I spent ten and a half years wishing I knew what was wrong with my children: ten and a half years dealing with chronic disease that had no genetic explanation, being blindsided by new symptoms that doctors occasionally accused me of making up or blowing out of proportion, spending frequent late nights researching and reading internet articles either in the attempt to pinpoint the genetic condition or at least find ways to alleviate some symptoms. We flew to conferences, even flew to the National Institutes of Health for a week and had our girls checked by the best of the best. Their conclusion? "Eh, we're not sure what's up with your kids, but you know, their diagnosis is close enough."
Okay, that wasn't a direct quote from them, but it was the gist of it. They only problem is that their current diagnosis wasn't close enough, leaving far too many symptoms unexplained and not properly treated. They promised more testing, and I signed the consent forms, but they never came through with it. Funding was cut when the national budget was slashed, or so I heard. They stopped answering e-mails. And I was on my own again.
I spent ten and a half years wishing I knew what was wrong with my children, but now that I know, now that I've had 6 months to let it soak in, I've realized something: maybe I wasn't ready for that news ten and a half years ago.
I was a tender twenty-two years old when Matt and I went to that first ultrasound, from a family that had no hint of genetic illness or birth defects of any kind, from a school system that kept the different kids safely locked away, from a society that kept the unique people out of sight and out of mind, because we all felt better that way. Just the mention at the next appointment that something might possibly, possibly be wrong with my baby's kidneys threw me into a world of emotions that I had no idea how to process. Babies can have kidney disease? What happens to them? Can they treat it? Do they die? What will her life be like? What will my life be like now?
Do you know what never, ever entered my mind at that point? I never even considered that kidney disease might not be the only problem my daughter would face. And do you know what I've realized now? That was enough for me to process at that time. God knew that. And he is merciful.
At her birth we learned she had clubbed feet. Clubbed feet and kidney disease were enough for me to handle after delivering a new baby. Within the next year we learned she had a unique and challenging personality and general developmental delays. That was more than enough to deal with then.
Naomi's kidney doctor kept us purposefully in the dark. We resented it at the time. He never used the words polycystic kidneys, even though I caught him writing it as a diagnosis in his chart once, instead using more general words like chronic kidney disease around us. He would never give out more information, but would instead say, "She's fine for now. Take her home. Enjoy her. Have a good Christmas together." Matt and I would joke that his motto was, "You want the truth? You can't handle the truth!" We still call him Dr. You Can't Handle the Truth.
And as angering, and I still believe wrong, as it was for him to do this to us, maybe, … maybe we couldn't have handled it then. Maybe at twenty-three years old, as a new mom, I didn't need to know that I would one day have two girls with chronic kidney and liver disease, general developmental delays, autistic-like traits, severe speech problems, heart murmurs, endocrine abnormalities, metabolic differences requiring special diets, a life-long propensity towards morbid obesity, and retinal degeneration leading to blindness.
It's difficult to know whether I'm angry or thankful that it took ten years for my girls to get a correct diagnosis (and only then because I took matters into my own hands), or whether I am thankful that I didn't get handed the diagnosis of Bardet-Biedl Syndrome as a twenty-two year old mom at a first ultrasound so many years ago. I would have been petrified. The news was hard enough to absorb in stages.
At the Bardet-Biedl Syndrome conference this June they discussed how the average family waits ten years for a proper diagnosis and how unacceptable this is--how better eduction of physicians and better testing need to improve this. But as I think about it, I am undecided.
Would it have been better to have immediate answers for strange symptoms and immediate access to specialists and testing? Would the worry and frustration that a correct diagnosis relieved outweigh the enormous burden of knowing sooner about the many facets of this syndrome that were completely out of our control? Would I have worried over hairs that I couldn't add to my head and inches that I could not add to my height? Would I have over-protected my kids and not pushed them to keep up with their peers? Would I have been brave enough to teach them how to ride bikes, calm enough to sign them up for soccer, and stern enough to discipline their easily-excusable behaviors?
I used to be livid when doctors suggested that we had enough information on our daughters to care for them at that time. I still think it was wrong for them to be laissez-fare about my girls' care. It is their job to gather as much information as possible because they do not know what information they may find that would make a real difference. Had we known sooner, I think both girls would have been enrolled in more rigorous therapies from an earlier age. I could have gotten a jump-start on monitoring their diets and their weights more closely. And I certainly could have saved thousands of hours of computer research. But in the end, maybe we were all better off for not knowing.
We didn't know enough not to treat them normally, and while that sometimes put unrealistic expectations on them, it also made them into two tough, determined little girls. They are relatively healthy, they are active, they are happy, and when we finally got the BBS diagnosis it wasn't quite the polar-plunge shock it would have been ten years ago.
Sometimes I wonder about the burden placed on young, new parents by routine ultrasound and readily-available genetic testing. Sometimes I wonder if it's better not to know everything all at once. To this day, I'm not sure if I would rebuke Dr. You Can't Handle the Truth, or thank him. Maybe some of both, because in the end, after the diagnosis has been made and the dust has settled, you know what I've come to? We're going to take them home, enjoy them, and have a good Christmas together.
Maybe Christ was right that my heavenly Father knows what I need. Maybe there was wisdom in his teaching recorded in Matthew 6:34, "Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own."