A Little Like Hope

There are patterns that shape you.  Experiences that make you who you are.

Being sick for the last six years has fundamentally shifted my expectations of life. After all this time, I’ve been in a pattern of expecting things to get worse. I expect things to be hard. I expect side-swipes and surprises and I expect to find ways to cope with all that. But I never expect things to get better. Being optimistic about my health is something I have avoided for so long. All the science, all the ways of being that my body has trained me to accept.  All of these things have shaped my thinking. Being positive about the future of my illness always felt like a redundant pastime. A fruitless and futile exercise in wishful thinking.

So instead I have been resolute. I have tackled my illness like a maze. I have tried to be systematic in my research; I have sought the counsel of wiser science brains than my own. I have searched and pushed and applied myself to finding solutions. And that has been a wonderful focus for my mental energies. It’s less of a dare to the universe than positive thinking or pollyanna prayers. It has seemed logical and appropriate.  Define the problem, seek a solution.

And despite my beliefs that only a logical solution could fix my problem, just recently, the problem has been evaporating. Like the puddles leftover from our long, wet winter. The sun is beating down and shrinking the periphery. Rendering hard clay from the mud and quagmire. Setting my feet on solid ground. I’m feeling well. I’m exercising. Last Thursday I did pilates and followed it up with a walk in the country with my girls, Bee and Lulu.  I walked along the road and back again!  If you have been following this blog, you will know how extraordinary that really is. Where before even one of those activities would have put me back in bed for a few days, I have backed it up with more activity.

I walked! With my girls Bee and Lulu. There,

This weekend I’m in town with my hubster.  The last time we did this was a year ago. And it was so very different. I have no cane. Instead of sitting at the table, wondering if I can stay upright in the seat for the duration of dinner, I sat comfortably and talked with him there for three hours!  We enjoyed a six course degustation menu and a conversation that spanned worlds and made us laugh like we used to. We celebrated. Ten years of marriage. Parenthood. And something we’ve been a bit worried about celebrating. We celebrated my wellness. We’ve been so afraid that to acknowledge how well I am doing would tempt fate. So we haven’t. But last night we talked about it. We exhaled. We let ourselves enjoy this beautiful, fragile thing.

Want to know what feeling well is like?

It feels a little like hope.

I walked! With my girls Bee and Lulu. There,(1)

Making Music out of DNA

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I’ve been sequenced, my DNA sample was sent in a slick little kit to the States; they sent me back the raw data and I sent that off to Stanford to be reported on.  I’m in the early hours of studying the reports that have just come back.

Apparently I have increased genetic odds for empathy,intelligence and good sprinting muscles.  Who knew?! Running isn’t exactly my forte! I descend from Northern Europeans and I am 2.6% neanderthal.  Genetically.  Not behaviourally…I hope.

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Those were the good bits.

The other bits I am not so sure I really want to look at again.  I’ve scrolled through a myriad of red-bordered “bad” SNPs and the sheer amount of further research I am going to need to do is a bit overwhelming.  There were some things that were no surprise.

I am genetically more likely to have autism, substance abuse issues (Ah-ha! Does cake count as a substance?), skin cancer and ankylosing spondylitis. I have mutations on three of the MTHFR genes.  (Yes, you are not the only one who thinks that sounds like swear-speak!)  My autonimmunity genes repeatedly show up on the ‘bad’ list, but on the plus side, I have a normal population risk for some of the big nasties.  There are more results to look at, more research to do.  I have many more questions than when I started out, but isn’t that what information does for you?

Reminds me of that schoolyard rhyme…
The more you read
the more you learn
the more you learn
the more you know
the more you know
the more you grow
and so it goes…

I am lucky, to be me, in this country, with a free health care system and a carefully regulated medical insurance industry.  I am in a very privileged position as far as my genetic information is concerned, it’s not going to affect the health care I receive in our current political climate.  Recently, the FDA put a stop to genetic profiling reports for medical purposes from the company 23&Me. I assume this is because the implications for people in the USA with regards to insurance and health care provision were too complex. And our genetic information should be handled with care.  We should have control of it. There are ethics and questions to be considered.

I was less concerned about whether or not this information might compromise my insurance picture down the track than some might be.  In this country, and because I was late to the private health insurance party, I have been declared uninsurable.  Yet I am still cared for in our hospital system and my medications are all subsidised.  In Australia, insurance companies are required to cover anyone, after a stand down, even with pre-existing conditions, so I guess Australians don’t need to worry too much either.  Is that true, my cross-the-ditch-cousins?

I feel quite excited about what the science of genetics can already tell us.  It gives me enormous hope for the future of medical research.  It puts me in mind of the medical scanning machines aboard star trek enterprise and I long for the day when patients can be assessed by a comprehensive diagnostic process, 100% accuracy, questions answered, measures taken. 
Do you think that day will come?

It’s not the first time my genes have been tested.  When my Mum found out she had ovarian cancer, she agreed to have her DNA tested for a mutation. They had just discovered that some familial ovarian and breast cancers showed up a mutation on the BRCA-1 and BRCA-2 genes.  My Mum had the BRCA-1 mutation.  There was a 50/50 chance that Mum’s kids would carry the mutation too, so my sister and I were tested. My brothers were recommended to be tested too, but testing has to be a choice for the individual.  In males the mutation is responsible for prostate cancer.

