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Rachel

Mitochondrial Disease Update

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Earlier this month I went to see Dr. Cohen in Ohio about the possibility of a Mitochondrial Disease. It took me a while to recover and feel well enough to post an update, but here I am at last.

I really liked Dr. Cohen. He was very kind, very knowledgeable, and very thorough. He spent about an hour with us simply getting a detailed medical history, after which he ordered numerous tests. I had 14 tubes of blood drawn ? they are checking everything, including things I?ve never heard of before! He also had me stay at the clinic for a few more hours so that they could go ahead and do a skin biopsy. They are now cloning my skin so that they can grow more as they need it over the next few months and years to do further testing.

In all of these different tests, some of the things Dr. Cohen is looking for are genetic mutations in the mitochondrial DNA. There are 400 known mutations. He said I might have one of those, or that they may find a new mutation. He is also looking for anything that may be missing in the metabolic pathways to the mitochondria, such as a specific vital enzyme or chemical.

I asked Dr. Cohen if he thinks that I have a mitochondrial disease. He said, ?Yes, definitely.? He said that the task before us now is to find out which one. Depending on which specific mitochondrial disease I have there may be a treatment option, though a treatment to reverse or stop the progression is rare. Dr. Cohen said that it may be that we find out what is wrong, but won?t be able to do anything about it, and that my health will continue to degenerate. We?ll just have to wait and see.

I'm glad to be getting some more answers, even if they aren't the answers I'd like to hear. As my health problems have continued to progress in severity over the years, with little response to treatment, it has become apparent that I have much more than POTS going on. Dr. Cohen is the third doctor now to admit that, yes, something degenerative is going on. Hopefully we can find out what. That would be helpful in and of itself. I would just like to know what is going on and what I'm facing, even if the news is very bad.

That?s what I know for right now. It will be several weeks, at least, before we hear anything back about the tests. It could be months before they find something definite. I?ll let you all know when I have more information.

Rachel

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Rachel,

I'm so glad to see you're making progress towards a DX. How frustrating to have symptoms as severe as yours without even a name to place on things. You're denied even that tiny bit of validation. (So many here can identify!) Dr. Cohen sounds wonderful. I feel confident that he'll come up with with something to treat you, possibly halt the progression of things, or at the very least- give you more information. Your case may also shed light on others similiarly affected. Congratulations on getting a step closer to a possible answer. Keep us posted on what you learn and please know how grateful we are for your service on this site despite all you are dealing with.

Hugs-

Julie

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sounds like it was quite a productive visit! hopefully, all this detective work will lead you to treatment that helps you to feel better.

Nina

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just wanted to second what Nina said.

good luck.

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Rachel,

Thank you so much for posting this update (and I totally owe you in the email department! Sorry!).

I know it is helpful to be getting answers...but they are such hard and difficult answers to deal with. It just breaks my heart. I want it to be a nightmare. I want it to not be true that this is happening to you. You have such a spirit of peace in adversity and I admire that so much, but gosh, this is hard, hard stuff.

I am so sorry you are going through this.

I'm really not too good with words right now as I can barely see straight I'm so out of it, but I saw your post and wanted to at least check in b/c I haven't checked in with you in such a long while.

Please keep us posted on what you find out. I do hope that they will find something that can at least slow the progression and give you some better quality of life. It sounds like the doctor was really good (which is always a bonus in such situations) and that you are getting the medical attention you deserve. I have to admit that I am absolutely amazed at what they can do medically to test for this.

You are always in my thoughts...

Hugs to you,

Emily

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Rachel,

Thanks for sharing about your visit with Dr. Cohen. He sounds extremely smart and ready to help figure things out. I'm sure this is a difficult time of waiting and processing and wondering.

Thanks again for sharing and we look forward to your updates,

We're so glad you are a part of this forum!!

Lisa

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Thank you, friends, for the support and kind words.

I will keep you updated as the test results come back.

Rachel

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Rachel I am glad that they are getting to the bottom of some things for you:). I am thinking of you as your test results return.

~bee

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