When Colin was about 3-4 months old he began having seizures. In the beginning he was experiencing a seizure once every few days, of course never in front of the doctors. Colin had an EEG and to my surprise the doctor said that he was fine and that the episodes I was witnessing were not seizures. It was mid April when one morning Colin was sitting in his swing he started to have a seizure. Determined to show the doctors, I grabbed the video camera and recorded an episode for about 3 minutes. That began our long journey to a diagnosis. The doctor put Colin on Phenobarbital and the seizures progressively got worse. He was beginning to have upwards of 150 a day.
Our diagnosis road began April 1999 and the roller coaster ended in October of that year, when Colin was diagnosed with Glut-1 DS, an extremely rare condition leaving him with severe global developmental delays. At the time of his diagnosis there were only 11 known cases in the world. The doctors told us that there is no cure to fix this but just a treatment. The treatment is the Ketogenic Diet. The hope is to be on the diet and have good seizure control without the aid of medication. Colin Started the Diet on October 29, 1999 at St. Christopher?s Hospital in Philadelphia.
I will never forget being in the hospital waking up the morning he was in ketosis for the first time. He was actually trying to play with a mobile that was hanging above him. His fingertips could just barely reach the toys that were attached but he was determined to touch it!! . Up until that point he really had no movements on his own. He smiled very little, could not roll, sit-up or hold his bottle. He was like a vegetable barely moving, except to have a seizure. The first day on the diet he started to move his arms and play with a toy. This was so exciting for us. We knew things were going to start looking up.
Colin came home from the hospital, He was doing very well. They took him off the medicine and we focused on the Ketogenic diet. Early interventions stepped in to help with physical, cognitive and speech therapies in the home until Colin started school on Jan 25, 2003. While receiving early intervention at home, I took the initiative to continue what they were doing even when they were not there. I would brush his body every hour, I put him in a hula hoop to help him balance for walking, I would rub his hands on the carpet to increase his stimulation. Colin started to improve daily and very quickly. Colin was starting to walk and began signing things he wanted. He was becoming more mobile then I thought he would. We were nervous but excited for him to start attending a place where he would get the help he needed. At this time it was unknown what type if any language Colin would have. We just wanted to implement a method that was going to be effective for him. Since early invention therapists where implementing the PECS system we wanted to make sure he continued this method of communication.
Colin began to do many things. He was walking steadily and beginning to feed himself. He never really got the potty training thing, but we tried all the time. (He does like to flush the toilet repeatedly!) He was extremely delayed but, health wise we were very happy.
Then during, the winter of 2004 Colin had malrotation of his intestines and needed major surgery to correct this issue. The recovery was long. Colin was given a G-Tube placement in his abdomen. Through this we would be able to give Colin food and medicine. He started to be able to eat solids 3 weeks after the surgery. He was not happy about it. He fought eating all of the time. The Dr. suggested we use the Keto formula. This would help while he was trying to regain the ability to eat again. He never did and Colin is still currently on the formula.
Today Colin is healthy and happy most of the time. He currently is functioning on a 2 year old level. He needs assistance in bathing, toileting, feeding, dressing and all basic self help skills. He is non verbal and still struggles to grasp a form of communication. Screaming or crying are the main ways he tries to express his discomfort. We are working on getting him a talk board for communication. He has major balance issues and has to be monitored in case of a fall. The Ketogentic diet has left Colin fighting daily nutrition issues. He has been diagnosed at the age of 11 with osteopenia, and high cholesterol. He has kidney and digestive problems. He is under weight and has not body fat. The diet is not meant to be on for more than a few years. They are currently looking for other treatments for glut 1 ds, but the lack of patients is holding up there research. Colin, is able to follow one step directions. He loves to watch his siblings play outside and go for walks. He loves movies, music and anything that lights up or spins!
My goals for Colin are just as any other mother in the world. To have a fulfilled life of learning, love, good health and happiness!
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.