Clinical Geneticists, and their usefulness (or lack thereof)

[Justin30]

Yes, there are often treatments. It depends on the specific gene involved.

Do they use drug interventions or supplements? My Dr will is sending me for a muscle biopsie through a neuro to look for Mito issues.

Thanks

 

[Valentijn]

Do they use drug interventions or supplements? My Dr will is sending me for a muscle biopsie through a neuro to look for Mito issues.

There's often published research indicating what is used in the case studies, if there haven't been trials.

 

[JaimeS]

Yes, as you said, you didn´t always have ME so it is unlikely that your current illness is completely hereditary. I think the kind of genetic testing that would be relevant for people with ME is not available yet, and neither are any treatments that might be useful in that context.

That definitely could be true. However, some of these illnesses might present in a very ME-like-manner but only begin to present "during the second or third decade of life", including some of the glycogen disorders.

When I first read Hyde's book, I was bowled over by all the stuff that might look like ME.

I'm one of the slower-onset, too.

-J

 

[Justin30]

There's often published research indicating what is used in the case studies, if there haven't been trials.

Very interesting many of the Mitochondrial diseases said the symptom was Encephalomyopathy....well that makes sense....

Goes along exactly with what OMF and Dr Naviaux said about the first preliminary finding was in the mitochondria.

 

[Justin30]

Very interesting many of the Mitochondrial diseases said the symptom was Encephalomyopathy....well that makes sense....

Goes along exactly with what OMF and Dr Naviaux said about the first preliminary finding was in the mitochondria.

It makes me wonder if all along that Encepholomyapathy is the cause of the Mito disease....either from bacteria, virus or parasite in individulas that have the mutation?

 

[Cyndia]

The Neurologist I went to regarding my systemic and muscle fatigue ran a GAA blood test, which confirmed I am a Pompe carrier. Pompe Disease is a glucose processing disorder of the muscles, including the intercostal rib muscles which make it hard to breath. Depending on your hero or homogeneity you will be infected, or not at all or just a carrier. There are enzyme treatments now for people who don't have enough enzymes and are highly symptomatic. etc, etc,
ANyway - he referred me to a genetics counselor at our local teaching hospital. The only one we had is connected to pediatrics however they handle all genetic testing referrals from Docs. Apparently once you know which gene you are looking for, its about 200 per test. If you're looking for many it could be quite a bit more expensive. If you have symptoms that warrant the testing, insurance will cover it.

This raises another question for me - have any of you done the 23&Me genetic testing? I wondered if anyone had found any useful gene stuff there?

 

[Learner1]

There is a lot of useful information for some of us from a 23andme test. The don't interpret it, but once you've done the test and have the raw data file, there are several pieces of software to interpret it.

Then, a knowledgeable doctor can customize a treatment plan. But your symptoms and labs should come first, as not all the good or bad genes may be expressing themselves at any point in time.

I saw a genetic counselor after my cancer diagnosis, who was utterly useless. He'd been president if the national organization. Took him my 23andme results, which he ignored, even though they've explained a lot of what's gone wrong for me and other family members and my naturopath has been recognizing the dynamics and customizing my treatment.

 

[JaimeS]

This raises another question for me - have any of you done the 23&Me genetic testing? I wondered if anyone had found any useful gene stuff there?

Some, but they don't test for most of the variants/mutations on GAA -- I've checked.

 

[Jesse2233]

Did you end up seeing the clinical geneticist @JaimeS ?