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.

Mike

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.

Mike

Mate iv bee waiting a year. Iv had MRI brain, spine, lower spine and legs. Iv had genetics taken looking at my ABCD 1 gene, iv had nerve conduction studies and a lumbar puncture next week. The neurologist at Sheffield hallamshire hospital are pretty clueless iv been told it could have been HSP but now he thinks it could be DM. The doctor who did the nerve conduction studies says it is neurological because my nerves were not taking in the electric shocks despite been on full power. But theres still more waiting. Im also going in for surgery to extend my anklees tendons.
Its taken 1 year to manage to get my PIP after a struggle.
Its crazy only a year ago i was a asbestos operative now im disabled.
Good luck to everyone

Typo above I meant ECG at doctors surgery with nurse or better still a echocardiogram which is basically a ultrasound and also measures heart wall thickness, pressure and can tell any scaring ect ect I had both

You mentioned this all came on a year ago, before this was you totally fine?

Hope all works out as best it can