Alpers Syndrome

Wednesday, June 24, 2009
Alpers only happens, by estimate, in 1 of 250,000 live births, which I'm grateful for, but it is also a quick and heartless killer. Those affected will die usually before they turn the age of 10. Unlike cystic fibrosis, where researchers have developed a wide array of treatments, the only thing doctors and parents of an Alpers patient can do is treat the various symptoms, which include:

-Seizures, which in Alpers patients are hard to treat and at times nearly impossible to stop.
-Episodic psychomotor regression or dementia (loss of developmental milestones)
-Liver disease
-Blindness and deafness can occur as well

One of the saddest things about this disease, and a few others like it, is that the symptoms don't show up immediately. In fact, the child begins to develop as other children do and then regresses, hence the loss of developmental milestones.

This disease is ruthless. According to one website, it can show the liver disease component as a sub-clinical issue for the majority of the time and then escalate into full-blown liver failure in almost no time at all. It is the liver disease/failure which often kills the patient.

I find it frightfully amazing just what happens in the cell structure of Autosomal Recessive disease patients. With each bit of research I do during this Summer Knowledge Project, I learn just a little more about how the body works. For example, most of us have heard about mitochondria in our studies once upon a time. Mitochondria form part of the basic cell structure and honestly I don't really remember much else.

Yet in the case of Alpers Syndrome, it is not directly the mitochondria that are the problem, but a gene called the POLGI 1, whose job it is to correctly copy the mitochondria. When this doesn't take place, the levels of mitochondria drop to devastating levels, causing them to become “sick” and resulting in misfiring mitochondria. This leads to brain and liver failure.

I'm simply awestruck by this disease. On one hand, our bodies seem so capable of healing, so able to bounce back from a fall. Entire bones can heal over time and cell tissue can repair itself if the damage isn't too great. Yet a single, seemingly simple, gene defect and the body dies. Sometimes it's too much to grasp. I can only imagine what it means for someone to have to go through this.

Because the prognosis for Alpers is so horrifying, I hesitate to write about it at all. After all, one of the key issues we talk about on this blog is hope. Hope is a hard thing to suggest when there are almost zero treatments for someone with Alpers. I shudder to think of meeting someone who has lost a loved-one to this disease, but one thing I know is that the Person I place my hope in is the same no matter what any of us have to experience.