Live With Rett Syndrome

[JohnnyX1239]

@ChristinePadillaELA Like most mental disorders, it doesn't run in families.

[Rettsis]

I have a sister who has Rett syndrome i'm 11 and i think she's the prettiest girl in the world for an older sister!

[Sheri451]

I watch a three year old who's Mom takes care of a child with Retts Syndrome. This child has horrible seizures and is hospitalized.She tells me that the child is learning to communicate with a voice box thing. This only affects girls, She told me the only boy born with it didn't live but a few minutes.

[BakerBrownies]

@Sheri451 Although they have said that retts only affects girls this is not true, my brother has it and he is 24

[Sheri451]

@BakerBrownies I'll have to tell her this. I hope your brother will be okay. This is a very sad thing for anyone to have.

[BakerBrownies]

@Sheri451 Although i can understand the rational behind you thinking its a very sad thing it is not, my brother is first and foremost my brother he just happens to have a disability just like i am a person who happens to have brown hair, it does not define him or make him who he is, he leads a happy and fufilling life despite his many disabilities i think this is an important message to be spread

[Sheri451]

@BakerBrownies I'm sorry I said that. I just know about the young girl my 3 year old I baby sit for Mom cares for. She's 15 and walks on her tip toes, She can't talk, or feed herself. She has seizures and has been hospitalized four times since July of this year. They thought they were going to lose her. I'm glad your brother is a grown man. I'm glad he's doing good. I thought they didn't live to ba an adult. I'm very sorry I offended you. Please forgive me.

[BakerBrownies]

@Sheri451 no no, you didn't offend me at all! i can understand how very difficult it is caring for a young person with a serious disability i just like to spread the message as often as possible to have a positive look towards people with disabilities Despite this you seem like an incredibly loving caring person whom im sure has the up most respect for those living with serious learning/physical disabilities i was by no means trying to say you had offended me, im sorry if it came across that way

[Sheri451]

@BakerBrownies That's okay. Yes I care for everyone. I was taught from the time I can remember to treat evryone with respect and treat them the way you are treated. I grew up with children with mental disabilities and played with them just like my other friends, To me , they were just another child. I saw nothing wrong with them, The 3 year old I care for goes to the girls house with her Mother sometimes, she loves the girl. Her Mom says she hugs and kisses Maria.

[BakerBrownies]

@Sheri451 I wish that was the way everyone was brought up, the world would be a much nicer place

[Sheri451]

@BakerBrownies Thank You, and thanks for responding to me.

[taylormckenzie8]

To the people who wrote the bad comments these beautiful girls cannot help the way they are and you shouldn't be making fun of them how would you feel if you were like them and people were making fun of you think before you talk!!

[floriboyo]

I'm sorry but i couldn't keep my laugh at 1:35

[Sheri451]

@floriboyo I would be ashamed of myself .

[SzChristie]

@ChristinePadillaELA Rett syndrome most often occurs as a result of a sporadic mutation, meaning that it generally doesn't run in families.

[vanerou]

@SzChristie As far as I know, this is an X - linked Dominant disorder, which means it runs in Families. But yes, it could be also due to sporadic mutations.

[taylormckenzie8]

Love you Jilly<33 xoxoxo

[taylormckenzie8]

i love you jen jilly justin griffy and colin

(: xoxoxxo

[AnakkiJenkins]

The girl at 1:55 has such a lovely smile!

[Morganzo7]

Nevermind, I found my own answer. While the gene mutation is a dominant one, >99% of cases are spontaneous mutations. Those interested should check out the OMIM gene database.

[Morganzo7]

Are those the biological parents in the video? The reason I ask is because Rett's is an X-linked dominant condition. Meaning, one (or both, but unlikely) of the parents MUST have the disease. Perhaps the affected parent has reduced penetrance or is a mosaic (Szchristie, do you know the parents?)?

[thesunsleepsatnight]

@Morganzo7 you can tell by looking at the mothers that they are the carriers.

[DylanandLukesmum]

I have nothing than compassion for the families affected with Rhett's. I had the priviledge of meeting a family with a little girl with it. Thank you for sharing this.

[itsmexarli]

May i ask, im going to report this on tuesday, how come that they are prone on having gastrointestinal problems? and rett's syndrome have 4 stages right? can you please elaborate it for me. thanks a lot. it will be a big help.

