Archive for February, 2013

Woodstock woman raises awareness about rare diseases

By Heather Rivers, Woodstock Sentinel-Review
Monday, February 25, 2013 4:59:38 EST PM

Kim Schram is one in a million.

Diagnosed at 29 with primary pulmonary hypertension, the Woodstock woman’s chances of having the disease are so slim it is what is known as a rare disease.

“They don’t know why I have it — to get it and not know why is one in a million,” she said during an interview Monday. “I can’t win the lottery but I can win the primary hypertension lottery.”

Schram, 33, spoke out about her disease in advance of Rare Disease Day that takes place on Thursday, February 28.

To date 6,000 to 8,000 rare diseases have been identified, with about 80% believed to be of a genetic nature.

For many there is no cure.

For Schram there was years of pain and dozens of tests and procedures before doctors first identified that she had a thyroid problem and then primary pulmonary hypertension.

“I was tired all the time,” she said. “I’d climb the stairs and be so winded, I’d have to sit down.”

It took three years before it was finally determined she had pulmonary hypertension, which causes cells in the walls of the lung’s blood vessels to grow at a faster rate, making it harder for blood to flow through the vessels.

“You heart has to work twice as hard,” she said.

Doctors said they thought it could be her body’s autoimmune reaction to her thyroid problem.

At 29, happily married and raising a five-year-old daughter named Grace, she found herself diagnosed with a life-threatening disease.

“I was just starting out life, “ she said. “We’d just bought a house and I found out I was sick.”

While at some point in the future she may require a double lung transplant, right now her medication, which includes high doses of calcium channel blockers, is doing its job.

“For me to be this sick and have this work, I’m feeling super, super lucky,” she said.

Besides the medication, Schram also credits having “a positive attitude” for helping her deal with the disease that has drastically changed her life and forced her to stop working.

Also, she said, life spans of those with the disease, have dramatically increased in the last ten or so years.

“It’s one of those things, you have to keep thinking positively,” she said. “You start thinking about what is important and what is not important.”

What she will say is that because she is sick but looks young and healthy she is at times put in a difficult position, such as when she parks in a disabled parking space.

“People will say you can’t park there, they just say I’m being a jerk,” she said. “It’s frustrating because I don’t want to park there.”

Her lungs can’t handle the cold or any kind of exercise that would increase her heart rate to over 100 beats per minute.

“It’s the little things you take for granted, my daughter wants to play but I can’t run around,” she said.

Her diagnosis also means she will no longer be able to have children.

“But I have one perfect kid,” she said.

One of the reasons she hopes to raise awareness about rare diseases within her community is because, “just because you don’t look sick, doesn’t mean you aren’t sick.”

“Instead of saying something rude when you’re in that spot,” she said. “Don’t be so judgmental.”

She also advises people to listen to their bodies if they feel something is wrong, and work hard to make those in health care pay attention.

“You know you own body, I knew something wasn’t right,” she said.

Source: http://www.woodstocksentinelreview.com/2013/02/25/woodstock-woman-raises-awareness-about-rare-diseases