I get that everyone's lives are uncertain. You just never know if today, or tomorrow, or 90 years from now will be all the life you get. With a diagnosis like Charlotte's there is a lot more certainty that her life will be short, and she will have far fewer abilities and opportunities than her peers. A typical person is advised to live life to the fullest because who knows when life will be taken away. But what do you do when you know? What do you do when you know better than most people when? And you know better than most people how?
This information has, of course, changed our lives. We didn't know anything was wrong. This was a huge surprise. Most parents of children with MD have suspicions that something is wrong. Many children with MD are late walkers, if they learn to walk at all. Charlotte wasn't. Many children with MD are cognitively delayed. Charlotte isn't. Most people are searching for something to explain why their child isn't meeting milestones. We wanted to know why her stomach hurt, immediately, and all of a sudden, and so severely she was shrieking in pain. This didn't, and still doesn't make any sense.We have had to think about her future in ways we didn't plan. Sure, this is something all parents do. They make adjustments; our kids are never exactly who we expect them to be (probably to spite us). This was different. This felt like her whole future, any future, was off limits. Will she ever reach adulthood? Will she be able to go to college? Follow her dreams? Or will her dreams need to be re-evaluated to reflect how little she will be able to do on her own.
Because right now, she is "big". She fills a room. She does for herself. She accomplishes. She is normal. She can do normal things. Until she can't. And then her life will be more "can't" than "can", and loss than gain. And our perspective will have to shift from "can't" to "can still do some things". And I hate that. I hate that to survive this, I will have to celebrate things we haven't lost yet.
So, yesterday. I signed her up for ballet. She is just barely old enough, and I am biting at the bit to get her enrolled because I want her to have as many days of "can" that she can. I want her to experience normal just a little bit. However, I know that soon, too soon, it's going to go away. We aren't living in the moment, trying to pack as much life into each day as we can. We are trying to pack a whole life into a few years, because we don't have uncertainty, we have knowledge.
They say "it's better to have loved and lost, than to never have loved at all". I hope she sees it that way too. I hope that she's happy she got to dance, and knows that I was trying to give her something before she couldn't have it anymore. But I don't know. Is it cruel to dangle normalcy in front of her? To give her something that I know she can't keep?
I don't know. But I guess we have to try. I guess we have to believe that losing something is better than never having it. And that she's so excited about it right now that she refuses to take off those adorable little slippers. I wonder if it's irresponsible to do it. Especially since we know it won't last forever.
Friends and Easter Eggs
A day, last week, had an Easter Egg. A totally unexpected, delightful, inexplicable, and joyful object showed up in my office mailbox. Lately, my routine has been mundane, and designed around committing myself to the least amount of anything possible. The result of this was that I had done a pretty effective job of forgetting everybody with whom I don't share a space. I had been forgetting my friends. My friends, on the other hand, have been doing a very good job of not forgetting me. I'm glad to have my friends. I'm thankful that they are willing to reach out even when I am silent. All of this may be very isolating, but I am glad to be reminded that no matter how different our lives are, my friends don't think isolation should be defeating.
One friend thought that this sweet set of pens were "me". She decided to get them, and wrap them in the most adorable bunny paper. She dropped them off in my office mailbox so that I could privately smile and take whatever time I needed to remember her again.
My Pedicure Looks Like My Toddler Did It
Spoiler alert, she did.
Toddlers and independence are like alkali metals and water, fairly explosive with varying degrees of intensity and destruction. There really isn't a lot they can do for themselves and it can be hard to distinguish what they are able to do from what they want to do. There are also countless contributing factors to a toddler's demeanor; sleep, hunger, annoyed by fuzz, are only a small sample of reasons why a toddler may think they can or can't do something themselves.
Charlotte, for example, thinks that the worst thing in the world is that she can't cut potatoes with her wooden play knife. It drives her up a wall. But she so desperately wants to help cut potatoes and does not understand that it would be irresponsible for me to hand her a kitchen knife. We've even gone as far as trying hand over hand with her, so that she can cut the potatoes, and I can avoid an ER visit. This, however, does not fly with her. She must do it all by herself. Well, kid, no.
