February 4, 2020 at 11:45 am #185160Awaiting Test Results
Oh where to start! Thought I’d reach out here to stop me from driving myself crazy. Will keep it brief for now. I have concerns about perceived muscle weakness particularly in my arms, especially as there is a family history. Had an EMG two months ago after neurologist referred despite claiming he could tell I was fine on examination. I’ve been chasing these results with no luck and have now actually contacted PALS because I was refused a copy of the full EMG report by the consultant’s secretary. Apparently an interpretation of the results will be sent whenever. I keep worrying about having a chronic, progressive illness and noticing the effect more and more in daily life and alternatively stressing that I am nuts and just making it all up. Maybe joining this forum is the first step in acknowledging this as yet unconfirmed diagnosis but of course I don’t actually want either scenario to be true. I need some clarity and I know the EMG results would just be the beginning of the diagnostic journey but the wait is hell and making me obsess more.February 4, 2020 at 12:43 pm #185162Reply To: Awaiting Test Results
Hello and welcome. It is so sad to hear that you are experiencing what many of us have, a delay in getting the results of tests. I have commented often in this forum that to get a true differential diagnosis ( an exact understanding of your condition) will never be quick or easy if the consultant is being careful . He/she has to be careful as a wrong diagnosis can cause all sorts of problems, not just for the patient but also for the consultant. On top of that many of the types of MD that are found often have very faint or fleeting symptoms initially. For example I had no obvious clue to my FHSD until my son was diagnosed, and then hindsight kicked in! Nevertheless that does not help you, and increases the stress in your own life. Again many in these pages have reported this.
I would suggest that you contact your GP in the first instance to see if the consultant has made contact with them and what was the outcome. Clearly contacting PALS is very appropriate (I have done just the same thing this week about another condition I have just been blessed with). In the end it is your consultant who will be able to help you understand what is going on and I do think you will need to ask PALS to clarify what the hold up is, and perhaps, if necessary, seek help elsewhere if you feel the wait will be unacceptable.
So many love songs, so little love.February 4, 2020 at 9:32 pm #185183Reply To: Awaiting Test Results
Thanks Mike for your reply and welcome. For some time now it’s like living these parallel lives: one where I am coming struggling to terms with a serious health condition that will leave me disabled and reliant on care, and another where I am apparently so messed up that I am convincingly conjuring up imagined physical difficulties in my mind. For now I ‘just’ really need to know whether what I am perceiving is real or not. Differential diagnosis would be an absolute pain given geneticists no longer agree on whether my dad actually has LGMD2A or not, and also looking at my brother who’s been having a ton of tests and scans over the past year and again while he has confirmed atrophy they cannot attribute a distinct condition or cause. So some uncertainty will remain, for now at least. Of course I would want to know what the future holds but then prognosis can vary quite a bit too. Uh… I am actually somewhat concerned the tests will be inconclusive or the consultant will dismiss any anomalies in the EMG as he was so certain I wasn’t affected by whatever this is that my brother and dad have got. I don’t think seeing anyone else will help at this point though as he’s apparently the guy to see for neuromuscular disorders around here.
Must be tough your son being affected. At what age did he and then you get diagnosed? I do hope at some point my family will get some answers about the underlying cause, also because my brother and I both have kiddos now too. Still, haven’t told my folks anything yet; they haven’t taken my brother’s news well so I didn’t want to worry them unnecessarily…
Anyhow, thanks for listening!February 5, 2020 at 3:52 pm #185190Reply To: Awaiting Test Results
My son was diagnosed around age 14 and I was diagnosed as a carrier. By the time I was 50 a few years later the MD had got its claws in me and changes were happening. So for me I had my diagnosis and went off to look it up on the internet as my doctor told me to do. Yes it helped having a name put to it, but now I rarely bother using FHSD, especially as its hard enough explaining MD. Indeed nowadays I concentrate on the symptoms and how they affect me rather than the actual name of the condition that caused them
I am sure that your consultant, like the overwhelming majority I have worked with or seen, will give you the proper truth and not one that may fit pre conceived ideas. It maybe that more tests will come and the final diagnosis may take months or even years. I understand that you, like me, have children, and your concern is not to pass whatever it may be along to them. Please may I make a suggestion which will be invaluable to your consultant and indeed to yourself. I would suggest you keep a diary. It need not be extensive, maybe just covering the aspects that you feel are affecting you. You will then have evidence of any changes, and over what sort of time which will be so helpful to your consultant and you in helping to discover what is going on. It gets rid of a human’s poor memory with a record of your condition. You will then be able to see more objectively what is going on with you life, and whether anything is going on there that you need to be concerned about. You begin to take ownership of your problem and that is a good first step. If the actual name takes some time you will know yourself what is going on and then perhaps attack it like many other of us have done by dealing with the symptoms by perhaps using physio or as with me using pain relief, or other methods that help you to keep the changes at bay.
