Meet Addi
Addi is a vibrant and determined 3-year-old with the sweetest smile and a spirit that shines. She was diagnosed with TBCK Syndrome, a rare neurogenetic disorder, but she refuses to let it define her. Despite challenges like hypotonia, epilepsy, and developmental delays, Addi continues to amaze everyone with her progress—crawling, sitting, eating, and playing with pure joy. She is a fighter, a light in her family's life, and a reminder that hope is always worth holding onto.
Meet DRAE
Meet Drae
Drae is the most amazing loving 2 year old little boy I could have ever dreamt off. He was diagnosed with TBCK syndrome at 17 weeks and although He goes through so much on a daily basis he never fails to smile. Drae works hard on his head control and I know one day he will get there as his determination is incredible. Drae loves music, lights, bubbles and kisses. His sisters are his world and he is ours
Meet Alyson
Alyson, is a 8 year old girl full of happiness, she is strong and definitely a warrior, diagnosed with tbck in 2018 at 2 years old. Aly as we all call her, can enchant you with her lovely laugh and smiles, She knows the word "No" . Loves to roll all over the place and learning to stay sitting without support.
Meet Sofia
Sofia wakes up every day with a smile, she is the light that brightens our days, she loves to play with buttons, music and lights, she really enjoys being surrounded by her family and listening to her grandfather's stories. Every day she works hard at her school (homebound) and her speech and occupational therapies, she is also starting with her eye gaze device. She surprises us every day with what she is capable of doing!
Meet Noham
Early on, we faced a heartbreaking choice—pursue an aggressive treatment for infantile spasms that could take his vision or let the seizures continue. With no cortical visual impairment diagnosis yet, we took the risk, hoping to stop the seizures before they worsened. It didn’t work. His seizures evolved, turning more severe. He would turn blue, his body unable to regulate breathing. Status epilepticus became a daily battle, and rescue meds—costing $200 per dose—were a constant necessity. Weeks went by where we needed at least four. Today, Noham is more stable, but his seizures will never fully stop. We refuse to overmedicate him. Instead, we rely on something just as powerful—his unbreakable bond with Dad, who can sense a seizure before it even begins. Even in sleep, he knows. That connection is everything.
-Frances Noham's mom
Meet Violet
Violet was born in September 2022, our third child and a beautiful light in our lives. At first, everything seemed fine, but as time passed, she missed milestones. Genetic testing gave no answers, and she faced growing health challenges—feeding difficulties, respiratory struggles, and frequent hospital stays.
By four months, she lost the ability to eat and needed a feeding tube. In May 2023, worsening symptoms led us to take her to the hospital, where a severe apnea episode stopped her breathing. She was rushed to intensive care, and within days, we finally had a diagnosis—TBCK syndrome. She was the only child in Wales with this condition, one of just 150 worldwide.
With no treatment options, we spent 70 days in the ICU before moving her to a children’s hospice, where we had 16 precious days together. On August 24th, she passed away in my arms at just 11 months old.
We miss her beyond words, but we share her story to bring awareness and hope. I joined the TBCK Foundation’s Board of Directors to fight for better support and research. One day, no family will have to go through this. One day, there will be a cure.
-Emily Violet's Mom
Meet Mj & Josiah
MJ and Josiah are two brothers about a year and half apart that love music, socializing with those around them, and watching cartoons! Although they both fight this battle against TBCK, they have shown us what resilience looks like. In their lifetime so far, they've battled things many of us will never have to fight. Both boys were diagnosed at about ten months, we had no idea we were carriers until our sweet josiah was born but that's okay! They have been the best teachers and we wouldn't have it any other way. They have shown us what true joy is and despite their struggles, they continue to love life and love those around them. We are very lucky to see life through a lense that shows empathy, compassion, and joy because of our boys MJ and Josiah!
Meet Arianne
Arianne was diagnosed at 2 yrs old, the last couple years is been full of changes and challenges for her, but she stays a happy girl who enjoys music, colorful lights and loves to laugh with both of her grandmas. Her favorite part of the day is bath time, she loves being in the water.
Meet emmett
Meet Emmett, a 7-year-old boy diagnosed with TBCK syndrome.
