I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

Viewing 12 posts - 1 through 12 (of 12 total)
  • #176339
    I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Hey everyone, this is my first time posting and my physical therapist suggested seeing if anyone had a similar story to mine so here I am.

    I am 20 years old, and I was diagnosed with myotonic muscular dystrophy 3 years ago as a junior in high school. My original EMG findings showed consistency with a diagnosis of myopathy. Genetic testing was done on me, where they found a mutation in the CLCN1 gene. Because of this, they said I myotonic dystrophy, as opposed to myopathic dystrophy. We were a little confused, since my main symptom is muscle weakness and instability- which has ultimately resulted in dislocated bones in almost every joint, my back to develop significant scoliosis, etc. however, they explained that since myotonic and myopathic were sister diseases, having the myotonic gene in my case was explained by myotonic dystrophy(rigidity) having some symptoms of myopathy (weakness) in more severe cases.

    Fast forward to last week, I finally had my MD appointment with my new adult muscular dystrophy doctor, I was transitioning from pediatric. I had been waiting for this appointment for 8 months. Long story short, this new doctor (different than who I thought I would be seeing) told me that I had been misdiagnosed. The CLCN1 gene mutation coded for myotonia congenita, not myotonic muscular dystrophy. They didn’t even test for the gene myotonic dystrophy is associated with. They said the error in diagnosis was “just a transcription error” though how the obscene amount of doctors I see every year for the last 3 years didn’t manage to catch this pretty important mistake is beyond me.

    This new diagnosis doesn’t make sense to me, or my physical therapists. Myotonia congenita is almost solely rigid muscles. While my hands and eyes have evidence of that, my primary symptom is weakness like I mentioned before. I even am now having heart symptoms (it’s incredibly slow, 45 bpm + dizziness and nausea) which would also be consistent with myotonic dystrophy, but now since I don’t have that, it’s unexplained. I’m just confused I guess, has anyone heard of my weakness symptoms with bone dislocations and instability, as well as heart symptoms in anyone with myotonia congenita? This whole thing still isn’t adding up. I also took a medicine supposed to treat the new diagnosis per my new doctor and it didn’t work. It’s also important to note that while I have a known mutation on the CLCN1 gene, it’s still a variant that has pretty much never been seen before, in the first of my kind. While that could explain some differences, it shouldn’t be that much.
    Thanks for any help at all, I’m just lost and confused with all of this. Everything I knew for the past 3 years just kind of disappeared.

    jennamiladin
    Participant
    Posts: 0
    Joined: 16/03/2019
    #176343
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Hi ya and :welcome:

    Although I don’t know a great deal about the conditions you mention, I can totally understand your confusion. I know of one other member with Myotonia Congenita. Definitely keep checking back to see if anything can shed some light on your diagnosis.

    Glad you found us!

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #176348
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    echoing Sar78 I dont know anything about the conditions you report. But in my experience ‘Myopthy” is broad general term they use to say. ‘they have a muscle thing’ “showing weakness’ it can take time even allowing for a genetic testing to properly see what the conditions characteristic will be for an individual.

    this term Myopothy. weakness and myopothy. failure to thrive, weakness and myoptohy are all terms dotted about my medical history. wasnt till modern testing I was finally diagnosed. with the Condition Rigid Spine. SEPN1. now this term also confused. as for most of my life I was classed as floppy. lacking motor control rather than stiff/ rigid. In most recent years I have progressed to presenting rigid motorskills and posture.

    """""""What doesn't kill you makes you stronger""""""

    Cat (Mod) Cat (Mod)
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #176648
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    It can be incredibly complex! I’m not an expert on the conditions you’ve mentioned but I understand from my own experience where you’re coming from. I’ve been misdiagnosed 3 times now and each time I’m increasingly more confused how they get to the conclusion in the first place.

    I’m 23 now and I’ve been under investigation under a Specialist Neuromuscular Consultant since I was 3 years old (20 years). In that time I’ve been tested and diagnosed with Duchenne Muscular Dystrophy; Phosphoglycerate Kinase Deficiency and Phosphorylase Kinase Deficiency and each one is different when you look into it and each one has a different potential prognosis – some worse than others. But each time I’ve received my diagnosis or been told that they’re 99% certain of a condition, I’ve had another test which somehow disproves or creates a cloud of doubt on the diagnoses. I’ve even been sent for tests for things that I have later found out the clinicians knew I didn’t have to begin with e.g. nerve studies even though they already knew I don’t have a problem with my nerves – again, extremely frustrating! They just wanted to “rule stuff out” whatever that actually means?! After all that I’m left having to tell people I have a generic label of “Metabolic Myopathy” and I’m still none the wiser 20 years later. It is disheartening, confusing and frustrating and I know this probably doesn’t help your confusion or frustration you must be feeling but I do appreciate your position. Sometimes you just want clarity and a way of understanding the medical mumbo jumbo and the thought process of the Specialists! :yes:

