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6 'Universal' Experiences Parents of Rare Zebras Go Through

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The last day in February is the catch-all awareness day for over 7,000 diseases that most don’t know exist. Some of them have such small communities that awareness months or days do not yet exist for each of them. Rare Disease Day is unique, since there is no distinct theme that holds these conditions together other than the fact that they’re rare. But it’s important we band together.

Obviously, since “rare disease” is such a mixed bag of conditions ranging from genetic abnormalities, to rare cancers, to communicable illnesses, it is tough to describe what parents of children with these diagnoses go through specifically. However, I think there are a handful of loosely defined universal experiences we understand all too well.

1. The doctors’ lack of knowledge is frustrating.

For broken arms, strep throat, and a myriad of common childhood ailments, the doctor you visit to care for your child has all the answers you need and complete confidence in handling these issues. It is easy to trust the doctor knows what he is doing. When you have a child with a rare disease, even your specialist doctor will exhibit less confidence. Instead you may hear, as we did at our child’s diagnosis appointment, “Well, it’s not like this is something I see every day!” They may also give you multiple treatment or testing options without giving clear guidance on which is actually the best choice for your child, because apparently, they do not know. When you return to your primary care physician, they will have no idea such a diagnosis existed.

2. Experts are few and far between.

In our case, the two neurologists who specialize in my daughter’s general diagnosis, rare genetic neuronal migration disorders, are halfway across the country from us in either direction. Thankfully, technology is making it so she can participate in a genetic research study long distance. Still, finding that opportunity was like finding a needle in a haystack. Many families and patients are forced to travel these long distances to find the care they need and often require long-term stays far away from their normal day-to-day life, their spouse, and/or their other children.

3. Even the Internet (which you thought knew everything) yields disappointing results in the quest for knowledge.

During our two-month wait for our daughter’s diagnosis, I Googled her symptoms and read dozens of articles about different types of seizures. Nothing fit. I never once ran across the mention of the diagnosis we ultimately received. When I Googled her condition’s specific type, “subcortical band heterotopia (SBH),” there were over 21,000 results. That may seem like a lot until compared with more common things like Down’s syndrome, type 1 diabetes, and autism which produce 16 million, 393 million, and 177 million results, respectively. No sites are dedicated solely to this individual rare disease. Instead, you find it described at and briefly mentioned on a couple epilepsy sites. All you will find is a brief description of what it is and many stiff, scholarly articles with medical jargon.

4. Finding people who can relate is a challenge.

Most of us seek out other parents with kids of similar ages to hang out with as our kids are growing up. It is nice to be in the throes of the same issues as someone else. When you have a part of your life that is so different from everyone else’s, it is nice to find “your people” who can identify with that part of you too. Enter Facebook groups. There are Facebook support groups for everything. Sometimes the small number of members and lack of active members in a group makes it hard to find support. SBH has just one group on Facebook with just 260 members worldwide, including parents of infants and those living with it in their adulthood. However, it takes thousands of members in a group to consistently have a few people see and comment on any particular post. For more common diseases, there are dozens of groups with tens of thousands of people in them. For some, there is a group confined to one metropolitan area larger than the worldwide group of which I am a member.

5. You want people in your life to know and understand what you are going through but…

Going on with regular life like nothing is different after the weight of something like rare disease is suddenly “dropped” on you feels strange — but bringing up what is going on with every person you have a conversation with is definitely more uncomfortable. Talking to a person as if nothing is going on, when you are aware they know something is going on, is strange. Talking to a person as if they know what is happening because you assume they have heard from someone else gets awkward. They don’t know if they are supposed to know, and you’re not sure if they really do know. It’s all incredibly uncomfortable. In my mind, none of this would be such a problem if not for the next part.

6. You grow weary of the long explanations.

The list of over 7,000 rare diseases contains many words you won’t know how to say and syndromes most have not heard of. You can’t just toss out the phrase “subcortical band heterotopia” in passing small talk. Even the layman’s term, “double cortex syndrome” is going to garner some questions.

I spend a significant amount of time trying to come up with a succinct explanation that people will somewhat understand. At different times, I have gone with saying she has “a rare genetic brain malformation,” or just “a brain malformation,” or “developmental delays.” At the other end, I’ve even toyed with, “She has double cortex syndrome. Just Google it.”

Because of this, all the tiresome explanations, parents of rare kids are kind of stuck with either saying nothing, saying something people aren’t going to understand, or launching into a lengthy description of the diagnosis which often leads to a list of emotionally triggering questions. Sometimes too many of those close together can get very draining, and even depressing.

If you’re a parent to a rare zebra, I hope you have found or will find ways to cope with each of these experiences. Remember that you’re not alone in your quest to find knowledgeable doctors or a community that’s supportive. So please, continue to have hope.

Originally published: February 20, 2019
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