Dear Dr. Greene, I have a son who was born on Aug 12, 1995. He was normal from birth to about 1 year old. He could stand up and hold onto furniture and walk around. He could speak a few words like "daddy," "one," "two" etc. But when he was about 15 months his development was going backward gradually. At first, he did not stand up any more. Later on he did not speak, he cannot crawl, he could not sit. Now his neck does not have enough strength to support his head. And so very often his head is down. Also, his hands are getting weaker and weaker. In May 1997, he had to use a gastric tube to take any kind of fluid. However, he still can take solid food, but not completely like a normal child does. Our pediatrician and the neurologists said that he has neurodegenerative disorder. They have done tests on him but they still cannot find out the cause. They said that this is most probably something related to the gene and so there is no way to make him recover. We are really sorry to hear about this. We do not mean that we do not believe in our pediatrician and neurologists. But as a parent, I could not just see my child getting worse and worse and die some day. Therefore, I am now checking on the Internet to see if some one can help my child.
Please give us some comments.
Thanks,

What a heart-wrenching saga, T.M.! Childhood, at its core, is a time of amazing growth and development. As parents, we thrill as our little ones achieve each new developmental milestone (with perhaps a bittersweet twinge at how quickly it all goes by). But how jarring, how deeply wrong, to watch helplessly as your son's achievements slip away.

The neurodegenerative disorders of childhood are a diverse group of rare diseases that until recently were a death sentence of the most horrible kind. These diseases can result from genetic problems, biochemical defects, viral infections, or toxic substances, but they all share the same grim story. A previously healthy child begins to deteriorate. The hallmark of these diseases is a progressive loss of speech, hearing, vision, and strength. Seizures, feeding difficulties, and loss of intellect often accompany this downhill course. And up until the last several years, they continued relentlessly until the child died.

A few years ago, Augusto and Michaela Odone's son was diagnosed with a neurodegenerative disorder. Like you, they were told by excellent physicians that their little boy had absolutely no chance, but would deteriorate steadily. Like you, they continued to search for hope. Eventually, they discovered a therapy that came to be known as Lorenzo's Oil, named after their little boy, Lorenzo. Their heroic quest is chronicled in a powerful movie called "Lorenzo's Oil." I highly recommend watching this film if you haven't seen it.

I met the Odones at an Institute of Medicine meeting in 1996, eleven years after the rapidly progressive disease was supposed to have killed their boy. They glowed with pride as they talked of a song that Lorenzo and his mother had just written with Phil Collins. Lorenzo's Oil isn't a miracle cure, but it can provide real help for children with one type of neurodegenerative disease - adrenoleukodystrophy. Lorenzo's Oil is the first of a growing number of increasingly promising therapies for many of the neurodegenerative disorders of childhood.

The outcome of these disorders has historically been so uniformly dismal that it is quite tempting to stop short of pinpointing which specific disorder a child has once a diagnosis of neurodegenerative disorder has been made.

Knowing exactly which disorder is very worthwhile. You've been told that your son has one of the genetic neurodegenerative disorders. These are grouped into four categories: sphingolipidoses, neuronal ceroid lipofuscinoses, adrenoleukodystrophy (like Lorenzo), and sialidosis. These may be distinguished from one another based on head CT, head MRI, nerve conduction velocities, visual evoked potentials, auditory evoked potentials, electroretinography, and to a lesser extent, EEG's. When needed, skin, conjunctival, and nerve biopsies can help pinpoint the diagnosis. There are now also blood tests and DNA tests that can help diagnose these conditions. Finally, specific enzyme assays and cultures can distinguish between individual disorders within each group.