Our story began in July 2022 when Lucas, our first and only child, was born. Our joy quickly turned to shock when Lucas was admitted to the NICU after a code blue, where he was found to have a cleft palate and other medical complexities. We were by his side in the NICU for the next month learning how to care for a fragile newborn. He grew stronger everyday, and we were ecstatic when he finally came home.
“We were hopeful that the worst was behind us…”
Our hopes turned to worry and then fear as Lucas began missing all of his 3- and 6-month milestones. At 7-months old, Lucas was diagnosed with ZTTK, a severe neurodevelopmental disease, with intellectual disability, speech and motor delays, feeding difficulties, seizures, and other medical challenges. With only ~60 reported cases since its discovery in 2016, there are currently no known treatments or cures. Most ZTTK patients never achieve independence, and many are unable to walk or are totally non-verbal. ZTTK may also be life-limiting – today, the oldest reported patient is only 34.
“We were devasted.”
But Lucas’ resilience and strength continued to astound us. At 10 months old, after an 8-hour surgery (cleft palate, inguinal hernia, G-tube, ear tubes), we thought Lucas would need a few days to recover before he’d be ready to play with toys. The next day, Lucas surprised us with his energy and was reaching for his favorite books less than 24 hours after his surgery!
“While Lucas may be behind cognitively, he has always loved reading. We are so proud of our little bookworm!”
Since Lucas recovered from his surgery, our day-to-day life is still very challenging, but Lucas has taught us to look for joy everyday:
- Lucas still relies on a feeding tube to get his daily nutrition, but he is increasingly eating cheese puffs and yogurt – his favorite foods – by mouth!
- Lucas still has not crawled or walked at 18-months, but he recently stood for 20 minutes with braces and spotting only
- Lucas still has not spoken a word, but he is constantly babbling mamama and communicating his desires and emotions!
“Lucas has taught us that it’s possible to find joy and hope in even the hardest circumstances”
In September 2023, we met several ultrarare disease parents who taught us that it is possible to accelerate drug development for ZTTK. With their guidance, we are now leading efforts to find a cure for ZTTK so that Lucas and other ZTTK patients can have brighter futures.
Each day that Lucas does not have a treatment for ZTTK, Lucas is falling futher behind on his development and there is no time to lose.
“We are no different than any other parent that wants their childrens to achieve their full potential – our journey to helping Lucas reach his full potential just happens to include ultrarare disease drug development.”
“Your support will help enable Lucas and other ZTTK patients like Lucas to have brighter futures”
With gratitude and hope,
Ada, Nathan, Lucas (and Pup Luna, Lucas’ biggest cheerleader)
Read more about our story in the Boston Globe!
SOMERVILLE — At 19 months old, Lucas Guo has never crawled, walked, or stood by himself. He babbles but can’t say words. He struggles to chew and swallow. He gets most of his nutrition through a feeding tube attached to his belly.
Lucas has one of the world’s rarest diseases, ZTTK syndrome, a complex neurological disorder caused by a genetic mutation. Scientists have documented only about 60 cases worldwide and estimate that, at most, it afflicts several hundred people — far too few to encourage drug makers to find a treatment.
Listen to a podcast interview where Ada shares her journey as a mom, caregiver, patient advocate, t-shirt logo designer 🙂 … basically whatever lukie needs, she’s there!
Ada share her many duties of being a rare-disease mother, a wife, a patient advocate, a working mother and more.
“I am truly the lucky one to have Lukie as my son, bringing new meaning and energy to my day. Despite the challenges ahead, I am excited to start another new day in my favorite role: Lukie’s mama.”
