovered your web site by the use of
Google while searching for a comparable matter, your site came up, it seems good.
I’ve bookmarked it in my google bookmarks.
Hi there, simply was aware of your weblog through Google, and
found that it’s truly informative. I am gonna be careful for brussels.
I’ll appreciate in the event you proceed this in future.
A lot of other folks shall be benefited out of your writing.
Cheers!
What’s up to every one, the contents present at this website are genuinely remarkable for people experience, well, keep up
the good work fellows.
Hmm is anyone else experiencing problems with the pictures
on this blog loading? I’m trying to figure out if its a problem on my end or if it’s the blog.
Any responses would be greatly appreciated.
Keep on writing, great job!
Do you mind if I quote a few of your articles as long as I
provide credit and sources back to your blog?
My website is in the exact same niche as yours and my users would really benefit from some of the information you present
here. Please let me know if this ok with you.
Cheers!
It’s great that you are getting thoughts from this piece of writing as well as from our argument made at this time.
This is a topic which is close to my heart… Take care!
Exactly where are your contact details though?
Possibly you have worked as an investigative reporter, carried out analysis at a
university oor collected data for a political organization.
Here is my page; 업소 알바
Hey there! This is my first visit to your blog! We are a group of volunteers and starting a new initiative in a community in the same niche.
Your blog provided us valuable information to work on. You
have done a extraordinary job!
Way cool! Some extremely valid points! I appreciate you
penning this article and also the rest of the website is extremely
good.
Exceptional post however I was wondering if you could
write a litte more on this subject? I’d be very thankful if you could elaborate a little bit more.
Bless you!
Lastly, in ourr expertise, it is ideal to apply byy way of a matching service such as 1F Cash Advance.
Look aat my page: 주부 대출
But in January 2005, following the administration became state-owned
KORAIL, it did not employ the attendants directly.
Feel free to surf to my blog post :: 유흥알바
Shield thhe Boss centers abot a physically and mentally
strong lady, Eun-sul, who is inn a desperate searcch for
a job.
My website; 이지알바
Functioning aspect time in rretirement can be a terrific way to keep busy
and earn additional income.
Heree is my web-site :: 이지알바
The consortium formed by Skilrock Technologies and Paybrokeds has won the
electronic auction to provide the lottery platform for future Lotepar (Paraná State Lottery) operators.
Review myy blog :: web page
The customers can post their solutions with a price tag quote
iin thee appropriate category.
Also visit my web blog :: 여성알바
That report reviewed application types from 28 of thhe prime 30 firms.
Also visit my web page :: 룸싸롱알바
A total of 236,000 new jobs have been added, with the unemployment rate sitting at a flat three.five%.
my web blog 유흥업소 알바
Women represent about 46% of the independent contracting workforce, up
fromm 33% in Could 2017, according to the American Action Forum.
my homepage … 유흥알바
As a connecting service, 1F Cash Advance has been in company for more
than 5 years.
my web siye 정부지원대출
$543 was calculated primarily based onn a $15,000 loan with a rate of 18.11% over 36 months.
Also visit my web site … 소액대출
The loan quantity, interest rate, and terms depend on the lender,
but the standard APR is in between 5.99% and 35.99%, with a duration from 3 to
72 months.
My blog … 프리랜서 대출
So if you have undesirable credit, you can nevertheless get a loan by way of the lenders on this
platform.
Also visit my webpage: 당일 대출
Scholars are studying how it affects students, teachers annd school district budgets.
Feel free too surf to my website – bar 알바
Sellers will be wearing their normal bright orange shirts
and will comply with socially distant protocols.
Here iis my blog post 비트파워볼
Passing a domestic anti-discrimination bikl woould go a long way to starting that culture shift
that international treaties have failed to accomplish.
my blog 이지알바
Just after graduating, she worked on the presidwntial campaigns of Senators Kamala Harris and Elizasbeth Warren and on the Senate campaign of
Amy McGrath in Kentucky.
My page :: 업소 알바
There may not be a a lot more iconic name in entertainment, resorts, casinos
and sports betting than Caesars Entertainment.
Here is my page – https://bizcochannel.com/
If you’re unfamiliar with crypto, you can study about the method on the Slots.LV crypto deposit
guide.
Look at my site website
For instance, in October 2022, Betssoon AB acquired 80% shares in KickerTech Malta Restricted,
a B2B sportsbook operator.
Also visit my siite 토토사이트목록
Their loyalty points plan presents you points thzt you
Also visit my blog post … 토토사이트추천
Taxes will will need to be paid oon winnings at a pruce of anywhere from 4% t0 8.82% falling in line with other
NY gaming revenue.
