My sister had Sanfilippo Syndrome Type A and she lived until she was 45 years old. No doctor has an explanation for why she was able to live that long. Reagan's face and blue eyes remind me so much of her. My best advice, if anyone needs one, is treat your child/sibling/friend with this desease no different to any other person. You can communicate without words and you can share love with that person no matter what. Try to be useful, try to give her/him all the same opportunities and nice moments as you have. The things you can learn and the love you can share are the most powerful things in this life
My advice is when u decide u want to have kids be a parent and responsible then and not later and get genetic tests for everything under the sun regardless of cost or whether or not u maybe a carrier so u don't blame yourself later when your child is terminal and u could have prevented it
@@monababtain588 Actually, this syndrome happens when both parents are carriers, so you can test both parents before they start having kids to see if they carry the gene mutation.
I babysit a child with Sanfilippo Sydrome. One of that characteristics is a low-set heavy brow. She has a rough life ahead of her just as all the children with this do. Its so sad people can't see past little thing and realize these kids are special and they shouldn't be talked bad about. So, I don't see why what her eyebrows look like is so important. She's great!
I know a young lady with this. She's in her twenties. She can eat but she can't talk. She laughs and makes noises. And claps. She's adorable. She also has very unsteady balance.
@@christinaandisaiah if it was needed yes, why does that mean I don't need kids? NO ONE "NEEDS" kids. I have 5... I love all of them. They are my life. So don't sit there and tell me what I "need".
@@christinaandisaiah Did I say anything hurtful? Nope. Did I say anything offensive? Nope. AM I not allowed to have an opinion? She's a GORGEOUS little girl. SO... STFU
My sister has Sanfilippo syndrome and the life expectancy is about 15 years old I totally understand what it is like and I am so sorry I am keeping y’all in my prayers I hope this gets better for you and everybody else that has it I am so sorry and keeping y’all in my prayers
I really hope a cure can be found but knowing this video is 6 years old it might be too late for this little girl. Hopefully her story will lead to a cure for younger kids with this.
Комментарий, скорее для тех, кто ещё посмотрит это видео, потому что его ребенку недавно поставили такой диагноз, чтобы разобраться в этом немного, как я... Моему сыну 8лет сейчас. В 7.5 лет ему впервые поставили такой диагноз. До этого была задержка большая в развитии, речи не появилось, стоял диагноз аутизм и СДВГ, врачи просто сами не предположили ни разу, хотя узнав, чем дети санфилиппо похожи, я сразу приняла, что наш сын действительно похож на них, как будто они братья.
I’m just wondering if Sanfilippo disease causes physical facial features besides bushy eye brows because I’ve been trying to educate myself on it and seeing tons of other kids stories with it and almost all of the girls I’ve seen have had very similar facial features to hers not just the eye brows and even the hair color was similar for most but not all. I really hope you find a cure and if I was an adult I would definitely donate!
Firstly shes gorgeous and I pray they find a cure for her. Secondly I've been growing out my unibrow for a little over 14 months and shes a whole vibe with hers. Frida would be so proud!💛❤💛🫂
Ok so in the comments, I have been seeing comments about the eyebrows before she got diagnosed, she had normal eyebrows probably everybody who has the syndrome gets it so yeah
you have such a beautiful little girl. what an angel! Our Lord has entrusted you with her care. I would say that was an absolutely perfect match! God bless you both!
I’ve watched several of these videos, and I’m alarmed, saddened and angry that parents discuss the fatal aspects of the disease in front of their children, when the child could still speak. I mean, how do they know how much the child can still understand??
I doubt she understands what they’re saying honestly. I’m autistic and never even understood what autism actually is or does until in my preteens. My parents always talk about my autism in front of me and I still didn’t understand. I also have a brother with Down’s syndrome who doesn’t understand death.
i worked with a forty something yr. old fellow with Sanfilippo syndrome. His sister, a few yrs. younger, also lived in the facility. the sister didn't like blondes, so i didn't work with her. Her brother was a hoot and i loved working with him. you never knew what he was up to, next! i hope they find a cure, today!!!
