My 10-year-old daughter, Natalie, has been officially DNA tested and is a carrier of the hemophilia gene. This wasn’t particularly surprising or upsetting to my husband or myself, or even Natalie. For a child, she has a remarkably good grasp on the genetics of hemophilia and she understands what it means to be a carrier. Her father and I have long suspected that she was a carrier because she has fantastic nosebleeds that simply can’t be explained away due to the dry climate in Colorado.
What has been the most frustrating in Natalie’s journey to diagnosis is that we still don’t have a good “rank” for her. So often in the bleeding disorders community, we identify by our diagnosis. I’ve joked that introductions at community events often go something like, “Hi, my name is Sonji and I have a son with severe hemophilia A with inhibitors and I have mild hemophilia.” And I can say that definitively: DNA testing has confirmed that I am a carrier of the same gene defect my son has and the average of multiple factor activity level testing has proved my factor VIII levels well within the range of the 5-49% activity levels mild hemophilia patients have.
But I can’t label Natalie as anything other than “carrier,” making it difficult to develop a good treatment plan for her nosebleeds or even to decide if we should have her wear a Medic-Alert bracelet. If she did wear one, what should it say?
Natalie has had a few factor activity level tests done and her levels appear to be in the 50-150% normal range. Unfortunately, those tests can be skewed by stress, and she certainly has been stressed out about the needle pokes involved to draw the necessary blood. Our providers have also told us that they would like to monitor her levels throughout puberty because the fluctuating hormones could affect the results.
Most recently, Natalie’s right knee started bothering her one evening. She had not twisted it, or jumped on it, or done anything unusual or strenuous. I gave her an ice pack and hoped that it was just sore. The next morning she was still complaining of pain, though. By the time I picked her up from school that day, she was in tears from the pain. Her knee was a bit swollen, so we decided to use a brace on it to help provide some compression. On the third day of knee pain, I called the HTC, because it finally dawned on me that this could be a bleed. Our providers saw her and basically drew the same conclusion: it could be a bleed, but her factor activity levels are such that giving her a dose of factor could put Natalie at risk of over-clotting. Together, we decided to continue the brace and have Natalie use crutches to try to rest her knee as much as possible.
I don’t begrudge that treatment decision; I think given the diagnostic testing we have done for Natalie it was a good call. If I had not agreed with it, I would have strongly advocated for her to get a dose of factor before we left the HTC that day. But since then, I’ve struggled with understanding how that’s the best we can offer patients, especially female patients, in this day and age. Her knee did heal after about a week of pain, but what if it was a bleed? Going untreated puts her at risk for permanent joint damage. Is “wait and see” the best we have? How is “wait and see” going to help her, if God forbid, she is involved in a car accident and isn’t wearing a Medic-Alert bracelet? And even if she was wearing one, would the term “hemophilia carrier” mean anything to first responders in the field or in the emergency room?
I’m still left wondering how to best advocate and treat my daughter with a diagnosed bleeding disorder. I didn’t know for the first twenty-eight years of my life that I was a carrier, let alone that I had mild hemophilia. Looking back, a lot of incidents in my childhood and young adulthood make a lot more sense now. Like all moms, I want a better life for my children. In some ways, Natalie is blessed to definitively know she is a carrier. But knowing that she is definitively a carrier is not enough.
Sonji lives with her husband, Nathan, and three children Nora (14), Thomas, (13), & Natalie (10), in Colorado.
*Note: “Infusing Love: A Mom’s View,” is a blog collection of personal opinions and a representation of individuals experiences. While extensive efforts are made to ensure accuracy of the content, the blog entries do not represent HFA or its Board of Directors. The blog is also not intended to be construed as medical advice or the official opinion/position of HFA, its staff, or its Board of Directors. Readers are strongly encouraged to discuss their own medical treatment with their healthcare providers.
Word From Washington