Just An Update

[Rachel]

Hello DINET friends,

I am in the process of turning another stone over (the last stone?) as I continue with doctors visits and tests. I had thought I was to the end of the road, but there is one more thing to check into?

I recently went to see Dr. Grubb. He was very nice, compassionate, and knowledgeable. The visit went well. It was nice to go to a doctor who knows so much about dysautonomia. As I was telling him about my medical history it was so neat because he "got it." Plus, he started to put pieces together that no doctor has before. He was able to see the whole picture, and not just POTS plus a few other random symptoms.

Based on my medical history, early onset, symptoms, severity of symptoms, progression, and lack of response to treatment, Dr. Grubb thinks that I have a mitochondrial disease. There isn?t much that can be done for mitochondrial diseases, and treatment usually just slows progression. There are still a lot of unknowns in this area of medicine. It is even more confusing than dysautonomia! I'll be going to a specialist in a couple of months for evaluation, blood work, and possible muscle biopsy for mito. Knowing for sure if I have it may not help much in the area of treatment, but it would be nice just to know if I have mito.

Dr. Grubb confirmed that I have hypermobility. I'm now officially diagnosed with it, which is good. I've been told over the years by physical therapists and doctors that I?m too flexible, etc. Even before POTS ever flared up for the first time I had problems with hypermobility. Physical therapists told me that I was too flexible and that that was the reason my ligaments were tearing. Hypermobility was described as my problem, but never named, which makes it difficult to go to a new doctor and have to say, ?Well, I'm pretty sure I have this. It has been described in me, but I've never been diagnosed.? Now it?s easy. I can say, ?I have this, and it is in my medical records.?

There isn't much more that can be done for me as far as dysautonomia treatments go. Dr. Grubb said there are only two meds left for me to try. We're currently giving Mestinon a try (for the second time). After that the only med left is Procrit. That med is very expensive, though, so I?m not sure if my insurance will cover it. We'll first see how the Mestinon goes this time around.

I'll be seeing a specialist in a couple of months about the mitochondrial disease. If anyone here has been through the process of testing for mito, I would appreciate any info or advice you can share.

So that?s what?s up with me. Thanks for taking the time to ?listen."

Rachel

[Mrs. Burschman]

Hey Rachel,

I'm glad that you're getting some more information. No one ever wants to find out they have something new, but you're coping with it everyday, you might as well know what "it" is!

We're all here for you! Keep us informed.

Amy

[ajw4790]

Rachel,

It must be a relief to finally have more answers (or close to) the questions that have always been there! I only wish that it was not as nerve racking! It must be bitter sweet to finally get an answer, but now to have even more to deal with! I hope the answers help with treatment, and something can be found to help you as much as possible!

I wish you the best of luck!

[cardiactec]

hey rachel, so glad that the trip to blair grubb went well and that you got some answers!! i hope you start feeling better!

[morgan617]

Rachel, even if there aren't any real treatments, just the validation must be a relief. It's sad when we are relieved something is wrong, but that is the way it goes with us.

Hoping they find something that, at least, helps. I'm glad you had a good visit with Dr. Grubb. morgan

[persephone]

Hey Rachel,

Procrit was a last chance for me, too- but it got me out of a wheelchair and cartwheeling about the corridors of the hospital. It *is* expensive, but it works very well in folk like us who don't respond to other drugs and treatments. Good luck!

[roxie]

Rachel, I hope that these new leads will create some postitive results for you.

my prayers and thoughts will be with you over the next few months

madeline

[lalalisa]

Rachel,

Thanks for the update. I'm glad that you were able to see Dr. Grubb and that he was able to help sort things out. I'm sure this possible new diagnosis must feel overwhelming. I will be praying for you!

Love,

Lisa

[Rachel]

Thank you all for you caring words.

I received my medical records from the visit today. For the diagnosis, Dr. Grubb stated in my records, "severe postural tachycardia syndrome, actually almost crossing into an autonomic failure syndrome." It was hard to read those words, but yet it was nice to have the validation. I know things have been getting worse; I have more symptoms presenting themselves, and symptoms growing in severity. I've been telling doctors that this isn't the same POTS I had when I was a teenager. And apparently Dr. Grubb agrees.

He also thinks I'm having some petit mal type activity, which would explain the cognitive difficulties I have at times when I just can't think, nothing makes sense, and I can't make any decision.

Life is hard, but I will press on. I'm so thankful for my husband, son, and my family who help me daily.

Take care my friends,

Rachel