He is an affectionate, friendly, and incredibly happy child who fills our hearts with joy. His smile brings us hope and reminds us of the beauty in every moment.
Despite living with a rare neurological disorder, epilepsy, hypotonia, developmental delays, and requiring a ventilator, Emmett continues to grow and learn every day. He is learning to communicate using a tablet, responds when spoken to, laughs, and recognizes his family and those around him.
One of Emmett’s favorite things is music—he loves playing his tambourine and enjoys every beat.
Through every challenge, Emmett proves that nothing is impossible. He is a warrior, a hero, and a light to his family, reminding us all that limits only exist if we let them. Emmett shows us that with love, perseverance, and faith, anything is possible.
Meet Dallas
Dallas is the sweetest love bug hailing from Florida’s space coast. He has been diagnosed with TBCK Syndrome, since 2018. He is the bravest, strongest, 8 year old we’ve ever met. Our real life super hero. Dallas’ most difficult struggles include daily battles with epilepsy and chronic lung failures. He has had a tough year but is the most resilient child. He has not stopped fighting and continually exceeds doctor’s expectations. Dallas loves to get up in his gait trainer and stander, play ALL day with his house of toys, attend his therapies, flirt with his many girlfriend’s and communicate using his sign language and iPad. He is a true warrior, always wears a smile and is the purpose of his mom and dad’s life. I always say, “It’s Dallas’ world and we just live in it.” He knows that all too well and loves to take full advantage. He shows us incredible love, strength, courage, and kindness everyday.
Meet remi
Remi was diagnosed with TBCK 3 years ago. The things she has been through and continues to go through could easily destroy someone, but Remi continues to smile everyday. She has the most contagious, sweet laugh that tells me Mama I'm happy, even when I feel like nothing is ok. Remi reminds me to appreciate the little things and not despair with what this syndrome takes away. I'm so thankful for the TBCK community who has helped so much along the way.
Meet annie
Annie is a wonderful little 3 year old. She’s the happiest little soul despite the challenges she faces (hypotonia, epilepsy, osteoporosis- 5 fractures so far), and global developmental delay. She loves ice cream, yoghurt and chocolate (and food in general) and loves watching ms Rachel and playing with her new ms Rachel toy! She’s determined to climb onto furniture, and stand up to get to her toys. She works very hard every day in therapies which we do at home daily and with professionals every two weeks. She’s the best little girl with a big personality and attitude. She knows what she does and doesn’t want or like.
Meet eddalys
Eddalys is a 21 years old young lady and the princess of the family. She is so strong and brave girl and such and Inspiration for the family because she never gives up and she always has a smile on her face. She was diagnosed with TBCK wish has affected her with global developmental delay, but not the ability to bring joy and happiness to the family.
Meet geovanni
Geovanni was my firstborn and his father’s fourth son. My pregnancy was smooth, with no complications, and all tests came back normal. But during delivery, Geo was too weak to help himself out, and when he was born, he needed oxygen immediately. Despite this, we were sent home just two days later, believing everything was fine.
Soon, my mother noticed that every time Geo drank milk, he would sweat and vomit. For months, we were in and out of the hospital with no answers—until one doctor finally told us that without a trach and GJ tube, Geo wouldn’t survive. On December 12, 2001, we made the difficult decision to proceed with the surgery.
For years, Geo thrived, though he remained undiagnosed until 2015, when he became the first case of TBCK syndrome at CHOP (Children’s Hospital of Philadelphia). Our lives revolved around making sure he was comfortable and cared for. His two younger sisters grew up helping with his needs, and nothing came before ensuring Geo was okay.
Geo lived 22 incredible years. His father gave him the best trip to Florida, where, on July 10, 2024, he gained his wings. He was deeply loved, and his memory will always be cherished.
Meet nellianna
Nellianna is our 1 year old warrior! She was diagnosed with TBCK in November 2024. Despite her challenges with hypotonia,epilepsy and developmental delays she still finds joy in her daily activities! Nellianna strives daily to prove she’s more than her diagnosis and determined to show progress. Our sweet girl is the happiest, lovable, kind and caring baby! Nellianna warms everyone’s heart and continues to show everyone she’s more than her diagnosis.
