What Am I Thankful For? A diagnosis of congenital amusia

In November of 2008 I wrote: "we’ve arrived at the time of the year when it’s traditional to speak of things for which we’re thankful, I figured I would put it like this: I am thankful for a diagnosis, even though that diagnosis is hemochromatosis." Now I'm back with thanks for another diagnosis, one that thankfully does not involve physical pain and suffering, although it has had quite an impact on my life.

The difference a name makes

It was my partner, Chey Cobb, who received that diagnosis of hemochromatosis. The thankfulness we felt at getting this diagnosis came from having a name for the constellation of symptoms that had forced her to quit working and turned her daily life into a daily struggle (one that, sadly, has continued to this day). We were both surprised by what a difference it makes to have a name for the suffering you've been going through.

As inveterate researchers, we saw Chey's diagnosis as a starting point for exploring treatment options, finding support groups, and lobbying policy-makers. I started a Facebook page and website to raise awareness of hemochromatosis, which is widely under-diagnosed and not well understood by many doctors. We personally validated a CDC study that found the average time to get one's hemochromatosis correctly diagnosed was nine years, enough time for the condition to cause irreversible damage to joints, liver, heart, brain, kidneys, and other organs.

Sadly, we saw a replay of this diagnosis phenomenon three years ago when doctors confirmed our daughter's suspicions that she had Multiple Sclerosis (MS). The day she got that confirmation she called us in state akin to elation, tinged with validation, even though she knew all too well that the road ahead was going to be a very tough one. But we understood how much it meant to have a name for what you've got.

Now hear this

When you get a medical diagnosis, particularly one that's taken many years to obtain, there are two phrases that are likely to come to mind right away: "that explains a lot" and "I knew I wasn't imagining things." (The latter is likely to be familiar to female readers - numerous studies show that the tradition of doctors telling women their symptoms are "all in your head" is still a thing.)

The diagnosis that I am thankful for today "ticks all the boxes" as they say in England: it explains a lot, and it validates a whole bunch of thoughts and feelings I've had since December, 1959. That's when, during rehearsals for the school Christmas concert, I first learned of the problem for which I now have a diagnosis: congenital amusia.

Technically, "a deficit in fine-grained pitch discrimination," what I have is sometimes called "tin ear." Indeed, what the teacher said to seven year-old me was: "Stephen Cobb, stop singing, you have a tin ear." What Mrs. Ashby did not know, and I have only just learned, is that I was born that way. In other words, congenital amusia means that I have always been, from birth, somewhat tone deaf.

(I don't want to go into detail about the congenital amusia in this article - I put together the 4amusia website for more information - but studies show that 4% of people have this disorder. My particular form of amusia is not severe, it doesn't mean I don't enjoy music, and I don't lack a sense of rhythm; but, regardless of how hard I try, I can't sing or learn a musical instrument - my brain lacks something in the pitch processing and retention department.)

What I am so thankful for today is the knowledge that my inability to carry a tune or learn a musical instrument is not due to laziness, sloth, or weakness of character - qualities of which I, and many other people with my condition, are routinely accused. I am so grateful that I can now say, with scientific certainty, that those accusations were inappropriate.

Lingering effects

I'm sure I could write a whole chapter about how much it hurt to suffer those accusations, the self-recrimination and doubt that it induced. I know I could have done without the castigation of teachers who were sure I could learn to play the recorder - a rite of passage in English schools of the 1950s and 60s - if only I would apply myself.

Then there's the chapter on how frustrating it was to grow up in the sixties with a strong poetic streak but no ability to voice the songs I composed, not to mention fruitless hours failing to learn guitar. Sure, I could pose for the album cover, but I was never going to be on the album.

But today I'd much rather give thanks for the unexpected gift of this diagnosis: the empathy it has given me for this thing called neurodiversity, the growing realization that human beings are not all wired the same way.

While I realized long ago that organizational aversion to people who are "different" is bad for organizations, and bad for "differently-abled" people who can bring great insight and real value to any mission, I have to admit that I didn't truly 'get' neurodiversity until I learned that my own brain had a wiring issue.

And as I look at what is happening today in terms of research, it strikes me that there is great potential for humans to learn more about the many different ways in which we are wired. These days a decent school is going to recognize something like dyslexia at an early age and respond appropriately. Hopefully, schools will soon be recognizing that some children don't hear pitch the same way most people do.

While I sometimes get quite emotional about this topic, let me be clear that knowing more about neurodiversity isn't just about people feeling better about themselves, it has seriously practical implications. Knowing the ways in which you are different makes you better able to be the way you are, and it sometimes happens that there are benefits to being wired differently. Society is better off as a whole if we can see that, and go with it.

*With a huge thanks to those scientists who believed people when they said "my failure to learn an instrument was not for lack of effort."

It's official! I'm making some big changes

I have retired from my corporate position and we're moving to England!

After many enjoyable years with ESET—the organization I've worked for longer than any other—I began to think it was time to change things up a little, or down a notch, depending on your perspective.

