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mum.
Ella Dís was born healthy 7 pounds 11 ounzes on 2nd of january 2006 at Qunquest hospital,Hastings ,s- sussex, UK.
Ella
appeared fine until about shortly after her 2 month vaccination(they
start jabs at 2 months in the UK) she became ill,high fever and
refusing to drink , i got so worried i took her to the hospital but got
send home with no answears about what was wrong and it took Ella about
10 days to recover, after that she became fragile and seemed to catch
every bug around, since then and all her vaccitnation Ella became worse
and every month she had an earinfection og and a runny nose and was put
on antibiotics almost every month so they didnt really help that much.
at
12 months after once again another of her vaccination but now here in
Iceland she became very ill high temputure and refusing to eat,she had
antibiotics but didnt get better, but finally after almost 14 days she
seemed ok, but shortly after that she appeared out of balanced and kept
falling down i thought it was her feet or hear ear problems that was
causing this so i hoped she would grow out of it but then she started
to fall without ptting her hads out to protect herself so she fell on
her face several times and i had to take her to the dentist as her
front tooth went dead and had to be taken out.
then things just got worse andher left hand seemed to go first and then her rigth hand and arm and most of her torso.
She
had a G-tube fitted on 14th jan 2008 and after that she got a number of
lumonia and lost the ability to walk after all that sickness.
on
the 17th of june 2008,less than a year from noticing her fuirst
symptons Ella seemed very ill and turned white and almost stopped
breathing, it is nelieved thats she had a co2 poisining and lost
cuncuiosness.
dad.
Ella was born in 2006 and is 3 in January 2008.
Around june 2007 aged 15 months it became clear something was wrong. She would often lose balance and fall. Soon she started to lose power in her arms and gradually over the last year has deteriorated to the point where now she has almost no ability to move , talk and breathe. Her life is in constant danger now. Her breathing is supported by a bipap machine 24 hours a day as the muscles that enable her to breath have deteriorated so badly.
If she is without the machine for more than a few seconds the oxygen levels in her blood drop rapidly.
Ella was initially seen by a pediatric neurologist in iceland in october 2007 and was soon diagnosed as having Spinal muscular Atrophy. Ella was found to be normal when the smn1 gene test was performed. Although she tested negative ,she was still regarded as having sma of an unknown type due to the fact that initial electrophysiological test abnormalities and other tests such as ck , transmines , brain and spine mri, csf being normal pointed to a disorder which falls under the umbrella of spinal muscular atrophy and no other diagnosis fit. Over time , after repeating certain tests it became clear that the intial diagnois did not fit perhaps. Since this time there have been other possible diagnosis considered.
chronic inflammatory demyleinating polyneuropathy
hereditary motor sensory neuropathy (charcot marie tooth) genetic tests performed have not confirmed a diagnosis.
All the tests done so far paint a confusing picture. Initially the disorder seemed to be located in the anterior horn cells of the spinal chord and the nerve conduction studies were normal. Later on , abnormal nerve conduction pointed to a demyleinating polyneuropathy.
whilst in london ella began ivig therapy as the electophysiological tests pointed to a demyleinating neuropathy and it was thought that there was some enhancement of the cauda equina. ella continued on this therapy for 6 months but was discontinued after continuation of deterioration and now infllamatory process being seen in the sural nerve biopsy.
A sural nerve biopsy showed axonal and demyleination , it is thought that damage like this can be seen in sma perhaps.
mitochondrial studies showed that ella has a reduction in cytochrome oxidase.
recently she has suffered a drop in red blood count and hemoglobin and reticulocyte numbers where low indicating that her bone marrow was not producing new red blood cells.
Ella has still some ability to move her legs and hips although this is decreasing and there is not much strength there now. she has no neck , arm, shoulder power , there is a lot of atrophy of her tongue and other bulbar and she does not really swallow. she cannot speak or makes very much sound now. she has some sort of horizontal nystagmus.
when ella visited the university of medicine and dentistry in new jersey, the immunoligist reported that cd19+ and cd27+ memory cells were elevated.
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