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Robert Family
(please note: Julie Robert, author of this story can be reached at majprob@upnaway.com )
I had a normal third pregnancy.
Mark has two 'normal' healthy siblings.
My husband and I are non-smokers. I was exposed to termite spray applyed to the
external and internals of my home when I was 4 weeks pregnant. I did not expect to
be pregnant but became ill with nausea and severe muscle fatigue very shortly after being
exposed. When I discovered I was pregnant we blamed the pregnancy for all the
symptoms, which I did not fully recover
from. I also had carpel tunnel syndrome, which I still have, although I was
diagnosed 12 years ago with fibromyalgia, which I have 'mildly' but suffer considerable
pain and aches constantly.
Mark was born on the 10th January 1987 three weeks early. He was a scrawny 6
pounder. He was loose limbed but not really a floppy baby. He had immediate
difficulty with breathing. He had a stridor, (floppy larynx), and often stopped
breathing while I was breast feeding him. He used to go blue during the feed so I
would sit him up and blow in his face and he would gasp for breath and continue his feed.
He had a untreated reflux. A barium swallow was performed at 4 days old to
ensure patency of his oesophagus, and no leak to his lungs. This was normal.
He was fed by nasogastric tube for three days.
Mark had problems with jaundice which resolved eventually after two days under lights.
I took him home 10 days old. He continued to have apnoeic episodes during
breastfeeding. I used to blow in his face to get him to breath when he went blue.
Thus I always had to feed him under bright lights. Just great at 2am. He was
a very happy, placid baby. He crawled at 12months old which was 6 months slower than
my other children. He walked at 18months. He got his first tooth at 12 months.
I took him to see my GP at 18 months old because I felt his ankles and foot
stability was not normal. He used to fall ontop his knees rather than onto his bottom.
I knew this was not normal. She referred me to a paediatric specialist who said he
was perfectly normal. I disagreed but felt reassured anyway. She recommended
walking in sand to strengthen his ankle muscles.
During the next 4 years a number of friends asked me if I had had his eyes checked because
they seemed to by 'strange'. He had had all the childhood checks and immunizations.
I just assumed that because my husband has very open eyes that he just looked like
his Dad.
In Sept 1992 we went on a family holiday away up north. One day, we were playing eye
games. Mark's older brother was playing follow your finger to your nose and cross
your eyes. Frustration broke out because Mark would not play properly. Alas I
discovered he had little to no normal eye muscle movement. The nurs in me sail
"It's probably just weak eye muscles, I'll get them checked over back in Perth."
No more was said until our return when he broke out in a rash (Rubella). I
wanted this confirmed so used it as an excuse to ask the Dr to check his eyes. She was
immediately concerned. Off to the eye specialist immediately.
He had never seen this before and explained the serious nature of the condition. I
think I went into fairy land somewhere. I do not remember feeling gravely concerned.
I guess you just don't believe anything horrible could happen to your precious
child.
Off to the eye movement specialist. Immediately.
She was a cow!!!! She examined him and then sent him out of the room after doing very
comprehensive testing. She announced immediately that my son most probably had a
brain tumour. She had never actually seen this condition as serious as his but this
was the only possible answer. There was absolutely no compassion what so ever!
I then contacted my Dr who referred me to a neurologist. Dr Peter Walsh. He
has been a dream. A wonderful man, with the most fantastic smile. Mark thinks
he is wonderful too! He thoroughly examined Mark and then advised my husband (Andy) and I
that Mark needed to be admitted for a number of tests. I asked him not to tell me
what he thought it was until he actually knew, as I would look them up and add to my
worry.
Mark was admitted to Princess Margaret Hospital for Children in Perth WA in Dec 1992.
One week prior to Christmas. He had one test done and then got the results
and then the next test until all six tests were completed. These included Tensilon
test, muscle biopsy, and bone marrow biopsy. The Tensilon test was my biggest
concern. I knew that if you gave the Tensilon injection and Mark was positive to
Myasthenia Gravis, he would stop breathing. The junior Dr came in to do the test
without the Resus equipment or Mr Walsh. She was reading the instructions as she
walked into the room! Mark was a private patient so I jumped up and down until the
right procedure was followed. I never saw that Dr again. I hope she learn't
something from that because it sure did nothing for my confidence.
