Of Retarded Mice and Men
This post is different. This blows my mind, does involve Pearlsky a touch indirectly though. But it’s really cool. So, if you want, keep reading, hit the “Read more” button …
About twelve years ago my mother started having trouble with her feet. First numbness and tingling, then pain and it progressed over the first year or two. She saw several doctors and finally was told to try to get an appointment with “the guy who wrote the book” on peripheral neuropathy. I know this is true because I looked him up, and really, he did write the textbook. World renown. So mom calls for an appointment expecting to wait a year or whatever. She sends her records and the guy wants to see her “next Wednesday.” She figured she was dying. No, he was intrigued.
Peripheral neuropathy, a result of nerve damage, often causes numbness and pain in your hands and feet. People typically describe the pain of peripheral neuropathy as tingling or burning …
Peripheral neuropathy can result from problems such as traumatic injuries, infections, metabolic problems and exposure to toxins. One of the most common causes is diabetes.
Not mentioned in that quote from the Mayo Clinic is that PM can also have bouts of “breakthrough” pain. Sudden, potentially very intense pain that can last just a second or two, or minutes.
That doctor personally saw mom for ten years until he died, never having an associate see her. He wanted to know why mom had peripheral neuropathy and no diabetes, etc. He never figured it out. Mom has tried many drugs, none did all that much, there was some relief, but also side effects. She has learned to live with it.
About a year and a half ago I started to have tingling in my feet. Then numbness. Then other symptoms that made the whole thing very confusing. I saw several doctors to no avail. Then came the pain. Breakthrough pain.
Biopsies showed that I did have peripheral neuropathy, but other symptoms were confusing. No one had a clue.
About eight months ago I was hanging out with Pearlsky and started to tickle her a little bit. Just then I had a bout of the breakthrough pain. And it hit me … a “breakthrough” if you will.
(Now is a good time, if you want, to go re-read my “diagnosis” post on Pearlsky)
If you remember (you do study and memorize every post, right?) when Pearlsky was born she had a high threshold of pain and was not ticklish. Hmmm, why not? Must have been something with her peripheral nerves. Peripheral nerves. PERIPHERAL NERVES!!!!!
I search the internet, nothing on peripheral nerves and the amino acid that Pearlsky and David lack. They lack it because the gene that encodes the enzyme is messed up. I am a carrier of the faulty gene as is their mother. Nothing on the internet. Damn.
I have had all my baseline tests … biopsy, EMG, etc. I go see my internist. I go see a neurologist who specializes in peripheral neuropathy. I see a metabolist who specializes in diabetes (which I do not have) and also deals with peripheral neuropathy. Turns out two of them studied under Dr. He-Wrote-The-Book. I ask all three the same question, “Will I die if I take the amino acid that Pearlsky and David lack?” And all three say basically the same thing, “You shouldn’t. But I doubt it will do anything.”
No one knows, never been studied before.
I pull a dosage out of my butt (about half of what I give Pearlsky per body weight) and around last Thanksgiving I start taking the AA everyday. I dissolve it in a 16 oz bottle of water, add some flavoring, and drink it throughout the day.
I woke up the next day. And the next. The only difference I notice is that for some reason I am urinating more, which is scary since amino acids, protein, kidneys, urine, all work together somehow. But I keep taking it. And you know what? After two weeks I notice the breakthrough pain has stopped. Totally.
A month goes by, NO BREAKTHROUGH PAIN! Still numbness and tingling. Then, I get sick. Some respiratory thing, and out of complete paranoia, I stop taking the AA. A few days later … pain. Two weeks later, I go back on the AA, pain goes away again.
I sent Mom a kilo of the AA, and after talking to several of her doctors, all of them saying “Why not, go for it!” she starts on AA.
After twelve years, her pain is as well controlled, if not better, than on any of the meds the doctors have tried. But she is off the meds.
I have told my three doctors about this, there is some excitement and a bit of a wait-and-see attitude, and still nothing on the internet about such a treatment.
