What if we viewed lived experience as an asset? As an asset of professional, economic,…
Today I had a very successful hospital appointment at the National Hospital for Neurology and Neurosurgery with the neuromuscular team, seeing Dr Ros Quinlivan. The outcomes of the appointment could be crucial for myself and my family, and turn everything we think we know about my conditions on their head. It was a much-needed appointment, and I couldn’t have asked for more. We spent almost two hours in the appointment with Dr Quinlivan and she was extremely thorough, going right back to my birth and all through my life to understand every problem at every stage of my life. She was amazing. I know this isn’t a typical blog but I felt the easiest thing was to put it on here because I know my followers will find it interesting as it sheds a whole new light on my conditions. It could explain why I don’t fit the “EDS Hypermobility” box very well and why I have deteriorated so rapidly throughout my life, especially so over the last 9 years, and incredibly so in the last 5 years, and why I have so many complications that don’t all add up, too. It is a game-changer in terms of my conditions, not because it will be able to lead to a cure or change the management of my conditions much if at all, but because it could explain a lot of why’s as to how I got to this point, this complex, why I’m life-limited and why I am as severely affected as I am. So here is the outcome of today’s appointment and what it means for me.
As I said, Dr Quinlivan went right back to the start and back to basics. We combed through my life up to this point and she thoroughly examined me. She even did some research whilst I was in the appointment and this led to her asking a few more questions and doing other investigations too. She was intrigued by the way my condition has progressed and to be honest totally understood why my consultants are at a loss as to what to do, because they don’t understand why things are the way they are. Like why I have progressed so much over my life, why my condition is degenerative when EDS isn’t, why I have so many unexplained and odd things going on, why so many bodily systems are affected and in the way they are affected, why my body is unable to maintain homeostasis (such as needing 5 litres IV fluid every day and yet I can still be dehydrated), why my TPN can’t be off longer than 3 hours, why some of my muscles are completely undeveloped and others are being eaten away, why sensation is going, why I am losing function despite doing more now than I ever have since becoming ill, why I am deteriorating and why we never seem to be able to get on top of my conditions – so many if’s, why’s and how’s that aren’t explained by my current diagnoses.
Dr Quinlivan was truly wonderful. She gave me 2 hours of her time today and is dedicated to finding out why – if we can, because we might never find out exactly why, or I might have a SWAN (syndrome without a name), but at least she is dedicated to trying and to getting me all the tests and care I need to understand and manage my condition. First off she went through the bloods they took last time, and found my carnitine level is very low. This is a sign of a metabolic or mitochondrial disorder, and I may need supplementation to raise the levels as low levels of carnitine must be corrected. Partly linked to this is the fact that my skin complexion is darker than my families – which can be linked to deficiencies in carnitine. In the New Year I will be admitted to the Neuromuscular Complex Care Centre for a 3 day (2 night) stay to have a whole host of tests to try and find the cause of my problems. I will be having tests including hourly cortisol monitoring, 24 hour blood pressure monitoring, a sleep study, lung function tests, a single fibre EMG, an echocardiogram, bloods, catecholamine levels monitored and other things I have probably forgotten. Also whilst I am in, they will get the neurogastroenterologist Dr Emmanuel to pop in and see what he thinks – I already see Professor Aziz but they would like Dr Emmanuel’s thoughts – as well as seeing Dr Robin Lachmann whilst I am in there who is a world expert in dysautonomia and metabolic/neuromuscular disorders so his input will be very much welcomed. I will literally have every test they need to be done whilst inpatient, but once we have the results of the tests from my NMCCC admission, then they will decide whether to proceed with the muscle biopsy and skin biopsy – just in case they get a definitive diagnosis whilst I am admitted, they will wait for those results before proceeding with the biopsies. They are also going to refer me to the 100,000 Genomes Project (click here to read more) which is a project to sequence the genomes of people and two close relatives to try and find the cause of rare diseases, some cancers and undiagnosed disorders, trying to find the underlying basis by sequencing their whole genome – basically like looking for one spelling mistake in a library full of books. The results could take 5 or more years to come through, or nothing be found, but it’s important that cases like mine be referred to try and find out why as there might be other patients like me who have the same disorder/mutation and they would then know more about what to look for. So it could not only benefit me by giving me a definitive cause of my condition(s), but also help others.
