From Tiffany’s Mother

Tiffany is my beautiful daughter, who was diagnosed when she was 10. She was developing normally, until around 3 and half years of age. She was able to run, talk, write and started learning how to read. At first, we thought and were told that she had intellectual disability. We were referred to a neurologist who had some MRI’s done, but he was not able to see anything wrong in her brain. That was around age 7. She continued regressing to the point where she could not write anymore. She started losing her speech. Finally, we changed our medical insurance to PPO and were able to take her to see another neurologist in Rady Children’s Hospital in San Diego. Her neurologist there had another MRI done. She ordered an EEG, etc. But could still not find out what she had. Finally, he referred her to a Geneticist. After a battery of tests, her doctor was able to find out that Tiffany had GM1. She called us and told us the news. She has continued regressing. She can barely say a word here and there. We continue to engage her in conversation. This year was very hard because she almost could not walk anymore. She was very scared when she was being transferred from the sofa to her wheelchair. She started crying like never before when we had her stand or sit or lying down in bed. She looked terrified. She could not tell us what was happening. It was heartbreaking. We have gotten a hoyer lift and a good wheelchair for her. Fortunately, in the last few weeks, she doesn’t seem as scared when she stands or sits. She still screams when I lay her in bed. It is as though she feels she is falling.
Tiffany has the most beautiful smile. She is a loving girl who gives hugs to everyone. And she is such a princess. She is my light.