Dr Fran Kendall?

[mille100piedi]

So the list of tests she recommends for me to look for biomarker abnormalities seen in mitochondrial disease are as follows:

Acylcarnitine Profile (Labcorp 070228/Quest 59432)
Carnitine Total Free (706500/30299)
CPK Total (001362/374)
Lactate or Lactate Acid (blood) (004770/585)
Plasma Amino Acid (095638/767)
Pyruvate Plasma or Pyruvic Acid (004788/765)
Urine Amino Acid (912147/36183)
Urine Organic Acid (716720/59433)

Ema have you done the tests that dr Kendall suggested? I am going to take an appointement with her but I read you were not very happy. It is really expensive, I have to pay 600 $ for a videocall

 

[SDSue]

I did all those tests - all were negative except the buccal swab (which isn't mentioned here). I also received a $3500 Quest bill for those tests because they refused to pay. Caveat Emptor.

 

[mille100piedi]

3500$!!!??what did they find in the buccal swab? I did already some of those test and they were positive, I probabily can do all of them free of charge here in Europe. Not sure what is a buccal swab, is a genetic test?

 

[SDSue]

The buccal swab looks at citrate synthase levels to detect mitochondrial issues. The results correlate very highly with muscle biopsies.

My buccal swab showed definite mitochondrial dysfunction. It was a waste of time and money, as there are no treatments for mito disease anyway, just supplementation which can certainly be trialed without the testing.

 

[Ema]

Ema have you done the tests that dr Kendall suggested? I am going to take an appointement with her but I read you were not very happy. It is really expensive, I have to pay 600 $ for a videocall

No, I haven't done any more testing. I'd already done some of it and it was within normal ranges. Due to a lack of treatment options, I can't see any reason to pursue this avenue any further (and certainly not with this doctor) at this time.

 

[mille100piedi]

I know there is no treatment for mito, but there are other metabolic disorder that can be treated and this is the reason I want to know if I might have mito or another condition. Also if I would be able to get a precise diagnosis I will stop searching and wondering what is wrong with me and I will use my time (and my energy) in something else more enjoyble. What do you think of dr Kendall, is she good?

 

[mille100piedi]

No, I haven't done any more testing. I'd already done some of it and it was within normal ranges. Due to a lack of treatment options, I can't see any reason to pursue this avenue any further (and certainly not with this doctor) at this time.

Is dr Kendall so bad? did she told you that, from your symptoms, you might have a mito disorder or other metabolic condition? I really want to find a doctor that take care of my case

 

[Ema]

Is dr Kendall so bad? did she told you that, from your symptoms, you might have a mito disorder or other metabolic condition? I really want to find a doctor that take care of my case

I found her to be a very poor fit for me. I did not feel like she reviewed my history well and she did not suggest anything beyond the testing list. I was extremely disappointed with my experience and would not recommend her.

 

[mille100piedi]

I found her to be a very poor fit for me. I did not feel like she reviewed my history well and she did not suggest anything beyond the testing list. I was extremely disappointed with my experience and would not recommend her.

I am really sorry for your experience. thank you for posting the testing list, I will send her my results before to take appointment with her and see what she suggest. I guess I will need to meet several mito specialist in order to get a diagnosis. unfortuantely it is not easy to find a mito specialist

 

[mille100piedi]

I finally met dr Kendall, we did chat more then one hour on the phone. I have to say that she was very prepared and she has been reading all the files I sent to her. She could explain very well everything and she could answer all my questions. I might need further genetic test in the future to confirm a diagnosis. In the meantime she suggested me some supplements that might work.

 

[Rossy191276]

@mille100piedi @SDSue @Ema

I know this is an old post but I just discovered it...I am wondering if any of you had ended up getting further testing for mito disease?

I am from Australia and had a Skype consult with Dr Kendall earlier in the year. Like a couple of you the charge was huge and because I am too weak to talk I had to type responses. All in all I found her professional but in her report she wrote that the consultation went for 90min when it actually went for 40min.

Anyway, she told me to get genetic testing which I am about to do and also mentioned a couple of newer blood tests that Mayo do which they think may correlate with mito disease

Cheers

Rossy

 

[Ema]

@mille100piedi @SDSue @Ema

I know this is an old post but I just discovered it...I am wondering if any of you had ended up getting further testing for mito disease?

I am from Australia and had a Skype consult with Dr Kendall earlier in the year. Like a couple of you the charge was huge and because I am too weak to talk I had to type responses. All in all I found her professional but in her report she wrote that the consultation went for 90min when it actually went for 40min.

Anyway, she told me to get genetic testing which I am about to do and also mentioned a couple of newer blood tests that Mayo do which they think may correlate with mito disease

Cheers

Rossy

I didn't end up doing any further testing. At some point, I just figured that it was obvious by my symptoms that I had mitochondrial issues, but that they were not likely to be inherited, so much as acquired due to long-term chronic illness.

I'm curious what tests from Mayo she is now recommending though? Did she mention which genes to look at with the genetic testing too?

 

[Rossy191276]

I didn't end up doing any further testing. At some point, I just figured that it was obvious by my symptoms that I had mitochondrial issues, but that they were not likely to be inherited, so much as acquired due to long-term chronic illness.

I'm curious what tests from Mayo she is now recommending though? Did she mention which genes to look at with the genetic testing too?

