Comments on: Finally it’s firm!!!

By: Denholm

Denholm — Fri, 10 May 2013 07:32:23 +0000

Greetings.
I am 16 years old, and I was born with an extremely rare myopathy called Cylindrical Spiral Myopathy with tubular aggregates.

Please contact me!

By: Craig

Craig — Wed, 24 Nov 2010 18:47:55 +0000

You are not alone. We may have a rare disorder but together we could probably move a mole hill. Meet others and learn more on our website if you haven’t already found us. https://www.tamopathy.mysite.com.

By: Tom

Tom — Sat, 30 Oct 2010 04:58:48 +0000

https://7×7.us/UIe

Late onset, slow progression…
I’m hoping you enjoy high function and that it’s autosomal recessive or x-linked recessive. Feel well!

By: Mathew

Mathew — Fri, 29 Oct 2010 22:56:22 +0000

Congrats man! Knowing, at least for me, is much better than not. I’m not a stranger to your issues and it’s been a while since visited your blog so to “pop over” and see this news is awesome. Here’s to the future!

By: Jilary

Jilary — Thu, 28 Oct 2010 01:14:11 +0000

Have you checked out the pubmed website? They have 149 free text articles that contain “tubular aggregate myopathy”. It’s always a good starting point for medical questions.

Also, as far as the genetics are concerned, neither of your parents have this disorder, right? So it is likely a recessive disorder in your case (unless you developed some new mutation, which is possible but unlikely). As it appears to be a rare disorder, unless Rachel is your sister or cousin that you never knew about, Ari’s chances of developing this disorder are likely quite low. Though it is something she should consider if/when she chooses to have children.

BTW – I’m personally thrilled to hear this is a non-fatal disorder!

By: Nygaard

Nygaard — Tue, 26 Oct 2010 20:48:38 +0000

Congratulations Shannon.
Not knowing whats wrong and how bad the situation actually is, is far worse than knowing what you will have to fight. Even if you have to face an illness that you probably will have to deal with for the rest of your life.

I speak from experience and I sincerely mean it. Congratulations.

By: Greg

Greg — Tue, 26 Oct 2010 15:47:05 +0000

Cool, well stick me down for a pre-order. (:

By: Kiarelle & Gregorio

Kiarelle & Gregorio — Tue, 26 Oct 2010 03:37:38 +0000

Glad to hear you finally have a diagnosis! If anyone can beat back the disease you can. All the best, Kia & Greg

By: Shannon

Shannon — Mon, 25 Oct 2010 18:23:07 +0000

My autobiography is actually mostly written, and has been for some time… I just need to get an editor and then start filling in the blanks.

By: Greg

Greg — Mon, 25 Oct 2010 17:59:52 +0000

Typing in the above info made me realise how gross your animation to the right is! Best wishes with everything, besides it’d be a fucking waste if you pissed off with out polishing of an autobiography of sorts. Your such an interesting bloke, it’d be lovely to read a bit more (I’m working my way through the blog from the start atm, after reading day to day for the last couple of years). Well if you ever pop over to Ol’ Blighty I’ll stand you a drink eh? Take care Shannon, Greg

By: LB

LB — Mon, 25 Oct 2010 06:51:29 +0000

Glad to hear that you have a clear diagnosis at last. It’s easier to fight something when it has a name.

By: Twwly

Twwly — Mon, 25 Oct 2010 03:23:01 +0000

Hammerhead – Half a joke, I mean, I need to make this clear, though I have hit Google since, we were just making a flip suggestion thinking “MAKE HIM BIG AND STRONG!”

Nothing in ANY way meant as a medical or scientific opinion. Just the opinion of his two hick friends in Bruce County, who are pretty sure a little roids and opiates never hurt anyone.

(JOKING!!!! Or am I…)

By: dresden

dresden — Sun, 24 Oct 2010 22:28:57 +0000

Well, I’m glad your enemy has a name now. And at least you know it won’t kill you so you’ll get to see Nefarious grow up.

By: Alastair

Alastair — Sun, 24 Oct 2010 21:28:36 +0000

Glad you’ve found out what you’re fighting. Good luck in the future.

By: Andrew

Andrew — Sun, 24 Oct 2010 19:39:03 +0000

Congratulations. I hope things are much better for you from here on in.

By: Ania

Ania — Sun, 24 Oct 2010 18:55:36 +0000

Congratulations! hopefully it’s the first step to make things better!

By: starbadger

starbadger — Sun, 24 Oct 2010 17:18:43 +0000

@Hammerhead – thank you for being here – except that you are not dealing with all the data and at a distance – even if you are a professional in the field which you may or may not be
@Elizabeth – thank you for posting and making public a case you know (Chris) that turned out better than the best science – refering to my own case of being promised by the Drs. I’d be dead in a few years after cancer surgery and here i am 17 years later aborning not a dying.
@shannon – closure is good and trusting they’ve got you right you’ve got more years to live than i do – of course you are going to do what feels right in your now – and right now i’d like to remind you that you need not spend a moment of your time worrying about the genetic question – her inheritance is as likely as seems the case with your brother – one of the strongest never used steroids humans.
=================================

By: hammerhead

hammerhead — Sun, 24 Oct 2010 16:45:54 +0000

@Elizabeth, the condition described by Shannon is linked to myasthenia only by the factm that it is related to nerves and muscles. Myasthenia is a disease of neuro-muscular joint, myopathies are diseases of the muscle itself.
@Starbadger: Yes, the forest is huge and full of various trees, indeed. And even board certified neurologists who are not muscle-and-nerve specialists, may have huge problems distingushing larch from pine tree.

By: Elizabeth

Elizabeth — Sun, 24 Oct 2010 16:38:13 +0000

In 2001 my husband had fertilizer dust blow into his eyes, a few days later he was not able to look to the left, went to a eye doctor. Among other symptoms, he had glaucoma at 32. The doctor referred him to a specialist at the UAB hospital in Birmingham who diagnosed him as having occular myasthenia gravis. He was put on mestanin after he started noticing reduced mobility in his left shoulder indicating that it was turning into full blown myasthenia gravis. After several weeks on mestanin he was pouring blood rectally, sent to another specialist for the round of cameras, etc then to a neurologist, a Japanese man who advised Chris that the steroids would kill him in less than a decade, his kidneys would fail even if his bowels were holding up and that off the record completely, were it him he’d move to where there was medical marijuana.
Chris followed the advice of the latest specialist, especially since he had not enjoyed the previous years of not smoking and by the next appointment at the eye doctor the glaucoma was simply gone. I witnessed the eye doctor tell Chris in regards to the glaucoma (the lack of pressure) that whatever he was doing, he needed to keep doing it. With emphasis on whatever.
Slowly, over thenext 18 months his other symptoms also alleviated and while technically he is in remission it is such that we have forgotten about it.

Other than the persistant skin disorder on his feet that is reputed to have been caused by the MRI ink all those years ago.
Fun. Anyway, sorry I didnt tell our story earlier but I only just now learned that your condition is linked with myasthenia gravis.
God speed!

By: starbadger

starbadger — Sun, 24 Oct 2010 15:32:17 +0000

https://neuromuscular.wustl.edu/index.html

lots of trees in that forest