Disclaimer: I’m no expert, but this is roughly what I have learned so far from talking with our doctors and reading various resources on the internet.

What is leukodystrophy?

The name leukodystrophy refers to a group of 34 genetic illnesses which cause a progressive degradation of the white matter of the brain.

More information: http://en.wikipedia.org/wiki/Leukodystrophy

What is white matter?

White matter is a term given to the nerves which connect areas of grey matter in the brain to other areas of grey matter within the brain and also to the muscles and sensory organs (e.g. eyes, ears, skin) in the rest of the body.  The nerves look white because of their myelin coating.  White matter can be thought of as the wiring or communications network in the body.  If it doesn’t function properly then the brain is unable to properly communicate with the rest of the body.

What is myelin?

Myelin is a fatty layer that surrounds nerves in white matter.  Its job is to act as an insulator and also to increase the transmission speed of the nerves.  If the myelin is not present or it is degraded then nerve signals may be slowed down, weakened (the signal leaking out), or lost altogether.  Myelin can be thought of as the plastic insulation layer on electric wires.  Without insulation, electric wires will short circuit, leak current, and basically not work properly.

What is Aicardi-Goutieres Syndrome?

Aicardi-Goutieres Syndrome (AGS) is a very rare (approximately 200 known cases worldwide) form of leukodystrophy with no known cure or treatment.  This is the form of leukodystrophy that Joseph has.  The genes for AGS were only recently discovered in 2006.

AGS appears to be an auto-immune related condition.  Due to a malfunction in the patient’s immune system, the immune system attacks myelin.  In addition, the immune system attacks other parts of the body causing skin lesions, and damage to the grey matter in the brain.

More information: http://www.aicardi-goutieres.org/index.jsp?lingua=ENG

What is the prognosis for Joseph?  Is there a treatment for it AGS?

There is currently no treatment or cure for AGS.  The prognosis is bad, as it is for all leukodystrophies. In the case of AGS, it is unlikely that Joseph will ever sit, crawl, walk, or talk.  We don’t know what his life expectancy will be and we can only hope to keep him stable, smiling, and happy as he is now.

Which charities are helping to raise money for leukodystrophy research?

There are several charities which are helping to fund research into leukodystrophy.  We are fund-raising for ELA, the European Leukodystropy Association: the ELA