Growing Up as a Rare Disease Advocate

In 2001, when I was three years old, my dad was diagnosed with Adrenoleukodystrophy (ALD). ALD is a rare genetic neurological disorder with no effective treatment or cure. Over the next two years, my dad lost the ability to walk, talk, swallow, and understand what was going on around him. He passed away when I was five years old, just a few days before Christmas.

At the time, I did not understand that my dad was not coming back. As the years went by, I can recount numerous experiences which led to my eventual understanding that I would grow up and live the rest of my life without my dad by my side. I have a hazy memory from second grade, in which my class was making Father’s Day cards. I was the only one in the class without a father to make a card for. I remember crying while making a card for my grandpa.

I don’t have any memories of my dad before he was sick, so my knowledge of him comes mostly from stories and old home videos. My dad was an incredibly selfless man and dedicated his life to helping others, whether that was through practicing law or his many volunteer activities. After my dad received his diagnosis, he and my mom created a nonprofit organization called Run for ALD to raise awareness of ALD and money for research. Even though he knew a cure would come too late for him, he still dedicated the time he had left to try to help find a cure for others. In 2001 my family held the first Run 4 ALD, a 5k walk/run at a park in a neighboring town.

After my dad’s passing, my mom and family friends helped continue this annual event. In fourth grade, I wanted to help too. My school principal allowed me to visit every class in my elementary school and tell them about ALD and encourage them to attend our 5k fundraiser, which was being held at a local park. At my fourth grade graduation, I gave a speech about ALD and sang a song dedicated to my dad. I found that raising awareness of the disease that took my dad’s life helped me to cope with my loss.

At time passed, I became even more dedicated to raising awareness of ALD in my dad’s honor. Throughout middle school I participated in numerous activities such as volunteering at hospices, writing stories and articles about my family’s experience with ALD, and helping with fundraising for ALD research. I recall facing backlash for my activism, with some classmates and peers actually accusing me of using my dad’s death for attention. At the time, I was devastated. But I knew in my heart that this is what my dad would have wanted me to do, so, despite the bullying, I continued on with my advocacy efforts.

The only currently non-investigational treatment for boys affected by ALD is a stem cell transplant, which must be done early, preferably before symptoms develop. This is why it is incredibly important to screen newborn babies for ALD at birth. Therefore, when an effective newborn screening test was developed, I wrote to each and every one of my state legislators, telling them how I lost my dad to ALD, and asking them to introduce a bill to require that New Jersey screen all newborns for ALD. Shortly thereafter, the president of the New Jersey Senate replied and told me that he would personally introduce the bill! During my freshman year of high school, I testified before the New Jersey Senate and Assembly Health Committees in support of an ALD newborn screening bill, and it gained unanimous approval. A year later, I spoke with Governor Chris Christie at a town hall meeting about the bill and presented him with a compilation of materials I had gathered which supported the need for, and effectiveness, of the screening test. In 2013, the ALD newborn screening bill was signed into law!

You may have noticed that when speaking of ALD I only mention boys and men as being affected by the disease. The reason for this is that ALD is an x-linked recessive disorder, which means that men are affected by the disease, and females are considered to be carriers. When my dad was first diagnosed with ALD, the doctors told my mother that I was a carrier of the disease, which meant that any children I might have would have a 50% chance of inheriting the defective ALD gene. Other than that, they told my mom I did not have anything to worry about regarding symptoms.

Less than two decades later, it is now known that over 80% of ALD carriers do, in fact, experience mild to moderate symptoms of the disease during their lifetimes. Unfortunately, doctors often do not take carrier symptoms seriously because the term ‘carrier’ implies that one is asymptomatic, which we now know is not the fate for most ALD carriers. I later learned that ALD is not the only disease in which female “carriers” are more than “just carriers” — there are numerous other x-linked genetic disorders, including hemophilia, Alport syndrome, and Duchenne muscular dystrophy, where it is not widely known that female carriers may develop physical symptoms.

Astonished by this knowledge, in my senior year of high school I decided to create a nonprofit organization dedicated to raising awareness of and empowering carriers of x-linked genetic disorders. I am still working on developing and growing this organization, and have had multiple opportunities to speak about young adult and genetic carrier advocacy in the rare disease community over the past two years. I’m incredibly excited about what the future holds.

I truly believe that we are the sum of our experiences. Losing my dad, while incredibly tragic, has definitely helped sculpt me into the person I am today. I am quite worried about developing symptoms of ALD when I get older, but the fact that I am involved in the fight for a better future for carriers of x-linked genetic disorders helps to put me at ease and gives my life purpose.

Follow Taylor on Twitter/Instagram @taylorkane23. For more information about Remember the Girls, visit rememberthegirls.org.


Taylor Kane

Taylor Kane

I'm Taylor Kane. When I was three years old, my dad was diagnosed with Adrenoleukodstrophy (ALD), a rare x-linked genetic disorder. Over the next two years, my dad went into a completely vegetative state and lost the ability to walk, talk, swallow, and understand what was going on around him. He passed away when I was five. Now, I'm twenty years old and a carrier of ALD. At the time my dad was diagnosed, the doctors informed my mom that due to ALD's x-linked recessive inheritance pattern, I was a carrier of the disease. They said I had a 50% chance of passing the defective gene onto any children I might have, but that I did not have anything to worry about symptoms wise. Now, less than two decades later, it is known that 90% of ALD carriers develop mild to moderate symptoms of the disease. ALD is not the only disease where carriers often develop symptoms -- there are countless others, including Hemophilia, Duchenne Muscular Dystrophy, and Alport Syndrome. Unfortunately, we are still thought to be "just carriers." There are many studies conducted on the symptoms of carriers, which makes it difficult to know what exactly to look out for or how to prevent/treat these symptoms. Carriers also face difficult choices when it comes to reproduction, and alternative options are not always covered by insurance. Two years ago, I created a nonprofit organization called Remember the Girls to raise awareness of and advocate for carriers of x-linked genetic disorders. I believe it is vital for carriers to use their voices, and for the medical and rare disease communities to understand that we are not just carriers. For more information, visit rememberthegirls.org.

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