    J4KANOR1
    Participant
    Posts: 0
    Joined: 28/03/2019
    #176662
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    I think this illustrates clearly the problems that we, as patients, face. Being able to get clarity over out symptoms and thus diagnosis. Having worked on the other side for over thirty years I have to say that often there are problems there too, especially in rare conditions such as ours. When you are presented with a patient in a clinic a number of things happen. Histories are taken. Can you guarantee that they are not only accurate but complete. Can the tests you want/need to be done to help with diagnosis be undertaken not just quickly, but often at all (many hospitals put limits on what can and cannot be tested for). Can those test also be performed accurately and reported on accurately? Does the person reporting on the tests have the necessary experience to report on them? When all of the tests, histories, reports and other things come back to the consultant to make a diagnosis do they actually arrive with the consultant or a junior? Last but by no means least, the consultant/doctor making the diagnosis has got to make that diagnosis not just with the best interests of the patient in mind, but also with the best interests of the Trust in mind, and his own best interests too. I saw over the years the change from doctors doing their best to help patients driven to hedging their bets with out increasingly litigious culture. To commit to a firm diagnosis means a 100% clarity on that diagnosis otherwise the patient may sue them. If they are not 100% committed, then they will always have to express some doubt and wait for science to help later on down the line.
    Please try not to blame the clinician for doing their best as they all do, under very difficult circumstances, circumstances that we, as patients are not always aware of. Clarity is probably something that clinicians can rarely give you with that sort of certainty. We all want to know what it is we have got. We can call it something, look it up, swap stories understand it better. it is important to us all to know, and many would feel it is our right to know. If we do not know how can we treat it? In our case of course the treatment is for the symptoms not the condition. We us pain killers or walking aids, we cannot, though all wold wish to, take a pill and be cured. But may I also leave you with one thought. it is a thought I tried many years to persuade my colleagues to accept but never could, that we could have more than one condition at a time, and that can really mess up your diagnosis. Cleverer people than I may be able to tell me if we can have more than one version of MD at a time, personally I believe it is possible.
    I hope this description gives you, if nothing else, food for thought, and for those just starting the process, a little nudge into making your history as clear and as detailed as possible.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #176680
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    I do agree with everything you’re saying Mike.

    The simple fact of the matter is as human beings in general, we only know and understand the functions of a fraction of our enzymes and genomic data. Therefore, in cases such as MD which are caused by various faults in our genomic code, it is difficult to pin point an exact cause of a condition and give a name to it. Not only that but given this lack of “complete knowledge”, clinicians and specialists will have a hard task of understanding something themselves that hasn’t yet been formally identified by medical science. Add to that the nature of keeping patient records and enduring upmost accuracy etc like you’ve mentioned above, just complicates things on an even greater level especially for those patients which see various specialists in various geographically locations. It’s all this combined and the expertise and competency of the clinician themselves plus the data they have about each patient which can cause huge problems for patients. I’ve seen many Specialists in the past and it hasn’t been uncommon for me to be told something totally different by each clinician I’ve seen – which I can only base on the fact that for conditions such as MD which can be increidibly difficult to diagnose and manage is because they want to ensure the patients well-being but have to work from gut instict and experience to gauge their actions. But this doesn’t mean that things are accurate because in my experience, diagnoses and “treatment” hasn’t ever seemed to work out and ensuring that my medical records are accurately past between different trusts and practices is just beyond a joke and causes quite a lot of grief for both patients and their specialists – although that’s the administrative side of care and not the clinicians fault.

    Irrespective of diagnosis, I do believe clinicians should show a little bit more care and understanding of the person behind the diagnosis which is something I’ve not always experienced. For example, I was referred to a Senior Specialist Consultant at a Hospital nearly 50 miles away from where I live. He ordered that I have an EMG but as there were 2 parts to the test he wanted doing and the clinic at the time hadn’t got the capacity to start the tests on the day he arranged for 2 separate appointments for me to travel back to the Hospital to have the 2 parts of the EMG done over 2 separate appointments which I happily accepted under the belief it might help with my care. I went to both appointments and had the tests which weren’t nice but not the worst thing I’ve ever had done. That was 3 years ago now! Still to this day I have never had the results of those tests as “unfortunately they’ve been lost” and I’ve never seen the Specialist I went to see ever again. To quote another clinician I’ve seen more recently “the specialist you saw is extremely highly skilled but also like the Pope and very difficult to get in contact with even as a doctor”. And it’s been left at that! Not only do I have a Metabolic Myopathy but I also have a diagnoses of Chronic Fatigue Syndrome (CFS/ME) and travel is something which physically exerts me so travelling to a Hospital nearly 50 miles away three times and never to get anything back is just not acceptable. I also juggled all this working full-time so I’d taken time out of work and increased the amount of physical stress on myself to do something I thought was going to benefit my health and actually all it did was make me feel fairly unwell, stressed and highly frustrated and confused. And it’s been the lack of care or understanding of what you have to push yourself through sometimes, thinking it’s for your benefit, when in fact it proves nothing or is ignored entirely which I find is wrong and incredibly frustrating! I can name many other similar personal examples too and I’m sure I’m not the only person which has had similar experiences in the past.

