Rare genetic disorder not so uncommon

Hereditary Hemochromatosis (HHC).

An uncommon name, but more common than people realize.

That's the message Pryna Koberstein of Lacombe wants to get out.

"One in 10 people are carriers and one in 300 are affected by it," said Pryna, who is the Regional Coordinator for the Canadian Hemochromatosis Society.

Pryna and her husband, Ed, learned about the genetic disorder of iron metabolism that causes the body to absorb and retain too much dietary iron, when he was diagnosed with it 22 years ago.

Back then, Ed was suffering with arthritis, a symptom of the little know HHC. Doctors were treating him for seven years before it was discovered his arthritis was actually caused by HHC.

Many doctors overlooked it because until only recently, physicians were taught that HHC was extremely rare.

If the condition is not discovered, the organs are damaged from too much iron and it can become life threatening as the individual affected may get Cirrhosis and liver cancer, congestive heart failure and diabetes.

Ed, who is a Lacombe Town Councilor, was thankful his condition was discovered when he was 48, but he says, ?a lot of damage had been done.?

When he was first diagnosed with the condition, he already had cirrhosis of the liver and doctors gave him only five years to live.

"That was 22 years ago, so things have come a long way," said Ed.

He also had to have both hips replaced.

"If I hadn?t, I would not be walking today," he said.

Before it was diagnosed, the condition caused him a lot of pain and discomfort.

"I couldn?t sleep. I would toss and turn all night long and was extremely fatigued all the time."

HHC is a genetic disorder and in retrospect, Ed says he sees that both his parents suffered from it, but it was diagnosed back then. His father died in his 50s from pancreatic cancer and his mother of diabetes, both symptoms of HHC.

"When we think back very definitely they probably had it but it was never diagnosed," said Ed.

HCC is a recessive genetic disorder. It is not necessary for parents to be suffering from it in order for their children to develop HHC. If parents are both carriers then their children are at risk of developing HHC.

When Ed was diagnosed, Pryna says, ?our children were young and we were concerned what it meant to them.?

The two children underwent tests. Their daughter has the genes but does not suffer from iron overload. Their son has both genes, and does suffer from iron overload.

"He caught it early enough, so he can live a normal life without any damage," said Ed. ?If it's diagnosed early enough then you avoid all the problems. If undiagnosed it?s fatal.?

Because both children were found with the genes, that meant Pryna must also be a carrier. She was tested and discovered to be a carrier ,although not having the iron overload.

Treatment consists of the regular removal of blood (phlebotomy) by the individual affected regularly giving blood. As the body makes new red blood cells to replace the ones lost during phlebotomy, iron is pulled out of storage from the organs, tissues and joints. Then, over time, the body iron levels return to normal level and the person can live a normal life without any complications.

Ed is able to control HHC by blood donations every two months.

But there are some activities he has had to abandon.

"There's lots of things I can't do. The last couple years, I didn't golf at all because it was not worth the agony afterwards, the arthritic pain," said Ed.

HHC is often called the silent killer because it is often overlooked as a possible cause of death post mortem. It is most common in people of Northern European, British and Irish descent and is caused by a gene mutation.

Symptoms include chronic fatigue, arthritis, liver problems, heart irregularities, diabetes, abdominal pain, and shortness of breath. Although it is not curable, early diagnosis can prevent the symptoms and damage to vital organs, allowing the individual to have a normal life span.

May is Hemochromatosis Month in Canada. Anyone needing more information can contact the Hemochromatosis Society at (604) 279-7135 or at www.toomuchiron.ca. Or locally, they can call Pryna at 782-6010.

Early detection is crucial and Ed says, "It's important that people push their doctor for testing. It's a very simple blood test and will confirm if there is an iron overload."

-editor@lacombeglobe.com