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Running, Rare Disease, and Insurance Obstacles

My daughter is going to run in two different events at a track meet today. The fact that I spent the morning preparing to sit outside on a beautiful spring day to watch this child sprint around a track in south Mississippi is a bit surreal. It was just five years ago that when she would run the Presidential Fitness run at her school, I would run alongside her and try to get her to stop because she was crying in pain as she finished the run. I never could, however, get her to quit. She has always been a competitive and determined child—qualities I knew would she would need throughout her life.

What I did not know, was that, as a parent of a child with a rare disease, I would need some of these same qualities in order to navigate the world of insurance and payers. I understand pre-existing conditions; as an epileptic myself, I knew from a young age that I could never go without insurance, or I might be denied coverage for my epilepsy. But I did not expect that after my daughter spent years in a clinical trial, helping to pave the way for a breakthrough therapy, a life-altering therapy, that I would need time, determination, and emotional and intellectual fortitude to deal with insurance companies whose primary goal seems to be to pass my daughter’s case around in an effort to find someone else to pay for her therapy.

The therapy is expensive, like most therapies for rare diseases. When there are fewer patients, it costs more per person. That is simply how cost calculations work. But as a professor at a state institution, a state employee who pays $700 monthly for family insurance coverage, I did not expect to be one of the patients who was passed around like a hot potato. Yet here we find ourselves.

Coverage denied because it is not medically necessary. Appeal. Approval. Coverage denied again because it should be pharmaceutical insurance and not medical. File with pharmaceutical insurance. Denied. Appeal. Approval. The compounding pharmacy being used is not in network. Appeal. Home health administration should not be necessary. Appeal. New compounding pharmacy. Approval. New home health company. New nurse for my daughter who had the same nurse for four years. Approval. New compounding pharmacy is not in Network. Denied. Phone call the day before a scheduled dose saying that the nurse will not be able to be there because the coverage will not pay. Appeal. Note: The home health nurse came to my house this morning anyway. Her manager was distraught that the company refused treatment less than twenty-four hours before a scheduled dose.

Ironically, my daughter was also denied coverage for her original therapy, an inexpensive but substandard care for a child with this disease. Our insurance claimed that it could not pay because the traditional therapy (well documented in medical literature) was simply an expensive supplement. This original therapy was doing some good but also causing nephrocalcinosis in her kidneys, so we were excited (even if overwhelmed) when we had the opportunity to participate in a clinical trial for a therapy that seemed to have the potential to treat the root cause of the disease and address aspects of her chronic condition that the former therapy could not and without the problematic side effects of the previous therapy.

If you are still reading, please read this next part of my post and consider sharing it in the political venues that can make changes to our broken system:

Our daughter is a fighter. She was diagnosed with a rare, metabolic bone disease at the age of two. We fought to get her the best of medical care, leaving our state (which at the time had only one pediatric endocrinologist) and traveling to teaching hospitals across the nation. At the age of seven, she willingly joined a clinical trial knowing that it meant traveling regularly to Yale Medical Center for XLH, leaving her friends, school, and activities, being poked and prodded, and being asked to out herself as different than those around her. At the age of ten she testified in front of the FDA. When she was eleven the FDA approved this life-changing therapy, and she got to celebrate this win and know that she was part of it. At the age of twelve, she does not want to be known as different any more. And, in many ways, this therapy has made that possible. You can no longer look at her and know that she has a rare disease. She no longer has to sit down and take breaks because she is in chronic pain.

She has fought her fight, but now I will fight mine.

We are blessed to be a part of a vibrant medical advocacy organization, The XLH Network, Inc. We are thankful that the company, Ultragenyx, that manufactures her therapy is a patient-focused company, and that they have created a patient advocacy arm to assist families dealing with these difficulties. We are grateful that our daughter has the best medical care team in the world. We are lucky that my husband and I both have jobs that are flexible. I can take two hours out of my day each time we receive a rejection, a denial, a new obstacle. And we are educated about the disease, the therapy options, and the system; we have the cultural capital to play this game. But, here is the deal, many people do not have all of these resources. Many parents do not know that this therapy can alter their childrens’ lives. Many of them will not know that they need to or can fight an insurance system that is rigged against them.

I am getting tired of the fight, but I will continue, and I am thankful for those who support and sustain me along the way. I will fight for my daughter and for those who are not able to fight, who may not even realize that they need to do so. Our system is broken. It has not broken us, but it will break others. We need change.

Today I am going to sit at the track and watch my daughter run. And for that I am more thankful than you can possibly imagine.

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