yes it is very hard not knowing. especially when many doctors start to say that it is pointless to keep searching for a diagnosis. the problem with neuromuscular disorders it seems is that they are mostly untreatable and you can only aid the respiratory system and make life more comfortable for your child. there is always a what if though in your mind , what if she has something that is treatable , then you have to say to yourself what are we putting our daughter through in the search.

at this point we are now thinking to ourselves the most sensible option is to collate all the information and test results that exist already and see about asking drs to look over and see if they have any ideas.

no this is still a bit of a mystery. the most likely diagnosis is spinal muscular atrophy , i.e a problem with the anterior horn cells in the spinal chord.

it seems that normal nerve conduction velocities but denervation and normal csf , brain and spinal mri and normal blood workup including ck and transmines point to a problem in the cells of the spinal chord. the waters are muddied somewhat as in her case there now is axonal damage and demyleination, we know this from the nerve biopsy that was recently taken.

it seems that this axonal damage can happen as a result of the anterior horn cell problem, it is all very confusing.

Right now Ella is on continuous bipap. There has been the results of tests coming through. there were a series of tests relating to metabolic mitochondrial disorders, on of them showed a reduction in the enzyme cytochrome oxidase. cytochrome oxidase help cells use oxygen as fuel. the reduction is not thought to be alarmingly low just enough outside of the normal range to be noteworthy . It is unclear as to whether this is diagnostically significant.

Ella had an immunological test done, which found an elevated number of memory b cells (cd19 + cd27) The significance of this is also unknown.

Her condition has deteriorated although she remains in good spirits considering she can not speak now, can only move her legs and hips and is bedridden apart from the short time she spends in a special chair on wheels that enables her to leave the hospital room she is confined to. she was at home for two weeks for the first time in 4 months but we took her back to hospital on monday as she had to have her monthly dose of ivig and she also was not looking too well.

blood tests revealed that he hemoglobin levels were seriously low at 60 where the normal would be 100-120, she was very pale, tired and irratable. it is not clear what happened but a blood transfusion got her up to 90 and over the next few days she has climbed to 98 herself which hopefully means that she is ok in this respect.

we were hoping that this might be a clue of some kind to her disorder which continues to remain a mystery. a nerve biopsy has shown severe axonal degeneration and secondary mylein damage. chronic inflamatory demyleinating neuropathy was a possible diagnosis but that seems to be unlikely or impossible when all test results are considered. i.e the nerve biopsy shows axonal damage not just demyleinating damage.

ella eyes have started to twitch now. not the eyelids but the eyeball themselves. it looks as though the optic nerve may be affected. the situation is very hard now, it feels sometimes like things are getting worse by the week but we want to believe that she will get better.

it is very upsetting when you think about her life now and in the future. she is such a character though and we are grateful for what we have right now but it seems to be slipping away slowly.

recent photo of ella.

She is beautiful. I hope that you have found some answers.

Is it possible that that this could be linked to an autoimmune disease or some type of disease that causes malabsorption? Celiac Disease, etc... malabsorption of nutrients can cause a variety of problems such as bone softness, etc...
Might be worth looking into -

yes that is a possibility perhaps. she has had a course of ivig and immunosuppresive steroids which did not seem to help.


I have put some detailed information at www.helpher.net if anyone can take a look and maybe pass it on . maybe someone knows something.

ella is very weak now and is having more and more repiratory difficulties. she has lost so very much now.