Genetically Challenged.

We moved away to Somerset, we didn’t find our forever place so after four and a half years we sold up and moved back to Suffolk in the east of England in May 2017.

We threw ourselves into the refurbishing of our house. Well the truth is I didn’t actually do very much as I was exhausted The husband, who can turn his capable hands to most things began the project working flat out to make our home warm and dry.

Eventually, we thought to find a doctor, a dentist and an optician etc. A week of changing addresses, doing paperwork, joining electoral roles and collecting information took place.

During my new Doctor consultation (I thought him very thorough), a gamut of questions were fired at me, from under an arched and knowledgeable brow. Lots of poking and prodding, weighing, measuring and listening occurred. Squeezing, knocking and the questions went on for an exceedingly long time. Next, I was given bottles and forms to both fill and present to the hospital. This is where I cut to the chase and leave my usual shaggy dog story peacefully in its dog bed.

I had been to the doctors over the last four years with, the pains in my joints, falling asleep, that we all laughed about, the getting lost and my words muddled, the misty or foggy headedness, the heartburn and the chills I had when everyone else was warm, bouts of cistitus that I just couldn’t clear up.

All the above were individually poked fun at by family and friends, none more so than by me. Silly me, getting old, winding down getting a bit quirkier than I was before. It seemed, the harder I tried to get myself fit, the slower and crappier I felt … the more often I stayed in my pyjamas the more it became an Ellen thing, to be laughed at, I stopped saying I am too exhausted to get dressed.

I had my thyroid checked several times, my blood, cholesterol and sugars, to no avail. I was told to lose weight, about 20lb was suggested for optimum fitness. At this point the doctors (I had seen a few) I felt, were beginning to think I was lazy and wasting their time. They said, maybe it was taking early retirement, or I was depressed missing family and familiarity, but losing weight and getting fit would help. So on I struggled, a sleepy, chilly, foggy headed woman who was more and more muddled, weak and in pain.

Well, I can tell you with some relief, that I am not lazy, fat or a hypochondriac, I have a metabolic, genetic condition that has been very gratefully spotted by my new GP. How lucky was I to have moved and to have seen someone who knew what he was looking at. He noticed my bronzed skin which incidently makes me look super healthy. When your looks don’t pitty you it is hard to be believed or get acknowledgement. Dr McColl, listened to my account of severe tiredness and sent me for blood tests. Six hours later he phoned the house to explain that a DNA test was required to confirm the diagnosis. After weeks of waiting it was confirmed. I have Haemochromatosis, the Celtic Curse, bronze diabetes or the Viking curse. For a condition that I had never heard of there are plenty of names.

Basically, I store iron, my blood then chucks it into my organs and tissues, the brain, liver etc. This toxic stuff causes havoc where ever it lands. There is no cure … but there is a treatment for which I am very grateful … and though scared, I will suck it up and get on with it. I won’t let it win or change me, it will not define who I am. Still I smile, with damp eyes and a fighting spirit and a bloody good tan.

Since August 2017, I have had needles and cameras in orifices I would have preferred not to, I’ve seen pictures of a few places … even I hadn’t seen before. I have been humbled by the kindness of medical people and scared by the condition and the vast amount of knowledge that I am unable to take in, but I am loved thoroughly by those who matter.

Here is the joke, you knew there would be one … I have a needle phobia, always have had and the treatment, the only treatment is Venesection. Blood letting, phlebotomy, removal of my toxic blood. Before we left for the first treatment the husband thought he would … relax me, he wore a wicked grin when he searched You Tube and had to wipe his eyes for the thirty minutes he played me Handcocks Half Hour, a comedy radio skit from 1961, where Tony Handcock donates blood.

One Venesection down and I didn’t disgrace myself, I am sucking it up! What the hell else can I do? So I guess right now, according to Tony Handcock I have an empty arm ‘Tah Dah boom!’

Every seven days a pint has to be removed until numbers drop and stabilise (how long is a piece of vein/ string). Then the gaps will widen to monthly and in a few months or years, maybe I can get down to four times a year with monthly blood tests. For now my toxic blood can’t be used and gets poured away. Once I am in maintenence it will be used and my donations will eventually help others. But basically … ‘If you want to live and be healthy, you got to bleed … forever.

The husband, he suggested leeches, we have a well in the garden so it could be an option. Someone actually said ‘You must wish you could self-harm.’ Then some people are sick! I became upset when a family member said ‘So what, it’s not a biggie,’ easy to say when it’s not you, said from that place of comfort. Another writer/ bloggy person unbeknown to him gave me an idea.

An advert!

Wanted! A Gentle Male Vampire with sharp teeth.

The successful applicant would be required to come to my home under his own steam. To be dressed in traditional uniform and to specifically partake of dinner twice a month, until further notice.

Wages will be in the form of warm B rhesus negative

Iron enriched the oxygenated blood.

Conversation will not be necessary,

Though good oral hygiene is a must.

The applicant/ Sanguineoue being, will not be permitted, in fact, will be forbidden to partake of any other beverage from any source whilst in my employ, or my home.

