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How it feels to know you’re unwell?

Today’s most retweeted news in my stream seems to be an ultimatum sent by the US FDA (Food and Drugs Administration — don’t be confused by the name, as they work more like what in Europe would be a Ministry of Health) toward a service called 23andme. I got curious as I did not know the service, but the kind of reactions I read made me reach for my hand, and facepalm: most commentaries, with very few exceptions, seem to be either attacking regulation altogether, calling up for a conspiracy of drug companies (why? I’m pretty sure they’re pretty happy if third parties will tell people they have some disease for which they have treatments), or companies that do full blown genome sequencing (which seems a broken idea given that 23andme is not a service that replace them — it just provides an alternate, affordable alternative for the layman). After some ping-pong on Twitter with Jürgen I said I would write a bit about my experience and why my reaction is not the same as your average Internet user.

It’s a bit awkward for me to write thinking back to 2007, first because it’s impressive for me to get remembered it was now over six years ago this happened. But also because, as I’ll try to explain in a moment, my perspective changed considerably since then. I think the most visible difference is to be found in this post, a few months before my hospitalization:

I find this funny because lately I’ve been a bit tortured with myself about an opportunity I don’t want to miss.. but that requires me to take an airplane, and I’m terrified by the whole concept of airplane; and I’m trying to watch Nodame Cantabile to see how the protagonist (who also suffer from this problem) will get over it. Pathetic, I know.

Well, the opportunity I did not talk about in that post was an on-site interview at Google, in Mountain View, for a position of SRE in Dublin. I’ll leave the readers who haven’t paid attention to my recent move to guess where and for who I’m working right now. Yet this only happened almost six years after I was originally offered that on-site. It took a friend of mine convincing me with force to get on a plane for me to get over my fear, at least in part. As of now, I flew 14 legs this year. I’m flying two more to get back to Dublin. Last year I flew 18 legs. I got over my fear, sort of.

But the changes don’t only stop there. And they really did not move only in one direction, things are difficult. I’m pretty sure I can say that, compared to most of the people commenting around 23andme’s FDA kerfuffle, I have a better idea of my genetic risks, which I did not intend to have — this knowledge has been forced on me by what happened to me. I know for example that I almost definitely suffer from Gilbert’s syndrome and I have been thus avoiding paracetamol. Honestly, having known for sure that was the case before I was hospitalized would have helped, as then the doctors would have refrained to tell my mother that I definitely lied and drank the night before — the last beer glass I had at that point was already five years before, at the table, with my parents; I knew already that I don’t stand alcohol, and I found out afterwards (more on that later) that I’m a mean drunk.

I’ve been also told, but without certainty in this case, that the root cause of my health issues was most likely genetic — a predisposition to gallstones, gallstones that have been overlooked by my GP when I reported the abdominal pain that was the first symptom of the pancreatitis, and that even half my teachers in school expected to be a way to avoid tests — it was only if the test was for math, I hated that teacher and refused to study math for the best part of three years. My complex relationship with diabetes is also, according to some (but not all) the doctors who visited me, partly inherited. A tendency to diabetes is to be found in my father’s family, and manifested during my sister’s pregnancy as well. But at least according to the specialist who’s following me in Ireland, the primary cause of my current diabetes is the pancreatitis itself, which could have lead to mistreatment in Italy, where assuming inheritance (as my pancreas did seem to be working up to a point) brought it to be considered a full-blown type 2, instead of something that behaves vastly like Type 1, and still not being LADA.

I don’t know if HIT can be ascribed to genetics as well — but here’s where I find the idea, that people throw around, that once you talk with a doctor he or she will know everything that you have to do, is pure fantasy. When I was sent to the ICU, I was given, like everybody else, heparin, an anticoagulant – the idea is that if you’re forced to stay in bed for extended amounts of times without the ability to even stand up, you don’t want to risk thrombosis. Unfortunately, in me the end results of heparin are the exact opposite. I’ve been very lucky to survive that one — the hematologist at the hospital knew about the chance of that happening. But when I relayed this to the chief gastroenterologist at a different hospital one year later, he was convinced it couldn’t be possible.

I underwent a few further tests, and so did my siblings, when, after the ICU, and just before dismissing me, I got a high fever, and none of the stuff they kept trying to give me worked. They ended up sending cultures around different hospitals, and kept drawing blood from me daily. I can only imagine that if there was something else in my genetics that was going to distract them, they might have overlooked the fact I had a central venous catheter installed for over a month, and that caused a bad infection. After a full week of fever, it was a nurse in training telling me, and my father, his suspicion on the CVC being the problem, and admitting he couldn’t really say that to the rest of the doctors without risking losing his training spot. My father had to find the doctor responsible for the ICU, who stormed the unit, screamed at the equipe that was ignoring the CVC, and took it out himself. My fever was gone the next day.

