Awaiting diagnosis. Ck 552

Hello and welcome Ann. I have FHSD, which was properly diagnosed when I was a little younger than yourself. It was recognised in my son first and as a consequence my blood was sent off for genetic testing. It takes around three months to get the answer back, but it was quite definitive, and did help becasue I had a name to put to the condition and the problems. However, the name , however useful, does not tell you how YOU will progress with the condition, nor indeed will it tell you what help and support you wil get. I ahve found that many, and I do mean many, non neuro medics do not know what MD is let alone its variants as I am always asked when I see them “What is that?”.
But as Taungfox has said it is the help and the suport of the neuro team, and probably the regiional advisors who are the ones that can give you most help. All of us here will certainly do what we can, and Mr Google can also help by asking the correct questions and being sensible in interpreting the answers. As with many medical things on there they can sometimes do more harm than good.
Please keep watching your symptoms and become knowledgeable about them and how they might change udner different circumstances, such in depth knowledge will be invaluable to those who try to help you. Whilst you may struggle to exercise now as you once did, it does not mean you should stop trying. It is a significant chamge for you, as with others, and for many can be quite upsetting. I know it was for me. But please view it as a change in direction and not the end of the road. Make sure you get established with soem physios who know about muscular dystrophy, and get regular physiotherapy, not just one session and a leaflet after that. These things you can do before you get the diagnosis. You know how it is affecting you already no matter what it is called. Take steps now to mitigate its affects as best you can and keep looking for the positives and what you CAN do and not what you cannot.
On a less generic not are you now getting any pain, even at rest, in the affected parts of your body? If so you need to seek advice on that early, so it can be kept under control.

Mike

If indeed you are proven to have FHSD then it is something you have from birth as a fault in your genetic makeup, thus on that basis it is only children who get it. But children grow up, and in my case, the FHSD arrived when I was around fifty, as may be the case with you. The simple GP statement gives an indicator of the struggle that we all face about getting knowledge of MD in general out there. If you pain is controlled by the amytriptylline then I am really pleased for you. I would caution that not only can the the pain change, you can become adapted to the meds to control it. Thus please be aware that there is a whole plethora of medications that can help with pain with varying degrees of success.
Your lack of standing though does need to be addressed, as I am sure the neuro people have told you, so that you can keep as much muscle tone in your legs as possible as well as keeping the circulation going. Please get referred to a specialist neuro centre physiotherapy clinic to help you with this. The one I go to in Cheshire have been so supportive and helpful in truly keeping me on my feet. Getting one of the little pedal exercise machines (around £12) can help here. Mine is powered, (£75 from ebay), normally a little over £200, if you do not have the strength to push the pedals. As to whether your symptoms are normal, there are so many variants in MD it is very hard to determine what is normal except in the very broadest of brush strokes. My pain for example is in every partr of my body except for teh right side of my face. It is normal for me, but may not be for you.
CK levels can be understood a little more by some research. This link https://www.mda.org/quest/article/simply-stated-the-creatine-kinase-test will be a good starting point.
All that said please never forget that your condition, whatever its eventual name, is one that will change and fluctuate. Please be aware of any changes you may perceive, as they will most assuredly help the neuro team looking after oyu.

Mike

I agree with genetic testing. With a Constellation of MD diseases it can be narrowed down. The symptoms seem familiar with what I went through. Struggling with stairs, being in extreme pain, and having elevated CK levels, loosing the ability to smile without looking creepy. I always hate it when people project a palette of emotion on the blank canvas of my face. Or, they think I am rude. My CK has been elevating over the years, I am 44, 45 in March. It ended up being the rarest form, OPMD. Genetic testing is the key to finding the nasty bugger, and then trying to slow it down, when I don’t like slowing down.