Until yesterday.
Yesterday I find an announcement for a clinical trial … “AA Supplemental Treatment for Peripheral Neuropathy.” The study has not yet started recruiting participants and is being run out of a hospital that is all of five miles from me. Holy shit.
I call and leave a voice mail late yesterday afternoon. Just a teaser. “If you are interested in knowing the results of your yet-to-be-done clinical trial, give me a call.” Yes, I said it much nicer, yes I gave some tantalizing information. And yes, they called back by eight in the morning today.
The lead investigator wants to see us right away, they were asking how I came up with the dosing (ummm … pulled it out of my ass?), tests we have had, and so much more. I told them there is no way I am entering the trial itself because I’ll be damned if I am going to take a placebo! I don’t want that pain ever again.
Pearlsky and I will be seeing the lead investigator, a big time neurologist, and I think the information exchange will go both ways. I did note that the dosing proposed for the trial is about twice what Mom and I are taking, so starting tomorrow I will increase my dose and see what happens. I shouldn’t die.
Then my favorite part came at the end of the conversation with the research assistant (fellow? co-researcher? she was wonderful).
I told her that my children specifically have a mutation in the gene encoding of 3-XYZ. She told me that they developed a mouse model for it!
Yes! There are little retard mice in their lab, mice that are just like Pearlsky and David! Mice that are just like me. (I am a carrier, as is my ex, hence we don’t have the full issues).
“Guys like us got nothing to look ahead to” ~George to Lennie (Of Mice and Men)
Of retarded mice and men.
I have that..send me some!
You’re a genius.
Incredible. Something does not surprise me about the laymen’s ability to cure the world (or parts of it, at least). Particularly when the pharmaceutical companies haven’t yet found a way to make a billion dollars off the solution. Hopefully your treatment (I do hope they name it after you) becomes wide(r)spread!
That’s wild.
Although I winced at your dated use of the word “retarded” — you knew some of us would, though, right?
The original title was “Of severely disabled, epileptic, globally delayed, non-mobile, non-verbal, amino acid deficient Mice and Men” but I thought that sounded a bit retarded …
:p
Amazing what a dedicated and curious parent can come up with. Congratulations. We’ve had much the same type of ‘reverse breakthroughs’ with Prader-Willi Syndrome. Parents researching, trying new things… telling others about it for years, until enough anecdotal evidence piles up that things go for a trial run on a research project. Olivia is in two such projects. And just this year, the PWS researchers acknowledged what one parent has been saying all along… that this is a metabolic syndrome and should be researched as such. Amazingly, we just got our own mouse model in the last year or two as well. We also have a plan and the parents are raising funding for more research. I’m excited to hear about this PM information. My father and uncle have it as well. Do you think you would ever share specifics?
It’s good to know that you probably won’t die.
What is it? I also have idiopathic PN.
If you honestly have a need for knowing more specifics, contact me directly … here.
That is fascinating! I feel a breakthrough coming on!
Um, stunned and speechless….
Wow! That is quite something. Especially if it ends up helping loads of other people with the same condition, imagine how amazing that would be?!
Have you read “The Girl Who Turned to Bone”, in the June issue of The Atlantic? It discusses how insights gained from treating rare diseases can help treat more common disorders. When I read it yesterday, it reminded me of this post.
http://www.theatlantic.com/magazine/archive/2013/06/the-mystery-of-the-second-skeleton/309305/
People who have been given some types of chemotherapy for cancer report peripheral neuropathy as a lasting after effect of the treatment. Many are told to “live with it” and be glad they survived the cancer. Will these people be included in the study? I hope they benefit!
Very cool! We are involved in a genetic study at Duke that is doing much the same thing . . . trying to make a mouse that mimics Claire’s genetic mutation. So far, two years in they still haven’t had any luck. But we did get an invitation to a “family forum” of sorts that Duke is hosting in July for program participants.
On a side note, I bet it’s a real bitch to make tiny little afos for the Parlsky and David mice. ; )