Today I found out I don’t have one chronic genetic condition, but two.
That’s not quite true. In many ways, I started this ‘Being Mutant’ thread here because I already suspected it was the case. Today, I simply had it confirmed, by a test I was about to ask for, and didn’t realise had already been done months ago.
This revelation began last week, when my Mum’s English GP rang her in Spain with the results of some recent blood tests. Mum’s been ailing all year, but it’s taken visit after visit to the doctor to get them to listen to her. She’s in her 70s. She’s been in so much pain and so exhausted she’s been struggling to walk down the street. On her last visit to the doctor, he told her she just needed to lose some weight.
My Mum has the same Marfanoid elements to her body shape as me, though in slightly less extreme form – the high narrow palate, the arms too long for the body, the disproportionate hands. Her Mum also had these features. We know now these are defining features of EDS. Her EDS symptoms have never been quite as bad as mine, but it’s pretty clear that she has it. Knowing about EDS explains so much of her life in her body, as it does for me. It doesn’t, however, explain her recent downturn.
The GP rang her in Spain because blood tests had shown her iron levels are too high.
You’re probably familiar with the problems of iron levels falling too low – of iron deficiency anaemia. You may not know that too much iron can be just as problematic.
We certainly didn’t.
Being one of those older people who have adapted the ipad like an extra limb, Mum looked up iron overload, and then called me, because what she read described me too.
Today I went to my second appointment with the GI consultant I’ve been seeing for EDS, Dr. Zarate Lopez at UCLH. She’s been really helpful. Unlike the gastroenterologist I was being seen under for years at the Royal Lancaster Infirmary, she was able to identify a key problem (bile salt malabsorption) and give me a simple medication that helped it after one appointment. She also ordered a lot of tests, including some bloods I had done that same day in April.
Today she told me that all the tests I’ve had so far have been normal, except … and I knew, of course, before she said it … ferritin. Ferritin blood levels test how much iron your body is storing. Levels for an adult woman should be anywhere between 12 and 150 ng/ml. My levels, in April, were over 1000 ng/ml.
That’s pretty high.
There are a lot of similarities between EDS and Haemochromatosis, and not just in the symptom overlaps (joint pain, fatigue, etc.).
Like EDS, Haemochromatosis, is (usually) genetic.
Much like EDS, it is caused by mutated genetic code. These mutations alter the way the body processes iron, leading it to accumulate to toxic levels if not removed.
Unlike EDS, however, Haemochromatosis is nothing like rare, nor cannot in any way be confused with a rare disease. In European countries, the average incidence of Haemochromatosis is about 1 in 400. In people from Celtic and Nordic backgrounds the incidence is so high it is known to some as the ‘Celtic Curse’.
The incidence amongst Scottish populations might be as high as 1 in 200 people. In Ireland it’s 1 in 83.
Seriously. 1 in 83 people!
There are two huge differences between EDS and Haemochromatosis, though, from a patient perspective.
Firstly, their effect on life expectancy. EDS is life-ruining for many people with it. It is debilitating, painful, frustrating, limiting, and for many, deeply disabling. Unless you have Vascular EDS, however, EDS in itself will not effect your life-expectancy.
Haemochromatosis will. Too much iron is being stored in my body – far too much – in my skin, in my vital organs – deposited in my joints and stashed in my ovaries and my liver and my heart. Allowed to stay or grow even further, these iron stores will cause serious organ damage. If left untreated, Haemochromatosis causes Cirrhosis of the liver, then liver cancer, and a variety of unpleasant heart problems, as well as a range of debilitating physical and mental symptoms.
This brings me to the second major difference. Haemochromatosis can be managed – simply – so simply. If caught early enough, all damage could be avoided. All that is required is a course of intensive blood-letting (I know! So C18th!) to bring the iron levels down to a reasonable level – then they can be kept down by regular bleeding. So why aren’t doctors testing for this common, deadly, but completely treatable condition?
My mum is from the West coast of Scotland, so it’s not too surprising that she has it, in some ways, especially when you consider a family history in which all the women seem to develop diabetes sooner or later, and heart disease.
