When I was three years old, my dad was diagnosed with a rare, X-linked disease called Adrenoleukodystrophy (ALD). At the same time, my family learned I was an obligate carrier of the disease due to the inheritance pattern of the disease. We were told that as a female carrier of an X-linked disease, I had a 50% chance of passing the disease down to my future children, but that I had nothing else to worry about. In the early 2000s it was believed that while males with ALD often develop disabling and life-threatening symptoms, females were asymptomatic.
By the time I was highschool, it became clear that many X-linked carriers did, in fact, develop physical symptoms of their disease, and that in certain cases, those symptoms were severe. With ALD, a few research studies had shown those symptoms included difficulty walking and balancing, spasms in the extremities, and bladder and bowel dysfunction.
Over the years, I attended ALD conferences and saw this with my own eyes. There were several ALD carriers in wheelchairs and others who walked with canes. These women’s symptoms were often attributed to injuries or degenerative conditions, however, and not to ALD. These women would often tell me that most of their doctors refused to even consider the fact that their symptoms were related to the X-linked disorder they carried.
Witnessing the silencing of carrier’s voices based on the assumption that X-linked females are “just carriers” mobilized me, at the age of nineteen, to create a nonprofit organization called Remember The Girls. Remember The Girls is dedicated to raising awareness of the issues faced by females with X-linked diseases, to advocate for greater access to reproductive options, genetic testing, clinical trials, and to offer communal support.
A few months after I founded Remember the Girls I created an online survey to gauge the needs of the X-linked carrier community in order to determine how best to direct the focus of organization. More than 430 carriers of more than fifteen different X-linked diseases completed the survey. After analyzing the results, the board of directors and I found them so compelling we decided the public should see them.
Thus, Remember the Girls commissioned the creation of an infographic to demonstrate the results of the survey, which is pictured above. The responses highlight the challenges faced by the X-linked carrier community. Most notably, the results indicate that 70% of female carriers felt that they definitely or probably have physical symptoms attributable to their disease. This data point alone suggests that females with X-linked diseases are clearly not “just” carriers.
Even more startling is the fact that a whopping 91% of carriers indicated that they believe that females who carry their X-linked disease do NOT have sufficient access to knowledgeable physicians and/or medical information concerning possible symptoms and/or risks associated with being a carrier. This information led Remember The Girls to take matters into our own hands by creating a Provider Network, consisting of highly recommended “carrier friendly” doctors and clinicians.
The survey results also show that 85% of carriers believe girls should be told of their carrier status before the age of 17, and out of those respondents, 40% feel that under age 13 is preferable While there clearly is no perfect time to tell a girl of her carrier status or potential carrier status, these results illustrate that many carriers believe it important to know at an early age based on their own personal experience.
Although it was disappointing to realize how many females with x-linked disorders felt that their needs were ignored by the medical community, the survey results also motivated me. Data allows for a tangible representation of the needs of a certain population, and with the support of this data, it can enable the carrier community to work toward eliminating the stigma surrounding X-linked females — most importantly, the notion that we are “just” carriers.
For more information on the survey, or if you would like to help Remember The Girls’ efforts, please email [email protected].
This piece is a guest post contributed by Taylor Kane, founder and CEO of Remember the Girls