Thursday's Conclusions

Thursday, January 04, 2007

I forgot to add into yesterday’s blog entry that I had emailed my primary Doc, my 2 neurologists and my nephrologist regarding our current status of “nothing” at this moment. I did get replies from each of them, though they were not in any helpful accord. Let’s see…
...More or less, my emails contained the following:
I saw the second opinion Dr. who ultimately did not agree with the diagnosis, yet has NO particular idea as to what I might be dealing with. A “I don’t know what you are dealing with at all, but I am not convinced it is HKPP.” Kind of situation
He asserted that HKPP is usually mis-diagnosed which I find very strange. How such a rare condition would be a common mis-diagnosis.
I feel we have gone backwards in my care and treatment.
Without a confirming second opinion I cannot be referred to the clinical trial at UCSFQuestion; Has the secondary neurologist been contacted regarding my future care and treatment?Lastly, I feel that the genetic testing that I underwent has been used against the possible confirmation of my diagnosis. (I was tested for one of the three “known” strains of HKPP mutations but my mutation was not identified)From my own research, I have learned that the genetic testing I had done checks for three calcium channel mutations, (R528H, R1239H and R1239G) while 14 mutations (in calcium, sodium and potassium channels) have been identified so far. Please reply at your earliest.
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The following are not specifically quotes from the email exchanges but are include collections from the main focuses in the emails as well as some direct communications.

The following was taken from the reply from my Primary Neurologist:
The second opinion Dr. let me know that he did not think HKPP was the diagnosis and that Hyperaldosteronism may be the cause of the symptoms. He has more experience in neuromuscular disease and handles Kaiser’s difficult cases.
At this stage I have to agree that Hyperaldosteronism is a possible diagnosis.
It is also the only treatable diagnosis.
I suggest that you discuss with the Nephrologist and go ahead with testing for it once and for all. HKPP is a rare diagnosis with no treatment that is proven to help no matter whom you see and what trial you participate.

The following was taken from the reply from my Secondary Neurologist:
The study at UCSF hasn't been formally approved yet. If approved, it will be for comparing the typically used drug Diamox compared to a new medication in patients with Hypokalemic periodic paralysis. If you wind up diagnosed with Hypokalemic Periodic Paralysis, then you might be a candidate for the study or for just taking Diamox without the study. I spoke with your Nephrologist and the data favors the Hyperaldosteronism. You are being referred to the genetics department about possible genetic causes of Hyperaldosteronism.

And finally the following was taken from the reply from my Nephrologist:
Hope you had a Merry Christmas and a Happy New Year.The second opinion Dr. suggested the possibility of investigating hereditary forms of Hyperaldosteronism (the hormone disorder I suspect you have), however, it is very unlikely you have these, as you have responded so well to the Spironolactone. As for HKPP, what further testing could be done? I don’t know. This is not my area of specialty. I would have to refer you to the neurologists/geneticists. I know there are several more mutations identified, but clinical testing may not be available for them.
Your questions aside, how are you doing?
Have you been able to work at all?
How is your blood pressure?
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After all the email activity, I feel like I’m back at the beginning again with my primary Neurologist questioning his gut and researched diagnosis due to the similarities between Hyperaldosteronism and HKPP and the unfamiliarity of Kaiser’s Neurology Department with actual HKPP cases. I now understand clearly the frustrations of most of the folks on the HKPP list who are also battling, it seems, their own care givers who need some kind of “exact proof” in order to declare a lasting diagnosis.
Do I have Hyperaldosteronism? Yes, I believe I do as does a medical specialist in the field of Nephrology due to my positive reaction to a medication specifically for that condition.
Do I have HKPP? I believe so; due to my medical history, my unanswered questions of strange paralytic attacks throughout my youth and twenties and due to my positive reaction to the ingesting of potassium after this year’s attacks. Is it incredibly unlikely to have both conditions? Yes.
Is it impossible? No.
Are there any other reasonable answers as to my muscle deteriority? To my ongoing fatigue? To my daily muscle pains and spasms? Without the consideration of HKPP, no there aren’t any.

Lastly, note that the Nephrologist was the only one of the three to actually ask how I am and how I’m doing. We like him the most, even though he’s the most skeptical one of the bunch. He’s been skeptical from the beginning but his skepticism has not interfered in ANY way with his care and concern for me and that has not gone unnoticed. Both CC and I have shared our appreciation of his care with him, to his natural discomfort.

Yesterday, I put together a list of topics and titles for a Media Technologies resource that I’m looking into forming and creating. Tonight it came more into view than ever before and I’m quite intrigued to investigate it more and more. I’ll share more on that front once I have more of a handle on it. I was up until 2 AM working on it and I’m feeling the wear and tear from that decision, even now; it’s 11:14 PM.

Stress levels have been pretty high today with fragile emotions on all sides, actually. No one wins. No one. In fact, it pretty much is a “Everyone loses” kind of reality, actually. Short tempers, unrealized expectations, feeling overwhelmed, scared for paying the mortgage, for paying our “normal bills”. The clock continues to click with more pleading and begging laying before me again. Anxiousness is a given.

Those who pray, please do for our “well being” due this month in a variety of forms.
Please also be praying for my very good friend and spiritual mentor in many respects, Karl, who lives in Orange County and suffers from horrible kidney stones and chronic pain. He is also facing a vocation change and needs God’s provision on all fronts. He’s an amazing and Godly man and I’m blessed to call him friend.

Hhmmmm...Just a thought…perhaps a Prayer Blog could be constructed on this site and those who pray could check in with that blog as well and I would include people’s requests and when possible, His answers to those prayers as well. His answers could be in a different color font…? Shoot me an email if you are in favor of this idea and we can go from there. The requests would be anonymous or identified as you would choose, with only me knowing one from another as the one inputting the prayer requests. Let me know what you think.

peace-