Sometimes, though, the opposite is true. Somehow, the box of Lego is always heavier (too heavy to lift!) when you have to put it away, than it is when you insist on dumping it out.
The knife example is paradigmatic of many activities we do in a day. Like driving. Or mowing the lawn. Or sitting alone in the car; the concept of "mommy would go to jail" just doesn't seem to persuade her.
I want her to be as independent as possible. I want her to feel like she has as much independence as possible. It's an essential struggle of parenting; I don't feel alone in those desires. I often wonder how much she concedes in a day because of how much I am acknowledging her limitations.
So, when I sit down to paint my toes and she wants to paint them for me? Go for it, kid, try not to get any on the carpet. Or the cat. Common ground is hard to find with a toddler. When I find something that she can, and wants, to do with enthusiasm, which also doesn't involve the probability of an injury, I say "milk it". Plus, she's actually does a pretty good job.
A Holiday for Everything
It's Rare Disease Day. I know it isn't a "real" holiday, but acknowledgement for people that have, know, and love people with uncommon conditions is alright with me. Rare, in this case, means diseases with an incidence rare of fewer than 200,000 cases. We don't actually know how many people have LGMD2C. Our best guess is that there are a couple hundred.
It's pretty rare. And uncommon things lead to understandable confusion. Most people think that because she can walk now, that she is different than other people with the disease. Or that they know someone with Limb Girdle, and they are still walking at 30, so maybe she will too. While these reassurances are obviously well intended, I struggle to articulate why we have to acknowledge the possibility, the certainty, even, that the doctors are right.
Awareness is powerful, here, because awareness would help people understand that those who typically know the most about the rare diseases they, or their children, have are the people that have them. One of the first things her specialist told us when we met him for the first time was "you will, very soon, know more about all this than almost anyone else."
With a disease as rare as Charlotte's, there is only what they have observed from the very small sample of previous patients. LGMD2C is part of a class of Limb Girdles called the Sarcoglycanopathies. There are three other types in this class of LGMD, all with similar severity and incidence rate. Just 20 years ago, doctors weren't even sure WHAT was missing in these kids to cause their disease progression; the disease was called SCARMD (Severe Childhood Autosomal Recessive Muscular Dystrophy). Now, at least they know what piece is missing.
It is true that doctors don't know everything, but we are working with the absolute best information that exists. It is true, even, that medicine will come a long way in a short time, and that is our hope. If you feel super inclined to help speed that process along, *wink, wink* you can donate to the Kurt and Peter Foundation, they really are the best hope of a cure in Charlotte's lifetime.
All diseases are hard. Rare diseases are hard and are also incredibly isolating, especially when they are terminal. Very few people know anything about them, much less about the limitations of science and medicine concerning them. No one copes well with hearing that something is horribly wrong with their loved one, let alone that there is so little that there can be done to help. No one knows what to say. What can you say? It's a good question, I don't know either. Most days, I am as lost for words as everyone else.
Spontaneity and a Cat Named Nimbus
This cat. Do you ever feel like a series of events just led you to something that you needed so badly? We did not think we needed this cat. At the time, we had two kids, a geriatric border collie, and another cat that is so scared of her own shadow that we rarely see her.
A coworker sent around an email about foster kittens someone had found in the woods in Tennessee. We did not need a kitten. But this cat. The pull was strong. I don't know how I managed to convince my husband, but I did.
So, we got this cat. This teeny, tiny, five week old critter. This size-of-a-beanie-baby cat.
We named her Nimbus. I didn't realize how much our family needed her until I watched her bond with every one of us, though, especially Charlotte. They're like siblings. Nimbus nips and Charlotte doesn't like to share her toys. At the end of the day, however, Nimbus is a bath time companion and Charlotte is the perfect size for a snuggle. It's hard to find one without the other. Where Charlotte goes, nimbus goes also. Their bond reminds me of the oft envied pair of my childhood, Calvin and Hobbes. They seem to have a secret world, which only they are inhabitants.
Only eight days after we brought Nimbus home, we learned that something was wrong with Charlotte. Nimbus came to us at exactly the right time; she has been an infinite source of laughter and comfort to us.