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With irritability increasing, Lauren became more reluctant to feed orally
from a bottle and became more and more dependent on gastrostomy tube feeding.
Eventually she ceased to accept bottle or any form of oral feeding. All food and
medication was administered through the feeding tube. We felt that she was not
tolerating the additional volume of fluid provided by the G.T. We suspected she
was refluxing with a full stomach and was reluctant to accept food orally
because of the pain she was experiencing.
From around 15 to 18 months of age Lauren was experiencing very unsettled sleeping patterns at night and so were we. We found it extremely difficult to get her to sleep and then stay asleep. We tried everything and eventually resorted to a sleep study investigation at Monash Medical Centre. Her disturbed sleeping behaviour occurred even when sedation was administered. The sleep study could not account for her irregular sleeping behaviour but it did set the wheels in motion for the use of a series of anticonvulsant drugs to try and control the frequency and intensity of her muscle spasms and so possibly improve her sleeping.
These anticonvulsant drugs have had a questionable influence on Lauren. Some appear to cause changes while others appear to have no affect. The side affects such as dribbling due to hypersalivation have now become another major problem to deal with. Lauren is sedated every night to get her to sleep. We now believe that a lot of her sleeping problems were caused by pain due to gastroesophageal reflux. There were numerous times when Lauren would vomit blood in her sleep or we would aspirate blood from her stomach first thing in the morning. Barium meal studies and a milk scan proved reflux was taking place. Eventually after a number of visits to hospital our Gastroenterologist performed a Gastroscopy and observed a badly ulcerated oesophagus and hiatus hernia. No wonder Lauren had a distressed pain like expression on her face and had more frequent spasms. The oesophagitis and refluxing has been treated with the use of medication. We did consider having a Fundoplication operation to stop the refluxing but after consulting with our gastroenterologist and a surgeon we decided against the prodedure. In addition to the prescribed medications for gastroesophageal reflux and bowel motility we started using slippery elm powder in her formula to help relieve the symptoms. This seemed to make a positive difference so we continued to use it despite scepticism from some of our doctors.
After Lauren’s second birthday we investigated a number of Early Intervention Programs in our area. We decided to enroll Lauren in the Knox Spastic Centre conductive education program. This was commenced in February 1998, but unfortunately it was more suited to cerebral palsy children who had more ability than Lauren. .At this stage Lauren was too young to enroll in an Education Department Early Intervention Program. During Term one of 1999 we withdrew from the conductive education program and enrolled Lauren in Croydon Special Developmental School’s Early Intervention Class. Lauren was accepted willingly and seemed to really enjoy the activities, the change of environment and the company of her class mates and teachers.
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. If it were a spontaneous mutation then it would be a one off event and probably wouldn’t happen again. 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.