Dominic was diagnosed with Glut 1 Deficiency almost 5 years ago. He has been on the ketogenic diet for over 4 years. Our journey to get to a diagnosis was a struggle and the journey after diagnosis has been amazing. We have met so many people who we can not imagine not being in our lives.
When Dominic was 5 months old he began having short episodes of rapid eye movements with a one- sided gaze. His Neurologist ordered an MRI and a 5 day ambulatory EEG. Both were normal. On May 5th 2011 Dominic had a grand mal seizure. This was his first and only one to date. We were then started on Keppra. In the mean time Dominic seemed to be reaching appropriate milestones.
The rapid eye movements progressed to rapid eye movements coupled with weakness of the whole body and lip smacking. It always would seem to happen at mealtime in his high chair. We would have periods of time where there would be no ?seizure? activity and then we would have a hard few months. At 12 months of age I started worrying about Dominic not babbling and not pulling himself up to walk. He also never seemed to be able to entertain himself. He couldn?t even sit in a bouncy seat for a few minutes by himself to play. The pediatrician was not concerned about development nor was his neurologist. Dominic walked at 18 months of age but not well. Very unbalanced and many falls. He also was not speaking, only making non-verbal gestures and ?huh? sounds for things he wanted. I began seeking physical therapy and speech therapy. Although we probably needed occupational therapy as well, his fine motor deficits never seemed to be as remarkable.
Dominic?s seizure activity than progressed to left sided weakness episodes (as if he had had a stroke) and episodes in which he would not be able to move his body at all. He might lean to one side and not be able to hold himself up, his gait would worsen, and he would get pale and agitated. Again I always noticed this was worse at meal times and he would be better after eating a meal or drinking milk. Lamictal was then added along with the Keppra. My biggest concern began to be how Dominic?s milestones would regress after a seizure. He would finally learn to do something, have a seizure, and not be able to do it again for a period of time. Watching your child regress in everything they do is just so painful. We began feeling hopeless. We were fearful of what was to come for our son. We were told by some to stop looking. As one last effort we saw a Genetic specialist at Children?s Hospital of Philadelphia. Dom had genetic lab testing performed and was diagnosed with GLUT 1 in July 2013. An LP supported the diagnosis.
This news was both devastating and a relief at the same time. We started the ketogenic diet in September of 2013 and he has made miraculous progress. Some improvements came immidietly and others took some time. His attention span was the first thing to improve. Initially his posture is more relaxed and he didn't look "hazed " anymore. He was finally able to try and do the things a 3yr old should be able to do. Now Dominic's gait is completely normal when walking and slightly ataxic when running. He does have a tendency to fall but much less then he used too. Self feeding is always a struggle but not because he can not do it, more so he doesn't want too. Dominic is now full of life and energy. His speech and verbal abilities have exploded. Dominic built a castle out of blocks 7 days after being on the diet. He had never done this before. Now he build lego sets! Dominic is in first grade. He learns differently or sometimes a little slower then other kids. He struggles with writing and fatigues quickly. He has good days and bad days, but mostly good days. Sometimes if he is sick, or for sometimes unknown reasons, his left leg will appear weak. His gait will be altered and he will seem like he is having a hard time performing all functions. Usually hydration and feeding him will help and then the symptoms will pass within a day or two. The difference for us on the keto diet is that after Dominic has an "episode" his milestones do not regress as they did prior to the keto diet. I would say our biggest struggle with Dominic is that he is easily fatigued by exercise; especially walking long distances. Heat seems to make this even worse. We do not let this stop us. We find ways for Dominic to participate in everything. We choose indoor activities when it is hot out and we use a stroller/wheelchair for when he can't walk a long distance.
There are many people less fortunate then Dominic. The ketogenic diet has been successful for Dominic but it is not an easy treatment and many are not successful. We are in search of easier and more effective treatments. To find these treatments we need researchers and more importantly the funding to drive the research. The Glut 1 Foundation directly funds research projects to directly benefit our Glut 1 kiddos.
Dominic is the bravest boy we know. We can?t imagine what he has gone through in his early years of life and how unbelievably happy and loving he has been. He rarely gets frustrated when trying to communicate, he loves being with other children, and when he can't do something because of his disabilities he either lets it go or tries to do it again.
Thank you for showing your love for Some1 with Glut1 and for helping us bring help and hope to the Glut1 Deficiency community.
Glut1 Deficiency is a rare genetic condition where glucose doesn't reach and fuel the brain properly, resulting in a wide spectrum of neurological issues affecting brain growth, learning, movement, speech, and often causing seizures. There are fewer than 1,000 people diagnosed in the world, but experts believe there are many, many more patients still waiting to be found. Because Glut1 Deficiency is so rare, many in the medical profession don't have the knowledge they need to diagnose and properly treat it.
There is a very effective treatment for most patients - a ketogenic diet, and the earlier patients are diagnosed and start treatment the better the outcome. As fortunate as we are to have the diet, it is not a cure, not a complete treatment, and it is not easy. We need more research for better understanding, better treatment options, and ultimately a complete cure.
The Glut1 Deficiency Foundation is working hard to bring help and hope to the Glut1 Deficiency community.
The Love Some1 with Glut1 annual campaign is our primary awareness and fundraising event. It runs from Valentine's Day (February 14th) through Rare Disease Day (February 28th), and it is an opportunity to spread awareness and raise much needed funds to help better serve the needs of the community. All donations help fund our mission programs for increased awareness, improved education, advocacy for patients and families, and support and funding for research.
some highlights our supporters made possible in 2017
Please help us continue our mission.
We can do so much more together than any of us can do alone.
please watch our special thank you video
Please visit our website to learn more about Glut1 Deficiency and the work of the G1D Foundation.