My name is Taylor Kane. I’m a rare disease advocate, passionate feminist, and
lover of pizza with ranch dressing. When I was five years old my dad passed away from a
rare, deadly genetic disorder called Adrenoleukodystrophy, or ALD for short. ALD
primarily affects males and results in severe neurological impairment, ultimately resulting
in death unless diagnosed and treated before symptoms develop. ALD affects people
differently, but in my dad’s case, he lost his ability to talk, walk, swallow, and understand
what was going on around him. Some males with ALD also experience vision and hearing
ALD is an x-linked disorder which means it manifests on the x-chromosome. Since
males (XY) only have one X chromosome and women (XX) have two, my father
unavoidably passed the ALD gene to me, making me a carrier of the disease. ALD is
known to be a recessive disorder, which typically means that carriers are completely
asymptomatic. However, for ALD and a number of other x-linked, recessive, genetic
disorders, it has been determined that carriers often do develop symptoms of the disease,
ranging from mild to severe. In fact, with ALD, recent studies have shown that over 85%
of female carriers eventually develop symptoms, which can include difficulty walking,
bladder and bowel dysfunction, and even cognitive impairment. There has not been
sufficient medical research or attention with regard to the physical symptoms developed
by x-linked carriers or their treatment, and in many cases the symptoms women carriers
face are overlooked or misdiagnosed by the medical profession. Thus, many carriers
themselves have no idea their symptoms are related to the disease they carry.
As a passionate feminist, I am well aware of the fact that males have traditionally
come first when it comes to research and medical treatment. Our symptoms oftentimes get
brushed off as PMS or anxiety. To me, the most nerve wracking part about being an ALD
carrier is the fact that there are no known measures I can take to prevent these symptoms
or treat them if or when they arrive.
In addition to physical symptoms, female carriers have very little support with
regard to difficult decisions they must make concerning their reproductive options. All x-
linked recessive carriers have a 50% chance of passing the defective gene to their
children. Since ALD is such a horrific disease, If I decide to have children in the future,
the route I will take to ensure I have healthy children is in vitro fertilization (IVF) with
preimplantation genetic diagnosis (PGD). This would allow me to have children who are
completely free of the defective ALD gene. Unfortunately, many states do not require
insurance companies to financially cover this procedure, and as it is extremely expensive,
many women carriers are simply unable to afford it and are left with a very difficult
decision: whether to risk having a child with a severe genetic disease or to give up their
dream of having biological children.
Being a carrier of an x-linked disease can be incredibly isolating. However, I have
been fortunate to have met and formed relationships with so many brave carriers of ALD
and other x-linked disorders, and that has made me feel much less alone in this journey. It
has also spurred me to take action. Last year, I created a 501(c)3 nonprofit organization
called Remember the Girls, to raise awareness of the issues we as carriers, face. I hope to
continue to build Remember the Girls, and create an coalition which unites female carriers
of x-linked genetic disorders and raises awareness of their unique and pressing issues. As
carriers, we deserve to be seen, we deserve gender-specific research, and we deserve to be
able to afford to have children without the fear of passing our disease on to them.
Although I am unsure of what else the future holds for me, one thing I know for
sure is that I will spend the rest of my life advocating for carriers, rare disease patients,
and their families.
For more information, go to rememberthegirls.org, request to join our closed
Facebook group and/or follow me on Twitter & Instagram @taylorkane23.
Taylor Kane is an undergraduate student at The George Washington University majoring
in political communication and minoring in women’s, gender, and sexuality studies.
Taylor has been an ALD advocate for as long as she can remember, and is excited to be
working with and fighting alongside carriers of ALD and other x-linked disorders. Her
Twitter & Instagram handle is @taylorkane23.