Living with Sanfilippo Syndrome: Reagan's Story 

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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.

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.

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!

@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

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”?

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

Did she pass away?

Thanks for watching and sharing, Destiny!

She passed in July 2021. 💔

Most kids with this disease all look alike... they have thick coarse eyebrows, etc. I dont think they know why they look alike though .

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

Not quite all of them I've seen some that had no defining features that most do.

Hope, wish, dream ...

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 ..

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!!!

Aww...I’m sorry to hear that! How are they doing?

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💜

They have a Facebook page called Regan's Hope.

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.

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 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 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.

It's a symptom of it

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

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.

Shut up karen

Shut up karen

Another comment no one asked for

shut up

And helga was iconic. any questions?

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 :(