Meet our Keto Kid - Macie. In her family’s eyes, she is a hero by any measure. She has a rare metabolic condition called GLUT1 Transporter Deficiency Syndrome. In GLUT1 ds patients, there is a problem with the way glucose reaches the brain and it is left starving for the energy it needs to grow, develop, and function properly. Ketones give the brain an alternate fuel source, and although the ketogenic diet doesn’t completely resolve the issues and symptoms associated with GLUT1 ds (seizures, movement disorders, speech/language and developmental delays), it can give a great deal of relief and improvement.
Even though she is not seizure free, Macie is doing well today - but the path that led her to this point has not been an easy one. Although Macie began having seizures around her first birthday, it took nearly 10 years to get the correct diagnosis for her. We stumbled along for a very long time looking for answers in the world of intractable epilepsy and were desperate to find something to help her – a dozen drugs tried and failed, alternative treatments, even the VNS. Macie’s seizures numbered in the hundreds on most days and left her in a fog that affected every single aspect of her life. The only treatment that ever offered lasting relief and improvement has been the ketogenic diet.
We had turned to the diet earlier in Macie’s life, long before the GLUT1 ds diagnosis, when we felt we were out of options. We had to search for a neurologist willing to offer it, and ended up driving 4 ½ hours from our home to find one. She showed dramatic improvement from the minute she got into ketosis, and she was able to come off all medications within a couple of months. We felt as if we were witnessing a miracle as we watched our daughter’s coordination, balance, concentration, speech, alertness, and seizures improve.
The ketogenic diet is a way of life for a very long time for GLUT1ds patients – most continue some form of it through puberty. It takes a commitment from the whole family, and it isn’t easy – but that is relative. We’ll take the diet any day over helplessly watching our child lose so many moments of her life to seizures – there is nothing easy about that. In a way that is difficult to put into words, the diet is actually empowering to us as parents in that we feel as if we are doing something – with our own hands in addition to our hearts – to help Macie.