Living with Sanfilippo Syndrome: Reagan's Story

Reagan is a happy and energetic 2-year-old girl who loves to dance, play and have tea parties. She was recently diagnosed with a rare and fatal genetic disorder, Sanfilippo Syndrome.

Sanfilippo Syndrome results from defects in a lysosomal enzyme. Children with this disease are unable to appropriately break down sugar which causes carbohydrates to accumulate throughout the somatic and central nervous system. In other words, these children who appear normal at birth will later show severely delayed neurological development and become unable to talk, walk and even feed themselves. Children with Sanfilippo Syndrome oftentimes do not live past 20-years old.

Even though there is no cure or treatment for Sanfilippo Syndrome, there is hope. Some of the leading research on this fatal disease is taking place at Nationwide Children's Hospital, with the expectation of a possible gene therapy treatment going to human clinical trials soon.

[fatimafrione]

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 <3

[isabellahamm]

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!

[MiZztAtY]

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.

[beverleybev]

why is everyone talking about her eye brows. its the least of her worries.

[jeromecabral]

She's one brave little girl.praying for her

[oliviafaith]

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

[loveanddreambig]

Rest In Peace, little one.
You didn’t deserve the hand you were dealt. ❤️

[budgiebreder]

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.

[ninanastvogel]

wow. she’s so brave! I can’t imagine how it must feel like to be her parents. wish you all the best ❤️

[janetpunzalan]

Prayers for this beautiful baby girl and her family 🙏🙏🙏

[samanthamurray]

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!💛❤💛🫂

[KSMaxiefan]

Do people not realize that her eyebrows are a characteristic of her disorder?

[elenaivanova]

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.

[dianneherring]

sorry but I do not see a unibrow. all I see is a beautiful baby girl.

[maryvanoven]

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!

[montageofmemories]

I have two siblings with Sanfilippo a little brother who's 8 and a little sister who will be 13 in November.

[bingobongo]

this is very informative. i wish you and your family wellness.

[userlm]

Bc of her age, she qualifies for a stem cell transplant, ive resd about 2 kids who had and the progression slowed down significantly

[LovinLife-pvop]

Is there an update for this beautiful little girl?

[katekurtz]

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!