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hayley 1
Hiya just thought I'd see how you were getting on? I noticed in a post that you have heard from Pediatrician about Isaac and possibly some more tests. Hope it's not too much pf a shock for you. Do you know what they are going to test for yet? just wondering as Paul has been tested for loads so far including some of the muscular dystrophys I wonder whether your dr is thinking along the same lines.
Paul starting walking around a bit, he can walk holding my hand round the house and in the garden a bit, he falls very heavily though and we have to be very careful as his joints are so vulnerable but he is doing so well. he has taken a few little shuffle steps on his own too, he'll do it on the carpet bless him he must know its a bit safer hehe.
hope things are ok anyway.
Paul starting walking around a bit, he can walk holding my hand round the house and in the garden a bit, he falls very heavily though and we have to be very careful as his joints are so vulnerable but he is doing so well. he has taken a few little shuffle steps on his own too, he'll do it on the carpet bless him he must know its a bit safer hehe.
hope things are ok anyway.
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Fantastic news that Paul is starting to walk a bit now, it must be those new boots. He is obviously a smart cookie if he has figured out that it hurts less to fall on the carpet, Isaac falls very heavily too and has constant bruises on his knees, becuase he is quite big for his age (he is 98th centile for height and weight) he looks older than he is so I have started getting comments about him being to big to be in his puschair which is annoying, he is only 2 anyway and even if he was older, why do people think they have a right to comment.
I do the gower sign thingy, but only discovered that after searching for some info on Congenital myopathy online, there was this little moving drawing of a child getting up off the floor and I showed my husband and said who does this? and it was almost exactly like me.
Paul's had a biopsy but so far every test they have done has come back normal, I might be having one soon though so am hoping they'll be able to get some results from me.
we were seed by the paed until paul was a couple of months old then we were referred to a neurologist have they said they may do this with Isaac?
any sign of him getting regular physio, can't remember if i've asked you that already, with a lot of muscle conditions there is no cure or medication and it's all about continuing care, physio, occupational therapy etc, he should have access to this if they are at least looking into the diagnosis of a specific condition.
sounds like things are moving on though, hope you get some more news soon.
We are back at the paed on Thursday for more tests so I am preparing a huge list of questions I have ready as I always go in meaning to ask things and never remember.
We have just been away on holiday for a week and it was fantastic, I managed to spend a whole week not worrying about what he wasnt doing, for once I actually felt like a 'normal' Mummy )
Must admit I have started to ifnore the comments now I just give people that "what the hell has it got to do with you" look and they soon stop, Phils mum is the worst, she is forever telling me that Isaac is fat (which he isnt, the paed said he is the correct weight for his height) although she did visit before our holiday and managed to do the whole visit without commenting on his weight, although she excelled herself by saying "oh its a shame about his legs, he looks so normal" Thats becuase he is normal you stupid woman!!! Grrr mother in laws!
Glad you had a nice holiday, it really does do you good to get away from things.
We are very lucky here as we have Alder Hey Childrens hospital which has an amazing Neurology department. If I were you I'd opt for a childrens hospital wherever possible, they are just so different, I go to 'The Walton Centre' which is a specialist neurology centre for adults and it is amazing, but I wouldn't want to have to take Paul there. The childrens hospitals are just much friendlier for the kids.
I still have to write my questions down as I can never remember what I wanted to say and we've been going for ages now, it helps me to mentally prepare too. does the Dr know that your daughter and you also have problems? has he thought about referring you for some tests? is it something you'd be up for? My neurologist seems to think she will find out what's wrong through me first, however I must say Paul's Neuro thinks it will come from him first hehe, who knows.
It sounds like things are moving on for you anyway, I would just keep pestering your physio appt you never know, they might get fed up of you and just book you in. When is Isaac due to go to pre-school/nursery? maybe you could suggest that he needs to have established physio before he goes as he may need extra help while in school (Paul has a care plan drawn up so they know how to look after him properly at nursery)
good luck with your appt tomorrow I hope you get at least some of the answers ou need.
keep us posted it's good to hear from you and Isaac seems to be doing so well.
Take care
x
I have a huge list of questions and concerns to raise tomorrow all written down, I was a bit worried that they might think I was a nuerotic pain in the backside mother, but hey its my little boy and I want answers so I dont care if they do think that (which I'm sure they dont, Isaacs paed is lovely). He already goes to a day nursery 2 mornings a week as I am going back to college and I must admit they are fantastic with him, he has to keep his shoes on all the time so they make sure he does, they help him sit down on the floor for story time and help him up if he needs it, they even had a mini sports day the other week with sack races and bless him he was the only one who couldnt jump so one of the staff got in with him and did it with him so he didnt miss out. I think though that the problems will start when he goes to the pre school and then onto school as its more of an educational and more formal setting so they may not be as willing to help him out. I think I might just leave him where he is untill he starts school and hopefully we will have a better idea of what is wrong and what his needs are by then.
