Holiday Cabaret 2020
Thank you for checking out our virtual cabaret!
We are so grateful to all the talented performers that lent their time and their voices to bring us some holiday cheer and also to shed some light on Glut1 Deficiency Syndrome.
Our son Alex was diagnosed at 18 months old. Initially, there were no signs anything was wrong, but early on we noticed he was not hitting his milestones and was having episodes where his head would drop or he would suddenly jerk in his high chair or when falling asleep. After consulting with several doctors who didn’t think anything was wrong, we pushed for an EEG which indicated he was having myoclonic seizures. He was hospitalized and put on anti-seizure medication at 1 year old and underwent genetic testing.
After numerous follow up tests we received the results of the genetic test indicating Alex had Glut1 Deficiency Syndrome. The diagnosis was further confirmed via lumbar puncture and a special research red blood cell assay. He started a strict 3:1 ketogenic diet (which is the current standard of care) in the hospital and after a rocky start, we were able to get seizure control and wean him off the medication. We are very fortunate that Alex was able to get diagnosed and start the diet at such a young age, but many others are not so lucky and it takes many years, if ever, to get a diagnosis.
Glut1 DS was discovered in 1991 by Dr Darryl De Vivo who identified cases where a defect existed in the transport of glucose from the blood to the brain. This leads to various epileptic conditions, most of which do not respond to medications, movement disorders and various degrees of intellectual disability. Diagnosis is by lumbar puncture to identify low glucose in the cerebrospinal fluid and more recently genetic testing (specifically exome sequencing).
Children often go years before a diagnosis is made, trying and failing multiple anti seizure medication, all of which eventually fail. Misdiagnoses are commonplace, leading to delays in medical therapy and worsening of the long term disabilities. The ketogenic diet has been shown to control the seizures in most patients and improve some of the movement disorders. Follow up of young adult patients has shown that early initiation of the ketogenic diet leads to better long term outcomes making awareness and early diagnosis crucial.
Research has shown that this disorder is both treatable and curable. Gene therapy has been shown to reverse the disease in mice when given at a young age and studies are actively underway in primates. Therapeutics under active investigation include Triheptanoin which was recently approved by the FDA for use in another rare genetic disease (Long Chain Fatty Acid Oxidation Disorder). We have the ability to treat and reverse the course of this disease, but we need funding to speed up the process if we want Alex to be able to benefit from it. Working with the Glut1 Deficiency Foundation, we hope to raise awareness to help in our race for a cure and to help those who may be suffering but don’t yet have a diagnosis.
The Glick Family