Once the task has been completed he will depart the way he arrived, leaving no sign that he ever attended.

If interested in this position please reply by email/ sonar or echolocation … at your soonest opportunity. Only experienced thirsty practitioners need reply.

P.s. no sympathy required I am lucky, I at least can be helped. Sometimes I can’t focus enough to grab my words and writing or talking coherently is not happening. It hopefully will improve and I will be back, talking, writing and reading and laughing regularly.

P.S. When the specialist said, “You’ll see, we will get you back feeling normal, it will take time; we will improve things.” He was looking into my eyes holding my hand. That’s when The husband laughed aloud and said: “That will be novel, nobody’s accused Ellen of normality in years.” Both men were in hysterics, I think that says it all. I have always risen to a challenge and Genetically challenged will be no different.

Hemochromatosis the most common genetic condition that is also the most undiagnosed and least talked about there is.

As a writer, a teller of stories I get through with my tongue firmly in my cheek.

For information, support and to help raise awareness go to.

https://haemochromatosis.org.uk/

P.S. A year on and I am in Maintainance, which means, as much stored iron as possible has been removed. I am now at a level I am able to live with. Of course the iron will always load this is a forever thing. I bimonthly blood tests, then Venesect if needed; approxamately every three months.

I am left with: extreme exhaustion, intermittent brain fog, Osteoarthritis, Oesophagitus grade 3, Thyroiditis, C,O,P,D, and a partridge in a pear tree. Don’t sit on this โ™ฃ๏ธ I would hate to press my luck ๐Ÿคฃ๐Ÿ˜ƒ๐Ÿ™ƒ.

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85 thoughts on “Genetically Challenged.

  1. I don’t have enough iron… My heritage dis-ease is Anemia. I can’t even donate blood – ‘they’ don’t want it – it’s not strong enough to help anyone. I did have the Big C scare.. but it turned up negative. My hubby had some ‘pre C’ spots removed. I think we all have different dis-comforts. But humor is a key.

    I’m glad you found a Doctor that was able to help you. I’m a bit wary of that profession these days. I’ve just haven’t had the best luck in trust. But so far I’m still the up side of soil, so that’s good ๐Ÿ˜‰

    Be well and keep smiling. Hugs, Jules
    (Oh…you can ad a link anytime- I don’t think it’s rude. You can also email me anytime…)

  2. I feel your pain – I avoid having my blood taken as I faint and panic. I hope you’ve gotten better with it and more used to it as time goes on? And I hope you’re feeling better now that you’ve been diagnosed for a few months? P.S. hello from a fellow East Anglian blogger – I’m in Norfolk but grew up visiting Bury St Edmunds for shopping trips as a child as we lived just on the Norfolk-Suffolk border!

    1. Wow it is a small world if you are in Bury dm me on twitter id love to catch up. It is proving a tough nut this condition but … I just do it! no option really. Once I get as low as they can get me they say things will improve. Fingers crossed, it is a long haul this forever bleeding.

  3. Sorry to hear about the diagnosis Ellen. I thought there were a few alternative therapies to exsanguination to treat hemochromatosis, but looks like you’ve found a win/win scenario here. If you do track down a vampire (and not one of those True Blood celebrity types ๐Ÿ˜‰ ) I would totally love to meet him/her!

    1. *sigh* and I thought you may have one for me. P. S. The diagnosis will mean I can stop the worst or slow it down but it takes a while to get your head around.

      1. You’ll have to check out next weeks post… I’m pretty sure “Mr Traian” is hiding more than he lets on, but I doubt he’d be willing to volunteer his blood-letting services unless you’d be willing to migrate to a remote Romanian village (without utilities;) )

    1. You never know how today will be so organising and sticking to it is difficult and I don’t want to let you down. That is why I haven’t arranged a meet up yet.

  4. Jumped over from the Senior Salon – GREAT to have that back up again to make it easy to jump from blog to blog, isn’t it?
    ~~~~~~~~~~~
    I hated the disclosure of the mean/unthinking comment and the docs who concluded that, since *they* couldn’t find the problem that there was nothing there TO find as much as I loved the rest of the article – especially the vampire advert. Doctors who “listen from belief” and friends who empathize are worth their weight in gold, aren’t they?
    I have a few friends (and even more blog-buddies) who are struggling with MUCH worse, day to day, and even they would never say that what you are going through was “no big deal.”
    There is only one answer to a comment like that, “UP YOURS!” (unless, of course, you wanted to fight cruelty with kindness, smiling knowingly as you say, “I hope your life continues to be unusually fortunate and that you never have to find out otherwise.”)
    Onward and upward. It won’t be long and you will be back to your “old” self. Watch out world!
    xx,
    mgh
    (Madelyn Griffith-Haynie – ADDandSoMuchMORE dot com)
    ADD/EFD Coach Training Field founder; ADD Coaching co-founder
    “It takes a village to educate a world!”

