The doctor is clear and concise, as well as thoroughly informative. But what is most striking, is his positive outlook, which inspires hope. Well done, sir, keep up the good work.
How sad to have a seemingly perfectly normal baby and then 12 months in, your baby loses the ability to talk, walk, process, starts having seizures, etc. Heartbreaking.
It is devastating. Our girl is 2 years and 7 months old and it’s been a challenge. The last time I saw her smile without being asleep dreaming was last year in December.
- a l i c e - I’m sorry Alice, I forgot there are some boys with Rett’s. I have a niece with it (she’s 42!), but seems very happy. All we can do is love ‘em, right?
There are too many inaccurate comments about males with Rett syndrome at the bottom of this comment section. If you are a family member whose little boy has just been diagnosed with Rett syndrome, please ignore any comment about males with Rett syndrome here because the facts are mostly off and there’s a lot of negativity. Please don't lose hope for your little boy! Here are the FACTS we DO know at this time. - Even though it is rare, males can DEFINATELY have Rett Syndrome. - Males with Rett syndrome can have 1) Atypical Rett Encephalopathy, 2) Klinefelters Syndrome (XXY), 3) Classic Rett -Mosaic 4) males with previously unknown variant. - There are over 50 + known cases of males with Rett Syndrome today and probably more. - They range from infancy to adulthood. There are adult males living with Rett Syndrome. There are teenage males living with Rett syndrome. - They have a wide array of Rett presentations. - Some of the males were originally misdiagnosed or their diagnosis was delayed for years. Misdiagnosis matters! Misinformation or information that has not been updated matters!
That's cause almost all of the affected males die in utero or shortly after birth ,as they don't have an extra (normal) X chromosome to offset the mutated one
@@_AbhiRam_ You are speaking about a group you have clearly never studied, or provided care to. It's a careless thing to do. It's words like this that continue to negatively impact the lives of these boy's and their families and that is wrong. Read up on mosaic mutation's, Klinefelter's syndrome, late truncating mutation's and Rett encephalopathy BEFORE you add to the mountain of inaccurate, or only partially accurate, information that already exists about this population. These boy's have hard lives, why add to their struggle?
@@vickyg69 that wouldn't be possible since males can't even live their first few weeks, males with this syndrome would likely die in utero or shortly after birth
@@zakariaalkishik its not impossible, though its very likely that males with retts die young it doesnt happen to every male born with it. you can google “boys with retts”
As an equestrian who’s done many service hours and personally had lessons with a woman who (I think) endures this syndrome (it was like 20 years ago so I don’t remember exactly), the horse therapy part had me in tears. I watched her grow so much along with many other girls, boys, women, and men… and even all of us who hand walked those horses. If you’re an equestrian, PLEASE try volunteering for special needs people. It’s the most amazing thing to watch human beings find control over their bodies and/or voice, and find some peace ❤
My friend's daughter has Rhett. It took 2 years before she was diagnosed. She can walk, but has no hand or arm coordination. She cannot talk. She has a computer with pictures and her parents are able to communicate with her through the computer. She's 12 now and her parents are very involved with the Rhett foundation and have a fundraiser every year. From what I've learned from them is that it occurs predominantly in females and there's not enough money put towards the research involved that's needed to find a cure. That's why they put on a fundraiser. Hopefully they'll have a cure, soon. 🙏
2 competing rett hospitals disliked this video... thats really the only plausible reason i can muster why someone would hit the dislike, maybe it was an evil dislike bot. I will never know...
My aunt had this. A 9 month old in an adults body. So sad, she died before I was born. My cousin was born 1 month before she died and my grandma was always taking care of her to cope with the death of her daughter/my aunt.
Hi Claudia, as a support worker that has worked with girls with rett there is lots of hope for your girl. She will grow into a lovely young woman, challenges are to be expected but there is a great quality of life to be had. Xx
I hope that there will be cooperation between you and the Kingdom of Saudi Arabia. We have schools. My daughter entered school from the age of three and could not learn anything good. They are very bad. We have education. I hope that my daughter will study in this hospital, but I do not have enough money for that. I wish the government would send me and my daughter Here she is twenty years old, she has a disease of Ret Sandrum and I am forty years old. I wish to live in America and treat my daughter. I hope she learns to go to the bathroom and clean herself, and I was unable to teach her.