So many love songs, so little love.February 7, 2020 at 9:52 am #185227Reply To: Awaiting Test Results
I think Mike’s suggestion of a diary is an excellent one. Glad you’ve found the forum. Keep in touch and I hope you get some answers soon.
A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015February 15, 2020 at 12:31 pm #185473Reply To: Awaiting Test Results
Thank you both; I really appreciate you taking the time to reply…
Thanks for sharing your story Mike. Indeed, the diary is a great idea and I started a Word document ‘symptom tracker’ as soon as I first read your message.
PALS have said they contacted the consultant to ask him to write to me with the results. As I didn’t seem to get anywhere with the consultant’s secretary, I contacted the one for the doctor who carried out the EMG. She helpfully pointed me in the direction of the hospital department dealing with Subject Access Requests so I have yesterday formally requested a copy of the EMG report but it can take a month to be processed. Later that day I received an appointment letter to see the consultant in late June. That sent me into a spin because the first secretary said I would just get a letter with the results and I would only get another appointment if there was a need. So it confirms my increasing impression that things just aren’t right with my body. Still I want clarity so I sent a letter in the post to the consultant yesterday, basically saying I am hoping to get feedback from the actual test results before this appointment. But also pointing out that as I am a EU citizen I may lose access to NHS care at the end of this year so if he was considering ordering any other tests, then a referral sooner rather than later might be worth considering. Hope he doesn’t feel offended but I do worry about running out of time and being stuck here with my British son but without eligibility for health or social care.
Having kids and hereditary conditions is I imagine complicated on different levels. I am still thinking about the possibility of having another child. My son has special needs so I know there would be a higher chance of any sibling also having neurodevelopmental difficulties. And by now I feel truly okay with having another say autistic child but MD feels different. Also the fact that my abilities to be a caregiver would become limited over time. And seeing just how much my dad struggles, well who would want that…
I am still wondering if I am just terribly unfit and paranoid. But then realising that I am struggling to brush my son’s teeth unless he stands right in front of me (so I don’t have to keep my arm outstretched), well it kind of speaks for itself really. But I feel unless I get this results letter I cannot begin to process all this. And while I am eagerly checking the post every day, I am shit scared of the day that letter actually comes.February 15, 2020 at 1:17 pm #185474Reply To: Awaiting Test Results
I am glad you are taking the diary approach. It will help. But you still have many worries, which is not unusual, but you do need to try and put them behind you. I would say first of all that waiting until June for an appointment does not sound like and urgent visit to me but a routine one. Being routine there is nothing to suggest then that there is a sinister problem affecting you at the moment and, being so long off, with no further tests organised, would suggest that the consultant is happy with what has been found already and can tell you what is going on. So it could all well be good news for you. No guarantees of course, but I would urge you to look at the other side of the coin too.
If you are going to get a copy of the EMG report then you will need someone to interpret it for you. Possibly your GP could help, but doing some research upfront will help you understand it a little more when it is being explained to you. Depending on what is printed out, it may be just a written report of the findings, or may be the values of the traces.
As for other children that is a highly personal decision and is of course full of many complicating factors. Clearly having a proper diagnosis can help you make that decision, if indeed what you have is a genetic one. I can only speak for myself here. My only child (out of seven) who has my condition is a credit to himself and his family. He has embraced FHSD, and is not limited by it, but has decided that he will never have children to make the passing on of the genes for MD stop with us. As an aside with your own son, you might try using an electric tooth brush, if he is old enough to have one, as it takes a lot of muscle effort problems away from you. You might not have to stand quite as close when using it with him.
I can understand your concerns about receiving the letter, but do be warned it may not tell you what you need to know. if it does, or the consultant does, say that you have an MD problem, remember it is not the end of the world, just the beginning of a new chapter in the book of life.You do not know if, or how quickly, it will progress. You cannot predict how it may affect you. I use that word “may” deliberately. I have had FHSD since birth of course, but it wasn’t until I was fifty that it began to affect me. My son is nearly forty and he still lives a perfectly normal life with little effect from the MD. You may be spurred on to becoming more healthy and fit, which will help to reduce any muscle changes. There are so many other positives that you can look upon, should MD be diagnosed, or even if not. Please also remember that are many of us here wh o are more than happy to help with support and advice. You are not alone.
So many love songs, so little love.
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