Supports needed for patients with rare liver disorder

It's hard for Dennis Bear not to feel completely alone at times.

The Flying Dust First Nation man has a two-and-a-half-year-old daughter named Summer Angel with a very rare disease -one so rare that only 42 people on earth have it.

Since being diagnosed with Hyperornithinemia-hyperammonemia-homocitrullinemia,,better known as Triple H Syndrome, Summer has had to undergo several treatments and countless blood tests.

Triple H Syndrome is a strain of urea cycle disorder, which Dennis explained is a specific dysfunction of the liver.

"It's a protein imbalance," said Bear. "Her liver does not function the way that it should."

According to the National Urea Cycle Disorder Foundation (NUCDF), a support organization based in the United States, "a urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream."

Bear explained that amino acids can build up, causing ammonia to enter Summer's bloodstream, which can be very toxic.

"It's quite alarming how fast everything can happen," he said. "Right now her food intake has to be monitored so closely, and she can only have a specific formula."

He said there are times when Summer refuses to eat anything.

"Being so young, she needs adequate nutrition," Bear said. "She has had to have a tube going into her stomach that has a mixture of powder and liquids. Unless she eats, that's the way it will have to be. It's not a real good option. I'd like to have my daughter for a long time."

He said that he soon hopes to be able to get special foods for Summer. Currently those foods are only available in the United States.

The discovery that Summer has Triple H Syndrome was made when the little girl was getting an operation to repair a cleft palate.

Ever since the moment he found out Summer has the disease, Bear has been doing everything he can to help her. Since the middle of last year he has been raising funds that allowed him to attend the 2006 NUCDF Family Conference that was held in Cleveland, Ohio from July 7 to 9. There he had the chance to speak with urea cycle disorder experts, as well as meet some other people who are affected by different variations of the condition.

Although Bear said the information he learned from the conference was valuable, there was not a lot of specific discussion of Triple H Syndrome.

"I did get to speak to a few doctors, dieticians and food experts one-on-one," said Bear. "Most of the conference was spent on other types of the disorder."

Bear said that he's had a tremendous amount of support from doctors here in Canada, having taken Summer to hospitals in Saskatchewan, Alberta and Manitoba. But there are limited treatment options available in this country, and there is no established support group for families going through similar experiences.

"I've been told that there are eight other cases of this in Saskatchewan alone," said Bear. "Of course, doctors cannot release names of people for confidentiality reasons."

He said by making an appeal to the public, he hopes to have other families affected by the disorder come forward.

"I want to spread the word as far as I can so then others who are feeling alone, like I do most of the time dealing with this, can get together and start networking. My goal is to start being able to have more resources available in Canada."

Bear said he is strong most of the time because he has to be, but that he cannot put into words how hard this has been for him.

"I just want the best for my family," he said. "I want Summer to be able to have her childhood."
Anyone wanting to contact Dennis Bear about setting up a Triple H Syndrome support group can call him at 240-9668 or 251-0711.