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Anyone else have Glycogen Storage Disease Type VII (Tarui Disease, Phosphofructokinase Deficiency)?

Posted , 6 users are following.

Otherwise_Happy
Otherwise_Happy

Hello,

I finally have an acurate diagnosis to explain why I have poor tolerance of food, exhaustion, progressive weakness, nausea, pain, exercise and activity intolerance, brain fog, eye pain and dysfunction, and declining function.

I am an occupational therapist and a former physical therapist so I have been trying to use my knowledge and experience as a rehab professional to help myself, but none of the rules apply to me. I am getting worse very fast and I can hardly take care of family or myself as it is.

I would love to meet at least one other person in the world that has the same condition I do.

Do you or someone you know have experience using the Ketogenic Diet for improving energy with Tarui Disease?

 I feel horrible after I eat anything, even fats and proteins.

Can you recommend a metobolic dietition?

Can you recomment a doctor or center who specializes with glycogen storage disease, esp Type VII?

Can you recommend any suggestions for severe eye pain/ headaches?

I live in Connecticut in Northeast USA but I am willing to travel anywhere in the world if I need to. (I'd love an excuse to go back to the UK!)

Thank you for any help you can offer. And if you are on this site it means you or a loved one suffers as well, and I am sorry.

Fondly, Otherwise Happy

 

1 like, 8 replies

8 Replies

  • Otherwise_Happy
    Otherwise_Happy

    Posted

    Hello Andrewwakelin,

    No, I had not seen the support group. I will check it out! Thank you so very much!!!

  • liinal
    liinal Otherwise_Happy

    Posted

    Hello. My name is LiinaI noticed that last conversation was year ago, but I have same desease. I am from Europe. Will be nice if I can talk with someone like me.
    • andrewwakelin
      andrewwakelin liinal

      Posted

      If you read back a few comments there is a link to the AGSD-UK support grpoup details. Click through to our web site and you will find some informatlon on GSD Type VII. We have a co-ordinator for the 8 diagnosed people that we know of in the UK. There you will find a link to the GSD Type VII Facebook Group. That has 58 members worldwide. We believe there may only be about 100-20 diagnosed in total.
  • Sisk
    Sisk Otherwise_Happy

    Posted

    I have PFK deficiency and I live in Westchester NY.

    I am looking into a Keto diet but feel it's a little to extreme and am thinking that a low carb but not as low carb as keto planned with excercise is the best method to keep up ones strength.certain carbs I think are easier for our muscles to use soda or white rice is the worst but maybe more complex don't overtax the system as much. If you have any questions let me know.

  • andrewwakelin
    andrewwakelin Otherwise_Happy

    Posted

    I have GSD Type V (McArdle Disease) myself and am the co-ordinator of 284 of us here in the UK, but I also know 6 people in the UK who have GSD VII (Tarui Disease). And I know a young man in California with Type VII. He is doing incredibly well on a ketogenic diet. Type VII is very rare, some papers suggest only about 100 cases diagnosed worldwide, though that may be out of date - maybe 200 cases? The ony Dr I know of in the US who has a degree of knowledge on this condition is Dr Ron Haller in Dallas Texas. If yo wish to go the the AGSD-UK web siet and usew thr "Contact us" page to send me a message with your email address I can put you in touch with both these people.

    https://www.agsd.org.uk/

    Have you found the Facebook group for Type VII? There is a link in the Type VII sectlon of the AGSD-UK web site. 58 members.

  • chris0705
    chris0705 Otherwise_Happy

    Posted

    Hi. "Otherwise Happy" I have GSD VII also and live in CT. I was diagnosed about 11 years ago and symptoms seem to worsen as I get older. Are you still in CT?

    • Sisk
      Sisk chris0705

      Posted

      I live in Mt Kisco NY. And could you describe what you mean by getting worse as you grow older? What were you like before? How has it gotten worse? Have you tried any changes in diet? At what age did you begin to notice a change?
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