I babysit a sanfilippo syndrome child and me and my mom noticed that she was delayed. They went to 10 doctors but all she was predicted was with a.d.h.d . They do both. Keira or the girl with sanfilippo started running away and getting really hyper and she went from saying "please" and "thank you " to nothing at all
Yeah, the failure to meet milestones and loss of previous ones often make a pediatrician refer the child to a peds geneticist. They then run a genetic panel. They even can suspect a certain disease based on presentation, like physical appearances. (For example: cherry red spots in eyes for Tay-Sachs, coarse facial features in Sanfilippo.) Since the Sanfilippo genes have been identified, it can be a confirmation of the diagnosis, but yeah, there are definitely signs in the first year or two of life, sometimes sooner that make them run the tests.
Lol, 3 years late but anyway- Sometimes they meet milestones normally. But generally there are delays, regressions, autism and/or ADHD-like behaviors. And coarse facial features are a strong genetic component with something like Sanfilippo that are going to be quite a noticeable from other kids their age by age 1 or 18 months or so. And if they don’t get very dramatic facial features their parents would notice, a doctor certainly should and send them to a geneticist. But even if it’s a first child there’s going to be developmental and behavioral signs that stand out early on.
Rosemarie Plant How? Both are conditions caused by metabolic wastes building up that lead people to lose their skills and eventually die. The one this girl has just takes longer.
We get tested for tay sachs and many of us also choose to get tested for many of the other disorders since most of them hit us jews of ashkenazi decent. This gentile probably didn't get tested. There's a test for this I think.
@@annagitana1 yes I fully understand that but there seem to be alot of comment saying that there are people in the comment section who are talking about her eyebrows. I am looking for these people because as you said it's obvious that her eyebrows are like that because of her condition and I wonder why these people would even mention them.
Doesn't make a lot of difference if you like her or not but her eyebrows are a symptom of the disease. Would you make a similar insensitive comment about someone with a birthmark or a missing limb?
@@-._-._ i have a right to my opinion...and the many parents groups formed after their kids got autism etc after vaccination have a right to their opinion...why dont u ask them what devastating result THEIR kids got directly after vaccination! my friends baby DIED within HOURS of getting a vaccination!!
@@thewildetyme1112 there are parents groups formed regarding this due to the emergence of autism vaccine damage in their kids DIRECTLY after the kid got their vaccines full of mercury, aluminum etc...perhaps you should ask THEM...
@@Lauren-vd4qe you do have a right to an opinion, however it is VERIFIED FACT that a inherited genetic disorder is not down to vaccines. So your option here is irrelevant, and having watched parents with children suffering from this disease and diseases somewhat similar, it upsets them when people claim this, because it is entirely false and just rubs salt into the wound. In order for a child to have Sanfilippo syndrome they must inherit a faulty gene from each parent as it is a gene mutation carried on a recessive allele meaning it will only be “expressed” if both alleles inherited have this faulty gene. This mutation causes an inability to break down large sugar molecules, due to an issue with the enzyme that is responsible for this. VACCINATIONS CANNOT CAUSE HEREDITARY DISEASES. I would advise you don’t comment things like this on videos that parents who have just found out/parents that have children with this disease may see as it is incredibly insensitive and downright incorrect. I am passionate about this subject as after watching mothers being so strong whilst their children are battling diseases like this online, I feel like they deserve as many people as possible to be educated on the subject. This is one of the many reasons that I am going to med school, to possibles help join the fight against rare diseases and also to gain more knowledge to educate people that spread dangerous misinformation like this. By all means it’s you’re choice to not be vaccinated, however spreading dangerous misinformation is not okay :(
Would you want to walk around with shaved eyebrows? That would actually look far weirder than her natural brows. In case you hadn't noticed there are lots of top models with eyebrows as heavy as this so she's not the freak that you are making her out to be. The days of pencil thin Twiggy eyebrows are long gone.
My sister had Sanfilippo Syndrome Type A and she lived until she was 45 years old. No doctor has an explanation for why she was able to live that long. Reagan's face and blue eyes remind me so much of her. My best advice, if anyone needs one, is treat your child/sibling/friend with this desease no different to any other person. You can communicate without words and you can share love with that person no matter what. Try to be useful, try to give her/him all the same opportunities and nice moments as you have. The things you can learn and the love you can share are the most powerful things in this life
Fly high sweet girl 🕊 ♥️
My advice is when u decide u want to have kids be a parent and responsible then and not later and get genetic tests for everything under the sun regardless of cost or whether or not u maybe a carrier so u don't blame yourself later when your child is terminal and u could have prevented it
@@chanabayla1823 Genetic testing doesn’t work like that, some diseases are inevitable
@@monababtain588 Actually, this syndrome happens when both parents are carriers, so you can test both parents before they start having kids to see if they carry the gene mutation.
