Meet Lucas! He has such a fun personality, and he loves spending time with his family and watching the television show The Golden Girls with his grandmother. He is such a fighter and has defied many odds since the day he was born! Learn more about Lucas' determined nature in the interview conducted with his mother down below!
1. To start off, can you tell me a little bit about Lucas?
Lucas is two and a half years old, and he was born with a rare genetic condition with no medical cure called Nonketotic hyperglycinemia, or NKH, which results in an accumulation of glycine in the body's tissues and fluids. This condition is so rare that it's considered an "orphan disease,” (approximately 500 for NKH), and there is little to no funding for research to cure it. NKH causes many challenges with development such as seizures, autism, and cerebral palsy,
2. What are some of Lucas's challenges?
I would say upper body strength and head control is his biggest struggle currently. Lucas is also diagnosed with CVI, which means his brain does not communicate with his eyes. One year ago he was diagnosed legally blind, and he currently receives therapy from the Foundation for the Blind. Instead of milestones, we call them inch stones and some days millimeter but we keep working consistently!
3. What is Lucas's day to day life like?
Lucas's life pretty much revolves around therapy and doctor appointments. His great grandmother is trained in several of Lucas's needs and provides them even on the weekends. There are six caregivers that work around the clock for Lucas, which he has done ever since he was in the NICU and he is constantly supervised by me and other family members every single day.
4. What would surprise people the most about Lucas?
He loves music! It always puts him in a better mood, and he loves to dance along. He especially loves watching the television show The Golden Girls, which he watches with his grandmother everyday!
5. When someone meets Lucas for the first time, what do you hope they think?
Most people believe he is super special and that he will be healed. Strangers who have never met him will constantly send messages to him every day about dreams they had or prayers for him, so I have no doubt that his story will help others on their own journeys.
6. What are some of Lucas's likings/hobbies? What is his personality like?
Lucas definitely has a funny personality! He is calm most of the time but he can throw a fit if warranted.
7. What is the most important thing for someone to understand about Lucas?
We are 100% committed to do whatever it takes for Lucas to be healed. We work nonstop with researchers, fundraising, and exploring alternative healing options. We mostly rely on prayer and we ask the Lord to lead and guide us each day.
8. Has Lucas's diagnosis affected your job?
Yes, it has affected all of us. I have turned my business and running of the company over to others. I only oversee big decisions, and I quit working the first year completely. Everyone has altered their life and schedules for Lucas.
9. What is a recent accomplishment/ milestone of Lucas?
He has recently starting to make crawling motions on the floor.
10. Are there any resources which you recommend if anyone wants to learn more about Lucas's condition(s)? SavingLucas.com has in depth information about Lucas' condition and ways anyone can help with his journey.
11. Has the COVID-19 pandemic affected Lucas's day to day life?
Well, in some ways yes and many ways no. Before the pandemic, we already lived a pretty socially distanced life due to Lucas's needs, What changed the most is that everyone is home now for an extended period and all of his doctor and therapy appointments for the most part were moved to Zoom. Having a neurological appointment on Zoom is not quite the same when the doctor cannot examine the child, and physical therapy online definitely does not have the same benefit. However, we are still incredibly grateful for the technology to at least keep moving with Lucas' appointments even if it is slower than it would be in person.
12. If you or Lucas could tell the world one thing, what would it be? Trust God. They said he would never leave the NICU. They were wrong. We knew he would and he has been defying them since. God has a bigger plan for Lucas.
Meet Tad! This little guy just turned 3 on November 5th (happy late birthday!)! He loves getting in trouble and being mischievous! Tad's family and friends have given him so much support after he received his CHARGE syndrome diagnosis, and he is so determined to enjoy life to the fullest! Read the interview below with Tad's mother to learn all about Tad's journey and his superpower to spread joy wherever he goes :)
1. To start off, can you tell me a little bit about Tad?
Tad recently turned 3 on November 5th...I'm so excited and sad that my baby is growing up! Tad has a genetic defect called CHARGE syndrome, and each letter stands for a defect that is common to those effected by it. He also has a few heart defects, with his main defect being HLHS (hypoplastic left heart syndrome) where his heart never fully formed. He also uses a trach, a g-tube, and a pacemaker.
2. Can you tell me a little more about Charge Syndrome?
Tad’s main challenges, now that his cardiac status is more stable, is that his vestibular system (which provides a sense of balance) is very affected. He is missing many pieces in his ears which affects his balance and he is struggling to accomplish milestones for his age. However, he is amazing and is learning each day how to push past any obstacles that comes in his way!
3. What is Tad's day to day life like?
Even before the COVID-19 pandemic, Tad has always lived a very sheltered life. His immune system can not handle even the most simple interactions most babies can have. In order to keep him safe, we have limited all interactions with others outside our house. As Tad gets older, he gets stronger but we take many precautions to keep him safe as even a common cold can wipe him out. Tad has a very busy schedule with appointments and therapies, but he personally thinks all his therapists and doctors are his best friends and usually doesn’t mind his busy schedule.
4. What would surprise people the most about Tad?
I think the biggest surprise with Tad is reading his medical chart and then seeing him in person. He truly is incredible, and like lots of other children with complex medical history they defy the odds and have such a joy for life!
5. When someone meets Tad for the first time, what do you hope they think?
When someone meets Tad for the first time, especially if they are not in the medical community, seeing some of his differences like his trach and gtube can look different; however, I hope they can see past that and see him for the wonderful, happy little guy he is.
6. What does Tad like to do for fun?
Tad like most toddlers and boys loves making messes and getting into trouble. We have two little dogs and he thinks it’s hilarious to crawl and chase them around all day. And he loves to make mom and dad laugh!
7. What is the most important thing for someone to understand about Tad's condition?
Something I wish people knew more about is how common congenital heart diseases are. It's the most common birth defect and the highest cause of infant deaths, but it is not talked about enough in our community. And in regards to CHARGE syndrome, if you ever have the pleasure of meeting a charger, I hope you get to experience their drive and determination. We could all learn a few things from them!
8. Has Tad's diagnosis affected your job?
Thankfully I have an INCREDIBLE family, I mean incredible. I had just started college when I found out I was pregnant, and when we got Tad's CHD diagnosis in utero, my aunt allowed us to stay with her to be close to one of the best heart surgeons who gave Tad a chance at life. And I have been even more fortunate to be a stay at home mom for Tad to focus on him and everything he needs.
9. Are there any resources which you recommend if anyone wants to learn more about Tad's condition(s)?
Sisters by Heart is a wonderful organization bringing awareness to Hypoplastic Heart Syndrome (a heart defect) and the CHARGE Foundation provides resources for families effected by CHARGE.
10. Has the COVID-19 pandemic affected Tad's day to day life? If so, how?
We have lived in this lockdown type environment since Tad was born, so it hasn’t really affected much of Tad’s schedule besides some cancelled appointments and therapies. It has been weird to see everyone live the type of life we have simply just adapted to for Tad’s well-being, and I know so many medical parents who would agree.
11. If you or Tad could tell the world one thing, what would it be?
Don't judge a person by their abilities or disabilities. Honestly, I wish Tad could give a lesson on joy to everyone that comes his way because the amount of joy his little body contains is amazing and everyone could benefit from that!
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 :)