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We have a diagnosis

Thought I'd better pop on here seeing as we now have an official diagnosis for Lydia, she has central core disease an RYR1 myopathy to be specific. She has had nearly 6 months at nursery and is loving it and has just recently come out of Piedro boots and now has insoles so she is the very proud owner of her first pair of 'proper' Clarks school shoes that light up and everything!!

We still continue to have a multitude of appointments and juggling those as well as working full time gets on top of us sometimes. We have an appointment tomorrow at home as the neuromuscular team need to come and discuss Lydia's scoliosis with us, she is being referred to a spinal clinic in April.

Hope you are all well,



  • Hi Charlotte glad to hear Lydia is enjoying Nursery. How did the Neuro appt go? Were you expecting that diagnosis? I remember you saying you had a Myopathy so is it the same as you then?

    I don't know how you manage working full time I was bad enough doing 2 days a week. I got made redundant last year and decided to just stay out of work for a while. This month we've got around 15 appointments and with Paul being under the weather, me almost 20 weeks pregnant and decorating I am really feeling the strain.

    Love your family pic Lydia looks so grown up x x x
  • The app went well, they just wanted to prepare us for what will happen at the spinal clinic in April which hubby and I are very glad of. The surgeon is coming over from Manchester with his team to look at her. They seem to think the most likely outcome will be to observe her over a 6 month period and x-ray her again so they can chart the progression in the scoliosis over a shorter timescale.

    Lid's myopathy seems to be the same but different if that makes sense, it's almost like a mutant strain of it as she is far worse than any of my family ever were, bless her, she does like to keep us on our toes!!

    I do struggle with working full time sometimes, this being one of them as Lydia has an awful chesty cough and cold so she isn't sleeping and OH and I are taking it in turns to get up with her, it's like having a newborn again!!

    Hope Paul gets better soon and that your pregnancy runs smoothly.


  • Hi Ladies, not been on for a while, Charlotte really glad Lydia is doing well and that at last you have some answers, Chriss sorry Paul has been under the weather again hope he is feeling better soon.

    Update on us, Isaac had a review with the paed 3 weeks ago followed by a genetics appointment, the paed has basically said that he doesnt deny that Isaac has behavioural, social and communication problems, sensory processing disorder, hypermobility poor core stability and low muscle tone but as he cant come up with a diagnosis he is signing us off as there is no point keep going back every few months and going over the same ground :evil: he said that when Isaac starts school in September he will automatically get picked up by the SENCO and referred to the school paed. To say I am fuming is an understatement, I am not prepared to accept that there is no one to help us, I have asked for referal to a different paed at a different hospital but so far I am hitting a brick wall.

    We saw the geneticist who actualy gave a diagnosis in writing of autistic spectrum disorder, in a way I breathed a sigh of relief that finally we knew what we were dealing with, however the paed will not support the diagnosis so it is not an official diagnosis.

    He was also due to go in for surgery last Thursday to repair his hernia/hydrocele but at his pre op on Tuesday they discovered he has a heart murmur so cancelled the op until he had seen a cardiologist. We saw the cardio on Friday and he has a condition called bicuspid aortic valve, what that means in laymans terms is this, the aortic valve usually divides into 3 sections, this enables the valve to close properly and prevent blood from flowing back into the heart, Isaac has only 2 sections so he has a bit of backflow, at the moment they are not concerned and it generally doesnt cause any problems in childhood, problems are usually seen later on in life when the heart has to work harder, he will be reviewed every few years but for now we have been told not to worry (easier said than done). He has been rebooked in for his surgery 22 March, then he will be due another lot of surgery on his eye before the beginning of March, busy time for us at the moment. Good to hear from you both, take care. H xxxx
  • Charlotte, glad your appt went well, I know what you mean about same but different, our Paul is more affected than I was but it is very common for the same condition to vary greatly from person to person so maybe it is somewhat like that.

    Hayley1 - I don't even know where to start, its a good job you can hold it all together your Paed is a load of crap, what happened to your Neuro appt? I remember you saying you were having one but I've forgotten what they said. Our original Paed stopped seeing us after we got our Neuro appt as they took over the main body of Paul's care and search for disgnosis. The Paed's aren't specialised enough and don't have the same level of funding to test for anything and everything.

    Paul is a bit better just really tired and we've all had a tummy bug too over the last few days but at least Paul is on the up.
  • His nuero appointment was ok, they have said they cant see any immediate reason and the nuerologist told me that he thinks all Isaacs problems are down to autistic spectrum disorder (seem the only person who disagrees is his paed), I had a bit of a hissy fit at the paed on Monday and as a result Isaac has now been referered to and early intervention locality team, specialist health visitor and a paed who specialises in autistim and autistic spectrum disorders, however they are chronically understaffed so we may have to wait up to 3 months for an appointment. Hopefully we will start getting some answers soon.
  • Well I'm glad that you went mad it has got you somewhere even if the waiting list is long, and hey just keep hounding them to check on your status on their list. I hate the fact that you just don't get anywhere unless you kick up an absolute stink. Hopefully you can get a diagnosis and the help he needs with this Paed.
  • Hey ladies, how are you doing, I've not been on for a while, usually I just pop in to see if you have been on.

    We finally have a diagnosis for Isaac, he has Autistic spectrum disorder, hypermobility, cognitive rigidity, sensory processing disorder, gross motor planning and perception problems and semantic and pragmatic language difficulties.

    What a list, I must admit when the report arrived I felt strange, on the one hand I was relieved that finally we have a diagnosis but on the other hand I felt as though my heart had been ripped out, it is not easy to read a report that basically lists every single difficulty your child has in such detail, however, I have picked myself up and realised, this is a positive thing, it means it has opened up pathways to support for all of us and at the end of the day he is my gorgeous little man who Iwouldnt change for the world.
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