The mutation runs strong in my Mum’s line and we were so nervous.  I can thank my Dad for his genes; I don’t have the mutation.  My sister, too.  But many of my cousins were not so lucky.  There is only one lucky thing about that, we have the technology to test our genes.  Many of my cousins have taken the option to proactively fight the cancer by having preventative surgeries.  It doesn’t eliminate the possibility that they will go on to develop breast, ovarian, or prostate cancer, but it greatly reduces the odds.  What a gift from science to our family at large.  Advance warning, a heads-up.

I am in awe of the science achievements being made all the time.  Clever things well beyond the ability of my brain to comprehend or analyse.  But we don’t have to understand it all to benefit from the advances.  We, and our children, and our children’s children get to enjoy the labours of the lab technicians. And one day, there will be an answer to strange things like Dysautonomia.  It won’t be a mystery anymore, it will be as easy to understand as any other malady.

And people like me, like you, might even get better.

This piece of music is a composition made by my genetic testing company 23&Me.  It is composed based on my genes.  Ha!  The Sound of my Sequence!  Right, time to go and answer some questions: I’m going to go find out about that MTHFR!?

Dysautonomia or Something Else?

Something new is growing in my mind garden.
It’s just a little shoot, but every time I look at it, it’s bigger, greener and more vigorous.  It makes me want to shout with happiness!


I’ve been growing some hope.

I’m not sure if it was a bad idea to plant this seed or not.  I am nervous about sharing. I’ve been a bit mind boggled by all the science and my arts brain is struggling to take it all in.  But here is the story.  It’s got a lot to do with blogging, doctors who never really retire (!) and the fact that sharing and connecting via social media is really incredibly powerful.

I know there will be some of you in the Dysautonomia community for whom this information might be significant.  You’ll find further information at the bottom of this page.


In May, I started this blog.  I started it because I wanted to yell my story out into the world.  I wanted a platform.  And a big megaphone.  Somewhere I could shout out loud:

“This is crazy!  This weird thing is happening to me but people can’t see it, they don’t know… and I am not coping, it’s getting worse all the time,  my doctors aren’t helping me, and I am afraid… and I need someone, somewhere to hear my voice!  Are you like me, too?  Can you hear me?”  

And you did.  The relief of knowing you care is bigger than I can express.  I can’t fully comprehend the strangeness of knowing I have had 70,000 page views, from people even as far away as Latvia… and I am so glad each and every one of you are here!  New Zealand is such a small country in a big world; we’re so far from everywhere.  But not when we connect on the internet.

It’s a small world after all.

I am particularly glad for two recent happenings.  The first was that my lovely friend Caroline from Wellington (who also has Dysautonomia)  suggested I submit some of my writing to Stuff’s Online series on ‘Invisible Illness’.  I did and they published it, here. That article was read by a retired Swedish doctor living in Christchurch.  She linked to my blog from there.  She looked over my medical history and saw some things she recognised.  And then she took the time to email me.  These important words were the crux of that letter:

“…your description of your Dysautonomia, your long QT, your hyper mobile joints, your gastric dysmotility and muscular weakness just makes me wonder if another aetiology has been considered…”


She went on to explain that she herself is diagnosed with a rare condition that could possibly explain a lot of what was going on with me. She suggested I make some enquiries.  That led me to seek the help of an endocrinologist.  He mentioned the word channelopathy before I did.  And so we have begun the process of looking in to this as a possibility.  Channelopathies fall under the umbrella of Muscular Dystrophy. There are a few variations of these ‘periodic paralyses’ associated with mutations in calcium, sodium, or potassium channels, causing muscle dysfunction. Skeletal, cardiac, smooth, gastrointestinal, respiratory, facial and/or eye muscles can weaken or stop working periodically.  I can’t help but think, if I am one of these patients, it would explain my problems with my heart, my digestive tract, my bladder, my bowel, my eyes and the intermittent problems I have with my gait and leg weakness. Wouldn’t that be something?  A completely different tangent to consider!

Patients can have blood results within the normal range (as I do) and still have problems with these ion channels.  It is notoriously hard to pick up in routine tests and is best investigated by genetic screening.  This test is available in Australia.  Not all genetic mutations responsible for channelopathies have been identified, but many have (80%).  Treatment for patients with these channelopathies seems a lot more effective than the regime I am currently on for my Dysautonomia symptoms.  People with channelopathies need to dramatically amend their diet, depending on their sub-type, and take a range of medications to manage their condition. But what I have read so far suggests that it is a condition that responds to treatment.

Could it be that I don’t even have Dysautonomia?  Could this other rare condition really explain why so many aspects of my autonomic nervous system struggle to work properly?

Could my story have a happier ending than the one I currently face?

I am keen to find out.  And I am not stopping until I know for sure.  I might be barking up the wrong tree altogether.  Or barking mad.  I might have planted that seedling in the wrong place and in the wrong season.  But it is a beautiful thing to be watching my hope grow for a change.  I’ve decided that even if my hopes are dashed, it’s good to have them when I can.  Hope is powerful medicine for my wellbeing.  And I might just be growing myself a TREE!

I see my endocrinologist again in two weeks time.  So until then, I am watering my seedling and holding out for some sunshine.  Wish me luck!

Have your doctors ever considered this aetiology for you?
 Have you ever heard of muscle channelopathies before?
 Do you want to know more?
Look here first:
 Periodic Paralysis International
Then here:
 Periodic Paralysis caused by diet or exercise?
And here is the only blog I could find that wrote about correlating symptoms, if your curiosity is piqued:

I’d love to know your thoughts!