If it is a sex linked gene causing this condition I would have suspected it to affect boys more due to the presence of one X chromosome, or is it because of X chromosome shut down in girls that allow the girls to become viable? In which case surely those females who are homozygous carrying this gene would not be viable, which would also lead me to ask are all females who suffer from this heterozygous? Assuming mono-hybridism
From GARD: "Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition."
The disease is so sever in males, they die in the womb or shortly after birth due to having one X chromosome only! as you stated, the disease is more sever in males!
@@zakariaalkishik You need to refer to an expert on this subject, because passing on inaccurate information is actually harmful to these boys and their families. Having a keyboard doesn't make someone an "expert" either. An "expert" is a physician who actually treats MULTIPLE patient's with Rett syndrome at a Rett syndrome clinic, and has published studies on males with Rett syndrome. There are around 10-12 of them out there and the RIGHT thing to do is direct question's to experienced experts.
That is a really great question. My daughter (Sadie in this clip) is now 17. She can use an eye gaze system and tell me her needs, wants and how she is feeling. All Rett children are different and have different abilities. Sadie never had any words, but I have met some Rett children that do have some words. I think the more research there is, the more we will understand what is going on in their minds. Sadie has told me recently that she wants her and I to go to Mexico and go on a slide. LOL I will be planning a trip to Mexico soon. HaHa Great question! And thank you for asking!
My brother have 3 kids all girls two of them rett syndrome victims one is not because she's haven't feed by mother in 3months my relative have same case two of them rett syndrome victims one is not because she also haven't feed by mother .now I have doubt may be there something wrong with mother feeding I main cause of rett syndrome.plzz (confirm sry for bad English)
Many dieases have genetic testing and your job as a potential parent is to be responsible and take those tests regardless of cost, chances of u being a carrier, inconvenience etc. Then u won't feel guilty later for something u could have prevented
Prevent how? While SOME conditions are treated while pregnant, I recall genetic screening being recommended so we could decide (if a "troubling" condition existed) to abort or not. So before you chastise parents for not being screen make sure you understand what the purpose of it is. It is not like getting a vaccine or doing something to protect your child.
How about using CRIPR to delete one of the copies the MECP2 gene, or maybe one of the entire X chromossomes? I mean, males can live with only one X chromossome. Sure, males have shorter lives due to not having "backup" copies of the genes of the X chromossome, but that is still better than having Rett's Syndrome. Given a choice, most women with Rett's Syndrome would still rather have a shorter, male-typical lifespan rather than having Rett's Syndrome.
The doctor is clear and concise, as well as thoroughly informative. But what is most striking, is his positive outlook, which inspires hope. Well done, sir, keep up the good work.
Yep
I hope he wasn't forced to retire. I can tell he really wanted to do more to help these children.
@@scootermom1791 I am with you on that!
How sad to have a seemingly perfectly normal baby and then 12 months in, your baby loses the ability to talk, walk, process, starts having seizures, etc. Heartbreaking.
It is devastating. Our girl is 2 years and 7 months old and it’s been a challenge. The last time I saw her smile without being asleep dreaming was last year in December.
@@tarragoncake1556 How painful that must be. I hope things get better for her and your family. I can’t imagine the feelings of helplessness.
@@tarragoncake1556 I’m so sorry to hear this. If you don’t mind me asking, what were the first symptoms?
My sister has this she 1l4 now h was diagnosed at 1year old she's now on palliative care
@@tarragoncake1556my daughter is having retts too. what can we do to ease her life
Yes, keep up the research, all Rett’s girls deserve a better quality of life.
don't forget about rett's boys too! this video makes it seem like males never get diagnosed with rett syndrome.
- a l i c e - I’m sorry Alice, I forgot there are some boys with Rett’s. I have a niece with it (she’s 42!), but seems very happy. All we can do is love ‘em, right?
Boys too not just girls!!! Stop making selfish comments too.
@@vickyg69 that’s with everything nowadays smh
@@sarahsmith9430 fr 😒
I am a caregiver to a 16 year old girl with Rett Syndrome. I have been with her for 8 years now. I love her so much.
