A parents' story

We have a family of three children. Lex is our second child. He had a difficult start. During pregnancy a growth retardation was diagnosed and at 37 weeks gestational age labor was induced and Lex was born. He had a low weight but was healthy, a big relief and pleasure for the whole family. Lex grew up to be a friendly and agile little kid. He was in for games, liked to be hugged, and had many friends. He was also often ill and he had more trouble to get over it than his older brother Yvo and his younger sister Milou. When he was seven, his school achievements dropped. His teacher considered this laziness, as if Lex could perform better, but did not want to. In reality, Lex lost the ability to concentrate and to store what he learned. His performances became highly variable and erratic. He could not sit still anymore and often disturbed the lessons by wandering around in the class. Also at home he could not focus on a subject for more than a few minutes and his attention jumped from one subject to the other. He became more and more uninhibited and the school results became poorer and poorer. After a psychological test he was placed in a school for remedial teaching. For us, parents, this led to feelings of guilt and helplessness. What had we done wrong? Why did this happen to Lex, whereas everything was going well with Yvo and Milou? The new diagnosis was "attention deficit and hyperactivity disorder", ADHD. A strict and structured educational regimen was prescribed, without much result. A child psychologist thought that Lex suffered from a borderline form of autism and advised admittance to a psychiatric hospital. We believed that this was an incorrect diagnosis: Lex had always been very easy in making contacts. We refused admittance because Lex now needed us more than ever. The large number of tests he had to undergo made him insecure and unhappy. He said in despair: "Do they still not know that I really cannot do it?". He had the feeling that something was happening to him unwillingly and that he was not able to handle it. Because Lex now clearly showed regression of intellectual functions and became incontinent as well, the child psychiatrist referred Lex to a child neurologist.

At the department of Child Neurology of the VU medical center Lex was thoroughly examined by EEG, MRI and analysis of blood samples, and soon the true reason for the symptoms of Lex was discovered. Lex suffered from X-linked adrenoleukodystrophy, the childhood cerebral form of a rare, hereditary, progressive metabolic disorder, with involvement of the adrenal glands and the white matter of the brain. The prospects for Lex were dramatic: his life expectancy was short and there would be a rapid progression of intellectual and physical deterioration. It is impossible to depict the panic, despair, anger, disbelief, negation, and especially helplessness parents are experiencing at such moments. We were afraid of the unwelcome but inescapable future. It was so hard to accept that despite all medical progress nothing could be done to stop this devastating process, not to speak about curing it. In addition, there was, in a confusing mixture of emotions, a sense of acquittance of guilt: we had not failed Lex as parents.  
With the diagnosis of Lex the ordeal was not over. Because this a hereditary disorder, we had now also to worry about our older son Yvo. And our daughter Milou could be a carrier. In addition, we had to face the difficult task to inform the other members of the family. Our mother, respectively mother-in-law, proved to be a carrier of the disease and our brother, respectively brother-in-law, who had complained for years about fatigue, tested positive and had the adult form of the disease, adreno-myelo-neuropathy (AMN). In this period, our pediatric neurologist of the VU medical center, prof. dr. Marjo S. van der Knaap, was a great help. She took the time to inform us and answer out questions. She prepared us, empathic but realistic, for what would happen to Lex: loss of drive, speech, mobility, epileptic seizures, blindness, deafness and finally death. Experimental treatment with gamma-globulin infusions to decrease the aggressive inflammatory component of the disease in the brain and slow down the progression of the disease did not have any beneficial effect. Because the advanced state of disease and the rapid progression, Lex was not a candidate for bone marrow transplantation. The final conclusion was that there was no hope. Lex was placed on a tyltylschool (a school for children with multiple handicaps), where he felt at ease. He was no longer forced to do what he was unable to do, and he was cared for in an empathic, friendly and for us fantastic way by teachers, therapists and physicians. It remained hard for us to see that his treatment schedule had to be adapted again and again to a lower level. Fortunately Lex found still pleasure in what he could do. It was this positive attitude of Lex that helped us accept his disease, enjoy the day, although we were painfully aware of the fact that every day was a day closer to the time without him. The time that Lex had full mobility, although his mental capacities continued to deteriorate, was unexpectedly long, although MRI made at intervals showed painfully clear progression of disease, with gliotic scars where white matter connections were before. After a major epileptic seizure Lex was admitted to the hospital for a short while. His physical condition deteriorated rapidly. Because of difficulties with swallowing a nasogastic tube was inserted for tube feeding. Within two weeks, he lost all mobility, was bedridden, became extremely spastic, with his hands contracted into fists and deviation of the head to one side. Fortunately, we were able to care for Lex in his own environment at home. This final period lasted relatively short. After less than half a year, on February 15, 1999 Lex died at the age of 10 years in our presence.

We, as parents, can only hope that dedicated specialists will be given the necessary staff and financial means to unravel the underlying causes of these devastating white matter disorders and will find adequate treatment, so that in the near future children like Lex will have a chance of repair and a good quality of life.         

Cees and Anneke Vogelaar