Glut1 Deficiency Foundation

Exposition Summary Report

Child Neurology Society Conference

October 26-29, 2011

Savannah, Georgia

This was an excellent conference for the Glut1 Deficiency Foundation to participate in. Our booth was well located and we were warmly received by everyone. The folks representing the Child Neurology Society were particularly friendly and accommodating. There were about 1000 conference attendees and about 900 of them were MDs. These were mostly pediatric neurologists and they came from all over the world. In addition to meeting a number of new Doctors, we were reunited with a number of our good friends including Dr. DeVivo,  Dr. Chez, and Dr. DeGrauw. It was great to see these professionals in their element.

Approximately 100 attendees stopped by our booth. To these visitors we handed out about 60 of our review articles and many more brochures. It was very gratifying to note that only a few of them (less than 5%) did not know about Glut1 Deficiency syndrome. Most were well aware of the details, were actively testing for it, and many (approx 30%) currently had Glut1 Deficiency patients. Some had multiple patients with the most being a group in Colorado with eight.

In general we received the impression that there are many more Glut1 Deficiency patients now than previously assumed. The numbers are rising rapidly as testing is expanding and covering other phenotypes (cerebral palsy, intractable seizures, movement disorders, etc.). Many doctors commented that Glut1 Deficiency is much more prevalent than originally expected because it is showing up as the root cause for many symptoms that were previously undiagnosed. One Doctor commented that “Everything is related to Glut1 now.” We visited most of the diagnostic testing booths and found that genetic testing for Glut1 Deficiency is becoming standard for a broad range of symptoms as part of a testing package. Because it is treatable there is strong support to conduct testing early. One issue continues to be the cost of genetic testing as a key diagnostic method.

Dr. DeVivo was kind enough to visit us a couple of times and pose for a few pictures. This opportunity was a highlight of our trip. As the discoverer of this condition he holds a special place within the hearts of all of the families who are touched by this condition. Many doctors who visited our booth were in some way linked to Dr. DeVivo and voiced their respect and admiration for him. We are very fortunate to have such an outstanding advocate and researcher for our children.

A number of people commented about how glad they were to see us at the conference and several even thanked us. We received positive comments regarding our Logo and about how critical parent groups are to the advancement of research and treatments. We had a number of visitors willingly sign our mailing list and in a few cases we obtained follow up actions. Many people were interested to see our son Dalton who has the condition and enjoyed interacting with him.

We had a number of interactions that were enlightening including: a) discussions with the Dravet group who are very experienced and interested to collaborate with our Foundation. They can offer significant insight in many areas b) one doctor who specializes in CP patients indicated that they were going back and testing their CP patients for Glut1 Deficiency because they felt that might be a root cause c) one doctor in Seattle had a proposal for a new way to test for Glut1 Deficiency by looking at eye movement fatigue. He mentioned triheptanoin oil and had already contacted Dr. Pascual to dicuss this d) another doctor commented on their belief in a strong link between Doose patients and Glut1 Deficiency e) during discussions with testing labs several would refer to the test for Glut1 Deficiency as SLC2A1 only (the gene where errors give rise to Glut1 Deficiency) rather than referring to a test for Glut1 Deficiency. We suggested linking the syndrome to the test in order to increase awareness.

Overall this was a great step forward for the Glut1 Deficiency community. There is a lot of momentum on this condition and this is a good time to be spreading knowledge and advocating for testing. We would definitely recommend that our families with support from the Foundation continue to participate in as many of these meetings as possible.

Photo: Child Neurology Society, http://www.childneurologysociety.org