There are too many inaccurate comments about males with Rett syndrome at the bottom of this comment section. If you are a family member whose little boy has just been diagnosed with Rett syndrome, please ignore any comment about males with Rett syndrome here because the facts are mostly off and there’s a lot of negativity. Please don't lose hope for your little boy!
Here are the FACTS we DO know at this time.
- Even though it is rare, males can DEFINATELY have Rett Syndrome.
- Males with Rett syndrome can have 1) Atypical Rett Encephalopathy, 2) Klinefelters Syndrome (XXY), 3) Classic Rett -Mosaic 4) males with previously unknown variant.
- There are over 50 + known cases of males with Rett Syndrome today and probably more.
- They range from infancy to adulthood. There are adult males living with Rett Syndrome. There are teenage males living with Rett syndrome.
- They have a wide array of Rett presentations.
- Some of the males were originally misdiagnosed or their diagnosis was delayed for years.
Misdiagnosis matters! Misinformation or information that has not been updated matters!
Thank you for sharing.
That's cause almost all of the affected males die in utero or shortly after birth ,as they don't have an extra (normal) X chromosome to offset the mutated one
@@_AbhiRam_ You are speaking about a group you have clearly never studied, or provided care to. It's a careless thing to do. It's words like this that continue to negatively impact the lives of these boy's and their families and that is wrong. Read up on mosaic mutation's, Klinefelter's syndrome, late truncating mutation's and Rett encephalopathy BEFORE you add to the mountain of inaccurate, or only partially accurate, information that already exists about this population. These boy's have hard lives, why add to their struggle?
@@_AbhiRam_ This is outdated information that has been disproved in numerous medical journal articles.
my sister have this, so this is very heart breaking
my brother has retts
tori so sorry 💙
My great nice has the same thing. Is really heartbreaking see her without talking or walking.
@@vickyg69 that wouldn't be possible since males can't even live their first few weeks, males with this syndrome would likely die in utero or shortly after birth
@@zakariaalkishik its not impossible, though its very likely that males with retts die young it doesnt happen to every male born with it. you can google “boys with retts”
5:06 Blue bird circle center!!!! Awsome, wholesome , caring center. My daughter was referred to them as a child. Diagnosed. Shes 30 now.
As an equestrian who’s done many service hours and personally had lessons with a woman who (I think) endures this syndrome (it was like 20 years ago so I don’t remember exactly), the horse therapy part had me in tears. I watched her grow so much along with many other girls, boys, women, and men… and even all of us who hand walked those horses. If you’re an equestrian, PLEASE try volunteering for special needs people. It’s the most amazing thing to watch human beings find control over their bodies and/or voice, and find some peace ❤
This is so sad. These poor children are suffering. I hope we can find a cure soon!
My twin sister suffers from Rett syndrome and does therapeutic horse back riding at the exact place shown in this video.
I hope she's happy today 🤗 and you too
thank you so much for this informative video!
This is my sadie
Mommy
Hope they find the right treatment and a good future
That little girl in the pink star shirt was my sister today December 2023 she is doing amazing her birthday was the other day!❤️❤️
My friend's daughter has Rhett. It took 2 years before she was diagnosed. She can walk, but has no hand or arm coordination. She cannot talk. She has a computer with pictures and her parents are able to communicate with her through the computer. She's 12 now and her parents are very involved with the Rhett foundation and have a fundraiser every year. From what I've learned from them is that it occurs predominantly in females and there's not enough money put towards the research involved that's needed to find a cure. That's why they put on a fundraiser. Hopefully they'll have a cure, soon. 🙏
2 competing rett hospitals disliked this video... thats really the only plausible reason i can muster why someone would hit the dislike, maybe it was an evil dislike bot. I will never know...
How can I see who liked/disliked it
I actually didn’t know this syndrome existed until about 2 minutes ago as of now
My aunt had this. A 9 month old in an adults body. So sad, she died before I was born. My cousin was born 1 month before she died and my grandma was always taking care of her to cope with the death of her daughter/my aunt.
Typically the anti-seizure medication causes severe constipation. How is that dealt with?
My cousin and aunt have this.
excellent...thank you.. why the annoying music ?
