Desperate couple caught in ‘hideous quick sand’ of health care restrictions

Sean W. Malone Producer and Composer
Font Size:

Three years ago, Burlington, Vt. resident Rachel Phillips pulled a muscle in her shoulder. As a professional ballet dancer who had danced with The Royal Ballet in London, injuries like this were common.

After weeks of continued pain, Rachel’s doctor discovered that what originally looked like a simple sprain was in fact a tendon so torn that the muscle was nearly detached from the bone.

This is when the 31-year-old dancer learned that she had a debilitating genetic connective-tissue disorder called Ehlers-Danlos Syndrome (EDS). Doctors now believe that without treatment, Rachel has less than a year to live.

EDS affects certain types of collagen and makes sufferers susceptible to constant nervous-system pain, frequent hyperextension and dislocation of joints, potential arterial ruptures and many other health nightmares. Therapies are available, but there is no cure.

And surprisingly, the Food and Drug Administration and the National Institutes of Health are standing in the way of Rachel getting the help she needs.

Rachel’s most immediate problem is that the connective tissue in her windpipe is collapsing, making breathing increasingly difficult. But with a new procedure developed by Dr. Paulo Macchiarini at the Karolinska University Hospital in Stockholm, Sweden, a new trachea can be grown from stem cells taken from Rachel’s own bone marrow. (RELATED: Dueling research: Smoking curbs obesity, but should still be reduced)

The FDA has not approved this procedure in the United States because of the controversy surrounding fetal stem cell research — even though the cells used in this procedure do not come from human embryos.

Dr. Macchiarini has traveled to Vermont to interview Rachel, and he believes she is a prime candidate for a trachea transplant. If all goes well, Rachel will be the twelfth person, and the first American, to undergo this surgery. But before the process of growing a new trachea can begin, Dr. Macchiarini first needs to extract some of Rachel’s stem cells and test those cells. And that testing procedure must be approved by the NIH before anyone can perform it in the United States.

Rachel’s husband, Steven, says the NIH has not been helpful. “They don’t say no to you,” he told The Daily Caller. “They say ‘we’ll try to devise a path so that you can do this,’ but by the time they finally review our case, it will probably be too late.”

Dr. Macchiarini believes Rachel has just six months to live without treatment. He would like to be able to harvest Rachel’s stem cells as quickly as possible so that her treatment can begin in time to save her.

“So far, NIH’s delays have used up six weeks of that time,” Steven Phillips told TheDC. “Or, that’s about 25 percent of the time we have left, just in getting a date set that they would accept the stem cells for testing. We are told that to grow up a plate for [laboratory] analysis takes from four to six weeks.”

After the NIH has the stem cells, “committee reports” are required, Steven added, describing the process as “a hideous quick sand of bureaucratic mismanagement with someone’s life at stake.”

“Both our pulmonologist and Dr. Macchiarini feel that the amount of time required to jump through those hoops makes that route untenable, and Rachel will be dead before it could all be accomplished,” Steven Phillips told TheDC.

He is noticeably disheartened by the bureaucratic runaround. And although he says he’s never had much interest in politics, the experience has driven both Steven and Rachel toward greater political involvement. “It’s a situation where the bureaucracy of our government steps in and puts a hold on your right to choose your health care,” he says.

Even if Rachel’s approval does not come in time, the financial hurdles she and her husband will face are enormous. Dr. Macchiarini has generously agreed to perform the surgery at no cost if Rachel can get to his state-of-the-art facility in Sweden. But because Rachel is, as Steven puts it, “two minutes from being dead if her airways close,” the cost of flying her to Europe is extremely prohibitive. A discounted low-altitude “mercy flight” costs $80,000, and hospitalization after the transplant will add as much as $300,000 more.

Rachel and Steven have already spent more than $200,000 on medical expenses, and they have exhausted the limits of their available health insurance benefits. Twenty-three separate insurance companies have rejected Rachel’s applications for treatment. They forge ahead, though, exploring options through grants and charitable organizations in the U.S. and Europe.

Friends have set up a website, www.helprachelbreathe.com, to chronicle the Phillips family’s experiences. The site offers an opportunity to petition the FDA to reconsider its limitations on adult stem cell-based treatments. It also collects private donations to help Rachel and Steven cover their medical expenses.

Steven, a Christian minister, says he still believes that “everything happens for a reason,” and that his wife’s wrenching ordeal has driven them both toward a stronger faith.

Rachel promises that she will continue to fight her disease. “I have really come to a place where I’m not afraid of dying,” she says, “but I don’t want to leave Steven yet.”

Follow Sean on Twitter