- Our son Drew has a RARE DISEASE and as many of you know each year we have a fund raiser in February to coincide with RARE DISEASE DAY on February 29. This year is no different so THANK YOU in advance.
Drew was our third child and by 6 months we were a bit concerned about strange movements and reactions to stimuli. At first our Doctor told us not to worry but 3 months later Drew still had not hit the normal milestones so we went to see a pediatrician. After some testing the Dr came in and told us Drew would probably never develop beyond a 5 year old and may never walk or talk.
The power of prayer is what got us thru the first few hours but then God's Grace came over us and we just Trusted His Plan.
After struggling for 17 years with a diagnosis of epilepsy, developmental delay and cerebral palsy our neurologist suggested a test for a rare disease that had recently been discovered and he thought Drew might be one of those RARE kids. Amazing how GOD works! Our son was the 24th patient in the world. His disease is called GLUCOSE TRANSPORTER PROTEIN DEFICIENCY. Hard to wrap your head around that let alone try to explain a Disease that only a few in the world knew about. I will try to explain. Drew lacks the normal amount of transporters that take glucose into each cell of the body to produce energy. This has helped explain the movement disorder because his muscles do not have the energy to react. The seizures are caused from an imbalance of energy needed to maintain normal signals and the developmental delay is from not having energy in for the brain to grow and develop as a normal child would. We learned a lot of this during a time when we had rotary dial phones, no internet, no answering machines and no caller id. Since it was so new there were not many scientific articles written about it that you could just go to your library and look up.
However DR DEVIVO, the researcher, from Columbia University in New York who discovered this did not give up and his staff helped keep us all informed of the advancements. I still have one of the earliest newsletters that was typed out and mailed to us. What changes the internet brought! We have had many new parents search the internet for answers to their child's symptoms and they are directed to our foundations web site where they can find HOPE !
Since many of you know DREW you know he is a great young man who walks and talks a little different than most but has a smile that will light up the room. Thanks to the ongoing RESEARCH Drew has been almost seizure free while on the experimental oil.
This is where you can help us Help Drew and all the other patients with a donation to THE GLUT1 Foundation we parents started and run. We do pay one parent a minimal salary but all the rest goes directly to RESEARCH, EDUCATION ,AWARENESS and HELP. THANK YOU for donating.. Please use the donate button and then after entering the amount you would like to donate please use the arrow down to search for Drew's name Thank you ALL
The Love Some1 with Glut1 annual campaign is the primary awareness and fundraising event for the Glut1 Deficiency Foundation. It runs from February 14-28, Valentine's Day through Rare Disease Day, and it is an important opportunity to spread awareness and raise much-needed funds to help better serve the needs of the Glut1 community.
Please visit our website to learn more about Glut1 Deficiency and the work of the G1D Foundation.