In honor of Rare Disease Day 2018, I’m sharing with you my experience so far in raising a child with a rare diagnosis. So rare, in fact, he shares the diagnosis with approximately 50 other people worldwide. This is partly because the kind of genetic testing that can be done today is more advanced than ever, and can find the underlying causes of multiple chronic health issues, and partly because it is, in fact, a rare disease. For us, this means many things physically, and emotionally. It requires patience, the ability to acquire and hold on to new knowledge, the openness to learn how to care for your child in a way that does not come naturally, and making peace with unknowns. Let’s dive in.
On a physical note, my son will be chronically ill, meaning he will struggle with his health conditions forever. He doesn’t look sick — which confuses a lot of people, but you must remember that chronic illness comes in all shapes and sizes, including pint sized, happy toddlers with curly hair and rosy cheeks. Brain abnormalities, kidney disease, heart disease, difficulty gaining weight, developmental delays, cognitive delays - he’s got something going on from head to toe. Somehow, he only needs to be on two daily medications. He’s thriving in his own way, but his life has and will continue to include lots of doctor appointments, surgeries, procedures, therapies, and medical equipment. As intimidating as it all may sound, it hasn’t diminished our quality of life one bit. Yes, every day presents its own challenges, and there are really hard days where you feel ill equipped to raise a child with such a complex medical history, but we are still a happy family. We just try to hang in there and take it one day at a time.
Patience. Oh, the amount of patience one must have to survive this. There’s the patience you’ve got to muster up for the countless amount of paperwork, meetings, bills, insurance issues, scheduling, and just plain waiting. Waiting in the waiting rooms, waiting for medical supplies to come in, waiting to see a specialist. The patience you must have with family when you try to explain everything that’s going on and they look at you like you’ve lost it. When you try to get them to incorporate what you’re learning in therapy but it’s so involved and layered with information you feel like it will take a lifetime to teach what you’ve had to learn in the past year and a half. The patience it takes to politely listen to unsolicited advice that just won’t work for your child because of the complexities of his chronic illness. The patience it takes to have to call medical professionals every time you have a question about your kid. I’ve always thought I had a capacity for patience, but goodness gracious, does this test me.
The ability to acquire and hold on to new knowledge. The information coming my way is never ending, and it only accumulates as my son gets older. If I got credit for all of the information I’ve had to learn in these past two years, I’d have another degree. Imagine your brain as a new mother, in all its full and foggy glory — and add a dollop of medical vocabulary, a pinch of therapy practices, and a heaping handful of nursing. Recipe. For. Disaster. Well, at first, that’s what you feel like — a disaster, but again, taking one day at a time, and reading and researching as much as you can will help it all come together.
Then there’s the openness you must have to care for your child in ways that do not come naturally — the space you need to give to let him figure things out organically, as jumping in too soon rids him the opportunity to learn. Learning how to hold him, move him, feed him, and communicate with him in the ways in which his brain and body can respond. The patience and acceptance of the “quiet time” where nothing seems to be happening as you say “push the button” or “clap your hands”, but the wheels are turning, and you can see it, and so you must wait. And it may take 10 whole minutes, but he will push the button, and he will clap his hands. And in turn, there is the openness you must have for the rest of the world to learn about your child and accept him just the way he is, and to hopefully have the patience with him that you have learned to cultivate.
Finally, making peace with the unknowns - the infinite amount of unknowns. Will he tolerate this new formula? This new texture? Will he be ok in school? Will he ever speak? Will he ever crawl? Will he ever walk? Will he ever be independent? Will he survive the next surgery? Will he survive the next cold and flu season? Will I outlive my child? Will he be happy? Would having another kid ruin his quality of life? What if something happens to me? The list goes on and on, and takes many dark and twisty turns. It’s hard to talk to people about it, because it tends to make others uncomfortable. But these are my realities, and the realities of many other families like mine. It’s uncomfortable, but necessary to process these feelings and concerns.
If you find yourself on the other end of a conversation with the concerns that I’ve just presented, don’t feel the need to jump in and say, “that won’t happen”, or “don’t say that”. It results in only making you feel better, and you’ve missed an opportunity to truly comfort a friend or loved one. There really isn’t a need to respond with the “right thing to say” at all. Just a hug, smile, or a simple, “I’m always here for you” will do. We can’t always relate to what others are experiencing, but we can acknowledge what they are going through and support them through it, which brings me to my next point.
February 28th is Rare Disease Day. In order to spread awareness, and show your support for families like mine, I’m asking for your help. Global Genes is a non-profit organization which advocates and fundraises for those with Rare Diseases, their symbol is a denim jean ribbon. To participate in Rare Disease Day, on February 28th:
- Snap a Selfie wearing your favorite denim, and share a statement on how you “Care About Rare”
- Use the hashtags: #parentsconnect, #rarediseaseday2018 and #GlobalGenes
- Tag @nicklaus4kids and @itsnottoocomplicated in your photo so we can see and share it!
- Tell your friends and family to do the same.
Thank you for taking the time to read about my experience in caring for rare. There are so many children, teens, and adults experiencing what my son goes through, living a life full of unknowns — and most of the time more happily and gracefully than any of us do. Thank you for helping me spread awareness, advocate, and show unconditional love for our Rare loved ones.