The Loneliness of Rare Disease

The battle is long, and it is isolating. The grief is all-consuming. The challenge, impossible.

We feel alone. Utterly, impossibly alone. We’re lost, in a desert, wandering around, with no one else in sight. A desperate situation, and no clear path to travel to seek the light. A child we love, more than anything in the world, that we must save. A walk toward liberation and healing that feels impossible and laden with hurdles and landmines, unimaginable to most. Unimaginable to us.

Two in a million - those were the chances of Riaan getting this disease - and he did. Two in a million. A two in a million fatal diagnosis automatically propels your little nuclear family into an island of your own, separated from the rest of humanity. Then you learn there are many other little islands nearby, of other rare disease sufferers and the parents or caretakers that love them, but overall - in the context of humanity and our planet - you’re alone. The journey is yours and yours alone.

I understand that for many people talking to parents of children with the same rare disease as their children brings them comfort and aid. It makes sense why. It hasn’t really done that for me. I think it’s because I don’t want to know too much although there is no greater source of information than families facing similar experiences. But I don’t need to know the future in that way, I don’t need to make comparisons in my head to our situation. I sense how understandably jaded some of these parents are, many in the battle long before us, how tired. This scares me. Will it be us one day?

What does bring me comfort is talking to parents of children with different rare diseases because then we’re all on this same overall boat, and not stuck in the nitty gritty details of symptoms and prognosis. We maintain a level of privacy and aloofness. What really, really brings me comfort is talking to parents of children with different rare diseases who are also actively trying to find a cure. I feed off of that kind of energy, and it renews our own fight and commitment to stay on the challenging and costly path of finding treatment, a needle in a haystack, a miracle in the wind. And what really gives us hope in a sea of despair is talking to researchers and scientists, and actively trying to find solutions to end this unbearable nightmare. To do something. To finally change the story.

We are also uplifted by the power and love of our sangat (community) and the kindness of strangers, more online these days than “in real life” due to COVID and the ease of communicating and story-sharing over social media.

But make no mistake, this is an excruciatingly lonely and isolating experience. Most people, including our extended families and personal networks, will never fully understand, and why would they? There’s a reason it’s called rare, and in our case, ultra-rare disease.

The human body is made to function and adapt. You can keep going, on most days, if you’re distracted and busy enough, if you just immense yourself in the hunt for a cure, and in spending time with your beautiful child, and trying to keep him as happy and healthy as possible. The moments you can’t - for me - when absolute function seems impossible is when I’m alone. This has been a dramatic change from before the diagnosis. I used to love being alone, I would travel alone, I would hike alone, I would eat at fancy restaurants alone, I would go on long walks, to movies, I drove around for hours alone, I lived to be alone. I loved it so much. Now, even a few minutes alone, a drive to the grocery store, and the full wave of pain smacks me in the face and I buckle under the heaviness, melting into a puddle of earth-drenching tears and grief. Sitting in the grocery store parking lot, staring at other shoppers, through eyes full of heavy tears. Sobbing and sobbing.

How can we save him? Can we save him? What will he go through? Will he be ok most days? Will he suffer? What will he know of the world around him? How will this story end? Why would we succeed if so many others before us have failed? What can be different about this time? Or is this disease, the universe, too mighty of an adversary? Why did this have to happen to my Riaan, to my baby? Why is the universe so cruel? What was the point of everything I’ve done up until this point? How the hell are we supposed to survive this experience? Will we?

Once the mood wears off, and I come home, and I see Riaan’s big smile that consumes his entire adorable face, and those beautiful eyelashes, and the love with which he looks at me, there’s no choice really.

We’ll fight with everything we have. We love you, Riaan. Mommy and Daddy love you.