Help and Hope for the Glut1 Deficiency Community

 

Vivian Mathis, Glut1 Deficiency mom from Argentina, has a blog called Glut1Mom.com.  She shares lots of helpful information and tips in Spanish and helps provide translations for the Glut1 Deficiency Foundation. 

Vivian did a story on her experiences at the Glut1 Deficiency Foundation conference in Nashville recently, and we wanted to share.  You can find her original post in Spanish here.

 

The English version of her blog post is below, with thanks to Professor Jimena Del Azar for help with the translation!

 

 

Thoughts on Nashville 2017

It is very difficult to explain what one lives through and feels while participating in the Glut1 Conference that is organized every other year by the Glut1 Foundation in the USA. At times it is as if the whole world has ceased to exist, and we were living in a world of ketogenic diets, Atkins, and different ratios; a world where the only important ones are our beloved ‘Glut1 children.’ Anxiety, emotions, uncertainty, answers, doubts; everything gets mixed up through hours of listening intently to the professionals who know most about, and study this illness, and the parents eager to improve their children’s quality of life.

And there are other moments when parents who’ve met for the first time seem to lose themselves in long embraces as they live similar situations in opposite corners of the planet, or when parents can have hallway chats and consultations with doctors who seemed unreachable and are now encouraging you to continue, or when you witness children and teens eyeing each other shyly knowing they are on a similar path.

This conference, the seventh one organized by this foundation, counted with the attendance of 46 children, young people, and adults that have this illness, together with their family and friends, as well as 16 professionals; all together representing 11 different countries.

I must say that from when I attended the last conference in Orlando in 2015 until this one, the advances in terms of the investigation have surpassed many of the expectations. First of all because it’s been proven that the amount of research and papers published about Glut1 Deficiency have increased, and because there have been surveys conducted with a great number of patients which have brought to light information that, in many cases, has changed the focus of several paradigms that the professionals had as certain. Furthermore, certain treatments, which are still in their preliminary stages, and which have also proved quite successful so far, were presented. The treatment with C7 oil, which is being led by Dr. Pascual for patients in the US; and genetic therapy, which is led by Dr. Darryl De Vivo, and was presented at the conference by Dr. Umrao Monani, are two examples of these newer treatments. Dr. Monani claimed that it may be possible to begin with this therapy in humans in 5 years.

I had the chance to participate in all the presentations and learn a lot. I will share my thoughts and conclusions, suggesting as always, that they be read and interpreted with as open a mind frame as possible, understanding that this illness is fairly “new” in terms of its discovery (even though it’s being studied more and more), remembering that every treatment must be indicated and followed by a professional, and that not everything that one hears or reads about can be applied to every patient.

According to the Glut1 Deficiency Foundation, Kristin Engelstad, genetics counselor at Columbia University Medical Center (New York), will be creating the summary for this conference; and those presenters who may wish to share the material they used for their presentations will do so through the Foundation’s website. (As soon as this is available you’ll be able to find it through this blog as well.)

Some of my conclusions:

  • Even though we may share an illness, the treatments are individual, and each patient may react differently.

 

  • Ketones are very particular for each Glut1, some function very well with 2.0 while others need 5.0. One must observe which level is better for each patient.

 

  • At the beginning, the Ketogenic Diet seemed to be ‘THE’ treatment for this illness. Now professionals claim that the Modified Atkins diet may provide the same results, improving the patient’s quality of life while being less restrictive. This clearly depends as well on the patient’s age, as there is a stage in which the Ketogenic diet is still recommended for children to ensure the brain will get the necessary ‘fuel.’

 

  • There is advanced research in other treatments that are proving successful such as the C7, ketones in salts and esters, and there is a lot of expectation around genetic therapy, which is forecasted to become available in five years.

 

  • Professionals are now focused on finding how to improve the neurocognitive area and the disorganized movements of the Glut1. It’s been proven that the Ketogenic diet works to control seizures, so they’re interested in making progress with other problems.

 

  • There are many new products that can make life easier for families and the majority are available on Amazon. (I will soon write another blog entry fully on this.)

 

  • There is someone else in an opposite corner of the planet who lives this ketogenic cooking just like you, and they find it just as complicated; so we’re not alone!!

 

 (Thank you for the contributions of all the moms I shared this article with, and above all to those moms with whom I shared unique moments at the conference. Thank you Marjorie, Sandra, and Marisa, three fierce lionesses!! And thank you thank you each one of the members of the Glut1 Foundation for being such an inspiration)