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looking like neuromuscular disorder , advice please

(4 Posts)
Fluffypoms Thu 01-Oct-09 16:51:58

Anyone have advice on symptoms or what to expect from first appointment with neuro at GOSH,

Thanks

BriocheDoree Thu 01-Oct-09 18:52:09

No advice but bumping for you.
{{hugs}} as well as I'm sure this is a difficult time for you!

Anonanonuk Fri 02-Oct-09 00:28:58

Apologies for this long post but I thought I would let you know of our good experience at GOSH with the Neuromuscular Team:

Our child has had appointments with the Neuromuscular team at GOSH and previously with the team when it was based at Hammersmith Hospital. The team are excellent, it is one of the best neuromuscular centres in the country so you are in good hands!

We go there now on average every 6-9 months for a consultant review and physio review in the Neuromuscular Clinic. Our duaghter has just been diagnosed with Scoliois (curvature of the spine) as well so we now also have appointments with the Neuromuscualar Team in their scoliosis clinic as well now.

Talking about symptoms, I'll tell you about our child but I don't know if the symptoms are anything like your child's as you haven't said what they are. Our daughter is now 4 1/2 years old. She had hypotonia from birth and poor growth. She has gross motor skill delay, (can't crawl, stand or walk), polymicrogyria (unusual folding on the front of her brain) and has delayed speech. Her fine motor skills are good and she is very sociable. We were refered to the Neuromuscular Team when she was 2 years old as it was found in a routine blood test that she had elevated creatinine kinase levels (indicative of damaged muscles) and a electromyograph at GOSH supported this finding of damaged muscles.

I seem to remember that the first appointment with the whole Neuromuscular Team present (then based at Hammersmith) involved a lot of the team asking a lot of questions and an improptu ultrasound on her muscles. It seemed that they had a rough idea what the problem might be but a muscle and skin biopsy would confirm it. They wouldn't let on at that stage what they thought it was (in case they were mistaken). Our daughter had the muscle and skin biopsy and had physiotherapy assessments, etc all in this initial 2 day assessment of health and medical investigations.

We got the final diagnosis a few months later. In the mean time we looked on the internet and guessed it was probably muscular dystrophy (possibly Congenital Muscular Dystrophy). At the results appointment it sort of gave it a way a bit when they were introducing the people in the room and one of them was introduced as the the muscular dystrophy care advisor! It did indeed turn out that our daughter had Congenital Muscular Dystrophy. It was a bit of a shock but also a relief that we had a definite diagnosis.

I can't fault the care we have had from the Neuromuscular Team. We have had physiotheraphy, speech and language, dietician, orthotics support from them. The muscular dystrophy care advisor is great. The whole team has been excellent!

I hope all goes well with your appointments!

Fluffypoms Fri 02-Oct-09 11:51:46

Thank you,

does sound like we are in good hands.
My dd is 18months and has just started standing has hypotonia and is hypermobile when i understand the two normally go hand in hand.she claws with her toes and stands on the side of her feet.

We havent any appointment dates as yet should be in the post,I felt abit disheartend at last appointment as i thought we would have got some idea as to what is going on. but you are right i guess they dont want to let on just incase they are wrong.

It was just paed said something about muscles and then something about the neuro so i asked was she saying its looking like a neuromuscular disorder? "Yes".

dd has been having absence episodes too but what most worries me is that 3 or 4 times she will wake very rigid and crys uncontrollably which is so hard to see as nothing we do settles her its like she is in pain and when this happends she will rub her legs together like thats what is hurting.
is this something your dd has done?

Paed kept saying like a night terror but it isnt my other dd has those a it really isnt the same.

Its just hard waiting for the reason behind all of this and wanting to know what we can do to help dd..its like being in limbo,knowing something not right but What?

Thanks again for telling me about your dd she sounds like she is geting the best care.

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