I have mentioned to the drs about my problems and also Megans, Megan is now having physio and even though since she was 2 I have been told she is hypermobile, the physio told me it is impossible to diagnose hypermobility in a child as all children are hypermobile to some degree, she did agree though that Megan has flexible joints and poor muscle tone so she has given her a load of excercises to do and we go back in 4 weeks. When I spoke to the dr about it, he said that was an unhelpful thing to say as yes all children are hypermobile to some degree, however Isaac definitely is excessively hypermobile so it is not impossible to diagnose, he also said that alot of the problems could be related to mine and Megans but he is an awful lot worse and struggles with so much more that he thinks there may be some other underlying cause.
I will let you know how it goes tomorrow, although I think it will be a few days at least until we get any results as the appointment is at 3pm and they are doing blood and urine tests.
Charlotte
Charlotte
Whilst he was at the paed I asked about a small hole he has at the side of his ear, he said it is an open valve which should have closed up before he was born, every now and then it leaks some sort of puss which is revolting, the dr did say it ws a simple thing to deal with as the plastic surgeons will just cut it out, they may do it now or they may decide to leave it untill he is a bit older. Why is nothing ever simple, every time I go to the hospital something else seems to come up, I did joke with the dr and tell him that I was going to work my way round every department in the hospital by the time he was 5! Oh well keeps me busy I guess and at the end of the day there are worse things that could be wrong. Let me know how Lydia's appointment goes xx
anyway I get what you're saying about kids having hypermobile joints, Paul's neuro said mine and paul's are not the worst he's seen but it can be a direct result of the muscles not being strong enought to keep the joints secure which is why I've always thought since I started chatting to you that it sounds so similar to my situation. I'm not trying to worry you or anything, my neurologist set my mind at ease by saying as I've managed ok through my life it seems non progressing or very slowly progressing and in her experience of these sorts of muscle problems shouldn't adversly affect me in later life or get much worse or anything.
I sympathise with you regards playground or playing in general, even my sisters somethimes tell me to chill out a bit if i ask them not to do something like try and lift him by the hands (he's very weak at the shoulder) i feel like saying back off you don't understand, i didn't go to standard mums and tots until he was much older as i was so consious of how different he was silly but just couldn't cope, we luckily had a secial needs nursery group wich is still a life saver now.
toby2000 nice to see you on here again I know we've spoken before, dont think you knew whether your baby had a CM at that time. sounds like she's doing well. I'm currently being tested for Myasthenia Gravis, not sure abut it but no one has said anything about testing our DNA yet, it's all byopsy and muscle testing at the moment not sure how its funded.
I think it's fab for us all to have each other to chat to, even if we're at different stages in the whole process, it can help so much to have someone living with similar issues so you don't feel competely alone.
keep in touch girls x
I know what you mean about other people not understanding, my sister is always trying to swing Isaac in the air by holding just his hands and even jokes about how I would explain a dislocated shoulder in a 2 year old at a and e. It is frustrating but its good to have people on here who understand how you feel. I read your other post about Paul walking, fantastic news you must be so proud xx
i think i'm now at the stage where i know there is an underlying problem, i know he isn't at the same stage as other kids his age, but as long as i take care of him physically and emotionally, he'll be fine, as long as he knows he's the best little boy and we focus on what he can do everything will be cool.
I think it would be nice to know only for my sake really, i know i have the same and as its been so long withought knowing it would be nice to have a specific diagnosis but hey ho maybe in 10 years
Finally I feel like I am actually getting somewhere with him and that I am able to do something to help, I just can't believe it has take this long to get someone to listen.
With Megan, she has just had another physio appopintment and the physio is so pleased with the improvement in her muscles that she has discharged her, I have to keep on with the excersizes and make sure that she keeps the strength there by keeping up with her swimming and things but its fantastic news, its amazing that 6 weeks of daily excersizes tailored to her needs has really helped, she has very little pain now and it is improving everyday. All in all things are going well.
Hope you ladies are all ok and your los are getting on well, fantastic news that they are walking now.
I'm really glad you had such a good assessment with Isaac, I absolutely love Paul's Physio she teaches me so much about how to handle Paul to make sure I am helping him develop and push himself too.
Isn't it amazing when you meet a professional that can just watch for a while and tell you things you never even noticed or realised I love it, it can give you so much more confidence in your ability to get on with things in a really constructive and positive way. That's kind of what I mean about seeing a Neurologist, they are so experienced in their field they can see things we and others may not notice or appreciate.
I am really pleased you had such a good session, obviously I know it's only the beginning but you sound so much more positive about things.
I hope things keep going well I'm sure they will, let us know how his next session goes.
Paul has started hydrotherapy again this week, the pool has been off for ages due to faulty tiles and he did really well, it was months ago when he last went in with the physio and he could hardly hold his head up and only lasted about 10 mins, this week he was in for about 20 mins and did so well I was really pleased.
It gives you a real boost too when the physio tells you how well they are doing as they can see how hard things are for them having low tone etc it reminds me how special my little boy is and how hard he works even when he's just having fun and playing it makes me really proud.
very pleased things are moving on keep us posted x