And I knew that—owing to several factors on which I will elaborate later—the change would involve a move. So we began to look at living somewhere other than San Diego.

When Chey and I went to the UK earlier this year—for my mum's 90th birthday—we arrived at the conclusion that we would like to move closer to her. We now plan to complete our relocation by early September, to a cozy place just a short walk from mum's flat in Coventry, the thousand year old city in which I was born. And when we've unpacked and the dust settles, I expect to be sitting in a comfy chair in small study with a big internet pipe, conducting independent research into the darker aspects of humans and technology.

I will probably reemerge as Stephen Cobb, Independent Researcher. Down the road it could be Stephen Cobb, Public-Interest Technologist. (And I wouldn't rule out Prof. Cobb since Coventry has two thriving universities and there are several more nearby, including my alma mater, the University of Leicester).

What? When?

Timing is not always everything, but it did play a big role in this set of changes. By the end of 2018 I had reached a point in time that is referred to in America as "full retirement age." This is when Americans can start receiving the full amount of their pension (if you were born in 1952, that age is currently 66). What I mean by "pension" is Social Security retirement benefit, but we decided to use the term pension because in England "social security" means something quite different.

As 2018 unfolded I began see this pension as a "social retainer," a way for me to finance a different approach to my life's work, a chance to labor at my own speed, in my own way. I will write more about that work in a different place, but suffice to say it involves - among other things - helping the world to "enjoy safer technology." As you may know, that phrase is how ESET - my former employer - frames its mission, and it's one reason that I worked there so long.

I realized that a pension potentially means being able to choose my own strategy - like writing a book to give substance to the points I want to make, or making those points as an independent voice, not someone employed by a corporate entity (to be clear, ESET had an admirable commitment to objective research and required me to stay "vendor-neutral" in my public speaking - but one ethical company cannot save the reputation of an industry that needs redeeming).

But why did I say: "a pension potentially means being able"? Well, the enabling power of a pension is dependent on the size of that monthly check from the government relative to the cost of living where you live. Exactly how dependent will vary based on your circumstances. All of which turns out to be quite relevant to our decision to move to Coventry in England, as I will now explain.

How much?

The "Too Long, Didn't Read" version is that the pension checks which Chey and I started to receive this year are not enough to live on in San Diego given that we don't own a home here. We are members of a fairly large group of people whose assets were wiped out by the Great Recession, so we entered this decade with no savings and no home of our own.

Since 2011, we have lived in rented property in San Diego, where the average rent is now over $2,000 a month. When we moved here we decided to live near the ESET building in Little Italy so that I could walk to work (which costs a lot less than driving, with way less stress). You pay a premium for this location but sadly, Little Italy has become less of a community in recent years, and more of an entertainment district. We have felt it grow less livable even as it has become less affordable, providing additional incentive to move from our current location. (After dozens of moves in the nearly five decades since I left home, I've come to see moving across the country or over the ocean to be no more of a pain than moving across town.)

Last year, rents in San Diego as a whole rose 7%, and the average monthly rent in Little Italy is now over $2,400, and still rising. We pay slightly more than that, for a decidedly smaller place than the one we rented for $1,750 when we first moved here in 2011. So, unless you already own property in San Diego, or have managed to accumulate and retain a large nest egg, the prospect of retirement here, however appealing it might seem, is economically infeasible.

Being researchers, we analyzed numerous "more affordable" places after our nest egg was cracked by the Big Bank Fraud (then smashed by the Great Recession and mopped up by the for-profit healthcare industry). Turns out we can live in a nice house in Coventry for less than half what we currently pay in Little Italy. True, Coventry has less than half the number of sunshine hours you get in San Diego, and twice as much rain, but our pensions should be enough to pay the bills plus occasional flights to see my brother in Spain, while keeping us in wax jackets and wellies to boot.

The changes we are making this year have already taught us a lot and as our journey continues I will endeavor to share what we discover along the way. In the meantime, I will be tweeting as @zcobb if you'd like to follow me there.

23andMe and Hemochromatosis

This blog post is a place holder related to a conversation that started back in 2016 when someone wrote to me, as follows:

I read your blog regarding Hemochromatosis and decided to look further into the 23andMe test. They tell me that their test results do not report on HFE. Do you know if this is a recent change with their testing or am I missing something? Below is the email correspondence I had with 23andMe [not reproduced here]. Do current 23andMe test results show C282Y, H63D and S65C mutations? If so, where do I find this information in the reports?

The question was addressed to me because I had been researching hereditary hemochromatosis due to my partner's condition: hereditary hemochromatosis. This is due to a genetic mutation (HFE) which can cause the body to mishandle iron intake. This can lead to excess iron in your joints and soft tissue, an affliction known as iron overload. If not treated and managed, iron overload can cause permanent damage and may prove fatal. 