@@chanabayla1823
And you’re acting like in all countries genetic testing is easily accessible and affordable. It isn’t.
I babysit a child with Sanfilippo Sydrome. One of that characteristics is a low-set heavy brow. She has a rough life ahead of her just as all the children with this do. Its so sad people can't see past little thing and realize these kids are special and they shouldn't be talked bad about. So, I don't see why what her eyebrows look like is so important. She's great!
The*
Do you know if she'll ever be able to live independently?
I was wondering about her eyebrows but didn't want to be rude. Ty for commenting about it. She is so cute.
@@raikouisawesome4074 no because it's most likely the pass in mid to late teens and they eventually stop talking and walking
@@raikouisawesome4074 no, it only gets worse as they age. they lose motor and verbal skills, etc. the life expectancy is mid to late teens.
I know a young lady with this. She's in her twenties. She can eat but she can't talk. She laughs and makes noises. And claps. She's adorable. She also has very unsteady balance.
@raffle ticket What type sanfillipo does she have ? and do you remember what age she was diagnosed at?
@raffle ticket Thanks. My daughter is type B, diagnosed at 3.5 and is 16 in March.
Kızınız şuan nasıl
She's one brave little girl.praying for her
why is everyone talking about her eye brows. its the least of her worries.
Her brows are crazy. I'd wax em.
@@martinemikita9281 You would wax a toddlers eye brows? You don't need kid's.
@@christinaandisaiah if it was needed yes, why does that mean I don't need kids? NO ONE "NEEDS" kids. I have 5... I love all of them. They are my life. So don't sit there and tell me what I "need".
@@christinaandisaiah Did I say anything hurtful? Nope. Did I say anything offensive? Nope. AM I not allowed to have an opinion?
She's a GORGEOUS little girl. SO... STFU
@@martinemikita9281Ummmm, waxing eye brows is painful for adults. Why in the hell would you do that to a toddler? You are PURE IGNORANT!
My sister has Sanfilippo syndrome and the life expectancy is about 15 years old I totally understand what it is like and I am so sorry I am keeping y’all in my prayers I hope this gets better for you and everybody else that has it I am so sorry and keeping y’all in my prayers
Hello, I know your comment was 3 years ago but just wanted to reach out and see how your sister is doing? Are you doing ok also? Stay strong
Her eyes are so beautiful!
wow. she’s so brave! I can’t imagine how it must feel like to be her parents. wish you all the best ❤️
I really hope a cure can be found but knowing this video is 6 years old it might be too late for this little girl. Hopefully her story will lead to a cure for younger kids with this.
Rest In Peace, little one.
You didn’t deserve the hand you were dealt. ❤️
Did she pass away?
@@stagename1031yes in 2019
She's so cute!!
Do people not realize that her eyebrows are a characteristic of her disorder?
Комментарий, скорее для тех, кто ещё посмотрит это видео, потому что его ребенку недавно поставили такой диагноз, чтобы разобраться в этом немного, как я...
Моему сыну 8лет сейчас. В 7.5 лет ему впервые поставили такой диагноз. До этого была задержка большая в развитии, речи не появилось, стоял диагноз аутизм и СДВГ, врачи просто сами не предположили ни разу, хотя узнав, чем дети санфилиппо похожи, я сразу приняла, что наш сын действительно похож на них, как будто они братья.
sorry but I do not see a unibrow. all I see is a beautiful baby girl.
Same. These idiots are talking about eyebrows. She is an awesome, beautiful 2 year old. I have Asperger's syndrome, DON'T LET ANYONE ,AKE FUN OF YOU
+Gamertastic 101 make
+Gamertastic 101 you can barely tell, but I do.
You are right
I'm worried about her unibrow. Suppose she's in school and people call her “unibrow face”?
Prayers for this beautiful baby girl and her family 🙏🙏🙏
she’s so brave
Beautiful family and little girl :)
God Bless Beautiful Reagan
My prayers go out to you God bless
I have two siblings with Sanfilippo a little brother who's 8 and a little sister who will be 13 in November.
Thanks for watching and sharing, Destiny!
this is very informative. i wish you and your family wellness.
She's so cute😩❤️
Is there an update for this beautiful little girl?
