2/27/2010 10:00:00 PM RAISING AWARENESS Today honors those with rare diseases, including Prescott Valley's Sheryl Colstock
Les Stukenberg/The Daily Courier Sheryl Colstock, center, spends some time researching items on the internet with her children Hector and Gehnesi in their Prescott Valley home.
Why is Rare Disease Day important?
Rare Disease Day is the perfect occasion to inform or remind people that rare diseases deserve special attention because:
• Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity.
• The rare disease patient is the orphan of health systems, often without diagnosis, treatment or research.
• The lack of specific health policies and the scarcity of expertise translate into delayed appropriate diagnosis and difficulty of access to care.
PRESCOTT VALLEY - By the time Sheryl Colstock turned 18, she had a feeling something wasn't right inside her body.
But not until she reached her mid-30s, in 2007, did doctors diagnose the Prescott Valley resident with three rare diseases for which modern medicine still has not pinpointed a cure.
Today, Colstock, 39, and millions of others will recognize Rare Disease Day, now in its second year. Those who are afflicted seek to raise public awareness for their plights in the hopes that the medical community will take a more serious look at ways to combat their illnesses.
For Colstock, 39, she suffers from acromegaly as well as multiple endocrine neoplasia and mixed connective tissue disease.
Acromegaly has caused a tumor to grow on the pituitary gland at the base of Colstock's brain, which forces her body to excrete large amounts of human growth hormone.
Among other things, the disorder has widened her jaw, which is creating gaps between the teeth in her lower mouth, and has enlarged her hands. She recently suffered a compression fracture in her back for which she has no explanation.
Every 28 days, Colstock receives injections that suppress her growth hormone levels. Even if the tumor were removed, she would still need treatment because it could grow back.
"My good days are getting more few and far between," said Colstock this past week, adding that doctors don't know what causes acromegaly, although genetics likely plays a role. "I can wake up and feel perfectly fine and an hour later I'm in bed and I can't move. It affects your memory and your concentration."
Multiple endocrine neoplasia, a genetic pre-cancer syndrome, is related to acromegaly. It causes the endocrine system, which secretes hormones that control and coordinate the body, to malfunction. It primarily affects the pancreas, parathyroids and pituitary gland.
"If it's not treated, eventually it will turn into cancer," Colstock said. "I'm going to have my parathyroids removed in the next few months."
On top of all of this, Colstock's mixed connective tissue disease brings on muscle and joint pain, which keeps her from moving around. Even the simplest of tasks, such as walking outside to get the mail, takes time.
***
Until recently, Colstock, a single mother with two children, had worked a pair of jobs that allowed her to buy a home and support her family. But her condition has gotten so bad that she is struggling to remain employed and is barely making ends meet.
"Up until 2008, I felt OK," she said. "I was able to hike and dance with the kids. We were very active. Now it's rare if we go anywhere."
Colstock expects to go on Social Security soon, but she will lose her health insurance. She visits her medical specialists once a month in Phoenix.
"Every day is hard, emotionally and financially," said Colstock, adding that she has grown closer to God over the past couple years. "I can't plan anything. I used to plan out everything to the minute."
At the moment, Colstock is more concerned about whether her 14-year-old daughter and 11-year-old son could inherit one of her diseases than what ails her.
"There's been a lot of stress on them," she said. "It makes me feel guilty."
Although her parents are healthy, Colstock said two of her brothers have multiple health problems.
"There's a 50 percent chance that my children will have multiple endocrine neoplasia," she said. "I'm trying to figure out how to come up with the money to have the genetic tests done for them."
Colstock receives assistance from her best friend and some members of her church, who built a wheelchair ramp at the front of her home so she could get in and out easier. She had been falling up and down the stairs.
As early as age 15, Colstock struggled with chemical imbalances and emotional/mental problems. Presently, between her three diseases, she has so many symptoms that she's been ill for the past week and a half.
She writes post-it notes to herself so she can remember what tasks she must complete each day.
"I don't do anywhere near what I used to do. I'm so fatigued. Every time I'm sick, I can't ever figure out what's going on," Colstock said. "So the doctors don't know which disease is causing it or what to do."
This morning, Colstock will turn her attention to Rare Disease Day. Weeks ago, she sent a letter to Gov. Jan Brewer urging her to make a proclamation that would officially acknowledge the day across the state. That hasn't happened yet.
"Very little is known about rare diseases," Colstock said. "Everyone probably knows someone who has a rare disease. We need more awareness and research."
For more information about Rare Disease Day, which is observed on the last day of February each year, log on to the Internet at www.rarediseaseday.org.