    1. It is good that Bernadette has felt the courage to return. You are kind to comment and read. I am having my third venesection tomorrow and hope the numbers will have come down, as so far they have risen. The iron is being dumped in my brain so I know the fear of dementia. But I have every faith that it will work I have had three clear days in ten. Three more than some. The advert hasn’t been a success … at least not yet ๐Ÿ‘ฟ

      1. lol – while you are waiting for applicants, pop over to my blog for tons of advice about working with “brain-fog,” neuroplasticity, and brain-health, etc. That’s my specialty.

        Good luck getting through tomorrow. Lessons in courage, perhaps? (bummer, huh?)
        xx,
        mgh

  5. That sounds like an unsettling experience though so glad you have an answer. The move brought you closer to an excellent doctor. Feel better soon, love your humor and the bloodletting idea.

    1. At the level it is today, mine would be toxic to anyone even if we matched. But once down, you are exactly the person that would benefit. Meanwhile it goes down the drain ๐Ÿ˜ฑ๐Ÿ˜ฒ

  6. Wowโ€ฆ Ellen! What a lot to contend with. But at least you know know whatโ€™s been going on, and that there is a treatment which can make a big difference to you. How fortuitous that your move back to Suffolk opened the door to a fresh look at what was going on, from a GP with no preconceptions and prejudices. You have a lovely way of balancing the trauma with humour, and Iโ€™m certain that will help see you through those appointments with the blood-letters. Keep up the positivity and you will thrive. All the very, very best to you. Jx

  7. Whoever said that it’s not a big deal is an idiot. I don’t mind needles and have voluntarily given blood many, many times in my life and I still think having to do it every ten days is a big deal. You’ve gotten through the toughest part, getting an accurate diagnosis. Once that’s accomplished the rest becomes easier and your life gets better. Aside from learning about your condition, this was a very funny and well written post. I love posts like this because so many people do have medical challenges that others can’t see and sometimes others assume that if you look normal, you must not feel too bad. Good luck with all the medical stuff.

  8. A very amusing advert, Ellen. What else can you do? At least they have discovered what is wrong. We also went through this for six years with our oldest son and he had 18 operations before they discovered the rare disease he has. It is much better now that he has proper treatment. It will be the same for you. Hugs.

  9. First of all, I love the advert. Keep up the gallows humor. It will make you stronger. I am so happy that you found the right Doctor and have an accurate diagnosis. It is always easier to fight the known.

  10. Fair play to you Ellen for keeping cheerful throughout this. I’m sorry, but I had to skip reading parts as talking about blood & needles leave me queasy! ๐Ÿ˜ฃ Hopefully you’ll be back in full swing in no time at all! Take care Ellen x

  11. I’m so glad you know what’s wrong in order to fix it! I also love the attitude. What if you really DO find a candidate for your open vampire position?? Now that would be something. . .
    Facing your needle fear and getting back to whatever feels like your “normal” wonderful, unique self is a beautiful thing. Thank you for sharing your journey!

  12. Oh I am sorry you have got to go through that blood letting procedure, Ellen, it canโ€™t be very nice for you, especially as you have such an aversion to needles. I know it is no consolation at all, but now you know what you are dealing with and getting treatment, hopefully you will start to feel better. I wish you all the best ๐Ÿ™‚

  13. I am so sorry to hear about your health condition but I am glad that you finally have a diagnosis and at least it can be treated. Most of all, I am glad you did not lose your humor, Ellen. And this is what will help you through the worst and which made you still stand tall although you struggled the past years. I wish you all the best and that everything gets better soon due to the treatment. Big hugs!!

  14. All the best with your treatment, Ellen. Sod’s Law it would involve needles! But as you say, it’s so good for you to know exactly what’s wrong after all the time spent wondering and worrying. I hope it won’t take too long before you begin to see an improvement in how you feel xxx

    1. All I need is them to come up with a cure that you can only get jumping from an aeroplane … my only two fears thwarted in one fell swoop. Heights and needles. x

  15. I am thrilled you finally have a proper diagnosis and treatment. I am, however, incandescent with rage about the family member who talked about it not being a ‘biggie’. Sometimes family can be the most unthinking. To this day I think my one remaining aunt by marriage thinks my autoimmune condition was a figment of my mother’s imagination. Grrr.

  16. It doesn’t seem to have affected your ability to write beautifully and meet challenges with positivity and humour. I know you said you don’t want sympathy, but I am sorry. My sister-in-law has the same condition and it definitely does get better with treatment – she is incredibly fit and energetic. Once the excess iron is removed, your body starts to function normally again and you’re not pumped full of drugs. Probably not much consolation if your a needle-phobe, but you’ve survived the first one. It can only get better and when you start to feel better, you’ll reap the benefits for sure. Best wishes

    1. Then The husband better watch out! Thank you I wish your sister in law well. Meds are already in use to combat some of the nasties but I know it could be worse. This is the first write I have managed in eight weeks, three days it has taken focussing is tough but I will get there.

  17. Wow! My goodness, you must be so thankful you moved and found a new doctor. I’ve never heard of this condition before. Wishing you all the best. And if I hear of any vampires looking for work I’ll send them your way ๐Ÿ™‚

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