So what I said up to now only covers some of my first reasons to think that services like 23andme, while being definitely something I’m happy to know exist, should not go unregulated. While knowing of things like Gilbert’s syndrome could have helped me, diabetes predisposition was a red herring for me. And having multiple known issues that could be the cause for a high fever would probably have killed me. I find it’s on the level of full body scans: I’m glad it exists but I’m not getting one (another?) for a long time.

But there is another side to consider, and that is the psychological issue: if you were to read every single blog post of mine between the time I went to the hospital and some time after I had surgery you can probably see that my mood was quite different than before and after. Why? Well, I lived that whole year expecting not to live until the month that was to come. I’m not kidding or exaggerating. I made my mother cry multiple times during that year because I wasn’t even planning to survive the month. I felt lonely and I ended up looking for companionship from a person that deserved better than a desperate, ready to die at any time, zombie like I was. I did not attempt suicide, as my mother understandably worried about, but you can probably see already that it had been in my mind the whole time. Spending over a month in a hospital, including two weeks in intensive care is not something I’d like to go through again — and I did end up at the hospital a few times since. I would be lying if I wouldn’t admit that every time I ended up in the ER (or A&E if you prefer), my thought was along the lines of “If it’s bad, please make it quick.” as I don’t think I have the strength, even now, to go through it again.

Again Jürgen shared a post by @mntmn that gives a glimpse of how easy it is for a software bug to give someone deadly worries. I wish I had his strength to just go through the results again independently, I doubt I would do the same — I know that the first thing I’d do would be to go see my GP, but would I have the strength of doing that, rather than just look for a quick way out? I wouldn’t bet on it right now. I feel much better, and much more optimistic about life nowadays than six years ago. It has been thanks to a bunch of friends who stuck with me while I was going down very bad roads, people who I met after who understood my fears. And yet, even without having a picture even half complete as the one 23andme would give me, I already came to term with the idea that I don’t really want children, as my genetic inheritance is more akin to a curse — not that there is any risk of that happening, given how I’m keeping single at 28.

I know people who wouldn’t be as strong as me either (and admittedly I’m not that strong), people whose first reaction would be to get a knife and be done with it. After all if the doctors need to tell you bad news, they usually call you to go to their office — and in my experience they ask you to not come alone. In Ireland I noticed quite a few ads for public service lines to support people who have been given news of cancer, and that nowadays can be less of a death sentence compared to other genetic risks. Which is what most worries me about 23andme in particular: while they make it abundantly clear for your rational mind that their results are not clinical, and that anything pointed out by them should be passed on to a doctor for a real diagnosis, people are not rational in regard to their life — not all of them at least. I know I’m not.

The final nail for me, for which I understand FDA’s position in regard to this service, has to do with what has been happening in Italy over the last year or so. A TV programme, started as a comedy but then entering some kind of “public service” kind of deal, started painting what had been considered an “experimental treatment” as a cure for a bunch of incurable syndromes and diseases. And lo and behold, to satisfy all the hatred for “big pharma”, and all the conspiracy theorists of the country, they declared that the bad Ministry closed down the Foundation that was administering said treatment just for spite. The fact of the matter is that the laboratory was inspected after an inquest was started after one of the few patients died, and they found not only code violation, but seriously threatening conditions of work. Further investigations pointed out that the so-called “Doctor” who has been brought to the attention of the media is actually a literature major. It’s basically a fraud, but people who are desperate still believe the fraudsters.

And before you say “It’s their problem”, after the media scandals on the Ministry shutting down the laboratory, judges had to allow the previous patients to get the treatment still, but to do so safely, national hospitals are used. Which means that now the Italian national health service is paying for people to get a fake treatment. Which is not something I’m proud of.

So to conclude, my opinion at this point is that I’m partial to get services like 23andme regulated — which does not mean shut down! But they need scrutiny in what they assert; bugs like the one @mntmn wrote about can kill people, it’s not a hyperbole, I’ve seen people in the hospital after the bad news. I know how they felt. And I know of some who didn’t get the strength to keep going afterwards.

Myself, I’m wondering — would I try my luck with the service? I’m living happy (or the closest thing i can afford) now, I wouldn’t want to stir up trouble. On the other hand, information is power. I’m not sure, I think I’ll speak with my doctor next week (I have an appointment already for when I’m back in Ireland), and if the service is still running then, and he thinks it can be of help, I’ll go through it. I know at least that if something comes up on the results, I would be able to call him immediately.

