Conversations

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• 
  gsteele | published 19 days ago | Originally written in English new clinical trial for Glut1 Deficiency patients (C7 or triheptanoin)

  Hi all,

  Dr. Juan Pascual at UT Southwestern has asked the Glut1 Deficiency Foundation to share information about the opening of the C7 clinical trial for patients with Glut1 Deficiency. All approvals are now in place and the study is officially open!

  I know this is great news for everyone who has been following its progress. As you may recall, the Meyers family (Jason, Keri, Cote, Scott, and Katie) led the effort to raise $25,000 to fund the initial phases of the study, and we've been hearing about the potential benefits to our children since our conference in Louisville in 2010. You can find more about C7 and the study (already underway in the Glut1 mouse models) in our 2010 and 2011 conference summary reports on our website:

  www.g1dfoundation.org/conferences/conferen...

  ...and yes, the new web design has gone live, but it is still getting some tweaking :-)

  For those new to the journey, the C7 oil is being studied as a potential new treatment for Glut1 Deficiency and as an alternative to the ketogenic diet.

  You may find more information on the structure and details of the study at the Rare Brain Disorders website at UT Southwestern (link below).

  At this time, the study is only open to those with a Glut1 Deficiency diagnosis who can travel to Dallas, Texas three times between now and January 2013 and who are not receiving a form of the ketogenic diet.

  www.utsouthwestern.edu/education/medical-s...

  There are instructions at the link for getting more information and for contacting the coordinators.

  Thanks to all who have helped make this study a reality. Whatever the outcome, I'm sure there will be many valuable things learned that will only serve to help our children. I know we'll all be watching very closely!

  Take care,
  Glenna
• 
  giovavinci | published about 1 month ago | Originally written in Italian GLUT1 deficiency

  Hello, I am Vincenzo's Mum, an 8-year-old who just a year ago was diagnosed with your illness, glut 1 deficit and , for around a year, has been on a ketogenic diet. I must say that he has grately improved coordination and balanc wise. Now he can run without feeling so tired to have to sit down too often. The only thing is that such diet is really difficult to follow. Could somebody please give me some adivce on how I can organize things and give me a couple of recipes? My son has ratio 2:1. Thank you so much in the meantime.

  Notice: This text content has been translated automatically by a third-party service.

  4 replies to the topic — see all replies

  • 
    ClaireandGreg published 25 days ago | Originally written in English

    We usually give meals that have a cheese and cream sauce and then put protein foods into it, much like an Italian pasta dish but without pasta, such as ham, tuna, or bacon. We also make keto muffins (see matthews friends website) as a bread substitute and then add toppings of mayonnaise with tuna, or ham etc.
  • 
    malkafab published 25 days ago | Originally written in Italian

    giovavinci, se leggi il francese, un gruppo di mamme ha pubblicato un piccolo libro di ricette che ci ha cambiato la vita... ecco il link su amazon francia. è recente, non ho trovato una traduzione italiana. è molto serio e documentato, la prefazione è del professor dulac, grande specialista parigino: nome del libro: "petits plaisirs cetogènes"

    www.amazon.fr/s/ref=nb_sb_noss?__mk_fr_FR=...
  • 
    gsteele published 25 days ago | Originally written in English

    Hi!
    Great news that you have a diagnosis and that the diet is helping! It is difficult, but seeing the good results helps us carry on! Here is a great source for some new recipes. If you have a meal calculator, you can easily adapt to your son's ratio (or ask the dietitian for help).

    www.charliefoundation.org/recipes/content/...

    Also, there are some books with some great recipe ideas:

    www.amazon.com/s/ref=nb_sb_noss?url=search...

    Best wishes!
    Glenna
• 
  malkafab | Ketogenic Diet | published 26 days ago | Originally written in French phlexyvits

  our son has been following a ketogenic diet for 4 months now, with a complement treatment of phlexyvits vitamins. The problem is that they are big pills that he cannot swallow...

  Does someone know if the same medicine is available as a powder, and also non-effervescent calcium?

  Notice: This text content has been translated automatically by a third-party service.

  5 replies to the topic — see all replies

  • 
    ClaireandGreg published 25 days ago | Originally written in English

    I do not know if you can get powdered medicine, but we crush our calcium pills and put them into cram or Calogen (prescribed fat drink) and they get absorbed that way which might work for you. Good luck...
  • 
    malkafab published 25 days ago | Originally written in French

    thank you claire, we try it tomorrow....
  • 
    gsteele published 25 days ago | Originally written in English

    Hello!
    We have not tried the phlexyvits (we use a sugar-free chewable), but have crushed other pills and hidden them in foods like Claire has mentioned. Sugar free jello works good for us - you can make a little dent in the middle for the medicine and the jello flavor is strong enough to help hide it. Good luck!

    Glenna
• 
  robpleticha | Ketogenic Diet | published 2 months ago | Originally written in English Question by email from Italy...

  Hi,

  I just received the following text in Italian and had it translated to English using our translation service.
  If you have any response, you can post it here, and I will make sure the person who wrote the email can access the text and have it translated into Italian.

  Thanks,
  Rob

  Deficiency of glut1
  Message: my daughter was diagnosed with glut1 deficiency after years of hospitalizations and exams.
  Her absence seizures are controlled by medication and the learning difficulties are concerning me.
  A metabolic center advised me to start the ketogenic diet. I would like to know if it works for the recovery of the learning difficulties. If there are people who can report me experiences or doctors who can give me advice on the treatment.
  5 replies to the topic — see all replies

  • 
    gsteele published 2 months ago | Originally written in English

    Hello!
    