Meet donuel
Donuel is 20 years old. He has always been the bravest and strongest boy I have ever known. He was diagnosed with TBCK but this Warrior without saying words he has told us and taught us too much. Throughout these 20 years (almost 21), he has done a lot, all kinds of therapies, he managed to roll on the floor, sit up, he even said Dada, eat and drink by mouth, but things happen like seizures, surgeries, broken bones, respiratory problems, etc., and maybe he will never be able to do all this again, but his spirit, his strength and his smile are not broken. Every morning he wakes up with a smile and that means the world to me and our family. He is our favorite person in this world!!
Meet levi
Let me tell you about Levi, a delightful toddler who’s full of energy and love. When Levi was just a year old, he was diagnosed with TBCK, which was a tough time for everyone involved. He’s an incredible little boy who continues to amaze and inspire his family every day. Levi loves to sit, army crawl, and eat (especially his favorite food), but he’s more interested in playing with water bottles and remotes than his toys. Despite the challenges, of epilepsy , developmental delays and hypotonia— Levi is strong and determined. With faith and hope, we believe that anything is possible, thanks to God.
Meet susie
Susie is a joyful 13-month-old from Arlington, VA, who fills every day with laughter and love. She adores bouncing in her pink chair or dancing with Mommy and Daddy to music. Bath time is another favorite—she loves splashing and making waves!
Right now, Susie is in the teething stage, so anything she can safely chew on is her favorite toy. She also enjoys musical toys that keep her entertained.
Her joyful smile and silly giggles are the highlight of our days, and her excited wiggles and kicks never fail to make us smile. Diagnosed with TBCK syndrome at just five months old, Susie continues to amaze us with every small movement. She reminds us never to count these children out—each milestone is a blessing and a reason to celebrate.
Meet harper, haisley & hope
Meet the Shearer Sisters—Harper, Haisley, and Hope. These sweet girls share a love for baths and good food. While they’re all TBCK warriors with the same variant, they each shine in their own special way. Harper lights up when she’s at school, Haisley is full of personality and keeps everyone smiling, and Hope’s pure joy when she masters new skills is absolutely contagious. Together, they remind us how beautifully unique every warriors journey can be.
Meet janlean
Janlean has TBCK syndrome Chronic kidney disease stage 1, seizures, gastrostomy and depends on a mechanical ventilator that helps her breathe better! She turns 24 this month and was diagnosed with this rare disease in 2020.
There is no better word to describe her “Warrior” she has been our life teacher. We learned to value every second with her and enjoy without thinking about tomorrow. There have been many hospitalizations and serious conditions in which fear was inevitable but she was always strong as an oak. Janlean’s smile is our greatest gift and the one that gives us strength to continue fighting alongside her. We love you Janlean
Meet melismar
Meet Melismar, a vibrant 17-year-old from Puerto Rico, lovingly known as Mely.
Diagnosed with TBCK syndrome in 2019, Mely has faced many health challenges, but with strength and faith, she continues to overcome them. She is truly a warrior.
Mely has a deep love for music, Christian cartoons, and princess movies—a true princess at heart! She takes regular and physical education classes at home, though she’s been known to pretend to be asleep to sneak out of studying.
Above all, Mely is the heart of her family. If we had to describe her in one word, it would be "Strong."
Meet sara
Sara is 6 years old and was diagnosed with TBCK in 2020. She loves music and food, and she especially enjoys watching Atención Atención, as well as the movies Encanto, Coco, and Moana. One of her favorite activities is aquatic therapy during pool time.
Make it stand out.
-
Dream it.
It all begins with an idea. Maybe you want to launch a business. Maybe you want to turn a hobby into something more. Or maybe you have a creative project to share with the world. Whatever it is, the way you tell your story online can make all the difference.
-
Build it.
It all begins with an idea. Maybe you want to launch a business. Maybe you want to turn a hobby into something more. Or maybe you have a creative project to share with the world. Whatever it is, the way you tell your story online can make all the difference.
-
Grow it.
It all begins with an idea. Maybe you want to launch a business. Maybe you want to turn a hobby into something more. Or maybe you have a creative project to share with the world. Whatever it is, the way you tell your story online can make all the difference.
