Meet Eleanor! She is the sweetest 1 year old who loves to play on the swings (she would probably stay on it for HOURS if her mother let her!) and eat Mac and Cheese. She just achieved one of her biggest accomplishments - climbing 2 steps all by herself!
Even though Eleanor has Chung Jansen Syndrome, a rare condition with about 40-50 reported cases worldwide, her cheerful spirit has never diminished and she is so determined to pass through any obstacle that comes her way! Read on to learn more about Eleanor's funny personality, her love for listening to Baby Shark on repeat, and more :)
1. To start off, can you tell me a little bit about Eleanor?
Eleanor is such a funny, sweet, and sassy gal, and she will be 2 on December 14th! Eleanor got diagnosed in July of 2020 with an ultra rare genetic disease called Chung Jansen Syndrome. This syndrome was discovered in 2018 and there are about 40-50 reported cases WORLD WIDE! With Chung Jansen Syndrome comes with a variety of symptoms that can range from mild to severe which include intellectual/ developmental disabilities, hypotonia, behavioral problems and she will be more at risk for seizures and onset obesity.
2. What are some of Eleanor's challenges with Chung Jansen Syndrome?
Eleanors biggest challenge right now is Hypotonia, also known as low muscle tone. She JUST started being able to pull herself up to stand and is insanely proud of herself! While many would see her as being extremely delayed with her gross motor skills due to her age- she has actually made HUGE strides these past six months that include crawling, weight bearing and pulling herself up to stand.
3. What is Eleanor's day to day life like?
Eleanor is currently going to a special needs school 3 days a week every other week and she receives PT, OT, speech, and feeding therapy while she is there. Her school has been absolutely fantastic at providing her with all the resources she needs to thrive. Before she was able to attend school, she received PT, OT and Feeding therapy through Nationwide Childrens Hospital. Her diagnosis has not changed her day to day life in a negative way - instead it has helped her get everything she needs to help her succeed.
4. What would surprise people the most about Eleanor?
Just how determined and smart she is! I feel like when you tell people you have a special needs kiddo- they almost pity you and I do not want that…ever. Eleanor is so bright and is destined to do big things despite her disability.
5. When someone meets Eleanor for the first time, what do you hope they think?
I hope they see the potential she has like I do.
6. What are some of Eleanor's hobbies? What is her personality like?
She loves to make us laugh and to be silly (she gets that from her big sister!). Her favorite things to eat (never thought I would say that!) are Macaroni & Cheese, Yogurt, Spaghettios, and crackers, and she can watch to Baby Shark, Elmo, Daniel Tiger, and Mickey/Minnie Mouse all day if she can! Her all time favorite pastime is to swing- she asks me to push her in her swing multiple times a day & she would probably stay in it for hours if I let her!
7. Has Eleanor's diagnosis affected your job?
I was working part time when Eleanor was younger, but once her delays started to become more apparent, I had to quit in order to take care of all her needs/appointments.
8. What is a recent accomplishment/ milestone of Eleanor?
Just today as I was cleaning our basement, she climbed 2 steps all by herself without me knowing!
9. Are there any resources which you recommend if anyone wants to learn more about Chung Jansen Syndrome?
Yes! My Youtube channel Empowering Eleanor talks about her diagnosis and everything that comes along with it.
10. Has the COVID-19 pandemic affected Eleanor's day to day life? If so, how?
It definitely did when COVID started and Eleanor was not able to attend school anymore. She was just getting comfortable with her teachers and her environment and I was so sad that she was not able to go in person anymore.
11. If you or Eleanor could tell the world one thing, what would it be?
See the ABLE not the LABEL :)