Doctors believe Regina man has disease with only a few dozen cases worldwide

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Doctors believe Regina man has disease with only a few dozen cases worldwide

Shaun Mittelholtz didn't know something was wrong until he began coughing up blood about three years ago.

It was the beginning of a complicated medical journey that he says propelled him near death and sparked several unanswered questions.

In 2016, he fell ill while living at his mother's house in Sault Ste. Marie, Ont. 

Shaun says that's when he saw traces of blood in his vomit, so his mom took him to the hospital. He says the doctors diagnosed him with pneumonia.

Not long after, Shaun moved in with his father in Regina, and then took a trip to Moose Jaw to visit his grandparents.

"On the second night, I started coughing up a lot of blood again," he said. 

Shaun was brought to Regina by ambulance. 

"The first week I was unconscious. Second week I was loopy from the painkillers and I was out by the end of the third week."

Shaun, now 24, and his family say the doctors were unsure of his condition. But then one of the doctor's found a description of Hughes-Stovin syndrome, a rare disease with only a few dozen documented cases worldwide.

It seemed to fit. 

"They started kind of explaining it to me and the more they explained the more lost I got," said Shaun's dad, Ken Mittelholtz.

The family says the condition severely strains Shaun's respiratory system.

Shaun described it as "a rare form of Behcet's disease," a rare disorder that causes blood vessel inflammation in the body, according to the Mayo Clinic in the United States.

"However, it's more general problems with the circulatory system," Shaun said. "I have a blood clot in my superior vena cava and multiple aneurysms in my pulmonary arteries, he said.

Several of those aneurysms were treated so they wouldn't burst.

"I almost died from this but I managed to pull through, and with the aneurysms​ coiled there's much less of a risk of that happening again."

Shaun says he's often exhausted and has had a bad cough for about six months. 

"All you can do is take it in stride, just take it as it comes along, because so much of it is not understood," he said. 

"They don't know what causes it. There's no satisfactory cure for it — but the treatment I'm currently on is based on what worked on a patient in the U.K." 

His stepmother says the medication, Remicade, is given through an infusion at the Pasqua Hospital every six weeks. He's hopeful the condition will be better understood one day, "because I have three nephews back in Sault Ste. Marie and I really don't want any of them to catch it." 

Dad wishes he had answers

Like his son, Ken struggles with the unknown.

"Where did it come from. There's no answer. You ask the question: 'Well how did he end up with it?' There's no answer," he said.

"When your child is small you can take care of a cut or a bump or a bruise and everything, and you're the hero. You made it all better for them. You can't do that with this."

He calls the situation scary "because you don't know what's going to happen next with him."

Shaun was recently diagnosed with pulmonary hypertension — a health problem the family says stems from his condition. 

The setback has been difficult, Ken says. 

"They said that he was in remission," Ken said. "They said that he was one of eight survivors in the world of (Hughes-Stovin syndrome)." 

The family is waiting to hear whether Shaun will be able to undergo surgery in Ottawa for the pulmonary hypertension. 

Ken says treatment in Saskatoon or Edmonton are also a possibility if Shaun doesn't go to Ottawa., because the family wants Shaun to have a shot at a normal life. 

Shaun's step-mom, Rosalinde Herman, has launched a Go Fund Me campaign to raise money in anticipation of travel and medical expenses.