Two of my children live with a rare, complex genetic disorder that affects almost every system in their bodies, called Bardet-Biedl Syndrome. They're actually doing pretty well most of the time. They don't endure frequent hospitalizations and haven't had a ton of surgeries or procedures, at least compared to other chronically ill kids that I know. What we have the most of are frequent check-ups with multiple specialists, frequent blood work, frequent therapies, frequent questions, and frequent worries.
Sometimes, when people ask how the girls are doing, I find myself saying, "They're actually quite stable right now. Thanks for asking." Because even though they live daily with chronic kidney disease, liver disease, retinal disease, neurological disorders, endocrine disorders, autism, and developmental delays, at least we aren't experiencing an emergency right now.
Sometimes people have trouble understanding why living with this disorder is so exhausting when the girls seem to be doing relatively well. Perhaps I can illustrate with the last few weeks.
One morning Emma suddenly has cold purple hands. I first assume she's cold and force her to put two sweaters on, then I worry that she might be seriously cold and take her temperature. The thermometer beeps at 95.3 F. I put her on the couch under a pile of blankets and debate whether to call her pediatrician. I don't want to overreact. Maybe she's just cold. Am I overreacting? I decide to call. The pediatrician says to get to the ER ASAP in case Emma has a blood infection or is in shock. I argue with the pediatrician that maybe that would be overreacting. Pediatrician will have none of that. To the ER we go.
Now I'm scared, so Emma gets a coat and a hat and the heat cranked up all the way in the van. When we arrive at the ER her temp is 98.6 and she's pink as a posie. I feel silly. The ER doctor takes me seriously, thank heavens, and runs every test I could have asked for. Everything looks fine, and home we go. I'm pretty sure I overreacted.
For the next few days I tell Emma to wear a sweater and socks, just in case. I call Emma's endocrinologist the next day to ask if she might have a hypothalamus or thyroid issue, just in case, but I have to wait three days for that doctor's nurse to call me back. Then I notice Emma isn't drinking like she normally does. The juice I poured her that morning is still sitting in her cup at dinner time. She tells me she wasn't thirsty and didn't drink anything all day. All day? This is out of character for her, and unhealthy. She also still has purple hands most of the time, and sometimes has a low core body temp. I don't want to overreact, but I decide to spend four days and a night on Wikipedia, PubMed, and random other more-or-less trustworthy sights learning about posterior hypothalamic cysts and other unusual things that could produce episodes of hypothermia with decreased thirst.
After a week of trying not to overreact, I decide to call Emma's endocrinologist again, just in case it's time for another brain MRI for Emma. Just in case she has a posterior hypothalamic cyst, you know. The endocrinologist tells me she doesn't think that's warranted, but calls back two days later just to check on Emma. Just in case.
I continue to stare at Emma's mottled purplish hands over the next week. They turn white when I press on them. It doesn't look right. I can't figure out what to Google for this. They key words I try don't get me anywhere. Emma has a rough week of braille lessons. She's flopped over, leaning her elbows on the table like it's too much effort to do anything right now. She has an uncharacteristic bad attitude about braille this week. She rolls her eyes a lot and acts like she just wants me to leave her alone. I can't put my finger on it. Something is off.
One night the white splotches on Emma's hands are so pronounced when I touch them that I take a video of it. I decide to post it on Facebook and ask my friends' advice. They advise me it could possibly be a cardiac issue. I e-mail it to Emma's nephrologist (kidney doctor) because I like this doctor, and because she always responds to my e-mails. I wonder if she will have any ideas. I don't get a response that night, and I sleep restlessly. As I sleep I'm going over and over Emma's recent breathing problems: the episode in October where she was suddenly so short of breath and her oxygen so low that she vomited right when we entered the ER and she was hospitalized overnight for low oxygen levels. They had called it an asthma flair even though Emma hadn't had any asthma symptoms at all for over three years before that. It took her a few weeks to recover from that, and ever after that Emma has had trouble with breathlessness while exercising. The albuterol nebulizers don't seem to help. Emma had become worried about it. "Mom, did you remember to pack my nebulizer?" she had asked when we pulled out of the driveway for a weekend trip. I toss and turn and wonder if Emma has exercise induced asthma, or if she has a heart problem.
The next morning I decide to take Emma in to her pediatrician, but her pediatrician is out for the day and we see someone new. I hate seeing someone new. I have to catch them up on so much. After I lay out a brief overview of Emma's medical history, her current presenting symptoms, what they might mean, and I why I have brought her in today, the new pediatrician says, "Wow. You MUST be a nurse. You talked me through that exactly the way I would have asked you and I agree with your conclusions."
"Nope," I say, "just a mom of kids with lots of chronic medical conditions."
The new pediatrician checks Emma's extremities and finds seriously delayed capillary refill throughout her hands and forearms, as well as in both feet. She notes that Emma has decreased air flow volume as she listens with her stethoscope. "She's not moving much air," she comments to me, "has she been coughing much?"
"Off and on, especially with exercise," I say. "We thought it was asthma."
The new pediatrician decides to refer Emma to a cardiologist. She suspects a heart condition. It could take 3 or 4 weeks to get in to see him. She tells me to keep Emma warm and well hydrated while we wait, and to take her to the closest children's hospital ER if she gets worse.
I'm trying to hold back panic on the way home. I don't know how one kid can have so many conditions. Emma's nephrologist e-mails me back saying that we should see a cardiologist, and if Emma's heart checks out to be OK, then maybe a rheumatologist to see if there is a peripheral artery disease of some sort. That gives me a little hope, peripheral artery disease sounds good at this point.
I decide to e-mail the video and a brief synopsis of Emma's symptoms to the world's leading expert on her genetic condition, who happens to be very friendly and often answers e-mails from people who aren't technically his patients. I met him once at a conference. He remembers me and calls me back within an hour. I love this guy. I want to hug him. He has shown the video of Emma's hands to a cardiologist who specializes in caring for heart disease in patients with Emma's syndrome. The cardiologist is not sure that it is a heart problem. He says Emma should see a cardiologist, yes, but that it might be something else. I feel better then. "So what could it be?" I ask. The specialist doesn't know. We talk through Emma's history again, in more detail. The specialist back tracks. Hmmm. Maybe it is a heart issue after all. He also proposes that I contact Emma's liver doctor to make sure it isn't liver failure. I'm not sure that I feel any better at all when I hang up the phone. But still I love that he called me.
I e-mail Emma's liver doctor and give her a brief update. I tell her that the ER doctor, the endocrinologist, the pediatrician, the nephrologist, the BBS specialist, and the BBS cardiologist had told me to check with a pediatric cardiologist, a rheumatologist, and her, just in case she has any idea what is going on with Emma. I debate whether to e-mail Emma's ophthalmologist just so she doesn't feel left out. I laugh to myself. Because sometimes you have to laugh.
I try to watch a movie, but mostly I'm watching my e-mail inbox, and thinking of other things to Google. I want someone to tell me what is going on with my daughter. I want someone to tell me what is going to happen to her. But no one can do that tonight.
I send Emma to her Grandma's for a sleepover because Emma will probably be fine, and because she just wants to be a normal kid. I remind Grandma to keep her warm, and make her drink water, and just to check on her, even though I know she will be OK.
My daughter has a complex genetic disorder. How is she doing? She's OK for now. I think. I hope she is. Of course there is that worrisome symptom that she's been having. Maybe it's nothing. Maybe I'm overreacting.
Maybe I'm not.