Elisabeth was born in 1994 and was a true failure-to-thrive baby. We were told she had a mitochondrial disorder but genetic testing at that time came back inconclusive. She had global developmental delay, a seizure disorder, and never developed language. For most of her life she was relatively healthy but in 2020 she started having some unexplained medical issues. In the summer of 2023 her neurologist suggested re-doing genetic testing to try and determine exactly what she had. A few short months after sending out her sample she started having constant uncontrollable seizures. She was in and out of the hospital for 4 months and going downhill fast and no doctor could figure out what was causing her crisis. Then we received the news in December that her testing came back and she had GAMT Deficiency. We finally had an answer and there was treatment!

We are now a year into her new season of life and we’ve been watching a miracle happen right before our eyes. She is now a happy, full-of-life girl! Her laughter is contagious and fills us with such joy it’s hard to explain. She loves music, being with her friends and family, going to church, and especially Barney! :-)

She has started speech therapy and is learning ways to communicate through a laptop. It is a slow process but she is engaging and responding in positive ways. We have also heard her try to say a few words which is amazing! And she has started becoming open to toilet training.

The hardest part for us was learning that if she had this testing at birth and started the protocol as an infant, her life would have been very different. But we are thankful that we were able to get answers and are very hopeful for her future! We are so thankful to be a part of the ACD family and are grateful for all that is being done to further research and find answers to these rare genetic disorders!