[SzChristie]

@itsmexarli Your first question is maybe a difficult one, because I didn't find anything about this, sorry! Yes, it has 4 stages: 1. The early onset stage, 2. The rapid destructive stage, 3. The plateau, 4. The late motor deterioration stage. I hope, I could help a bit!

[Mzkikiwilcoxson90]

I anit being mean but why is she doing that wit her handz??

[SzChristie]

@Mzkikiwilcoxson90 Because she can't coordinate her movements properly.

[rungazippa]

@Mzkikiwilcoxson90

If you are an adult - then you are being shallow and ignorant (and most likely in for some future Karma treatment). If you are a child then open your mind to the bigger picture and the suffering of those involved.

[marendoo]

@rungazippa It's like accidents, why should people get injured in accidents? Sometimes events go out of control, but somewhere in this is also our freedom.

[rungazippa]

@Mzkikiwilcoxson90

If you are an adult - then you are being shallow and ignorant (and most likely in for some future Karma treatment). If you are a child then open your mind to the bigger picture and the suffering of those involved.

[Rettsis]

@Mzkikiwilcoxson90 in a way you are being mean! she's ringing her hands! its in rett syndrome. If she's doing something with her hands that means it has to do with the disorder!

[mondiablue]

The lady with Alien Hand Syndrome has one hand that does this.

[ByeByeBelly]

I work in disability support with a 40 year old woman with Rett syndrome. She is non verbal, does not communicate in any way, doesn't look at you etc. The only thing she does is the hand movements, touching her mouth and will open her mouth to eat. Can anyone tell me how capable she is of perception, thoughts etc? She doesn't smile or anything? Is it likely she is totally unaware of her surroundings? No one at work can give me a clear answer... thanks

[SzChristie]

@ByeByeBelly Unfortunately I don't know anybody with Rett Syndrome, but I have two friends with Cerebral Palsy. Maybe it's a bit similar because they can't speak or coordinate their movements, but they went to a special school. One of them talk with Bliss symbols and the other one has a manager calculator. They have feelings even one of these people has a healthy husband who always knows what she wants. Perhaps, Wikipedia can help you better! :)

[Tookrati]

@ByeByeBelly

1.

Hi! I just started to support a 21yo girl with Rett.. She's non verbal to and she plays very often with her hands and gets a lot of strong an ~20min long epileptic attacs.

Well what I can tell you about her percetion is that she ist able to percet her entourage, but it totaly depends on how she feels.. like if she's nervous or something, she is totaly concentrated on her hands and she seems to be in some sort of trance..

[Tookrati]

@ByeByeBelly

2.

BUT, on the other hand for exemple, she gets a huge smile when she sees someone she knows or when someone sings a song she likes :) So I would say that I do think that she's able to percept what happends around her.. but I think it does depend on what kind of Rett she "suffers"(sry forgot the right word :) ) .

The problem with Rett, if i'm not totaly wrong, is that its a degenerative syndrom.maybe it's like "the older you get, the more you loose ur capacities/perception"

[dafnidanae]

i have a question..are they aware of whats happening to them?

[ctd104]

My daughter has Rett Syndrome. The new research that shows that we can reverse these symptoms is amazing! I truly hope and wish that we see it our lifetime.

[lioralourie2]

I just saw several videos on Youtube about stem cell treatments for Rett's, search for retts reversal and retts before after treatment to find them. Furthermore, 3years ago, the condition has been totally reversed in mouse models, but the gene therapy/drug is far away for humans. But what they discovered is that the nerves are not permanently damaged, they can be quickly restored. Check out stem cell therapy.

[xxxAlphaxxx5]

de 2nd girl is beautiful......btw is she drinking de food or eating?she seems happy

[CJEB4]

My son has severe autism, God didn't make our children this way, the toxic world man made did this to them. God wouldn't want us to just give up and shun him for that. He didn't stop this from happening to our kids, but he didn't cause this to happen either.

[potaka79]

@CJEB4 i dont want his forgiveness, i dont want to be saved. i want his help, my daughter wants his help, countless ppl around the world cry out for him, to help but he doesnt. you can keep your god. me and mine will do it ourselves.

[TehNetherlands]

@CJEB4 I'm sorry for your problems, but please don't act like your son's disability is man's fault, because obviously it's not. Nature isn't perfect and sometimes these things happen, it happens to humans just like it happens to other animals. The mechanics of nature simply don't care. If you believe God created nature, then it should naturally follow that God is responsible for your suffering. Man is not. In fact, only man is capable of helping your son.

