"Little C" is one of the happiest kids I know. He was born with severe genetic mutations one being GLut1. Glut1 is a metobolic disorder that starves the brain of the energy it needs to thrive. The only treatment is the ketogenic diet. The condition is was so rare that Colin was the 11th confirmed case in the world.
He was born on January 24, 1999. He only weighed 3 lbs 14oz. He was in good health and needed very little assistance from the NICU. Colin was allowed to go home after only 10days in the hospital. He began to gain weight and was growing nicely. Upon our one month visit at the doctors, she noticed Colin had hip dysplasia. In order to correct, he had to be placed in a brace for several months. 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 at 16 years old 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. He has severe 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 16 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. Now that he is a teenager Colin has grown into a young man! That means harder mobility. Colin was recently diagnosed with Scolosis, kyphosis and uraphosis and other severe bone deformalities. All of these conditions are making it extremely difficult for Colin to remain mobile.
(YOU would NEVER guess it! He smiles all the time! Truely makes you stop and realize how lucky we all are daily just to do the simple things in life)
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! Since,his diagnosis is very broad and he has several underlining genetic mutations other than the Glut1 DS and since both us are emloyed Colin does not recieve any disability assistance. At least not until he is 18. It is difficult to give him the simple things, like a stroll on the beach or even good speech and physical therapy.
Every year my family and I take a vacation to OBX in North Carolina. Each year, Colin is the happiest and makes everyone laugh! He loves to sit on the deck and watch the waves. We used to be able to walk him down to the beach and sit him in a chair and he would watch the waves for hours! laughing and smiling!
Recently it has become impossible! He can barely walk to and from the car.
He is getting a wheel chair for long distance walking but, how do we get him on the beach? How do we take him outside for baseball season through fields and rough terrian? Colin goes to all his brothers baseball games!! His loves every minute. We decided to research beach wheelchairs or all terrian chairs for disable. We found a perfect chair for colin but, it is 2500! We asked for birthday gifts of cash this year and christmas so we can start a little piggy bank for him to get this chair by the summer. Many of my friends have asked me for info and where they can donate. So I decided to create this page! I hope you enjoy the story of Little C.
We all strive to give our children the world. I strive to just be able to provide him a life full of learning, love, good health and happiness!
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- Rebecca and Matt McCool
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