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Health Conditions and Other Mysteries

So yesterday was Rare Disease Day, and I tried to find time to say a few things about it, but life got in the way. Thus, here's today's attempt at it.

As background, my brother, until he passed away a few years ago, had cerebral palsy. While it's not quite a rare disease, it was one that kept my childhood from being normal in any way. We all loved him, but mine was a life of wheelchairs and vans with lifts installed and ramps into the front door of the house and, for a few of his early years, trips to Philadelphia every year to be seen by an institute that would teach us how to care for, and give therapies for, him as he grew.

My son has a rare disease, or condition, or whatever you care to call it. It's so rare, the doctors can't figure out what it is, despite over a year of testing and a trip to Johns Hopkins in Baltimore to meet with a top-of-the-line specialist. Local doctors suggest we should go see him about once a year.

Not only that, but the Baltimore doctor suggested that it may be a family condition from my father. That is, my dad and brother probably had it but didn't know it. I may have it, as well as my sister and her kids, and my kids. Xander obviously has it, Zoey might at least carry the gene. We don't know. Once we have a diagnosis, we can look into testing everyone, I guess. Meanwhile, there are medical tests I should have done to make sure there's nothing wrong with me, but there's some question as to insurance paying for it and some waiting for the deductible to be met. Life...

All of that said, I am writing about Xander in particular and how he impacts us. I'll try to remember all the different parts of what I want to say.

Xander has ligament laxity and arterial tortuosity. Those aren't diagnoses; they're symptoms. The first is an extreme flexibility of his joints, including his ankles and knees, making it hard for him to walk. In the second, his arteries are not straight, leading to him being prone to aneurysms at some point in his life. With an aneurysm in the right place, he could die in minutes, and the right places are possible, according to the tests done. Doctors watch this pretty closely.

Speaking of doctors, there's a lot of them. We're tapering off with some of them, but besides his pediatrician, he sees or has seen regularly cardio, ortho, GI, developmental, genetics, neuro, urology...I'm forgetting some. We've done speech, physical, and occupational therapies weekly for a couple of years now. Until he started school this year, his therapies were special trips, three a week, to the local children's hospital. Now he gets them done while he's at day care, which simplifies our lives a bit. But we still have a lot of doctor visits across time and a number of tests that happen every few months.

Until school, he had lots of home visits from different programs, none of which could do that much. They got us in touch with a few resources, brought a few therapists that Xander mostly ignored, and claimed their success for the day before they left. They tried. We had to be home for their visits.

My three-year-old son is only starting to walk. He's had braces on his ankles for a while now, but the therapies are paying off in this regard. His overall development seems to be that of a two-year-old, last I heard. Words are slowly appearing for him, though he's been babbling for a long time.

I take my daughter to the doctor for whatever her problem, and the doctor often starts by asking multiple questions about my son. Her life is, like mine was, in the shadow of her brother's needs. We give her extra attention to let her know that she's special, too, and she really is.

Life doesn't stop when you have a special needs child. You still have to go to work. You still have to clean the house and cook and do all the things that people do to live their lives. The difference is that you have some extra work to do. I have a 35-pound boy that often needs to be carried, and while my back doesn't hurt, my knees do. I have a lot of worry as to his future, much more than a parent of a typical child would have, especially without a diagnosis. Everything is a waiting game. Health, talking, independent walking on a regular basis (until recently, walking at all). Waiting, I am certain, will wear you down eventually.

He's tough. My god, he's tough. He's been through so much, health-wise, that he doesn't cry when he's in pain most of the time. He cries when he's angry or sad, perhaps, but pain is just something he's used to. So you have to figure out if he does hurt.

You start to notice that people don't see your child, most of the time, as disabled in any way. Generally, that's what you want. But when you try to take your child somewhere crowded, nobody will give your child the space needed to function. Hell, if he's in a stroller and traveling against the flow (thank you, Baltimore aquarium), they'll be a wall of rude. Did he see the fish then? No. Neither did whichever one of us was pushing the stroller, for the most part. That's okay, we have a local aquarium and slow days to visit.

In comparison, with my brother, there was always the stares. Those were painful on a different level, and you tried to learn eventually to tune them out, for your own sanity.

And who do you talk to about your child? To whom can you share your worries without wearing them out with your depressing negativity? So you gloss it over, give basic details to most people, and keep it to yourself. This is the hardest part, honestly. There's a serious sense of isolation, of feeling that nobody understands what you're going through and nobody knows what to say. Of people pitying you, feeling sorry for you. And you watch that angel of a boy with that devil of a smile, and you hope for the best. But you don't know.


Mar. 1st, 2013 05:27 pm (UTC)
Thank you for writing this essay.That must be terrifying and isolating.Do you know of parent support groups with kids who also have rare or mystery illnesses? The only answer I have is to keep blogging and writing, when you have the energy.Just to get some of it out.