Talia is a joyous, loving, and social baby. And she has TUBB3. She was born at 36 weeks gestation last year (2025) due to my pregnancy complications (severe Hyperemesis Gravidarum and Intrahepatic Cholestasis of Pregnancy) which collectively made a 36 week induction necessary due to fetal and maternal health risks if we went past 36+0. She was born experiencing respiratory distress and almost immediately placed in an incubator and rushed to the NICU for oxygen, blood sugar, warmth, and bilirubin support. We spent 12 days in the NICU at an amazing hospital with nurses like angels on earth. She had two perfect days of oral feeds and we were discharged to finally be home with our precious baby girl. Within a couple of weeks I was begging her pediatrician for referrals to specialists because she was losing weight drastically and refusing to eat again. It took until she was 2 months old and I'd fired her first pediatrician before we ended up admitted to the local Children's hospital for Failure to Thrive. She was below the 5th percentile and dropping rapidly. I remembered how much her feeding tube had helped in the NICU and I advocated hard, begging them to drop a new Nasogastric feeding tube for her. They agreed, and she instantly started improving and putting on weight. Months later, we were still making no headway with feeding skills or desire, despite an amazing feeding therapist, and we got the Gastrostomy tube placed in her stomach to prevent her from yanking out her feeding tube constantly like she was doing with the Nasogastric one. At about the 6 month appointment, we referred to Physical and Occupation Therapies, in addition to the Speech/Feeding we were already doing, as her pediatrician confirmed she was falling behind on her developmental milestones. No one could give me answers as to WHAT was causing this, just that it was happening and we needed to "treat the symptoms" even though we had no idea about the cause. I went out on my own and sought out pediatric genetic testing to be done for her. I just KNEW there was something wrong and no amount of doctors telling me there was no cause or we didn't need to know the cause could change that. 5+ inpatient stays weren't getting her answers, so I found a geneticist. At our second appointment with the geneticist, she handed us some papers and explained that Talia had a rare gene mutation called TUBB3, but that no one knew much about it, and her variant was of unknown significance, so we still needed to continue just treating symptoms. Seemingly as an after thought, she told us that Talia had inherited this gene mutation from me, that I also had it, and had a 50-50 chance of passing it down to any future children I might have. At first, I was upset - I had wanted a solid sure thing answer that this is what was causing her problems and we could fix it, or at least stop looking for other answers. I certainly had not gotten that. What I didn't know then was that this diagnosis would lead me to a wonderful, caring, supportive group of like minded families and individuals who had the same diagnosis - although with different variants of TUBB3 respectively. I learned that Talia (and by extension, I) was not alone in this fight. Less than 500 known cases of TUBB3 are out there, and yes, information on the condition and it's symptoms is sparing. But the support found in an organization like the TUBB3 Foundation is incomparable. This TUBB3 awareness day, I know we may never get all the answers, or at least not anytime soon, but we can educate ourselves and get out there and help other families get the testing they need to be diagnosed if they also have it. I doubt we would have a diagnosis today if I had not fought tooth and nail and demanded referrals to more specialists, and ultimately, the geneticist. Talia turns a year old in 2 weeks from the time of my writing this. She is learning to crawl (although her posture is not perfect), after her GJ revision to make her feeding tube extend into her small intestine, she is starting to eat orally with consistency, and she has started to babble. She still has no shortage of challenges, but there is hope. Hope for answers, hope for community, hope for support. And there is so much joy and happiness with this little girl in my life. She lights up a room and makes friends with every nurse she sees. And she sure does see a lot of them.
Do you have a family member diagnosed with a TUBB3 variant? You can help spread awareness and bring understanding to others by sharing your story.
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