[TehNetherlands]

@CJEB4 But if you are one of those people who actually believe that the so called 'Sin' of our world somehow caused your son's disability, then I don't even feel sorry for your predicament. It's religious dogma and retarded superstition like this that is holding back actual scientific research on these disorders. Support that people and research that might eventually help your son. Your fictional God didn't prevent it from happening, and he won't be there to cure him.

[CJEB4]

@TehNetherlands I don't even understand how your comment pertains to anything I said lol. I am always looking into research to help my son. I beleive in a God, but am not "religious" I just don't beleive it is "God's fault" that my son has severe autism, I think a toxic overload is what caused this, and because of my research and willingness to help him, my son gets better every day.

[asands123]

is there anyway to test for this syndrom prenatally?

[ctd104]

@asands123 No there is not. It requires a blood test which is sent to a genetic laboratory.

[armyof2brothers]

There is always hope, just keep praying

[kingcrimson234]

lolz normal fail

[Phoenix7412]

retts disorder

[nfsrf]

this is so depress make you want to die just to see smile on those poor childs faces

[andresrocha62]

Most individuals with Rett syndrome are female. Because the disease-causing gene is located on the X chromosome, a female born with a MECP2 mutation on her X chromosome has another X chromosome with an ostensibly normal copy of the same gene, while a male with the mutation on his X chromosome has no other X chromosome, only a Y chromosome; thus, he has no normal gene.

[taluzar]

is it only in girls?

[Mafia1905]

yes only girls and women can have it,

[DarkRebel15]

No thats not true. Boys with an xxy chromosome (Klinefelter's syndrome or XXY Syndrome) can have it too. Its very rare but i work with one.

[sweetmorena007]

there was a diagnosed case of it in 1995 in a male...but 99.5% of rs is in females...The male that did have it and they did a case study on, his 23rd chromosome was XXY

[roxerka]

poor kids... they cannot take any toy in their sweet hands... how sad... damn this world!!! kids shouldn ´t have such problems... they should only play and laugh...

why can ´t it go that way???

[ladyjane2001us]

I think one should thank God for all the great gifts he gave us, and for creating us in perfect health. BTW, Rett disorder is very rare, only 8 cases in every 100,000 population.

[egtsa]

I'm sure this doesn't make a parent with a RETT child feel any better. Yes, thank God for all that he created but also have empathy for those that are dealing with RETT or any other disease. Even though it's rare, there are way too many little sweethearts that have to go through it!

[dave4248]

Well said. My son is autistic. If God does exist, how much sense would it make to pray to the SAME GOD who made him that way in the first place?

[ctk86]

God existing doesn't mean that everyone has to have an easy life, it also doesn't mean that there aren't events of random chance.

[hobblyjig]

@dave4248 what's to say that your son isn't in a better situation than the rest of us? We can't see everything. Isaiah 55:8 For my thoughts are not your thoughts, neither are your ways my ways, saith the Lord.

[giggletronics]

@dave4248

I like you.

[TehNetherlands]

@ladyjane2001us Ah yes, we should also thank God for the millions born with disabilities, with no chance of ever living a normal life? We should thank God for the millions who died in natural disasters? Should we also thank God for the diseases and plagues that kill millions each year? Here's some information for you: THERE IS NO LOVING GOD. EITHER GOD DOES NOT CARE, OR GOD DOES NOT EXIST. Can we now please move on with reality and focus on the science that will actually get us somewhere?

[motapata]

@roxerka

poor us who have become slaves in this world and can not appreciate freedom of these innocent care free children..

at least their parents have something great and precious to live their life for

if this world is still spinning its because of these innocent children who always remain innocent..

[wowquit]

i really hope there is a cure, look like great kids

[febris1936]

Think that it is even worst the "Childhood Desintegrative Disorder". Here the falures start at the age of 2, more or less. At Desintegrative start at the age of 2 till 10, so they begin loosing their abilities. Parents look how, every year that goes by, their child is even worse than before. Anyway, both are very sad, need lots of patience and love. I wish them my very bests from Spain.

[Kane614]

These children are so beautiful.

[chizzle789]

1 male has had it and he died my frnds sis has it sad see pics of her in 1 of my vids

[xmen1923]

My Little Sister Has RETT SYNDROME.

[GrungeGirl83]

it is not a type of autism, it is classified on its own.

