a new physio and a new diagnosis (July 2024)

Hello everyone, I know I've been very quiet lately but I'm still around. I've just been busy with appointments and general life. Trying to manage Marfan syndrome alongside my other health problems sometimes feels like a full-time job in itself. My joints have been rather painful lately but I've just started seeing a new physiotherapist who knows a lot about bones, joints and connective tissue issues. He's created an exercise plan for me and I'm doing my best to give them a go every day. My joints (and I) tire very easily, though. So I don't always achieve it to the best of my ability. 

The physio examined me more thoroughly than previous ones, and he diagnosed me with scissor walking. I'd never heard of this, but it now makes so much sense. In short, it just means that the knees, thighs, and legs cross over each other when walking. I've always walked this way, and I knew it was because of my hypermobility but I didn't know it had an actual name. The physio thinks that trying to work on my muscle strength and coordination may improve this slightly, so that's my next challenge. Ever since childhood, my hypermobile joints have been a challenge for me, and I recall my older brother having to carry me around Blackpool during a family outing because my flat feet and noodle knees caused me to keep falling over.  My Mum had taken me to the Doctors on numerous occasions but back then, we were always told I was 'just' double jointed. We later discovered I had Marfan syndrome and everything started to make sense about why I had so much trouble with my joints. 

I can't remember if I told you all about my referral to speech and language for my ongoing swallowing problems. I finally saw them last week after waiting almost a year. They asked a lot of questions and did some thorough assessments, and then they gave me another unfortunate diagnosis of moderate Dysphagia, which means difficulty swallowing. It wasn't a real shock as I'd been having swallowing problems for the last 12 months. However, I still felt disheartened to come away with another medical condition. I can still swallow, I just have to be super careful as the dysphagia either causes things to go down the wrong way or get lodged in my throat. I've had some frightening episodes of that happening lately. We don't know for sure just yet what's causing my dysphagia, so I'm waiting to be referred for more investigations, but it's thought to be linked to my esophageal/GI dysmotility. I also believe that it more commonly affects people with connective tissue disorders, so it seems there might be multiple factors involved for me. I don't know if there's any treatment for dysphagia, but I think I'll find out after my next lot of tests. 

At the first appointment, they assessed me by trialling me with different food consistencies including yoghurt, cake and biscuit. I was ok to start off with as yoghurt is something I can manage, but I struggled a bit when we got to the biscuit. As you can imagine, it lodged itself in my throat due to my dysphagia. I had to clear my throat and have a drink, but I was fine afterwards. I think I’ve recognised all my ‘trigger’ foods now, so I only eat what I can manage and what I know I’m safe with. But I still get nervous when swallowing anything a bit more solid or crumbly.I don't have an update regarding my PEG surgery, as I'm still waiting to see the multidisciplinary team again. To be honest, I'm starting to lose hope now because I'm just so done with playing the waiting game all the time. However, I have now received an appointment date, so hopefully, I'll be able to update you all in my next blog... Lucy X