We are the Garcia Family, Gizelle and Genelle Garcia are our daughters that have been diagnosed with TBCK. Our second daughter Genelle is the reason we were able to be diagnosed. Gizelle passed away at the young age of 8 with a unknown diagnosis at the time. We as parents we told it was a zero percent chance of occurring again. Genelle was born 3 years after her sisters passing and was diagnosed at the age of 6 months. The diagnosis came from re-running Gizelles DNA sequence once we came back to Texas Children’s Hospital with our second daughter. They quickly found out our rare diagnosis of TBCK and informed us we were both carriers for this genetic disorder. 

     Our most challenging thing to this date was to loosing our daughter Gizelle. She passed away at the young age of  8 with this unknown diagnosis. We did everything we were presented with to possibly diagnose her and we were always left in the same boat we had initially started with. We never gave up we treated the symptoms as best as possible, while living through the unknown. The looming darkness of living with a unknown diagnosis knowing your child has something wrong is not for the weak. We fought hard for our Gizelle to ultimately never figure anything out. When you loose a child is extremely difficult but to loose a child that you know had something wrong is beyond words can ever explain. We were left broken hearted to loose our only child to a unknown diagnosis.

      Our encouraging moment came when our second daughter was born. Genelle was born 3 years after Gizelle passed away. I was always very fearful of the what if this happened again. Once we had our beautiful baby girl is was evident that we obviously were the root cause of our daughters genetic issues. Once we saw our genetic Neurologist at Texas Children’s hospital they were quick to make a diagnosis. To receive a diagnosis with what is wrong with your child you would think it would be relieving somewhat. You can find out things and ultimately be able to give them something to help with their issues. Not with our diagnosis, TBCK being so newly discovered no one in our network of hospitals knew anything. So to say I embraced the diagnosis, I dug the deepest rabbit hole you could ever think of, that is what any parent with a rare kid would do right? I read as many published papers as I could, any testing I could find associated with the TBCK name and networked with what people I could find linked with the TBCK disorder. I then went back to educate the doctors on our team. Talk about feeling empowered! To teach these doctors that have devoted their life to medicine and know a lot of everything but did not know about my child was a true testimony. I felt like I was just missing the M.D after my name after all the googling and learning I did. The TBCK diagnosis woke up a fire in me that continues to burn inside me! Being a advocate for my child and all the other warriors is what I truly embrace as a parent of a TBCK warrior! 

        I guess you can also say that is TBCK disorder is what continues to motivate me everyday. My daughters are a huge part of my motivation to keep going. If the parents just sit back and wait on doctors we would never be where we are with research. I feel the power of the parents of the TBCK warriors is the reason the researchers continue striving to find a cure for the TBCK disorder. The most successful part of this journey, I as a parent,  would say is meeting other families that share the same life as you. Even though there is no diagnosis as of yet, having families get together every year and have the TBCK foundation as a platform is a huge bonus to any obstacles we are battling, both small and big. 

       My advice to the parents of any rare child, is to embrace life. Enjoy the small more meaningful milestones your child achieves. All parents know the milestones any child is able to achieve, but a parent of a rare child will see the smaller more life fulfilling milestones. Live life with your child, don’t let this rare diagnosis consume you to the point you do not get to enjoy life with them! Take time to sit with them, study their little eyes and faces! They will grow up and you will miss the times you were able to hold them in your arms.

       Without the TBCK Foundation we would be lost. It’s the first thing I found when I typed in the name TBCK on google. It was a solid platform for us to continue to grow as a newly diagnosed family. The foundation was very small when we found out about our diagnosis. I have watched it grow like a wildfire as we get more and more diagnosed members. It is truly a bittersweet moment to have so many families diagnosed all around the world. We all share one common ground and that is TBCK and it connects us all as one big family! I truly enjoy having the TBCK Foundation help out in any way possible! This foundation has helped many and for that I am eternally grateful!