4-Year-Old Living With One of the Rarest Disorders in the World 

She couldn't ask for more loving parents than what she has.

I know your mom Amanda and I just wanted to send you a big wide hug. I’ve shared this with my friends and will share wherever I can. Emma is so gosh darn sweet and always so happy and I’ve been watching her grow up having that bright contagious smile and intense determination! 💗🥰💖

The fact that kids who have this rare genetic disorder get misdiagnosed with having cerebral palsy, which is the condition that I have is problematic for me. Cerebral palsy isn’t degenerative, doctors who misdiagnose kids with cerebral palsy when they actually have a neurodegenerative disorder need to understand that before they even consider diagnosing kids with cerebral palsy at all.

That's a hard life. So happy to see mommy doing everything possible to maximize her quality of life though! 💙💙💙

Before I even realised how extreme her condition was, all I saw was a little girl so happy and similar to my little sister Emma at that age. She is amazing and strong and will do amazing in life. Sending my love and prayers

This is heartbreaking...I hope Emma gets stronger every day and can overcome this and anything in her path.

So much Respect for her and her amazing Family!

This is truly unfair that a little one has to go thru this

The unwavering dedication of Emma's parents makes my heart surge ❤️! God Bless them and the patient therapists! 🙏

That's so sad to hear

Such a brave young woman and mother. Parents. An inspiration and she's a happy child. So important for her to be happy 😊

Smiling so bright in the thumbnail, I couldn't even tell this baby was wheelchair bound ❤ bless her heart

I hope this a little girl gave bigger and strong

She’s a blessing indeed.

Her strength is unmatched. We’re all rooting for you and Emma 💪🏼🤞🏼❤️❤️❤️

I am so sorry for the little girl.

I feel bad that Emma won’t have a normal life, my little brother also is non verbal and he’s severely autistic but he’s not as bad as people think. I’m also autistic but as my mom says more “high functioning” and still able to live a normal life. Stay strong Emma!

God bless this tiny angel.

Best wishes for the family! 🎉 Emma is loved.❤

That's insane. Hard to hear that. Hope she gets better

One of the best things is a parent who is a strong advocate for their child. I love this story, love how Emma's mom is so passionate about her diagnosis, even teaching others about it. Lots of love, prayers, and support for Emma and her family.❤🙏🫶

This kid has got me beat. Only five people in the world have the same mutation that I have. STAT3 GOF is my nemesis.

I’m also from Calgary Alberta and can confirm as someone with a lung condition (pulmonary hypertension) that the care here is so good. Emma will continue to be in the best hands and she is an inspiration ❤ Keep fighting beautiful girl!

This little angel has all my prayers

Amanda, you’re doing a fantastic job! Aside from her diagnosis of K.A.N.D., she’s a healthy baby. That’s a huge help. I’ll say prayers she stays healthy. Emma, you’re such a sweetie and a cutie! Will you please post more videos? Thanks.

Praying for this family

I wonder if CRISPR would help with this since it's a genetic thing. It's helped cure other genetic problems.

She’s a blessing

Thank You for sharing your story. So much admiration, love and blessings for your beautiful family. I pray for a cure ❤️🙏🏽❤️🙏🏽❤️

God bless her

I am so sorry ❤

SMA first guess 1:00 oh. Dang. It's like my neuroscience class - literally one case (/type) on a worksheet outlined just like this - milestones, then not meeting them, mobility, dystonia, It's...

Praying for you little girl

Stay strong Emma ! Greetings from Texas !!

My 5 yr old grandson has this same rare condition. Gd bless you! Stay strong!!

I have autism as well I have Asperger the rate is 1,000 out of 2 kids have the it and god bless her ❤ and I am 15 years old boy

poor thing

Sbsk is amazing. They want her story and they're people who want to help.

Poor baby 😢I pray for her 🙏

I thought this would be another FOP (Fybrodisplasia Ossificans Progressiva) story. That disease gradually turns all muscle tissue into bone. Like KAND, FOP is also quite rare. Still, having any progressively degenerative disease is a nightmare that I wouldn’t wish on my worst enemy. Stay strong little Emma. May the Force be with you, always.

Pray for her

What a lovely family! Wish all the best for them.

I hope she gets better!

What a little angel ❤

Love this ❤❤

My heart aches for mom. She’s a strong one though. Thank goodness they had the financial resources to uproot to a better place for their girl. Only well wishes for them.

Poor sweet child.

Sweet little girl ❤ She has amazing parents ❤

Stay strong kid♥️♥️🐇

I love how patient Emma's mom is. God definitely assigned her parents the right angel 😇. 🙏🏾 ❤️

A beautiful little angel 😇 ✨️ 💛may god bless her 🙏 ❤️

You're not alone.

I hope she gets better

Poor baby, so sad 😢❤

It's a good thing this girl was born into a resourseful family.

