Saw my neurologist today for the 3rd time in 3 years. Discussed my son’s recent diagnosis of muscular dystrophy (Duchennes) and that I am a carrier of the gene and whether I was possibly a manifesting carrier but after another examination the neurologist is sticking with an upper motor neuron condition because of my babinski, spasticity and brisk reflexes as well as the pain and difficulty I have walking. Also she wants me to get my eyes tested by an optician because she thinks she could see an issue with them but they’d be able to see it better. Despite my mri’s being clear (without contrast) my symptoms and abnormal examinations have been consistent and there’s many clear periods of regression and improvement so I’m now being referred to a m.s specialist, m.s nurse, physiotheraphy and have been prescribed gabapentin to help with the pain. Also I’ve been told they won’t press me to have a lumbar puncture anymore because it won’t change my treatment. If the m.s specialist believes it is important then they will be able to put me asleep if needs be due to my severe phobia. I’m also being referred for visual evoked potentials. My CK levels are being tested in the meantime to just make sure the duchennes gene isn’t contributing to my issues. I’m really glad that I’m getting treatment now. It’s been over 3 years that I’ve had issues and during that time I’ve gradually got worse to the point I’m tripping and stumbling constantly and I can’t even remember what it feels like to not have something hurting. The future is going to be tough with both my son and myself unwell but I do have a lot of support.
Really pleased to hear it, I am 9 months in on waiting for a diagnosis of something so im glad after 3 years your getting somewhere. I wish you and your little man lots of luck and hope things improve for you both. Remember to live for the good days, forget the bad ones and most importantly keep smiling.
It sucks all this sucks but we make of life what we choose to.
Really pleased you are getting somewhere honey…seems like a very steep incline when you climbing the hill… Keep positive and stay strong…hugs xxxx Kate Xx
I hope you and your son get the best possible care and treatment.
Life with 1 disability in the family is a pig, but 2…well it`s an even bigger pig!
Wow! What a productive appointment!
I really hope it leads to some answers for you.
Good luck, Glad things are moving forward for you. Hope you and your son get the best support and help that’s around! Teresa xx