Knowledge = Power = Action – Experts by Experience
In 2001, at the age of three, my primary focus in life was watching Powerpuff Girls–and keeping my one-year old brother from drooling on my collection of stuffed animals. Not surprisingly, I didn’t notice when my dad started acting strange. Even my mom was unconcerned at first–his personality changes seemed trivial enough.
Usually an early riser, my dad began sleeping in. He stopped joking around as much, and would leave his desk cluttered with unopened mail and stacks of papers. My mom knew something was wrong when he told her he got lost driving to work, and that he couldn’t figure out how to tie his Oxfords.
The doctor referred him for diagnostic testing, and my parents received terrifying news with the results of the MRI. The white matter in my dad’s brain was deteriorating as the result of a rare, genetic disease–adrenoleukodystrophy (ALD)–and there was no cure. Our lives were forever changed.
Shortly after, my parents met with a neurologist and were dealt another devastating blow–due to the x-linked recessive inheritance pattern of ALD, I was a carrier of the disease and had a 50% chance of passing it on to my children in the future.
Over the next two years, my dad lost his ability to walk, talk, swallow, and understand the world around him. A smart, outgoing, fun-loving father became a man who was completely bedridden, fed through a tube–who no longer knew who I was. In December 2003, a few days before my fifth Christmas, my dad passed away.
What it meant to be a carrier
I can hardly believe that it’s been almost 16 years since then, and I’m set to graduate from college. While growing up, I learned about my carrier status of ALD in small doses, with my mom explaining and re-explaining it to me over the years, with increasing detail. After my 13th birthday, we met with one of my dad’s former neurologist and genetic counselor, who explained what it meant to be a carrier and discussed my options for having healthy children one day.
Around the same time, we learned that my carrier status could affect me in other ways–that I could also develop physical symptoms of the disease. We were previously told that female carriers of x-linked recessive diseases were completely asymptomatic, but several studies of ALD carriers had recently revealed that while the disease was only very rarely fatal in females, most carriers did eventually develop symptoms of the disease–difficulty walking and balancing, pain and numbness of the lower extremities, and bladder and bowel dysfunction.
Determined to dig deep and find my inner strength
Learning all this at a young age did not frighten me nor dampen my enthusiasm for the future. On the contrary, it made me determined to dig deep and find my inner strength–it empowered me to take action.
I became involved in advocating for women and girls who carry ALD and other x-linked diseases and began speaking at medical conferences all over the US and around the world. I repeatedly lobbied federal and state representatives to support legislation that would benefit carriers and others affected by rare disease. A few years ago, I founded a nonprofit organization, Remember The Girls, that works to improve the lives of carriers of x-linked recessive disorders.
I’m glad that my mom told me about my carrier status at a young age because it empowered me not only to educate myself but to advocate for fellow carriers who often feel isolated and overlooked by the medical profession.
Females are not "just" carriers
It is important for doctors to recognize that while traditionally regarded as “male-only” diseases, x-linked recessive disorders can and do affect females. Whether it’s ALD, Hemophilia, Duchenne Muscular Dystrophy, Kennedy’s Disease, Chronic Granulomatous Disease, or another disease with a similar pattern of inheritance, females are not “just” carriers. Time and again, these women experience dismissal of their physical complaints as being imaginary or related to another medical ailment because “carriers don’t get symptoms.” Such misinformation is disheartening, and x-linked women must be heard, and their symptoms taken seriously. Referral to specialists, genetic counselors and patient advocacy groups is often warranted, and it is critical that women be included in clinical trials.
As for me, I’m well aware of the symptoms I may develop and the challenges I will face as I grow older. But then again, I’m a firm believer that knowledge is power.
Experts by Experience is a collaboration between Inspire and Mayo Clinic Connect, online support communities for patients and caregivers. By sharing their stories, patients and caregivers awaken, inform, and strengthen the capacity to partner in their care. The stories also help clinicians and non-medical professionals in health care implement patient-informed practices in their interactions and communications, by uncovering opportunities for quality improvement. The series showcases the value of shared experiences and features contributors from around the globe.
About the Author: Taylor Kane is founder and president of the non-profit organization, Remember the Girls, an international support and advocacy group which unites, educates and empowers female carriers of rare genetic disorders--a group which is underrepresented and often overlooked by the medical profession. She recently published a memoir, "Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease" Taylor is a senior at The George Washington University, where she is pursuing a degree in Political Communication and a minor in Women’s Studies. Find her on Twitter at taylorkane23.