    So no, clinicians are not to blame for not being able to provide clarity or a “magic pill” to help or cure us. And in many ways, they all deserve a HUGE amount of credit and thanks for the support they do provide given the sometimes lacking information and relevant resources they have available to help improve our lives. And I’m personally truly grateful for every ounce of support I’ve ever had over the course of my life and continue to receive and I wish I could give something back. But then sometimes I do feel that Specialists only see the “condition” and not the person underneath or their circumstance and capabilities (whether physical, emotional or financial etc) and that’s the problem. If patients can’t have clarity or a diagnoses, at least see us as more than a person with a rare disease and understand and support patient frustrations and confusions rather than just ignoring the confusion and carrying on with blind patient testing – as I have experienced personally many times.

    J4KANOR1
    Participant
    Posts: 0
    Joined: 28/03/2019
    #176764
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Hello Jenna,
    Sar78 asked me to respond to your post as I also have Myotonia Congenita. (I used to post on this forum under another name but I have forgotten my login details and changed computers so I have registered again.)

    Myotonia Congenita is a mutation that occurs in CLCN1 gene as you posted. There are two types currently recognised, Thompsen’s and Becker’s. I have the latter and it sounds to me that you do to. One of the symptoms of Becker’s is transient weakness of the affected muscles. This is most notable in the limbs. Becker’s MC also causes muscle stiffness, particularly following sudden movement after rest, this is a symptom that it shares with Thomsens.

    For the past few years I have taken medication to help alleviate the symptoms. I still have them, but not as bad as previously. Unfortunately, MC is a condition that is not uniform, that is, individuals report a variety of symptoms to varying degrees of severity. Mine are quite severe but members of my family had it without even noticing. Some people suffer pronounced muscle weakness whereas others hardly do at all. Also, the amount of muscle cramps and seizures varies as well. This annoying characteristic of MC (both variants) makes it notoriously difficult to diagnose. I know of people who did not get a correct diagnosis until they were in the 50’s.

    I am happy to discuss this subject further with you if you wish. Please either reply to this post or message me.

    I'm in the black, can't see or be seen!

    Peter C Whitaker Peter C Whitaker
    Participant
    Posts: 0
    Joined: 03/04/2019
    #176780
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Your thoughts about such poor treatment are entirely justified, such things should never have been countenanced, especially as they must have been aware of your potential diagnosis let alone your ME. Frankly it is one of the reasons I am happy not to work for the NHS anymore, as indeed many of my colleagues. Patients are becoming numbers and a set of boxes to be ticked off to meet budget constraints. Your thoughts about travelling between different Trusts ( a misnomer if ever I hear one) are or should be a real concern for everyone. I also face long journeys to see a specialist. Tomorrow I travel 150 mile round trip for physio. My neurologist, when I had one, is a sixty mile round trip, for that reason and when he said “there is nothing I can do for you”, made me cancel any further visits.
    I would so wish, as I am sure many do, that we could have specialist MD centres throughout the country which we could go to in the firm knowledge that they would understand and know what we are facing. I also have a dream of winning the lottery which probably has more chance of coming to fruition and I don’t play it!
    Where we both agree though is that the clinical staff whom we come into contact with are for the most part knowledgeable and dedicated people who wan to help us deal with our problems.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #176952
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Hey Peter,
    Thank you so much for making another account and replying, I really appreciate the insight. I guess it’s not just me that doesn’t think the symptoms don’t match, but the new doctor who re-diagnosed me and my physical therapists. The new doctor told us that he doesn’t know why my muscles are so weak, because he said that’s not really apart of MC. When my mom and I looked into it more after the appointment, we saw transient weakness as you mentioned, but my weakness has never been transient, it is always very consistent and very pronounced. It’s also not just in my limbs, but also in my back. And this all may be due to variability as you mentioned. My physical therapists have also worked with MC, and said that I did not match to anything they have seen or heard of for MC, which again, could be due to the variability you mentioned. I should also note that the new doctor mentioned that the EMG findings had as previously discussed shown muscle weakness and deterioration, but also mentioned that the EMG findings weren’t consistent with MC. Maybe the variability in MC is so significant like you mentioned that the gene mutation is enough to explain everything, or maybe as Mike mentioned earlier in this thread something else could be going on for me. My physical therapists seem to think that the different variant of my mutation, in addition to a mitochondrial mutation that is completely new and unidentified makes it so that my case is really new and different, and could be something we don’t have a definition or identification for yet. Another question- you haven’t heard of heart problems with MC right? The doctor said that my heart problems are not related to the MC although they would have been explained by the previous diagnosis. During the initial diagnosis after the gene testing, they said they weren’t sure what the mitochondrial mutation did because they’ve never seen it before, and I recently read a few articles saying that mitochondrial mutations are often known to cause muscle weakness and heart problems. I don’t know if its possible that this weird case is from having MC and this mutation that explains the other stuff going on, or if I’m just desperately trying to draw conclusions that make sense.
    Thanks again,
    Jenna

