I was excited when I woke to discover that Sheila Black had an opinion piece about living with X-Linked Hypophosphatemia (XLH) published in the New York Times this past week. My ten-year old daughter, Sanders, has what is considered to be a spontaneous case of XLH (meaning neither my husband nor I have the disease), and I will never forget the relief I felt when I first read Black’s “Why We Mourn” in her collection of poetry House of Bone. Her lines, “that body they tried so hard to fix, straighten was simply mine, and I loved it as you love your own country,” spoke to me in ways I find difficult to explain. And I hoped that my daughter would find similar peace about her body, her body that would be different from others’ bodies.
In addition, I understand and agree with the philosophical questions Black poses when she questions our culture’s seeming need to perfect ourselves, but I am also a bit uncomfortable with the implicit suggestion that medical intervention is somehow equivalent to norming.
It occurs to me as I write this response that all of my memories related to my daughter’s condition and the decisions our family has made related to her care are saturated with “bittersweet” emotions over what it means to be different in our society. My dismay at learning that my daughter had a rare disease. My anger toward myself for needing time to process my disappointment with this diagnosis. My delight at finding The XLH Network, Inc., an organization that has proven to be a lifeline for our family. My tears of joy when we found our doctor and the tears of guilt I cried knowing I was able to afford to take my child across the country to see this doctor and his amazing team when others were not. My relief when my child was accepted to the trial for KRN23, the drug that Black discusses in her piece. These emotions are constant and never far from the surface for me.
I suppose this, in part, explains my excitement about Black’s piece and the attention it brings to this condition. However, I also feel a need to share how my daughter and others have experienced the disease and the state of this newest therapy.
First, Black refers to KRN23, the antibody currently being tested in clinical trials, as a cure for XLH. Let me be clear about this: there is no cure for XLH. It is a genetic and chronic disease. My daughter will always have XLH, and, in all likelihood, her children will inherit the disease. This new drug will certainly enhance my daughter’s quality of life significantly. As a child participating in a clinical trial, she has access to the best care possible. She has grown more than a typical child with XLH. She experiences far less pain on this new drug than she did on her old treatment. And her quality of life is better in many ways because she is not taking medicinal therapy four and five times a day. In addition, her old therapy was ruining her kidneys, and from what experts can tell so far, KRN23 does not have the same harmful nephrological side effects as the traditional therapy for XLH patients. As a parent, I am beyond grateful that my child has access to such a life-changing therapy. But it is not a cure.
I was also somewhat surprised by Black’s emphasis on physical appearance. I do not know a single XLH patient—and because of my volunteer work with The XLH Network, Inc. I know a number of adults and children with this disease—who chooses therapy because they want to look more able-bodied or to ensure that they do not look different. The physical bowing that occurs in XLH patients is the most obvious sign of the disease, but it is not the only, or even the most significant symptom.
Many of the adults that I know with this disease, particularly those who did not receive treatment as children, are practically crippled by the pain of the disease. And because XLH is a rare disease, most of these patients have unbelievable difficulty simply getting insurance to pay for the traditional therapy, much less pay for what is certainly going to be an expensive treatment assuming KRN23 is approved by the FDA. And the fight for assistances such as disability when the pain becomes so severe that these patients can no longer work is one that is discussed often on our online support forum.
So, no, I am not seeking treatment for my daughter so that she looks like everyone else. She will never look like everyone else, and she seems very comfortable in her short stature and with her special bones. The child is quite fierce. But I cannot deny that I am relieved that she might experience less prejudice in her personal and professional life in part due to the fact that her body is responding to this drug so positively, even if I disagree with the suggestion that “the main reason a cure is deemed necessary is that [she looks] different.”
It is also important to recognize that I am viewing this disease and this new therapy through an entirely different lens than Black. I do not have this disease; my child does. But I have dedicated my time and my resources to helping those who do. I cannot offer much in the way of either, but as a parent who had to wait over six months to figure out what was wrong with my child, I am extremely cognizant of the need for medical advancement when it comes to diagnosis and treatment of this disease.
As a volunteer for The XLH Network, Inc., I am constantly aware of just how much others are hurting from this disease—many of them experiencing far more than my child will ever comprehend.
And as a teacher and a writer, I understand the power of words. Rare. Special. Different. Cure. I also understand the importance of stories. I have dedicated my professional life to stories, so I understand Black’s desire for these stories of what it means to live with XLH, of what it means to be different. But I am also confident that my daughter will always know what this means, and I am proud that I volunteer with an organization dedicated both to preserving those stories and to helping change them in meaningful ways.