Notes from Norman

HEALTH CRISIS

On May 29, our youngest son Gary began noticing certain serious neurological symptoms, mostly severe headaches.. He went through a series of tests. They ruled out stroke and cancer, but they still weren’t able to come up with an explanation of his problem. This went on for several days with no improvement.

While we were on our way back from Texas following my aunt’s funeral, I received a call on the cell phone. In the course of the conversation, I asked him if he had mentioned anything about HHT to his doctor. HHT is the hereditary condition that I have, which primarily displays itself in frequent nosebleeds. While he had included it in his history, he hadn’t thought much about it because he rarely has nosebleeds. I pointed out that it is possible to have these lesions anywhere in the body, including the lung and the brain. I gave him a website www.hht.org where he could check it out further.

An hour later he called back and said, “Dad, my symptoms are exactly those of internal AVMs.” HHT is so rare that many doctors don’t know what it is, and others dismiss it thinking they are dealing with people who are hypochondriacs. No one knows how many people have HHT, but don’t know it because their doctor diagnosed it as something else. However, a large number of my family members suffer from the condition. You go to family reunions and talk about nosebleeds.

It took a little while to set it up, but Gary finally had testing. To make a long story short he tested positive for PAVMs (Pulmonary Arteriovenous Malformations). I’ll explain what this is later. Because the whole syndrome is such a rare thing, there are only a few centers in the country that treat it. It’s not curable, but it is treatable. At the present time Gary and Kelly are contemplating the possibility of further testing and treatment at the University of Utah Medical Center in Salt Lake City, Utah, which is one of the oldest and most competent centers. Hopefully they will complete scheduling this week. We need your prayers because he is in a high-risk situation. PAVMs can attack without warning and are potentially fatal.

TECHNICAL NOTE. Just skip this if you’ve learned enough already. HHT stands for Hereditary Hemorrhagic Telangictasia. It is a genetic disorder associated with several small AVM lesions of the skin, nose and GI tract. Some patients (Gary apparently) have larger AVMs of the brain, lung and liver. They are at risk for stroke or stroke like symptoms.

Much has been learned about this condition in the last ten to fifteen years. I’ve known that I had HHT since I was about forty. It is now known that any family member needs to be tested for AVMs when HHT is present in the family. Although a family member might not have any indication of HHT, such as I do with nosebleeds, it is possible for larger AVMs to be present in the lungs or the brain (the two areas of primary concern). I discussed this with my family physician when I went to him on Thursday. I am now scheduled to undergo testing for PAVMs and CAVMs (cerebrovascular malfunctions). I learned that we have a physician in our area that is both familiar with HHT and AVMs. He can read the tests and administer treatment if necessary.

On the lighter side. I don’t think I’ll be able to blame my forgetfulness on HHT. On the other hand, if it should prove to be positive, I’ve got a wonderful excuse to give Miz Ann.

posted by Norman @ 7:11 PM