[MYCOMPTECH]

Yes it is.

It is classified as an Autism Spectrum Disorder by the "Diagnostic and Statistical Manual of Mental Disorders, Forth Edition Text Revised"

[wafflesaretasty]

My niece, Emma, has Rett Syndrome. She is 3 yrs. old, but as happy as can be. May I ask where you are located? I am sure my brother, WEmma, and my sister-in-law would love to meet you. Emma is my life, and I don't know what I would do with out her. Your daughter is beautiful!

[SzChristie]

Whose daughter, mine? I don't have any daughters, I just uploaded this video. I hope, Emma is fine. God bless her!

[annodog]

One fine day, children will not have to suffer like this. Until then, lets pray for these children and their families.

[brightsirius]

The rett syndrome appears on only girls .

[navywife1977]

Actually it can occur in boys but is very rare.

[PereketusaPowa]

Are you sure of that??????

[navywife1977]

Yes, I'm sure. I'm waiting for the results of genetic testing on my son.

[donnagenz]

rett occurs due to a mutation on the MecP2 gene on the X chromosome. It is usually fatal in males because they have only one X chromosome in each cell, so every cell has the "bad" gene. Females have 2 X chromosomes in each cell, so it may not be as severe, since the body will only activate one X in each cell, and some "good" copies are activated along with some which carry the mutation. Severity of symptoms depends on the X activation pattern. (I have a daughter with rett syndrome)

[donnagenz]

a boy with rett will seem quite severe, but given the nature of the disorder, he must be VERY strong indeed! my prayers are with the mom waiting for results on her son.

[ABAisSCIENCE]

Someone please type in the doctor's name who did the reversal and the title of the research article published.

[NicolaMonk]

The reversal was done with mice.

[ABAisSCIENCE]

ABA may be good for autism, but in the case of Retts disorder it was not as successful an intervention (Smith, T., Klevstrand, M., & Lovaas, O. I., 1995).

Still if reversal of features helps with learning it pays to keep in mind that science on how people learn is still true.

ABAisSCIENCE

ABA just needs some help for learning to take place with this one.

[pixie1310]

That little girl, Jill, is SO CUTE!!

[jonasluvr4evr]

My little sister also has Rett Syndrome.

I hope everyday for a cure.

[35provehito35]

my little sister has Rett Syndrome too....

I pray every day to find a cure...

[jonasluvr4evr]

I do too..... Last Year on American Idol, a girl named Angela Martin Auditioned, made it through but was voted off, I think i saw her last night if so, if she makes it past Hollywood, she is gonna need our votes!

[Doinkblink]

Holly is 32 now. I lost count of the seziures, the long hours at hospitals, the meds, the tears anbd fears, all those years of trauma she survived through.

As I type this, she is nearby moaning to me, telling daddy something? She laffs, she cries, but her big eye smile melts us like hot wax.

I just want to say that Terri Shiavo's ex husband was a total jerk! He was brain DEAD! They should have starved him instead. She was an angel too. God help us all! And God bless our lovely angels!

[N0ahfrank]

My sister has Rett Syndrome, I appreciate the video. My best advice to any parent or family member is ACCEPTANCE. Look at it this way, your daughter/sister etc. is 1 in 10,000. She will teach you more than you can imagine if you simply accept her for all she is. Everything happens for a reason. This is not a burden, but a sacred blessing in disguise. Live, Learn, Love.

[erialcaehr]

wow great!!!

[marshmelotz]

i live in fear of this, everytime i look at my baby girl i am full of worry and break down. dont know how to deal with it.

God Bless you all and your beautiful children.

[GracefullTiger]

:'(

[rAWRRRcoolness]

Good luck, I hope you guys find a cure. God bless you and your family, best of luck.

[farawolah]

This is first time i know about Rett syndrome..

It's so difficult!

[SzChristie]

When I posted this video that day was the first I heard about this disorder and I think, very interesting, but it's true... difficult...

[Doinkblink]

We did NOT know what Holly had for a very long time, the ducktor's just said, "we don't know what she has"? I found out about RS when I saw Julia Roberts neice on a TV movie, I think it was called Silent Angels on the Health channel. That was when Holly was like 25. She has classic symtums, so I could recognise it like in the movie. Her neuro-doc was in denial and ignorant. Now he says she has "apparent" RS, duh, her 'parent' told him about it, if he'd only do some research? awareness