Young Durangoan helping others learn about Cystic Fibrosis

DURANGO, Colo. – As Jen Heinicke notes of her daughter Annelise, “If you didn’t know, you wouldn’t know” that the vibrant, inquisitive four-year-old has cystic fibrosis.

“One of the pieces the doctor gave us was, she can do anything she wants to do, and don’t hold her back,” said Heinicke, a medical doctor specializing in internal medicine, whose part-time “job” has now become the center for local CF fundraising. “She’s doing great. I think living in a small town, people are already protective of her. She has this endearing quality were people want to take care of her.”An inherited chronic disease that affects the lungs and digestive system, cystic fibrosis (CF) was, some 50 years ago, akin to a death sentence during a child’s first few years of life. Today, however, thanks to continual research and dramatic breakthroughs, average life-expectancy of CF patients has reached 38, with every hope of a cure on the horizon. In addition, advances in treating symptoms have improved, with Annelise a walking example of what life with CF can mean.
But Annelise is far from a victim. Diagnosed as a newborn, her life has always included the treatments and routines that control the symptoms and infections that are a result of CF. As she’s aged, she’s come to realize the CF makes her “different” from other children. Thus far, however, her experiences have been positive, as her friends at the St. Columba pre-school she now attends are curious and not cruel.
“I think as you go along you realize how many people are affected by different things,” said Heinicke, praising the administration and faculty at St. Columba for their conscientiousness in learning about various diseases and disorders. “There are kids in her class who have seizure disorders and other things. Everybody’s dealing with something.”
Annelise takes an active role in her own care, not shy about explaining the necessary handfuls of pills taken throughout the day or her “bumpy vest.”
“It is a device that helps loosen up the mucus in the lungs,” explained Heinicke of the vibrating vest that Annelise wears twice a day for 20 minutes at a time to loosen the mucus in her chest. Annelise has grown so accustomed to the motion that when her father, Courtney Heinicke, a local dentist, places it on her in the early morning, she sleeps right through.
“When it’s ready we push all the buttons that we need to,” explained Annelise, as she modeled it and spoke with the “bumpy” voice that has led to the device’s nickname. A nebulizer is used at the same time to further aid in breaking up the mucus.
CF is a result of a defective gene and its protein product that cause the body to produce unusually thick, sticky mucus. Most well known to laypeople is its impact on the lungs, though the disease affects any mucus-secreting glands in the body – including the pancreas.
“When the pancreas gets clogged up, it prevents the enzymes that help you digest your food from getting to the stomach,” said Heinicke. “Before they had newborn screening, children weren’t diagnosed until they were two years of age and by then they were way under-nourished, and it had affected their brain cells. Clearly she’s not under-weight.”
“I can eat anything I want to eat,” said Annelise.
To absorb nutrients, Annelise must take three capsules each time she eats – six times a day – which provide her with the digestive enzymes needed. And, though it seems counter-intuitive in today’s weight-conscious culture, she’s encouraged to eat a high fat, high salt diet because her body burns more calories. While not currently an issue with her peers, this is something that is affecting older girls with CF, according to Heinicke.
“They (CF patients) don’t want to eat what they’re supposed to eat because all their friends are eating salads to try to be skinny,” said Heinicke. “Eating disorders are much more common in girls with CF because if they want to lose weight, they can just stop taking their enzymes.”
During those rare times that Annelise rebels against the pills, or forgets, she experiences a stomach ache, so not following the protocol comes with a consequence.
Neither Courtney nor Jen, who began dating in high school, were aware that cystic fibrosis ran in their families – and it has to have been both for it to manifest in Annelise. Jen had been aware of CF and active in supporting research efforts most of her life as the daughters of her father’s best friend have the disease. They are now in their late 20s.
“It’s something that we’ve always been familiar with,” said Heinicke, who notes that their six-year-old son Leland isn’t even a carrier. “We just didn’t realize it was going to be such a big part of our lives.”
 

Nationally the Cystic Fibrosis Foundation has been the driving force behind the pursuit of a cure, and annually chapters across the country hold the “Great Strides” walk to raise funds. Durango doesn’t currently have a CF chapter, or a fundraising walk, but the Heinickes participate in the event held in Colorado Springs. The lack of a chapter in Durango hasn’t, however, meant Jen hasn’t raised awareness and dollars locally.
Before the unfortunate downtown fire that destroyed Seasons Rotisserie Grill, owner Karen Barger hosted a wine dinner and auction, which, according to Heinicke, has raised more than $50,000 over four years. Hopes are to resume the tradition once Seasons reopens. Filling in the void this coming winter, proceeds from the San Juan Stage Race (http://sanjuanstagerace.com/), the dog sled race run from Mancos to Dolores, will benefit CF.
“And a former patient contacted me about doing a golf tournament at the Glacier Club,” said Heinicke, explaining that the patient’s grandson has the disease. “He didn’t realize my daughter has it. Hopefully we’ll be able to do that next spring, and make it a national event. He’s hoping to bring Boomer Esiason.”
Former NFL quarterback Boomer Esiason, whose son Gunnar has CF, has been instrumental in raising awareness of the disease, as well as funds to help families pay for the necessary treatments.
“We’ve kept Annelise on all the cutting-edge stuff, and we luckily have good insurance coverage, but a lot of people struggle to make the payments,” said Heinicke pointing to a genetically engineered medication that Annelise inhales to help break up the mucus. “If you were to pay for this out of pocket, it costs $1500 a month. So if you don’t have insurance coverage, you spend all your money until you qualify for Medicaid, and even then you may or may not get it. The CF Foundation and the Boomer Esiason Foundation are very helpful.”
 
Until fairly recently, research efforts surrounding CF have focused on treating the symptoms. While this is necessary at this time to help those with the disease survive, research has progressed to an understanding of what happens on the cellular and molecular level.
 
“They’ve figured out that there are more than 2,000 mutations of CF, and there are four different classes,” explained Heinicke. “And each class of mutation has a different mechanism of defect. So now they’re targeting that specific defect and trying to fix it.”
 
Heinicke added that though only an estimated 35,000 children and adults in the United States (70,000 worldwide) are afflicted by CF, the research and drugs designed to “switch on” the specific defects are relevant to diseases such as Muscular Dystrophy and even cancer.
“So you’re not just funding research for CF,” said Heinicke. “The advances we learn in CF are applicable to all these others.”
A clinical trial is underway for a new drug that will address Annelise’s specific mutation, and, reportedly, patients have seen improvements in just a couple of weeks. Hope is for trials to be held for Annelise’s age group in 2009.
 
Until that time, the Heinickes live their lives with as much normalcy as possible. Annelise dresses like a fairy princess, and when given a microphone, she likes to sing. According to her mother, she’s fascinated with medicine and the human body – able to identify from illustrations in a book, parts of the anatomy affected by CF. She even watched a clinician withdraw blood from her arm – asking for more blood to be drawn from her other arm so she could see if it looked different.
“Having taken care of people with chronic illnesses, I see a lot of people where it becomes their whole life,” said Heinicke, who has moved from private practice to Mercy Regional Medical Center. “So, how do I prevent that from happening (to Annelise)? How do I make sure she doesn’t feel entitled because of her illness, or feel like a victim because of her illness?”
Heinicke found the book that has given her the answers, Parenting Children with Health Issues, www.parentingchildrenwithhealthissues.com, which she recommends to parents with children suffering from any type of chronic illness.
She’s also quick to add that many gifts have come along with the CF. In addition to a growing circle of generous friends and special time spent with Annelise, “we live in the moment,” said Heinicke. “If we want to take a vacation, we go. We just never know, so we go.”