She passed in July 2021. 💔
Bc of her age, she qualifies for a stem cell transplant, ive resd about 2 kids who had and the progression slowed down significantly
I’m just wondering if Sanfilippo disease causes physical facial features besides bushy eye brows because I’ve been trying to educate myself on it and seeing tons of other kids stories with it and almost all of the girls I’ve seen have had very similar facial features to hers not just the eye brows and even the hair color was similar for most but not all. I really hope you find a cure and if I was an adult I would definitely donate!
I hope she is OK to
I hope she if still ok
Hope, wish, dream ...
well...I never knew I could effect so many people... :/
Dylan Sanfilippo: Of course, you can. Do so in a positive way.
Dylan Sanfilippo lol
lauren styles boi 😂
Lmfao. How crazy is that?
Lol. This video needs some lighthearted comedy
Firstly shes gorgeous and I pray they find a cure for her. Secondly I've been growing out my unibrow for a little over 14 months and shes a whole vibe with hers. Frida would be so proud!💛❤💛🫂
Most kids with this disease all look alike... they have thick coarse eyebrows, etc. I dont think they know why they look alike though .
I ❤️her eyebrows x
I grew up with a set of twins that had this disease. It's just horrible.
Sending love and strength your way. 💓
She passed in July 2021
Would blood Chelation or even CRISPR genetic help?
Ok so in the comments, I have been seeing comments about the eyebrows before she got diagnosed, she had normal eyebrows probably everybody who has the syndrome gets it so yeah
you have such a beautiful little girl. what an angel! Our Lord has entrusted you with her care. I would say that was an absolutely perfect match! God bless you both!
If it’s a buildup of waste, would regular blood transfusions not work?
Cellular waste products will damage cells from the inside, and can build up in places where a blood transfusion couldn’t help
I’ve watched several of these videos, and I’m alarmed, saddened and angry that parents discuss the fatal aspects of the disease in front of their children, when the child could still speak. I mean, how do they know how much the child can still understand??
good point
I doubt she understands what they’re saying honestly. I’m autistic and never even understood what autism actually is or does until in my preteens. My parents always talk about my autism in front of me and I still didn’t understand. I also have a brother with Down’s syndrome who doesn’t understand death.
Prayers!
Is the unibrow a part of it? Cause ive noticed quite a few with this have one.
J. Clowers yea it's part of their facial features
a substance that gradually destroys all the cells in the body is stored to a large extent into the hair ..
This is so sad.
My son has Sanfilippo Syndrome type A.
Is he ok???
Really I hope he is ok and that he does well in life xx
+raffle ticket I'm sorry
+raffle ticket how old is she?
i worked with a forty something yr. old fellow with Sanfilippo syndrome. His sister, a few yrs. younger, also lived in the facility. the sister didn't like blondes, so i didn't work with her. Her brother was a hoot and i loved working with him. you never knew what he was up to, next! i hope they find a cure, today!!!
It is interesting the children all have the same look.
Not quite all of them I've seen some that had no defining features that most do.
She's so cute I just so sad
How is she now?
They have a Facebook page called Regan's Hope.
This disease has an oddly deceptive name. It reminds me of a vacation resort. But it makes me sad.
Все время думаю о мальчике с Камчатки, у него такой же недуг( как жалко малышей. За что им такие болезни???? Окружите любовью этих детей!
She is a beautiful little girl would stem cell therapy help her?
Is cdsl syndrome similar to this .
Why did they even think that their child had something? Was she acting different or was it just because she was delayed?
I babysit a sanfilippo syndrome child and me and my mom noticed that she was delayed. They went to 10 doctors but all she was predicted was with a.d.h.d . They do both. Keira or the girl with sanfilippo started running away and getting really hyper and she went from saying "please" and "thank you " to nothing at all
Yeah, the failure to meet milestones and loss of previous ones often make a pediatrician refer the child to a peds geneticist. They then run a genetic panel. They even can suspect a certain disease based on presentation, like physical appearances. (For example: cherry red spots in eyes for Tay-Sachs, coarse facial features in Sanfilippo.) Since the Sanfilippo genes have been identified, it can be a confirmation of the diagnosis, but yeah, there are definitely signs in the first year or two of life, sometimes sooner that make them run the tests.
Lol, 3 years late but anyway- Sometimes they meet milestones normally. But generally there are delays, regressions, autism and/or ADHD-like behaviors. And coarse facial features are a strong genetic component with something like Sanfilippo that are going to be quite a noticeable from other kids their age by age 1 or 18 months or so. And if they don’t get very dramatic facial features their parents would notice, a doctor certainly should and send them to a geneticist. But even if it’s a first child there’s going to be developmental and behavioral signs that stand out early on.
