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

Posted , 6 users are following.

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

Report / Delete

8 Replies

  • Posted

    Have you found the support group at https://www.agsd.org.uk/?  Also the Facebook group for GSD7. You will find a few other type 7 people there.

    Report / Delete Reply
  • Posted

    Hello Andrewwakelin,

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

    Report / Delete Reply
  • 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.
    Report / Delete Reply
    • 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.
      Report / Delete Reply
  • 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.

    Report / Delete Reply
  • 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.

    Report / Delete Reply
  • 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?

    Report / Delete Reply
    • 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?
      Report / Delete Reply

Join this discussion or start a new one?

New discussion Reply

Report or request deletion

Thanks for your help!

We want the forums to be a useful resource for our users but it is important to remember that the forums are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the forums is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.

newnav-down newnav-up