Picking up where she left off in October of last year, Lucy continues her candid blog on life with the lesser discussed manifestations of Marfan syndrome. Lucy’s digestive dilemmas had led to weight loss which in turn drew unwelcome attention from passers-by. Yet her increasingly slender physique did not seem to interest her local doctors, until recently. Finally, it seems they have diagnosed the problem.

Hello everyone, it’s been a long time hasn’t it? If you’ve read my previous blogs, then you’ll already know a little bit about me & my health problems. However, because it’s been so long, I thought I’d write about how poorly I was last year when my suspected gastroparesis first began. Firstly, just for anyone who doesn’t know, I have Marfan syndrome & a lot of associated medical issues. Connective tissue is supposed to be strong enough you to support the body, but mine is faulty. I’ve always suffered with bad acid reflux, stomach discomfort & bowel problems. But at the start of last year, it got much worse & I realised there was more to it than that. As the digestive system is made up of connective tissue, I started to wonder whether Marfan syndrome was causing it. I was rapidly losing weight & suffering from a wide range of gastrointestinal problems. I couldn’t keep food down and I felt bloated & nauseous after eating small amounts. I felt really unwell because the symptoms were quite unpleasant. I didn’t notice to begin with, but my family say I looked rather poorly. In all honesty, I think I was just trying to avoid having to admit to anyone how unwell I was. I tried to keep as much of it to myself as I could because I didn’t want to concern anyone. They knew something wasn’t right, but I was just trying to pretend I felt fine. Most days I felt dreadful though.

I reported my dramatic weight loss and gastrointestinal problems to the doctor on numerous occasions, but I wasn't really being listened to. They referred me to a GI (gastrointestinal) consultant & just expected me to wait for that appointment to come through. However, it was postponed time & time again due to COVID delays, and nobody seemed to care that my weight was still dropping. Eventually I had to insist on a face-to-face appointment with my GP because I now weighed less than 6 stone. I was skeletal looking and had lost all my muscle mass. I felt tired & weak and didn’t have the energy to fight for my needs, but that’s what I was having to do. The GP was actually quite sympathetic towards me during the appointment & even he told me I looked ‘bloody ill’. He chased up my referral and swiftly put me in touch with a dietician who immediately prescribed nutritional supplements because I was awfully malnourished. I was still eating as much as I could, but tolerating it was a real struggle. I was vomiting some days because food just wouldn't digest. I didn't know what was wrong, but I knew gastro problems were common with Marfan, so I suspected it had something to do with that. However, I wanted proper answers. I'd been dealing with this for long enough.  

I was prescribed a combination of nutritional supplements to try increasing my weight. They were in liquid form which made them easier to tolerate, as solid foods seemed to aggravate my digestive system. I followed the dieticians advice and took them as instructed whilst I waited for my appointment with the gastrointestinal consultant to come through, which didn't happen until October. I didn't feel any better by then but I think I had just got used to living with these new symptoms. Life with unusual medical problems wasn't out of the ordinary for me, as I'd lived with health issues since I was a baby, so I guess I was just good at putting up with things. Anyway, upon seeing me, the consultant said he was deeply concerned about the state of my health & he sent me for 2 urgent tests to rule out anything sinister. One test came back okay, but the other one showed some stomach inflammation, which can apparently happen with certain stomach or digestive diseases. I had to go back to see him but once again, the appointment took quite some time to come through & I had to wait until the beginning of this year, even though he'd urgently referred me for tests. It was at this appointment when he first mentioned gastroparesis. 

It wasn't a shock to me as I'd suspected it all along due to my inability to digest solid foods, but I was disappointed to hear that I possibly had another life-long medical condition. Didn't I already have enough to deal with? He didn't 100% confirm it, as he still wanted to do some more tests. But he told me a little bit about gastroparesis - In simple terms, it just means that my gastrointestinal system doesn't digest food in the normal way, most probably caused by my weak & faulty connective tissue. He said he strongly suspects I have it, so I've been diagnosed with 'suspected gastroparesis' for now until the other relevant tests have been done. Fast forward a few months and I'm still waiting because they are still massively back-logged. I'm not happy about it but it seems there is nothing they can do. The nutritional supplements helped me gain a few pounds but I recently had a gastro flare up & wasn't able to eat much, so it's impacted on my weight & it's decreased a little once again. From what I can gather, I don't think much help is available in terms of treating gastroparesis. However, I just feel like I've been given this possibly new diagnosis & then just left to get on with it without any input from a professional. I know I'm under the consultant now, but he doesn't want to see me again until after my next lot of tests- and I've already been told that I'm unlikely to have them this summer. I still struggle to digest food, but I've learnt to cope with it now. If I'm feeling particularly bad in terms of my GI system, then I'll just stick to my liquidised supplements for a few days. I'm hoping that I'll be lucky & get my relevant tests before the summers is out. Fingers crossed

Thanks for reading guys. I know it was a long one, but I just wanted to bring you all up to speed & go over everything from the start so that it'd make more sense. Keep your eyes open for the next update! Lots of love, Lucy.. X

The first three instalments to Lucy's Blog can be found here:

Part III

Part II

Part I

Marfan Trust, a CIO registered as a charity in England in Wales with charity number 1198847 at: c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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