@@tqngy2590 Sanfilippo Syndrome can be Mistaken for Autism or ADHD due to Similar Behavior
It's like tay sachs
Rosemarie Plant How? Both are conditions caused by metabolic wastes building up that lead people to lose their skills and eventually die. The one this girl has just takes longer.
Chana Bayla Palliative care?
We get tested for tay sachs and many of us also choose to get tested for many of the other disorders since most of them hit us jews of ashkenazi decent. This gentile probably didn't get tested. There's a test for this I think.
I have a child with another syndrome ...TAR
Aww...I’m sorry to hear that! How are they doing?
dude, this is sad
❤
anybody else looking for the comments that actually talk about her eyebrows?
It’s a symptom of the condition.
@@annagitana1 yes I fully understand that but there seem to be alot of comment saying that there are people in the comment section who are talking about her eyebrows. I am looking for these people because as you said it's obvious that her eyebrows are like that because of her condition and I wonder why these people would even mention them.
What a cruel disease.
Ihave like her and IAM very tired .so hard
Everyone has heavy or light eyebrows what that has to do with her diease
It's a symptom of it
❤️💛❤️💛❤️💛❤️
Bogdon
the dad looks like he's on drugs lmao
I like her but it’s her eye brows
Doesn't make a lot of difference if you like her or not but her eyebrows are a symptom of the disease. Would you make a similar insensitive comment about someone with a birthmark or a missing limb?
I assume your eyebrows are perfect then
She’s a child
Omg you're disgusting! Shame on YOU
#SitDownQueen
Heldga off Hey Arnold
Shut up karen
Shut up karen
Another comment no one asked for
shut up
And helga was iconic. any questions?
when i see this the first thing i think of is vaccine damage
oh shut up
@@-._-._ i have a right to my opinion...and the many parents groups formed after their kids got autism etc after vaccination have a right to their opinion...why dont u ask them what devastating result THEIR kids got directly after vaccination! my friends baby DIED within HOURS of getting a vaccination!!
@@Lauren-vd4qe autism can’t be caused it’s a neurological disorder
@@thewildetyme1112 there are parents groups formed regarding this due to the emergence of autism vaccine damage in their kids DIRECTLY after the kid got their vaccines full of mercury, aluminum etc...perhaps you should ask THEM...
@@Lauren-vd4qe you do have a right to an opinion, however it is VERIFIED FACT that a inherited genetic disorder is not down to vaccines. So your option here is irrelevant, and having watched parents with children suffering from this disease and diseases somewhat similar, it upsets them when people claim this, because it is entirely false and just rubs salt into the wound.
In order for a child to have Sanfilippo syndrome they must inherit a faulty gene from each parent as it is a gene mutation carried on a recessive allele meaning it will only be “expressed” if both alleles inherited have this faulty gene. This mutation causes an inability to break down large sugar molecules, due to an issue with the enzyme that is responsible for this. VACCINATIONS CANNOT CAUSE HEREDITARY DISEASES.
I would advise you don’t comment things like this on videos that parents who have just found out/parents that have children with this disease may see as it is incredibly insensitive and downright incorrect. I am passionate about this subject as after watching mothers being so strong whilst their children are battling diseases like this online, I feel like they deserve as many people as possible to be educated on the subject.
This is one of the many reasons that I am going to med school, to possibles help join the fight against rare diseases and also to gain more knowledge to educate people that spread dangerous misinformation like this. By all means it’s you’re choice to not be vaccinated, however spreading dangerous misinformation is not okay :(
I would shave the heavy eyebrows off and keep them shaved off
The least of the parents concerns. Time better spent loving the child (did you hear the life expectancy?).
You should throw to the trash your brain 🧠 and buy a new one.
Jesus Christ, you disgust me. Fuck off, her parents have more pressing issues to work out.
Would you want to walk around with shaved eyebrows? That would actually look far weirder than her natural brows. In case you hadn't noticed there are lots of top models with eyebrows as heavy as this so she's not the freak that you are making her out to be. The days of pencil thin Twiggy eyebrows are long gone.
Why would you change something about your child.
she can't control how her eyebrows look she's a toddler.
Mevan & Jewel ikr she got more eyebrows than me. I need to step my game up
Mevan & Jewel I think they’re pretty darn cute💜
I have a child with another syndrome ...TAR
I have a child with another syndrome ...TAR