Here is my webpage – get more info
Our professionals have voted BetMGM Massachusetts ass the best all round amonget Massachusetts sports betting apps.
Feel free to visit my web page 해외토토사이트
We maintain our site up-to-date with all the existing
promo codes.
my blog read more
Players get a wonderful chance to get up to $1,000 credited into their accounts
as a match on their initial deposit!
my homepage click here
The second information point represents thosxe who gambled
on casino games regularly and routinely pafticipated in a single other gambling format.
My web-site; 온라인바카라
Generate an account and deposit at leastt $ten to get
one hundred% up to C$300 +one hundred absolutely free spins.
Feel free to visit my blog … check here
number of on the net casinos that accept cryptocurrencies.
Also visit my web sie 동행스피드키노
Once again, it is gambling that makes it possible for
you to bet on the entire prospective outcomes.
Look at my website :: 카지노사이트
I’m not that much of a internet reader to be honest but your sites really nice,
keep it up! I’ll go ahead and bookmark your site to come back later on. Many
thanks
Heya! I’m at work surfing around your blog from my new apple
iphone! Just wanted to say I love reading your blog and look forward to all
your posts! Carry on the fantastic work!
Thanks in favor of sharing such a good thought, piece of writing is good, thats why i have read it fully
This is a reasonable intyerest rate for an individual with
a undesirable credit score.
Here iis my website … 신용대출
Most on the web lenders commonly transfer funds in significantly
less than 24hours.
Here is my webpage – 연체자대출
Indeed, a switch from full-time-driven employment to part-time-driven employment
normally indicates that a recession is coming.
Feel free to surf to mmy blog post; 유흥알바
In truth, you can use an on tthe web casino promotion to increase your deposit when playing real revenue slots.
My web page 바카라사이트
Lenders make contact with you straight with loan gives annd their terms
andd circumstances.
Feeel free to visit my blog powt :: 신불자대출
Thee gender gap in pay has remained reasonably steady in the United States
more than the past 20 years or so.
My website … 밤일 알바
The value oof eaxh and every Fast Play game dictates the percentage of the Progresxsive Jackpot a player can win.
My weeb blog … 파워볼중계
Authentication plays aan significant function in payment fraud prevention.
Here iss my blog post :: web page
Jackpocket entered the Minnesota industry in 2018 and sold its 1st$1 million winner inside a month of its launch.
Stop by my web site web page
The oon line sports bettor will have an chance to legally bet on sports
on Jan. 1, 2023.
Feel free to visit my website check here
Today, I went to the beach front with my children. I found a sea shell
and gave it to my 4 year old daughter and said «You can hear the ocean if you put this to your ear.» She put the shell to her ear and screamed.
There was a hermit crab inside and it pinched her ear. She never wants to go back!
LoL I know this is totally off topic but I had to tell someone!
Logging in will hyperlink your VIP Preferred® and Bally Casino accounts togethedr so youu ccan make a deposit.
Here is mmy webpage: 우리카지노
You can also enter our Monthly No cost Games, with even more prizes
up for grabs.
my page :: 우리카지노
A revised referendum, limiting gambling exclusively to the city
lijmits of Atlantic City, was plasced on the ballot November 2, 1976.
Feel free to surf to my blog; 우리카지노
Some casino bonuses have 10 or extra conditions built into the supply.
Check out my website :: 바카라
Headquartered in Boston, DraftKings is fast off the mark when new states openn for business in the U.S.
market place.
Feel fre to surf to mmy web blog: https://www.bicocas.com/celulares-y-telefonia/%EA%B2%80%EC%A6%9D%EB%90%9C-%EB%A9%94%EC%9D%B4%EC%A0%80%EB%86%80%EC%9D%B4%ED%84%B0-%EB%AA%A9%EB%A1%9D-%EC%B6%94%EC%B2%9C.html
This plan has been extensively noticed as an attempt to revive industrial policy in the United States.
Also visit my webpage – website
Significant Sppin Casino accepts payments by means of e-wallets, Bitcoin, credit and debit cards,
and bank transfers.
Feel free to visit my wegpage – here
For greater-stakes players, this perk could encourage hours of spinning.
my site :: get more info
Search engines likke Google use robots to build up sarch
results.
Here is my blog post http://www.epilazyum.com
I do not know whether it’s just me or if perhaps everyone else
encountering problems with your website. It seems like
some of the text on your posts are running off the screen. Can somebody else please provide
feedback and let me know if this is happening to them too?
This could be a problem with my internet browser because I’ve had
this happen before. Appreciate it