This time was very traumatic for me as the nursing he received was far from acceptable due
to staff shortages. I came in to find him lying in vomit after being forced to go
home due to no sleeping facilities for parents. I coped at the time but 2 years
later this lack of trust for medical staff became a big issue resolving my severe
depression. It still sickens me to write this.
Mark was discharged and I received a phone call on Boxing Day from a Proffessor Kukulas
informing me that he had Mark's test results and that he had a muscle weakness condition
and he needed mey permission to run further tests on the muscle samples. This
included electron microscopy which is very expensive. He was given to go ahead. 2
weeks later he called and announced that he could not get access to the microscope as it
had run out of money to do Australian work. I took this on and contacted my local MP
who was then Minister for Health. He contacted Canberra and in no time the money was
available. An election around the corner had nothing to do with it of course. Prof.
Kukulas then took the slides overseas with him to find a match he thought he had seen
before. I think this was in Germany.
He called us as soon as he found it and asked us to go and see Dr Walsh. Dr Walsh advised
us that "We had got the very best of a very bad bunch of conditions." Dr was
gentle and very pleasant explaining that he knew very little of the condition but had done
some research to show us and give us some referance material. The news was not
fantastic but he spelt out the worst case scenario. He could be in a wheelchair by
the time he is 10. He has 50% of abnormal muscle tissue so at the normal replacement
rate he would progressively grow weaker. We did not know if he had grown weaker or
had been born this way. I was convinced the latter.
We accessed his grandmothers video film of him as a babe and showed Dr Walsh. He
agreed we were probably right but we would have to wait and see.
Wait and see we have and after a few years of physio assessments and association with
Rocky Bay (Support for disabled children services), we have reached our own conclusion
know one knows about this condition. They (Medico's) are guessing.
Mark has attended normal school during this time. He does have some bladder muscle
weakness which has caused the most distress. He was a bed wetter which we resolved
using a pad and alarm training program. The stress incontinence is still a problem
today. His mother and grandfather had the same problem with this so it may not be
associated.
The only surprise Mark has given us so far was a bout of severe chest pain which saw him
hospitalized for a few days. He had air trapped around the pulmonary artery
(Mediastinal pneumothorax). It happened at school for no reason. It resolved
over a period of weeks and the pain disappeared after a few months.
He remains a fit and healthy, now 13 year old.
He is the typical teenager.
Dr Walsh is only concerned now about how restricted he may be after the major muscle
bulking happens through puberty. I don't think this will be a problem as he is now
5'7" and quite strong. He walks but cannot run well due to shortened muscles
and Achilles. He will not do his stretching exercises. His eye problem is no
problem. He plays tennis, cricket and many other sports. He is a very loving,
caring person and has a remarkable ability to counter act his disability. Some
psychiatric assistance was wisely used after an issue with ateacher and some not so nice
children at school. He is looking forward to a change to High School this year.
He still uses those skills taught to him in those hard times. He values the
experiences with other children far worse off than himself.
His goal in life is to become a Marine Ecologist.
My story goes back to 2 years post diagnosis when I hit an all time low and could not cope
with anything. I was vomiting for no reason and very physically unwell. My
very wise Dr had seen the decline and ws waiting for the day when I would recognize the
problem. I had buried my head so far in the sand and put a very tight lid on the
jar. I was needed help urgently and I got it. Then psychiatrist I saw with my
husband eventually was wonderful and really is the person behind me coping with a
diagnosis that know one really knows about. Andy had to put up with a lot of
difficult times with me through this time and he has really been wonderful. It could
make or break a marriage. I am please to say it was a major turning point in our
life together. The cement is set.
I have not had any major problems with depression for two years now but I "surf the
waves all the time". I think all mum's that have had this type of experience do
this and we do it well some times and we have a good go at drowning other times. All
is well at present. Thus the reason I can finish this now.
I do hope you can relate to this story as it really is from the heart and the next two
years are going to be a challenge. Hopefully not a tough one. Mark is fully
aware of the situation and moves on accordingly.
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