I can’t wait to there the 8 next month this brings a lots of hope for my girl who has Rett syndrome
Hi Claudia, as a support worker that has worked with girls with rett there is lots of hope for your girl. She will grow into a lovely young woman, challenges are to be expected but there is a great quality of life to be had. Xx
@@TheJess124 thanks for your replay it brings a lot of hope ❤️❤️
@@claudiacalderin3984 if you don’t mind me asking, what were the first symptoms?
@@whitneykuhn2780 regression on everything like crawling, grabbing objects, talking around seven months old my daughter stop doing those things
I hope that there will be cooperation between you and the Kingdom of Saudi Arabia. We have schools. My daughter entered school from the age of three and could not learn anything good. They are very bad. We have education. I hope that my daughter will study in this hospital, but I do not have enough money for that. I wish the government would send me and my daughter Here she is twenty years old, she has a disease of Ret Sandrum and I am forty years old. I wish to live in America and treat my daughter. I hope she learns to go to the bathroom and clean herself, and I was unable to teach her.
My cousin only can stand when she has a seizure..
And that was my mom picking her up
If it is a sex linked gene causing this condition I would have suspected it to affect boys more due to the presence of one X chromosome, or is it because of X chromosome shut down in girls that allow the girls to become viable? In which case surely those females who are homozygous carrying this gene would not be viable, which would also lead me to ask are all females who suffer from this heterozygous? Assuming mono-hybridism
From GARD: "Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition."
The disease is so sever in males, they die in the womb or shortly after birth due to having one X chromosome only! as you stated, the disease is more sever in males!
Maybe it's X linked dominant
In boys who survive after birth it's called mosaic rett syndrome I believe
It doesn't affect their whole body or something
@@zakariaalkishik You need to refer to an expert on this subject, because passing on inaccurate information is actually harmful to these boys and their families. Having a keyboard doesn't make someone an "expert" either. An "expert" is a physician who actually treats MULTIPLE patient's with Rett syndrome at a Rett syndrome clinic, and has published studies on males with Rett syndrome. There are around 10-12 of them out there and the RIGHT thing to do is direct question's to experienced experts.
Does it affect their intelligence?
That is a really great question. My daughter (Sadie in this clip) is now 17. She can use an eye gaze system and tell me her needs, wants and how she is feeling. All Rett children are different and have different abilities. Sadie never had any words, but I have met some Rett children that do have some words. I think the more research there is, the more we will understand what is going on in their minds. Sadie has told me recently that she wants her and I to go to Mexico and go on a slide. LOL I will be planning a trip to Mexico soon. HaHa Great question! And thank you for asking!
💚💚
Does it only happen to girls.,,?
Its happens to boys too but it affects the X chromosome and boys only have 1 X chromosome (while girls have 2) so they usually dont make it to birth
No
@@ashleystanisclasse6139 Lucky us.
It can happen to boys, but rarely and it affects them far, far more severely. Mostly to girls
Yep this is my sister
27 aug 2021
today doc told me
my 2 year daughter has rett syndrome
its really very heart breaking
What treatment you are taking for her
@@asifaadnan8875
pgi chandigarh
@@irajgupta what
@@irajgupta what about her recovery
My brother have 3 kids all girls two of them rett syndrome victims one is not because she's haven't feed by mother in 3months my relative have same case two of them rett syndrome victims one is not because she also haven't feed by mother .now I have doubt may be there something wrong with mother feeding I main cause of rett syndrome.plzz (confirm sry for bad English)
Many dieases have genetic testing and your job as a potential parent is to be responsible and take those tests regardless of cost, chances of u being a carrier, inconvenience etc. Then u won't feel guilty later for something u could have prevented
Prevent how? While SOME conditions are treated while pregnant, I recall genetic screening being recommended so we could decide (if a "troubling" condition existed) to abort or not. So before you chastise parents for not being screen make sure you understand what the purpose of it is. It is not like getting a vaccine or doing something to protect your child.
You know I have rettsydrome?
WWJD - What would Jesus do?
How about using CRIPR to delete one of the copies the MECP2 gene, or maybe one of the entire X chromossomes? I mean, males can live with only one X chromossome. Sure, males have shorter lives due to not having "backup" copies of the genes of the X chromossome, but that is still better than having Rett's Syndrome. Given a choice, most women with Rett's Syndrome would still rather have a shorter, male-typical lifespan rather than having Rett's Syndrome.