My condition will be metabolic/mitochondrial, myasthenic or could be a rare form of dysautonomia (not POTS). They will cover all bases and check for disorders of all three, and will do everything they can to find out what and why. There were lots of things flagged up today, a lot of issues poured over, and it was very positive. I feel very happy that things are being looked into and we could potentially come away with a reason for why I am like I am. In fact, Dr Quinlivan wonders whether I even have Ehlers-Danlos Syndrome at all. Hypermobility and other symptoms of EDS can be very common in certain neuromuscular disorders, hence it is easy for the latter to be diagnosed as EDS when it isn’t. Or I could have EDS as well as a neuromuscular/metabolic/mitochondrial/myasthenic condition. We won’t really know, but Dr Quinlivan will do everything she can to find out what’s going on and why. All we know is that my condition is not explained by EDS, my complications don’t fit, I have a degenerative conditions which EDS isn’t, and I am life-limited, which also EDS is not (outside vascular EDS). It may explain why I have autonomic issues outside the definition of POTS (which tends to be labelled Autonomic Neuropathy on my notes alongside POTS), Chronic Intestinal Pseudo Obstruction (as well as dysphagia and silent reflux) which has lead to complete, irreversible intestinal failure, bladder failure, metabolic issues, restrictive lung disease, progressive muscle atrophy, eye muscles problems, some completely undeveloped muscles, deformities, Kyphoscoliosis, Osteoporosis, neurological problems and so on, why I was affected right from birth with signs of this neuromuscular issue and why I am like I am.
Finding out about these conditions won’t change my treatment much, if at all. There is no cure. It will just give us a reason as to what’s going on and why – possibly, if we can find the cause – but there may be different ways of managing it, we won’t know until we find out what’s going on (if we do). I just feel so positive about finding out what’s going on, and I hope, through the 100,000 Genomes Project, it might help others, too. So it was a really positive appointment and you can understand what a game-changer it could be. I likely have EDS as well as a neuromuscular disorder, but so much of my problems and symptoms have been misdiagnosed. I don’t blame my doctors – as Dr Ros said, it can so easily be diagnosed as Ehlers-Danlos as it can mimic it to someone who isn’t looking for a neuromuscular disorder, and my doctors weren’t looking for an NMD because so much of my symptoms back then did point to EDS, if only we’d gone through my life like we did with Dr Ros in the same way, maybe it could’ve changed my diagnosis in the early days? I do feel like I have EDS, but so easily the hypermobility and signs of EDS could be symptoms of the neuromuscular disorder, rather than a EDS in its own right? I don’t know, and we won’t know unless a conclusive diagnosis is made, and we may never know for sure, but Dr Ros is doing all she can to find out, getting me seen by the experts in their fields and to have all the tests necessary to find out what’s going on and why. So I feel extremely positive after today, if a little overwhelmed as to what was said and all the possibilities and all the investigations I will need, but it’s a positive step and I am really excited at the possibility of finding out why I am like I am, if we can come to a definitive diagnosis, that is.
However after what I’ve said, you may be thinking, if it’s not going to change your outcome, you’ll still be TPN dependent, wheelchair bound, seriously ill and life-limited, there will still be no cure and it won’t change your management much, what is the point in finding out what and why? Well, knowing why you have something is important, especially to someone like me who needs to know the reason behind everything. However, one big driving force behind finding out why, is so that we can work out whether my sister’s future children could end up like me. I am terrified that I could have a hereditary condition, and whilst no-one in my family has what I have, potentially with a recessively inherited condition, Vicky could carry it and potentially she could give birth to children with the condition, whatever it may be. This absolutely terrifies me. I do not want my sister’s children to suffer like I do, I do not want Vicky to go through everything mum has gone through with her own children, I do not want this condition to afflict anyone other than me. Sure, even if we know the mutation/condition and its mode of inheritance, there might be no prenatal tests to see if Vicky’s children were to have the condition; but at least they could have genetic counselling and know their risks. So whilst I want to know why and find out what condition I have, I also need to do this for Vicky and her future children. I don’t want any niece(s) or nephew(s) to end up like me. That would break my heart. I just need to know.
So this is my update from today’s appointment and I know some of you may find this very interesting. I’m still processing it but feel very positive about the possibility of knowing what I have wrong and why. I think I still have EDS, but there’s definitely something more going on – and we’re on the right path to finding out why.