On September 20, 2017, my 6 year old daughter, Olivia, was diagnosed with Glut1 Deficiency Syndrome. It was a bittersweet moment to receive this  news. It broke my heart to find out my little girl suffers from a rare genetic metabolic disorder but at the same time, it was also a relief to finally know was going on with her health, because our search for answers began when Olivia was 7 months old.

As an infant, she had suddenly stopped breathing and was rushed to the Emergency room. After a few days at the hospital, there was no answer as to why she stopped breathing but we learned she had Hypotonia, (low muscle tone). After her discharge, she received physical therapy till she walked. She then received Speech therapy till she was 3. As she grew, new concerns grew as well. She would get this sudden onset of floppiness in her body and would not be able hold herself up. The floppiness or "Wobbly" Episodes as I would later describe it, would happen every few months. Hunger or tiredness seemed to trigger these episodes. A couple months after her 4th birthday, we learned that she had Epilepsy, with Absence Seizures. We also found out that the "Wobbly" Episodes were not a result of the seizures. She immediately began seizure medication, but continued to get daily seizures, up to 5, upon her waking up. Her dosages gradually increased to the highest possible dosage and eventually a 2nd medication was added, which also increased to its highest dosage, with no improvement in her seizures. As we struggled to get her seizures under control, we were desperately trying to figure out what was the cause of the "Wobbly" Episodes. The "Wobbly" Episodes were increasing in frequency. We had seen a Muscular Neurologist and Endocrinologist, still no answers, that is until we had genetic testing done over the summer and learned she has Glut1 Deficiency. We now know that Glut1 Deficiency is responsible for her seizures, "Wobbly" Episodes, and Developmental Delays. Everything that Olivia experienced these past 6 years, now makes sense.

She began the Ketogenic Diet the week after Thanks Giving. It is an extremely restrictive and difficult diet to implement. We welcome the challenge of this demanding diet because since she started it, she has not had seizures nor "Wobbly" Episodes. I am grateful that the Ketogenic Diet is helping her. We are hoping to start weaning her off one of her seizure medications over the summer.

Olivia's diagnoses has given me a higher calling, a purpose in life that is beyond any desire I have ever had.  I now know exactly what I'm fighting for. I want to help raise Glut1 awareness, because no other parent should have to wait years in finding out what is going on with their child. I want to help raise funds for research that will provide treatment options for Olivia and all children and adults living with Glut 1 and hopefully one day a cure.

Thank you for showing your love for Some1 with Glut1 and helping us bring help and hope to the G1D community!