But this is my point of view, the point of view of somebody who has gone through the bad side of medicine and stared into some of his genetics issues… I don’t want to sound self-righteous, but I’m afraid Jürgen, with a relatively clean bill of health – the PPI response is indeed something useful to know on how much to get, but it’s not a deal breaker, given how quickly doctors seem to provide it – cannot feel how it feels to be given bad news.

Comments 6
  1. It’s fun to look “iatrogenic” in the dictionary IMO. And unlike you I’m stuck somewhere where my health is not that bad to desperately look for doctors and it’s not so good that I can visit them regularly (remember, there are no healthy people, only badly checked ones). Of course I got some nice hereditary diseases too complicated by the fact that ancestors refused to disclose them (or get checked at all in some cases).At least you’re not in so bad state now (and even able to drink Trocadero).

  2. Man.. I can totally relate to all you’ve been through… It’s like reading what the last 18 months have been for me, except I was at the ICU for a whole month and then another month in a regular hospital room. Had a bunch of organs removed, got diabetic, still have nodes in the liver and weighing half as much as before, but getting better by the way 🙂

  3. Leon, I sure hope you’ll be able to write a similar summary in the next future. Hang tight!Kostya, thanks that word is going to be my favourite word from now on, as it’s definitely spot on. And yes, I can drink the sugar-free Trocadero, I see why it’s addictive.. Just make sure to not get in too much trouble!

  4. I had my own health issues a couple of years ago with a very rare autoimmune condition that resulted in my lungs becoming irreversibly damaged. Luckily they managed to get it under control, but the difficulty breathing gives me a constant reminder of what will likely kill me (unless they have cool robot lungs by the time I need a genuine second-hand set).I happen to work in statistical genetics on human data and have very good knowledge of what companies like 23andme can provide. For me personally, it would have been a waste of time. The disease I had is very, very rare so there is no genetic information available (although it probably could have informed a predisposition to an autoimmune condition – which was already painfully obvious from my symptoms).In general, is it a waste of time? Probably… Firstly it is a risk prediction. So you are at 1.1x more at risk of getting a disease that the average person. Your actual risk is still low. In the case of Type 2 diabetes, would that extra bit of information convince you to follow the advise doctors already give out anyway regarding maintaining a healthy weight and diet? Doubtful. And for some diseases, there is not much you can do to with the information apart from worry. And given the complete lack of understanding in the general population of what a slight genetic risk for a disease means, worrying and confusion are the likely outcomes. In my opinion, the general lack of understanding of what people are getting with these tests is enough reason to regulate them.But the geneticist in me sees this as a wonderful resource that will provide insight into disease…

  5. Honestly, I have mixed feelings. I do agree that companies should be regulated insofar as they don’t misstate the accuracy/usefulness of the data they deliver, and perhaps even to ensure that the raw data itself is accurate.That said, much of medicine in the US goes to the opposite extreme. If the FDA had their way early-on you would go to a doctor and they’d order up a prescription for a test to indicate predisposition to heart-disease. Then a company would charge you $500 and run your DNA through a chip that examines for the presence of 1M SNPs. Then the company would deliver the results of the 25 known SNPs that have something to do with heart disease and a fancy report, and throw away the rest of the data. You’d then have to pay the doctor again to have him share the results with you – if he felt that was appropriate.Sure, the fancy webpages that 23andme provides are nice. Their relative finder is useful and something only a web-based service with a trusted info broker could provide. However, what I was really interested in was my raw SNP data – if the FDA shuts them down others lose out on the ability to find out about themselves what I already know, but I can’t really lose anything.I think it is important to take services like this in context. There are some diseases with a strong link to simple DNA mutations, like sickle-cell anemia. If 23andme tells you that you and your wife are carriers for that, and you decided to have a dozen kids, it would be a pretty safe bet that at least some would get the disease. However, for many diseases the most they can tell you is that you have a 10% higher chance of getting diabetes/etc, and there are other factors with a much bigger impact. Over time it is likely that the predictive ability of these tests will improve.Right now the methods used to study these conditions in bulk really only are useful for very common diseases, and they’re going to generally detect very weak genetic contributors. Rare diseases aren’t all that rare, but any one individually is, and that makes studying any of them difficult logistically, statistically, financially, etc.It would be a real shame if services like 23andme weren’t available to those who are interested in them. However, I’m all for educating the public on the benefits and limits of these tests.As far as your own health problems go I can only wish you luck. Fortunately I’m fairly healthy, but I’ve spent weeks in the hospital with my wife who has had a number of serious problems. Something that has caused a fairly liberal shift in my ideology has been my realization of how much of one’s lot in life comes down to luck.

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