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let's help Mark Alexandrov in campaign "Love some1 with Glut1"

by Mark Aleksandrov

Supporting: Love Some1 with Glut1 for Glut1 Deficiency Foundation

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Campaign has ended.

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Thank you for showing your love for Some1 with Glut1 and for helping us bring help and hope to the Glut1 Deficiency community. Good afternoon, I'm Julia Alexandrova, the mother of a special baby Mark Alexandrov. At the moment we live in the city of Khimki, Moscow region. Now Mark is almost 6 years old. From the age of 2 he is on disability. At the age of two months, my son began to have strange attacks with eyeballs - they rushed uncontrollably in different directions. Approximately from the age of 2, seizures began to change - his hands, legs, jaws contracted, his body twisted and arched, and it can last for 12 hours in a row.
 
In Moscow Mark was diagnosed as "epilepsy", someone assumed that it was cerebral palsy, but there was no consensus among doctors.
I grasped every opportunity to find out what my son is sick: we went to China, went through treatment for a long time, then several times were examined in Israel, but everything was without result.
 
And only in the past, in 2016, in April, we miraculously got to Italy to the clinic of the Pope, where we literally on the second day were finally diagnosed as a very rare genetic disease- Glucose Transporter Type 1 Deficiency Syndrome.
I found a medical center in Togliatti, where the child can be put under control and, most importantly! - learn how to cook correctly for him, since after the correct intake of food, Mark has ceased seizures since May 5, 2016, and to this day. He has normal crotch and glucose. We deal with speech therapist, neuropsychologist and periodically go through rehabilitation. And every day he takes soda and vitamins.

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.

www.G1DFoundation.org



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