
I found out I was pregnant with Cillian December 9th, 2020. His dad and I were trying for about 4 months before I found out I was pregnant and we couldn’t have been more thrilled when we finally found out. Around 15 weeks of my pregnancy I was at work and felt something going down my leg I immediately ran to the bathroom and it was blood, I remember sitting there crying and calling his dad freaking out and rushing to the ER, when I got there they said I had a subchorionic hemorrhage to my placenta but my baby would be ok. Around about 20-24 weeks I got a call from my OB telling me she had some news about my baby but if she told me it would ruin the gender( we were doing a reveal) she said it is something to be concerned about but not too much. Once we found out he was a boy!! We also found out he has what is called Klinefelter's syndrome which means instead of like normal males that have an XY chromosome Cillian has an extra X chromosome so he has XXY chromosome. This will affect his muscular figure as well as body hair growth and testosterone issues, he may not be able to have children of his own but I have hope he will! This led to me needing ultrasounds every two weeks, in one of those ultrasounds the doctor discovered someone with his brain wasn’t quite right, we didn’t know what, I was so heart broken and just kept asking God why, why my baby why all these issues to something so innocent that isn’t even here yet why is he suffering so much. It was recently in 2022 when we had found out from genetics that he has TUBB3, we were so concerned. Many doctor appointments and many specialists every month it seemed like we were always at some hospital for tests but they finally found out what was wrong with my baby! He is 2 years old, he does not walk yet however he is trying really hard and I believe along with his physical therapists that he will walk soon, he does not speak full sentences however I understand what he wants because he will point or crawl to it, he is the smartest, most beautiful and confident little boy and God knew I needed him in my life. Cillian has many obstacles to face but with his family he will overcome every single one, and I encourage everyone who has anyone dealing with this mutation to embrace it, as we have with Cillian. He is a very special baby with very special people who love him.
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.
We would love to feature you next!