    First of all, it is wonderful that you finally have a diagnosis for your daughter. Nine years is a long time to wait, but it is the same story for many of our Glut1 families. My own daughter was 10 1/2 years, and we treated her with many different medications for many years trying to control the seizures that we didn't know the cause for. There is great comfort in getting the diagnosis and finally having a name for all of the difficulties and also in having a place to focus energies in trying to help them.

    The only current treatment recommended by all of the leading experts on Glut1 Deficiency is the ketogenic diet. In Glut1 Deficiency, the brain starves for energy because glucose isn't getting there properly....so the ketones from the diet provide alternate an alternate energy source. Some drugs do help with the seizures, but they don't provide nourishment to the starving brain. You can read more about the processes and effects of Glut1 Deficiency in our brochure under the "About Glut1 Deficiency" tab on our website. It was written by Dr. De Vivo who discovered Glut1 Deficiency, or Glut1 DS. www.g1dfoundation.org

    It seems that many Glut1 families report not only an improvement in seizures on the diet, but many other symptoms as well. When the brain is finally getting the energy it needs, it often seems as if our kids wake up for the first time. They are brighter, more energetic, more aware, more coordinated, more balanced, stronger....just healthier (and often happier) in every way. This also can include improvements in cognitive abilities and speech. Sometimes the changes are quick, sometimes they take more time, and the changes come in different degrees of improvement for each child.

    The ketogenic diet is used in other forms of epilepsy, and for other neurological conditions, often with great success. It is the standard of care for Glut1 Deficiency.

    Matthew's Friends is a great resource in Europe for the ketogenic diet, and their Glut1 work is supported by Dr. Jorg Klepper in Germany, one of the world's renowned Glut1 experts: www.matthewsfriends.org

    I wish you the best! Please let us know if we can be of assistance.

    Sincerely,
    Glenna Steele
    Glut1 Deficiency Foundation
  • 
    gsteele published 2 months ago | Originally written in English

    Also, you asked about doctors who could give advice. I had the pleasure of hearing Dr. Renzo Guerrini speak at a Pediatric Epilepsy Syndromes conference here in the United States a few years ago. He was a kind and brilliant man and is considered one of the world's leading experts in rare epilepsy syndromes and in the use of the ketogenic diet. He is in Pisa, Italy... so if you have the opportunity to consult with him about your daughter I think it would be very beneficial.

    Dr. Renzo Guerrini, MD
    Address
    Professor of Pediatric Neurology
    Division of Child Neurology and Psychiatry
    University of Pisa and IRCCS Fondazione Stella Maris
    Pisa, Italy
  • 
    robpleticha published 2 months ago | Originally written in Italian

    Thanks for the responses. I had them translated into Italian and then sent the link to Anna from Italy. I invited her to post any further questions about the diet here.
• 
  gsteele | published 3 months ago | Originally written in English Glut1 story from Scotland

  HI,
  Wanted to share this great article about a great family helping educate and spread awareness:

  www.arbroathherald.co.uk/news/local-headli...

  Thanks to the Watsons!
• 
  pantin | published 4 months ago | Originally written in English Glut1 DS in Greece

  Hi Allie,
  it' s me again!
  we' ve already have an excellent neuro and a dietician that began the ketogenic diet. But my brother's baby its the only baby in Greece and I would like another opinion. He drinks in bottle Ketocal (ratio 4,5:1, 2ml liquigel and superamine with carnitine). He started the diet 40 days ago. When can we expect an improvement? What about creams?
  One reply to the topic — see all replies

  • 
    gsteele published 4 months ago | Originally written in English

    Hello!
    So good to hear that you are happy with the neurologist and dietitian - that is such an important key in successful treatment, and then just the overall feel that you are in good hands - what a comfort!
    Are you seeing any changes at all since starting the diet? More alertness? Fewer seizures? Some of the movement disorder components are slower to respond to the diet, which may still cause delays in things like rolling over, sitting up, and later crawling, walking, etc.
    Your prescribed treatment sounds ideal based on what others have shared. A good, high ratio with supplements. Are you monitoring ketones? If so, are they showing at a good high level? There is lots of tinkering that can be done with the diet, and finding the ideal ratio for each patient can sometimes take some time and experimenting. It seems that some patients do best with a high one, some do better with a lower one.
    When patients are at an age when formula can still be used, Ketocal is a great option. Many older patients who are tube fed use it as well. Cream is often used with older patients who are eating a solid diet, and while it adds fat and some food preparation options, it also adds carbs to the meal. It can also contribute to cholesterol issues, which can be troublesome for older patients because our kids are on the diet for so long.
    I wish you well! So wonderful that you have a diagnosis at such a young age.

    Take care,
    Glenna
• 
  gsteele | published 4 months ago | Originally written in English Sanford Rare Disease Day Symposium - February 25th

  Thanks to the Wienk family, the Glut1 Deficiency Foundation will have an exhibit booth at Sanford's 2nd annual Rare Disease Day Symposium on February 25th. Visit the link below to find out more and to see an agenda of the day's discussions:

  www.sanfordresearch.org/ClassLibrary/Page/...