30 years woman not races time to Find a cure for Rare form of cystic fibrosis: ‘Straight Out of Our reach”

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For most, there is always a revival to 17 classes shows. The opportunity the brand that last year a careless drop of puberty, looking directly at the threshold of adult life and one world of exciting change. But for the ball sinaide, PA Emily Kramer-Golinkoff, diagnosed with a rare form of cystic fibrosis at six weeks old, in a cloudy day marked a turning point.

“At a time when the life expectancy of patients with cystic FIBROSIS was about 34 or 35,” she tells PEOPLE. “I realized that I’m in a half point and I thought, ‘I’m not ready, in my midlife crisis.’ ”

Apparently, Kramer-Golinkoff, now 30, is nearing the end of its lifetime. But that could change, thanks to innovative research that helps to facilitate through funding through their non-profit organization, Emily’s entourage, and donations from tens of thousands of its own cells of the body are laboratories around the world.

Until that moment, “there was very little in the development process of medicines for research or for people with my mutation,” she says. But the recent successes of other CF mutations “has shown that it is possible and light a fire in my belly, so dream a reality for all people with cystic FIBROSIS.”

Emily Kramer-Golinkoff to take a break for treatment, while he will be a bridesmaid for a friend’s wedding in June 2014.

With The Kind Permission Of Emily Kramer-Golinkoff

Michael Kramer Golinkoff and Lisa knew from the start that something is not quite right with her, as a cherub with the face of a girl with jet-black hair. Six weeks after his birth, Kramer-Golinkoff developed a bad cough and the roots grew dark hair blonde, the Declaration of the key from malnutrition. At first, doctors suspected pneumonia, but the welding test with the high salt content found in the child’s sweat is a leading global brand with cystic fibrosis.

“We froze” Golinkoff, – she recalls. “She was our first daughter, and Lisa all did during pregnancy to improve the health of the child. I remember once to ask, ‘will you be able to play football?’ I don’t even play football. I think I was just trying to ask if I’m a normal childhood.”

Fear has been shown to be unfounded, since, as Kramer-Golinkoff success was, of course, positive and motivated an intense young woman, received a master’s degree in bioethics at the University of Pennsylvania in 2013, and their efforts can only help a revolutionary way to treat CF.

Cystic fibrosis is a progressive and life-threatening genetic disease that affects the lungs and digestive system. Develops if CF is not responsible or gene in the body leads to production of skin cells, is erroneous protein in the lining of the lungs, stomach and intestines, sweat glands and genitourinary system (the reproductive system and urinary tract). This protein changes the body’s natural balance of salt and water necessary for normal, thin layer of fluid and mucus in the lungs and to other organs. Mucus, trap and remove the microbes, and instead delayed thickening, airway obstruction and activation against infections. Babies prohibited complete digestion, even with breast milk about as well.

Kramer-Golinkoff, refers to the ability of the lungs when only 35 percent, are managed with three to six hours to clean the airway and respiration – daily treatment. It brings the use of an inflatable vest, which literally shakes her solve the body of mucus from the lungs. In the hospital for frequent and daily antibiotics stay aggressive fight infections almost constantly.

Emily Kramer-Golinkoff, take a selfie with a therapist of the respiratory tract during treatment in 2015 Saint Joseph Hospital in Denver.

With The Kind Permission Of Emily Kramer-Golinkoff

While most 1.900 gene mutation of cystic fibrosis are common, some are very rare, affecting about six percent of the total population with CF. Between them “mutations,” which are less than 10 per cent of 70,000 diagnosed CF falls around the world, including Kramer-Golinkoff is.

In recent years, approved the development of two innovative products, the FDA, gave hope to patients with CF. Kalydeco, approved in 2012, is the first, which is the basis to effectively solve the defect too, CF, and not only the symptoms, but it works only about four percent of the total population with CF patients with the mutation in particular. In July, the FDA approval Orkambi, announced, is expected to help that more than half of patients with CF. Still it was still a holiday sweet for Kramer-Golinkoff, because none of these drugs are the benefits that the mutation is absurd.

Decisions in the future
In the spring of 2011, Kramer-Golinkoff and friends of the Foundation took part in the cystic fibrosis-CF annually increase fundraising, which means the computer is up and sacrifice down the stairs. The nickname “Emily’s entourage,” the device is easy high of $8.000. To see that the figure originated with an idea.

“We realized that we rise when we are far away, without trying really, imagine what you could do, if we said our heart and soul behind it,” Kramer-Golinkoff, he.

In the end, and her loyal team, your family, friends and doctors, Emily’s entourage turns the team to the casual fans in non-profit organization making waves in the investigation of CF.

Emily Kramer-Golinkoff visit the Roman Colosseum in June 2015 dream vacation in Italy.

With The Kind Permission Of Emily Kramer-Golinkoff

After a few years, this small, all volunteer organization was considered impressive $1.5 million dollars here, two important symposia with leading positions in the study of MV patients and treatment were, and landed Kramer-Golinkoff conversation in the White house as a champion of Change in precision medicine. Emily’s Entourage at the present time to assist in the financing and promotion of research conducted at the University of California at San Francisco; University of Alabama at Birmingham; and Quebec, Canada, McGill University.

Kevin Foskett, PhD, the President of the University of Pennsylvania, Perelman School of Medicine Department of physiology and a member of Emily the result of the Scientific Advisory Board, funds Kramer-Golinkoff donations, their cells as an important factor in accelerating the treatment.

“These cells can be amplified into millions and billions of cells stores that are used all the original properties and can, and researchers, the company for the gene therapy,” he tells PEOPLE. “One way to solve this problem, simply replace a gene mutated, and mutated.

Emily Kramer-Golinkoff.

Cheyenne Gil

Another source of hope is that at least four major pharmaceutical companies are developing drugs for cystic fibrosis. Sanofi, Novartis, GlaxoSmithKline and Vertex Pharmaceuticals they are all drugs of the second generation, and now there is no evidence that the drugs that are already on the market, can work in Emily, if you could just a little better.”

Perhaps Emily critical the result of the efforts of your success, you are putting a pretty face in an ugly thing. In the case of the question: the tubes fill testing laboratory at USCF all marked random alphanumeric codes, with the exception of marked with your name.

“It’s very motivating, because it shows that you understand that your research is relative to the person, the family and community. It is not only labour day,” said Kramer-Golinkoff, balancing your day job in Social media Penn And health Innovation Lab about 20 lectures throughout the country each year. “The only thing about CF is not that the end is not far off. Treatment just outside our reach. In the near future, he could see how people with this disease to live in old age.”

We hope that the treatment Kramer-Golinkoff experience comes with many more birthdays.

“We sit to make a birthday”, his mother says hesitantly. “We celebrate every second of the day.”