The tests she recommended were FGF21 and gdf15 blood tests and whole exome + Mtdna gene testing

 

[Learner1]

Hmmm... I have an appointment with her next week. I already have a pretty good idea of what's gone wrong with my mitochondria, and how bad my problem is from a lot of testing.

I'm trying to figure out how to fix them and was hoping for an intelligent discussion about what I'm up against and customizing a mito cocktail. Another specialist suggested stem cells, which I'm skeptical of, but I'd like to hear what she has to say.

Is this at all possible, or should I cancel the appointment? Thank you!

 

[Rossy191276]

Hmmm... I have an appointment with her next week. I already have a pretty good idea of what's gone wrong with my mitochondria, and how bad my problem is from a lot of testing.

I'm trying to figure out how to fix them and was hoping for an intelligent discussion about what I'm up against and customizing a mito cocktail. Another specialist suggested stem cells, which I'm skeptical of, but I'd like to hear what she has to say.

Is this at all possible, or should I cancel the appointment? Thank you!

Hi @Learner1 its up to you whether you go through with the appointment but if you do I'd love to hear about your experience with her...

I guess the thing with her is she comes from the perspective of primary mito disease and I went to her with the idea that I likely have ME (whatever that is) but I am trying to learn if it could be genetic mito disease. I told her lots of different things that she said she didn't see with genetic mito (or very rarely) as soon as I said that I had migraines, dysautonomia, and muscle weakness that left me bedbound and unable to speak for months at a time, as well as having some family history of potential mito symptoms she said I should have genetic testing. I had already had a muscle biopsy that revealed type 2 atrophy and reduced glycogen but not traditional signs of genetic mito. She also suggested I get respiratory chain enzyme function testing done on muscle tissue done if possible but from my understanding this wouldn't differentiate whether it is primary mito or secondary dysfunction.

From memory she did ask what I wanted from her so if you tell her your intention and have sent her all your results beforehand it might be worth your while...

Cheers...Rossy

 

[Learner1]

Thanks @Rossy191276 - I appreciate your thoughtful response.

I have communicated with her office given what I learned here to clarify my goals, which are to optimize my mito function, which is very poor, and avoid diseases like Parkinson's and cancer, which my parents have, and which some of my issues make me at risk for.

My doctors have already identified several things that have caused my mito dysfunction, including peroxynitrites, mold, arsenic, iron overload, my chemotherapy drugs and Cipro use.

Whether or not I also have primary mito disease, my goal is to optimize the ones that I have, getting rid of the sloppy senescent ones and damaged ones, and recycle them into happy new ones.

I've tried all the typical mito supplements, which is how I function as well as I do (working part time and being able to carefully exerxise), but I feel like I'm spending a lot of money treading water, which is unsustainable, though reducing the ongoing damage, piece by piece, has made the problem simpler.

It would be lovely to find a mito and metabolism specialist who specializes in secondary mito dysfunction, which affects most people over 40 to some degree.

I've gathered that the mismatch on this thread between expectations abd experience with Dr. Kendall is that she seems to be an excellent geneticist devoted to primary mitochondrial disease, where we are a more complex group of patients that possibly have a genetic component, but may also have many other confounding factors complicating things, so we need a more comprehensive view of how the mito piece fits into our situation, and most importantly, what we can do about it. Her office has been quite helpful and responsive so far.

Does this make sense?

 

[Silence]

The tests she recommended were FGF21 and gdf15 blood tests and whole exome + Mtdna gene testing

Hey Rossy, I did see that mayoclinic has the gdf15 listed on their website as a way for testing Mitochondrial disease/myopathy , but I couldn't find the FGF21 test . Did she say mayoclinic offered this one too. Or perhaps was it somewhere else?

 

[Rossy191276]

@Learner yes that makes sense...

I think her big price tag relates to the huge amount of results she often has to review before first appointment. As you say I think her specialty lies in primary mito and the reason I went to her is to try to rule out that for myself. I'm really not sure what she will be able to offer you above and beyond advice regarding the usual mito cocktails but it will be interesting to see if she can help for your aims...

Hi @Silence I am pretty sure she said Mayo did both... I think the issue with these tests at the moment is that the research is still relatively limited and I don't think they differentiate between primary and secondary dysfunction and they are also high is some other diseases. I looked at one paper where they were saying that results are non-specific and that some researchers think they are an indication of cell stress...

 

[Learner1]

Of course, our cells are stressed.

My MitoSwab results suggest mine are damaged. I can either sit around and wait for more cancer to kill me or to acquire some neurological disease, like Parkinson's, or figure out a way to fix the ones I have.:thumbdown:

Specialists for this are almost non-existent, but this is the type of diagnosis and care many of us need.

 

[Ema]

I've gathered that the mismatch on this thread between expectations abd experience with Dr. Kendall is that she seems to be an excellent geneticist devoted to primary mitochondrial disease, where we are a more complex group of patients that possibly have a genetic component, but may also have many other confounding factors complicating things, so we need a more comprehensive view of how the mito piece fits into our situation, and most importantly, what we can do about it

I think this is true, and I wish I had known it before I spent $$$ on her.

but I couldn't find the FGF21 test . Did she say mayoclinic offered this one too

I'm looking for this one too. I haven't had any luck finding it anywhere yet, but plan to check with Mayo tomorrow. I've also got a call to my local contact at Quest to see what they have to say.