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What Being Rare Means to Us

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Being rare means many things. Often, you don’t start out rare. You are tossed in the bucket with everyone who experiences your symptom. I recently read a quote from a friend that I had to stop and reflect on. It has popped into my head repeatedly since that day.

“If you hear hoofbeats, assume horses, not zebras.” 

Doctors and health professionals seem to be taught to think this way in diagnosing and treating illness. And why wouldn’t they be? But sometimes, it is a zebra.  

My son, Jacob, is rare. In the beginning, seizures were our battle. They began when he was born and have continued to this day. At first, his neurologist believed we would resolve and control these seizures and life would go on. Then it became apparent the seizures weren’t backing down. This led to the first round of genetic testing. Negative result. 

He suffered from infantile spasms at one point. They’re a harsh, awful and stubborn cluster of seizures that usually present around age 1. This gave us a clue — a hint of a bigger picture. Infantile spasms are also rare, and only a unique subgroup experience them. Rare means lack of answers, and when the answers start to show their faces, they often are so specific, you still can’t relate to anyone, so it means feeling alone.

I’m thankful that many of Jacob’s doctors listen and are open to suggestions and new ideas. A special needs mom with the internet at her fingertips does better research than the FBI. If I find something concrete that I truly believe could help, I share it. But I didn’t always do that. I had to build up confidence and realize that if Jacob is as rare as he seems to be, my husband, Kirk, and I are part of a handful of experts on his specific disease just because we’re his parents.  

Being rare means that people will learn from you. It’s not all bad. Yes, being rare is difficult, but it presents us with an opportunity to educate our peers, especially when we see another family swirling around in the pool of some seizure disorder or a developmental delay, and we can reach in and help them find answers because of the path we took to get here.

It also means, sometimes, doctors don’t want to take responsibility for you. They become intimidated by how complex our world is and run screaming. Here’s an example: Jacob had a seizure and vomited after. This happened three times. I called the neurologist who said, “Sorry, that seems like a problem his gastroenterologist should deal with.” Then I called the GI doctor who said, “Oh, Mrs. Olavson, that seems like something the neurologist should deal with.” I called the neurologist again who said, “Well, what do you think we should do?” Me? I’m not a doctor! I’m just the resident “Jacob” expert.  

Then one day you get an answer. One little letter, on one little gene. An “A” that was supposed to be a “G”. That’s it. Because of the path genetic testing is on, people will no longer wait like we did. I spent five years worrying he had a birth injury or I caused it by taking an antidepressant while pregnant. Now, I know it’s something so small, by comparison, it’s more catastrophic to my son’s body than a nuclear bomb is to the earth. 

We recently received news that my husband also has the same mutation. My boys are part of .007 percent of the population. I believe that number will grow. We also learned that this gene mutation is always destructive. But that’s another thing I believe will change with time. Genetics in general are still in their infancy. For now, this means searching for whatever else ails Jacob because there must be something more. Kirk doesn’t have seizures, but he has a family history that lines up with this gene and its typical presentation.

Being rare means sometimes the answer doesn’t mean much. It means I have found five other children with the same gene as a cause for their epilepsy and other battles. Just five, hopefully many more will come. It means there isn’t a foundation we can turn to for answers, resources or education. It means we know more about this than almost anyone. CACNA1A. It was first recognized as an epilepsy-causing gene in 2015. We happened to catch it on Jacob’s third genetic epilepsy panel. Next is whole exome sequencing.

While rare disease often means a lot of hurdles and many difficult days, it also means we are given a voice. Being the mother to this little warrior and his sister has given me more self-confidence than anything else in my life ever has. I had to stand up and fight for him, which showed me it’s OK to stand up and fight for me, too.

When no treatments worked for his seizures, we found new ones. When I saw things I would like to see changed at our hospital, I joined the family advisory council. And there’s no current resources for our genetic mutation? Maybe I will just have to create them. 

I will tell you one thing I know. If you’re open to it, rare disease will lead the most amazing and wonderful people into your life. It’s a tribe of friends, fellow moms, therapists, teachers, nurses and doctors. And they genuinely care about Jacob and our family. 

Rare disease doesn’t have to be a tragedy. Yes, it’s a very, very stressful life, but I would never change it. Jacob has brought many more blessings than burdens, more joy than sadness. He has taught us many lessons. He has made us more kind.  

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Originally published: January 15, 2017
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