June 7, 2017 at 10:45 am #149979Advice welcome
I almost feel a bit of a fraud here as we do not yet have a diagnosis but I’m kind of stuck as to who to speak to for advice so I’m hoping someone could help.
My son (now 13) has always struggled with physical activities, never been able sporty, could never get the momentum to keep pedalling a bike, struggled with stairs etc. I just thought he was a ‘lazier’ child.
About 41/2 years ago he started complaining of extreme pain in his legs and them going ‘jelly like’ after walking for about 10-15 minutes – I’m ashamed to say, I didn’t take a great deal of notice – he’d been diagnosed with hypermobile joints and tight hamstrings and I just thought he was ‘nagging’. Then when he started secondary school almost 3 years ago, and had to walk about a mile each way, he really started having problems, his legs started off with hurting, then going numb and finally giving way beneath him initially after around 10 minutes on them – this then became the norm after approx. 1.25 metres. After a short rest, the feeling returns, sometimes with pain, and he can continue a short distance again before it happens again. He was having to drag himself up flights of stairs also and his legs would just go beneath him for no reason, with no warning pain. I must point out that, as a non driver, although he has never been a sporty child, he has always had to walk everywhere – we live in quite a rural area and without a car he’s had to always just walk.
The Drs were dallying in, so, in desperation I sought out a hypermobility specialist and paid privately for him to see him – he was diagnosed with ehlers danlos syndrome and, smugly, along I went to the GP, diagnosis in hand, demanding the physio the dr had suggested.
This triggered blood tests (finally) which I happily accepted, knowing full well they would find nothing – he had eds which doesn’t show up in clinical tests! Only they did – they called me to say his CK levels were at 3000 and asked if he’d done excessive exercise (he hadn’t). They then sent him for EMG tests which came back normal.
In this time, he saw the physio who confirmed that he did indeed have extremely mobile joints, but also incredibly weak muscles. He also had a period where his legs just completely gave way beneath him and he could bare no weight at all for 5 days – totally out of the blue.
The neuro saw him, did some basic muscle strength tests and decided he needs a muscle mri and biopsy and requested a further CK tests. Despite the paed having told us that they were looking at muscular dystrophy, the neuro said his CK levels, although high, were not high enough for what they were expecting- the day after seeing him, he had another period of non weight baring abilty – this time lasting for 6 days – and the CK test was performed during this period – again coming back with raised levels.
My son can just about move around in the home independently, he has a ground floor bedroom to avoid using the stairs and school have changed his timetable so all lessons are now on lower floors. He has to use crutches for outside the home so he has some support when his legs go and has a wheelchair for longer trips.
Does anyone else experience something similar to this? Is CK level 3000 too low to be anything too worrying? Can you get ‘flare ups’ of md which would explain these periods of total weakness in his legs? Any advice is greatly receieved.
Thank you so much for reading xnikmumof4ParticipantPosts: 0Joined: 07/06/2017June 7, 2017 at 11:55 am #149980Reply To: Advice welcome
Hello and welcome to the forum. Many thanks for giving us such a comprehensive history of your son’s condition(s). AS you are now deiscovering it can take quite a while and a lot of pressure to get the correct diagnosis and thus the correct help and support for him, sadly this is not unusual for many of us here. Clearly you are now in the expert hands of a neurologist who is quite righlty undertaking some more tests to help him understadn the situation.
I am sure there are others on here who have experienced these circumstances and that they will be responding shortly. In the meantime please keep us informed of any developments. May I also ask that you do not call yourself a fraud. You are like any other parent with a child with health problems, you are desperate to find help and support. We will do our best to help if we can.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015June 8, 2017 at 11:59 am #150011Reply To: Advice welcome
After over thrity years working in clinical practice I recognise that people like you who can give such a long and detailed history, are wonderful. SO often I would get half a story, or no story at all. The more information that can be given the better the chance of targetting the help correctly.
Keep it up!
You asked about flare ups. With my condition, FHSD, I do get them, in fact I am having one now. My legs are very weak and painful. At times they feel hollow. I know for me it can be brought on by trying to do too much with my brain writing instructiions my body cannot follow any more. I know what happens, and I expect these things and so I plan for them and make mental notes about them in the hope it will help the professionals and myself treat me more effectively. Thats another reason you should not apologise for watching and noting details. You may be able to find patterns.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015
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