We had both been early customers of the 23andMe genetic testing service. Back then it was possible to get information about one's HFE status (known by codes like C282Y, H63D and S65C). However, in 2013 the FDA took issue with 23andMe and censored access to this data. (Some of the background to this, from 23andMe's perspective, is here.)

In response the FDA restrictions, people found a way to extract the HFE data from the raw 23andMe genetic data (to which the FDA did not bar access). That was the situation in 2016 when I received the inquiry cited at the top of this article. However, in 2017, the FDA allowed 23andMe to resume the provision of HFE results (as described here).

The bottom line is that the set of instructions that I wrote up in 2014, documenting the workaround to determine HFE status from the raw data, is no longer needed.

High blood pressure cure? For some, this treatment is not a conn

Short Version/TLDR: 

I used to have persistent high blood pressure (HBP) that was referred to as "essential hypertension," but now I don't. 

• If you have HBP and low potassium, check out Conn's syndrome, also known as Primary Aldosteronism or PA. 
• If you have PA/Conn's syndrome, an operation can fix it. 
• I had the op in 2013 when my BP was 150/100 while on HBP meds. 
• At the end of 2013 my blood pressure was 120/70 w/out meds, and it still is.

Why am I re-sharing this information?

I wrote about my experience with Conn's syndrome back in 2013. This blog post is simply a re-sharing of what I wrote back then (with one new piece of data at the end).

Why am I doing this? Every time I hear a person say "I have high blood pressure" or HBP, my thoughts go like this:

• I know what HBP is like.
• HBP is not very nice.
• HBP can shorten your life.
• I am extremely fortunate that I don't have HBP any more.
• Should I tell this person about Conn's syndrome?

Of course, the answer to the "should I tell" question depends on a range of variables: who is the person saying they have high blood pressure? Where is this being said? Do I know this person? I try to weigh these variables before speaking, but as people who know me will tell you, I tend to err on the side of speaking up, sometimes to strangers. I also have a tendency to speak up about some things that other people might prefer to keep private.

However, a fair number of people have thanked me for sharing the story of my battle with high blood pressure because they found it helpful. And that is why I wrote about my experience, so people could "read all about it" if they wanted to, rather than listen to me talk about it.

So here are the relevant blog posts in historical order (as in earliest first - I am not suggesting that these articles are 'historic'):

• June 4, 2013: The adrenalectomy story begins...Sorry I’ve been out of touch (my adrenal adenoma is to blame)
• June 5, 2013: The Conn is on...Cobb’s got Conn’s? Probably, but I go through Adrenal Vein Sampling (AVS) to be sure
• July 13, 2013: A geek worried about a robot? Robot or not? Robotic surgery and risk, part one
• August 25, 2013: Success is in sight! Adrenalectomy, from pain to promising signs of progress

What now?

I always intended to write one more blog post on this topic, documenting the long-term prognosis and perhaps adding some references. I guess this is that 'one more' blog post. Sadly, I don't have time to do a full reference list but this article on Conn's syndrome is quite helpful, as is this more technical paper). Also check out the Primary Aldosteronism Foundation website.

My sense from reading the literature is that there will be many more cases like mine: people cured of their HBP, often after years of being told that their HBP had no known cause and they just weren't eating and living right. These people will be identified by: [a] continual improvements in ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI); and hopefully [b] greater awareness of Conn's / Primary Aldosteronism.

The summer of 2018 marked the five year anniversary of the operation that returned my blood pressure to 'normal' without drugs. It has been a busy five years. I started a masters degree in late 2014 and graduated in 2016, all while carrying a very full workload (from an employer wise enough to subsidize graduate school tuition).

For the most part I have felt pretty healthy. There have been some issues with my digestive system and I sometimes wonder if they are a lingering side effect, not of the adrenalectomy itself, but the infection I got during my hospital stay. 

Nevertheless, that operation was well worth it and I feel very fortunate that—thanks again to a wise employer—my health insurance covered it. I am reminded that it is in the national interest for everyone to have access to affordable healthcare, so that the negative economic impact of conditions like HBP can be reduced by more efficient diagnosis and treatment.

The sting in the tale

An update from late 2019: my adrenalectomy did not cure my atrial fibrillation, which was probably caused by the excess aldosterone in my body during all those years in which my primary aldosteronism went undiagnosed. 

Sadly, "the current diagnosis of primary aldosteronism is suboptimal–its delayed diagnosis results in end-organ damage that requires complex management...an increased awareness of primary aldosteronism is required in both primary and tertiary care so that an earlier diagnosis can be made for optimal patient outcomes." That's from a 2018 article in the Australian Journal of General Practice published by the Royal Australian College of General Practitioners (here's a link to the article).

All the more reason to let more people with high blood pressure know about Conn's syndrome / Primary Aldosteronism, so they can ask their doctors to investigate, before excess aldosterone has a chance to do lasting damage.

One of these days I will write about how many doctors and cardiologists missed the classic symptoms of my primary aldosteronism, and how I feel about that. In the meantime, I will keep telling people that there may be a cure for their "essential hypertension."