    jennamiladin
    Participant
    Posts: 0
    Joined: 16/03/2019
    #176959
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Hi Jenna,

    So sorry to read your account of your condition. I suppose that there is a human tendency to look for single answers even in complex problems. I too have a secondary condition, Spina Bifida, that has caused my feet to become deformed and require extensive surgery. The combination of Spina Bifida and Becker’s MC caused confusion for many years. I think that doctors were frequently looking for one explanation for a group of symptoms caused by two entirely different conditions. This might also be so in your case.

    I have noted previously that people with MC often seem to blame if for unrelated problems. I can understand why, but it is not always helpful. The fact is that the human body is so complicated, and some of us so unfortunate, that we can suffer two or more conditions at the same time. I am not a doctor, just someone very experienced in dealing with a rare medical problem, but it sounds to me that you are on the right track. I think that you do have a form of MC but that the muscle weakness and deterioration is caused by something else and that this condition may be either dominant or more aggressive.

    I'm in the black, can't see or be seen!

    Peter C Whitaker Peter C Whitaker
    Participant
    Posts: 0
    Joined: 03/04/2019
    #176961
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Peter,
    I am sorry to hear you suffer from multiple conditions. In my experience thus far, it seems that like in your case, they are trying to find one cause that accounts for everything, whether or not that may be the case. Not to speak poorly about any doctors, but the geneticist who misdiagnosed me seems to be backtracking quickly and while he now agrees with the new doctor who told me I was misdiagnosed about the MC, they don’t agree on what is and isn’t explained by it. The new doctor says all of my symptoms are not caused by the MC like the heart problems, muscle weakness, and dislocations while the geneticist says the phenotype is completely explained by the genotype. Again, this is not to talk badly about any doctors, but rather to explain why this is particularly confusing. Though overall, the consensus is that MC doesn’t explain everything. Thank you so much for your valuable insight, it makes me a little more comforted knowing that this could be a possibility, rather than me just grasping at straws.
    I appreciate it!
    Jenna

    jennamiladin
    Participant
    Posts: 0
    Joined: 16/03/2019
    #176987
    Reply To: I was misdiagnosed for 3 years, and now my new diagnosis doesn't make sense

    Jenna,

    I disagree with the geneticist in that classic MC symptoms do not include the heart, prolonged muscle weakness, or dislocations. Typically, MC affects voluntary muscles only. It causes stiffness through an impairment of the chloride channels in the muscle cells, which inhibits the muscles ability to relax after contraction. Muscle cramps, spasms, and seizures are common symptoms. Muscle enlargement is common as they have to work harder to do normal things. This does not correspond with the muscle weakness that you describe. As I mentioned previously, transient muscle weakness is a feature of Becker’s MC, which is what I have, but it is only temporary.

    Although I have never met another person with MC I have spoken to many since the advent of the internet. I used to feel lost and confused as a result of having MC, being able to talk to others has made a great difference and I have acquired not only a lot of information but also some important confirmation about what I believed about this condition. As a group, MC sufferers know that they are generally better informed than any doctor, most of whom have a limited experience of MC, if any at all. The text books that they refer to are largely obsolete or even incorrect, many doctors state that MC is not painful for example, and yet I suffer from cramp almost every day. Anyone who has had cramp would not accept that it is not painful.
    Sadly, I think that you do have MC but that you also have a more debilitating second condition. I hope that you can get some answers soon.

    I'm in the black, can't see or be seen!

    Peter C Whitaker Peter C Whitaker
    Participant
    Posts: 0
    Joined: 03/04/2019
Viewing 12 posts - 1 through 12 (of 12 total)

You must be logged in to reply to this topic.

Keep in touch