LAUREN'S STORY                                         

Our gorgeous, little girl, Lauren, has just celebrated her twelth 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 Lauren’s 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. Fortunately as time went by both her hearing and vision have improved and the hearing aids were withdrawn at twelve months of age.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 didn’t 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 another paediatrician who we found to be very 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 Children’s 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 Women’s and Children’s Hospital in Adelaide, a metabolic explanation for Lauren’s myelin problem proved negative.  We were left with an undiagnosed condition with no prognosis.  We were none the wiser.

We celebrated Lauren’s 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.  At this age Lauren couldn't sit, roll, crawl or talk. She had some head control but this had deteriorated.  Her muscle tone was extremely poor and she was generally floppy.  Lauren did not like to be on the floor and she would get very distressed if she was left anywhere alone.  A lot of the time was 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 Lauren’s 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 Lauren’s 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 Lauren’s 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 were frustrated by the lack of research investigation into Lauren’s condition and the contradictory reports we were receiving. We decided to send Lauren’s medical history, MRI’s 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.