LAUREN'S STORY
Our gorgeous, little girl, Lauren, has just celebrated her eighth birthday. This is a significant milestone considering
what she has been through in her short life. Lauren has a rare neurologic disorder, which health professionals suspect is
genetic.
By three months of age after what appeared to be a normal pregnancy and birth, we suspected there were problems with Laurens
development. In particular we noticed problems with her hearing and vision. A visit to the paediatrition set the wheels in
motion for what now seems to be an ongoing and seemingly endless series of appointments with health professionals. Her vision
was tested by a very astute ophthalmologist who ordered a C.T. scan of her brain. The scan revealed calcification of the basal
ganglia and prompted our paediatrition to immediately conclude that our child was brain damaged and therefore had cerebral
palsy. Initial hearing tests performed by an audiologist brought the comment there is no response; your child is deaf.
We were shattered, what appeared to be a normal, healthy child at birth is now brain damaged with cerebral palsy, has vision
problems and is deaf. Further testing was undertaken to determine the cause of the brain calcification but all test
results were negative. Additional hearing tests resulted in the fitting of hearing aids at six months of age. A very
distinctive nystagmus and convergent squint were monitored by our ophthalmologist and fortunately as time went by both her
hearing and vision have improved. The hearing aids were withdrawn at twelve months of age.
Our first paediatrition always seemed too pressed for time to answer the many questions we presented at consultations.
Lauren was often distressed and irritable, she didnt take to solid foods at all and often she suffered with chronic constipation.
We knew it was time to seek a more caring and committed paediatrician. Our G.P referred us immediately to our present
paediatrician whom we find extremely sympathetic, caring and supportive.
Our first paediatrician eventually referred us to a neurologist, four months after the CT Scan. Immediately he arranged
for admission to the Royal Childrens Hospital, Melbourne for investigations including a MRI Scan and EEG plus consultations
with gastroenterologists and geneticists. Two weeks later, at the age of 10 months, we received the devastating news;
the MRI showed Lauren lacked myelin in her brain. When subsequent pathology tests were done on blood samples at the Womens
and Childrens Hospital in Adelaide, a metabolic explanation for Laurens myelin problem proved negative. We were left
with an undiagnosed condition with no prognosis. We were none the wiser.
We celebrated Laurens first birthday with mixed feelings. For the first year, we were the only ones who could nurse
her. She became very upset if anyone else picked her up or tried to nurse her. Lauren cant sit, roll, crawl or
talk. She had some head control but this has deteriorated. Her muscle tone is extremely poor and she is generally floppy.
Lauren did not like to be on the floor and she gets very distressed if she is left anywhere alone. A lot of the time
is spent with her in our arms.
Twelve months after our initial consultation with the geneticist we made
an appointment for a review consultation. We were not surprised when the geneticist acknowledged the fact that he had not
actively followed up on Laurens condition since the first visit. We informed him of all the changes that had taken place since.
It was he who first used the term Leukodystrophy to classify Laurens condition. He also stated that Lauren could be the result
of a one off spontaneous mutation or her condition could have a genetic cause and is probably autosomal recessive. This meant
that if we were to have more children there could possibly be a one in four chance of conceiving another child like Lauren.
After that consultation a written report was sent to our paediatrition and neurologist actually stating that Lauren could
possibly have a genetic disorder called Pelizaeus Merzbacher Disease. We were stunned by this information because the report
that we received did not mention PMD but simply stated that there could be a genetic basis to her condition. Our neurologist
dismissed PMD as a possible diagnosis and our paediatrition accepted his assessment, so Lauren continued to be undiagnosed.
Another twelve months went by and we made an appointment for a second opinion from another geneticist. We again cited all
the changes that had taken place and questioned why DNA studies had not been done and that we were disappointed with the lack
of active investigation and the poor follow up after previous consultations. Having read Laurens medical files, examining
her and consulting with the original geneticist, her written report stated that Lauren might possibly have a particular form
of PMD namely the connatal form
We seemed to have hit a brick wall. We have been frustrated by the lack of research investigation into Laurens condition
and the contradictory reports we were receiving. We decided to send Laurens medical history, MRIs and CT scans to the United
Leukodystrophy Foundation in the States for review in their Second Opinion Program. This was in June 1998. Around the same
time we arranged a second opinion consultation with another neurologist. He was not able to provide a diagnosis but stated
that Lauren could fit into the connatal form of PMD, but it would be difficult to make this diagnosis with current genetic
testing.