But for me to have it, I must have genes from both parents, which means my dad is also either an iron-loader, or a carrier. We suspect the former.
How can they have got to their 70s, both symptomatic to greater or lesser extent, and no one ever done this simple blood test to rule in or out this common condition?
How can I have had what seems like a million tests in the the last 18 years, and have only found out now, when my ferritin levels are in the danger zone? Shortly before my EDS diagnosis, I was even tested by a neurologist for Wilsons’s Disease – a similar condition in which the body accumulates copper. Only Wilson’s Disease really is rare. It affects about 1 in 30,000 people. Why and how was I never tested for Haemochromatosis when it is common and has a clear symptom overlap?
I think I’ve probably been iron-loading since my teens. It’s hard to distinguish some of the Haemochromatosis symptoms from EDS symptoms – in truth I think they’ve been weaving through each other – exacerbating each other but also making it harder to identify either condition.
Dr. Zarate Lopez said something today that I’ve thought for a long time – that many doctors, when faced with a patient with a clear history of a condition with wide-ranging symptoms like EDS (or Chronic Fatigue, or MS, or you name it) choose to put every single thing the patient complains of down to that one pre-known condition, and don’t do the appropriate investigative work to find out what is really causing the symptoms. I know this happens with mental health problems a lot too, and it’s unforgivable.
Its astonishing mum and I have had this particularly peculiar coincidence of both finding out we have Haemochromatosis independently within a week of one another. I had gone in to my appointment today intending to ask about it, and I’m deeply grateful, and impressed, that Dr. Zarate Lopez got there ahead of me. Why? because she treated the ferritin test – as it should be – as routine.
When I got my EDS diagnosis last October, I was elated and relieved to have it finally confirmed (!) that I wasn’t hysterical or delusional, but that there really was something wrong. At the same time I felt a deep despair welling up. I knew enough already at that point to know that EDS couldn’t be treated as such, only managed. That things might only get worse over time, and that this diagnosis would not mean relief of symptoms.
Today I found out that some of my symptoms are actually warnings of something more grave, but more responsive. There might, after all, be some kind of relief.
Final thoughts on this right now –
- Everyone who has ever struggled to understand why I seem so tanned and yet live in one of the wettest counties in England? You were right. It’s not that my tan isn’t natural, but it isn’t normal. It’s not even a tan. It’s basically rust. My skin is rusty. This ‘healthy glow’ is a sign of a serious illness. From now on when you greet me instead of saying ‘Oh you’re so tan! Have you been away?’, you should say ‘Oh you’re so rusty! Haven’t you been bled recently?
- Consider the Gothic. Firstly, people with Haemochromatosis (Haemochromites? Haemochromiacs?) must make perfect companions to vampires. Not just willing to be bled – needing to be bled. That, my friends, is symbiosis. Secondly, if a tan is the sign of sickness, pallor must the sign of health.
- Where are the famous Haemochromites, if we’re that common? Dr. Zarate Lopez told me people in Spain know about the condition because of a famous banker who was repeatedly ribbed in the media because of his tan – suggesting a life of leisurely golf-rounds and pool parties – who revealed his bronzed skin tone was caused by Haemochromatosis. Poor old Hemingway – so bronzed from all that fishing and all that iron-loading under the Spanish sun – died of it.
- Does this mean I am Irish enough to enter Irish literature awards? Surely I must be Scottish enough for Creative Scotland?
- I became a Romanticist rather by accident, but it has come to make more and more sense. I have chilblains, palpitations, general malaise, take opioids for pain, walk for my health, and it turns out I need to be bled frequently. Could I be any more Long Nineteenth Century? Bring out the leeches! No wonder I have such sympatico for poor little Thom. de Q.
- I always knew there was something very wrong with the way my body was working. I was right! I was right! I know best! I am very, very wrong.
- Have I mentioned how much I hate having blood taken? No, I’m not super-exited for weekly bleedings. That’s why I’d rather a friendly vampire did it, and glamoured me into not caring.
- A Bronze Medal for Double Mutation over here please.