God bless your baby ❤

Pray for the little girl🙏🏻

My child was the 252nd documented person in the world diagnosed with their disability in 2018. They have hundreds of seizures a day if not medicated. I completely understand that not everyone understands a very complicated, medically fragile child like this. Sometimes, even primary care doctors don't know anything about these rare children. It is extremely hard to find people who understand the complexity.

I was 9 months old and not sitting up and rolling over yet. I was deemed a failure to thrive. This happened because i suffered severe neglect at the hands of my biological mother. Ive struggled my entire life. She neglected me so bad my height was drastically impacted. I shouldve been 6 ft 3 like my biological dad and brother. Im only 5 ft 7. I was also super thin my entire teenage and childhood years. Im heavier now. I started school a year late because my preschool teachers told my adoptive mom i wasnt ready yet. When i finally did go to school i suffered severe bullying and the teachers were unfair to me. I now suffer ptsd and severe depression. Ive wanted to give up and end my life so many times. Ive just wanted the pain to end. But for some reason i havent yet. I keep fighting.

Hope she could get well someday

🙏🏻

An Undeniable, Tiny, Canadian Princess! We support Emma and her Family 1000% The True North Strong and Free! 🦄💝🇨🇦

good mother

Why is everyone being so childish in the comments, I hope this babygirl grows up to be as healthy as she can be.🙏

This Mother is awesome, education is vital to these diseases that we kno nothing about....

god please make sure parents and the kid stay happy and healthy ❤

She looks so happy! And this mum is so strong and kick ass. Emma is lucky to have her, and vice versa. 🩵

I hope she’s ok

your so strong

This is so sad to see

I wonder if KIF1A is also affected by autism because a lot of people with autism including myself had difficulties with fine motor skills as a kid.

Wow! This mom is amazing being a Nurse to understand and educated to help her daughter. Then to educate people about her daughter's rare disease. Prayers going up for her daughter and mother also family to keep them strong dealing with their journey each day. In Jesus mighty name I pray. Amen 🙏 🙌

😢

god bless her

God bless you

IT'S SAD AND HEART-BREAKING TO KNOW THAT SHE'LL NEVER EVER COME CLOSE TO BE FULLY HEALED...😮‍💨

😢thats a strong angle there

🌹God Bless you Beautiful Mom and Beautiful Angel Daughter Emma🙏✨✝️✨🕊️✨🙏

OMG!! That Davros chair is too cute!! She will be a villain!!

I had problems when I was a baby too

And speaking to multiple people I can’t do that so like you know how many people can have 20 or 30 friends over or they go over to their house well, I can only have one friend at a time because if one person says something, I am fine to degree, but if I have to listen to another person as well then good luck with that, My brain can’t handle that at all

I pray to God to help her parents in every way possible ❤️

I feel sorry for the mom & child

I heard of KIF1A on PBS. The ataxia part is interesting.

How has she been doing?❤

Ain't no disorder gonna keep this girl down , trust me she gonna beat it!

She is so beautifull😢

The kid can’t walk, talk, interact, or see? Maybe the fight ain’t worth fighting. No offense

May God bless this little angel🙏🙏

God bless this tiny angel 👼🙏

I know it’s sad to hear this but at the same time she doesn’t know any different right so if anybody sees her in public and they start to cry and that she will wonder why they were so upset you know because she doesn’t know any different she was basically born that way you know I have a rare chromosome disorder as well as autism, and you know I didn’t reach the same milestones as the average person does on a daily basis you know because I have two disorders, and it causes me lots of behavioural problems and lots of anxiety issues I also exhibit signs or symptoms of a person with OCD as well I believe I also have psychotic tendencies as well so there’s quite a few things that I have that really resemble person you know you probably shouldn’t be allowed out in the public on their own you know

🙏🏿🙏🏿🙏🏿

🙏🏾🙏🏾

So yeah, if anybody saw me in that State of mind where I became vengeful and you know something set me off and I became vengeful and people saw me become enraged in like seconds you know trust me it would probably be thinking the same way as I would be And that’s why I don’t go out in public on my own because I don’t trust myself. I don’t trust myself in the public on my own right now you know what I am trying to work on that because I do want my independence in the public to some degree you know, and I don’t always want to rely on my dad, mom, or anyone in my family not even my grandparents to take me out everywhere you know sometimes I feel really guilty about that because sometimes they need a break to to do stuff around the house Sometimes I need to get stuff done around the house and they can’t just go out all the time so if I had friends you don’t like a few friends that I can go out shopping with and go out and enjoy my time with you know then it would leave time for my family to catch up on whatever they need to catch up on work and would give them time you know

God bless

There is a genetic disorder HUWE1 with only 500 diagnose. There is not known information and affects each person differently

Emma is a strong type. Keep up the faith.

I will pray for your Beautiful little Princess and your family!❤

You rock Emma 😊

Awe Emma she's so Adorable!!!! after watching this check out SBSK special books by special kids Chris Interviews for Rarest Disorders and special needs as well. Thank you for sharing 🥰🥰🥰🥰💖💖💖💖💖💖💖