Why I No Longer Fear My Children's Disease


Dear Bardet-Biedl Syndrome,

I first met you when I was 23 years old, when all my husband and I expected to find out was whether our first precious child was a boy or a girl. We met you through the words “her kidneys are a little too bright.” You struck through my heart with a new type of fear I’d never known existed. When Naomi was born I learned that you brought confusion and apprehension. Club feet? Large abdomen? Failing kidneys? Intensive care? What do you mean you don’t know what’s wrong? I had to learn to live with not knowing because no one knew who you were or what you would bring next. I had to learn to live with hoping you would stay quiet, whoever you were.

I slowly came to know you as Naomi grew. You were cystic kidneys and liver fibrosis. You were developmental delays and therapies. You were sensory integration disorder, and then you were autism. You were endless stuttering and endless tantruming. You were strabismus, a hernia and a heart murmur. To my great relief, two separate geneticists assured me you were not a genetic condition, and then, to my horror, my third daughter proved you were. You were all consuming.

Naomi Newborn

For Emma you were such a severe speech apraxia that we wondered if she would ever learn to speak. You were slowed brain waves, and we wondered if she could hear all right, if she could see all right, if she would learn at all. I begged the professionals to tell me who you were, but you were elusive, a monster in the shadows, and I feared you more than ever.

I set out to find you, to name you, to look you in the eyes and to fight you. You were doctor after doctor after doctor. You were a trip to the National Institutes of Health and innumerable trips to specialists in big cities hours from home. You were endless blood draws from my babies as I held them down and they screamed for me. You were ultrasounds and sedated MRIs. You were hours and days and weeks on the internet: on PubMed, in forums and in the bowels of genetics home reference. You were three trips to three different conferences where you weren’t. You were e-mails to professionals who sometimes answered and sometimes didn’t but who could never give me the answer I needed. You were a phantom. You haunted us.

When I finally pinned you to the ground with Wikipedia and a Facebook group, when I finally turned your hideous face to mine with definitive genetic testing that I arranged for, ordered and sent off with my own two battle-worn hands, when I finally drug you out of the shadows and looked you over from head to toe — you were worse than I’d ever imagined. You were in every cell of their bodies.

We’d already known you were kidney transplants and possible liver transplants. We’d known you were autism and clumsiness. Now I saw that you were also a lifelong battle with obesity and other endocrine disorders. You were precocious puberty. You were possible loss of smell, possible loss of hearing. And you were, without a doubt, progressive retinal degeneration. You were a lifetime of blindness that had already begun to take hold and was closing in fast, and I was terrified of you.

You were quiet tears that first night. Then you were long, quiet evenings on my front porch, watching the sun go down and the stars come out, the stars I’d just realized my daughters could no longer see. You were hours at the computer once again, finding friends who also knew you, grasping for words to unleash my heart on the screen. You were grief.

You were grief… and then you were courage. You were a new conference filled with new people who laughed with their white canes in hand, who smiled with their guide dogs by their sides, who greeted old friends and pushed for new research. You were a room filled with people who could never tame you but were at peace with you.

Dear Bardet-Biedl Syndrome, I want you to know that I realize you will always be grief, but you are more. You set a fire beneath me that’s taught me strength and tenacity. You’re a prod behind me, forcing me to push my limits. You’re an ominous cloud, urging me to savor the sunshine. You’re the boulder on my daughters’ shoulders that makes my heart swell with pride when they succeed, when they smile around you, when they wake up content to live each day underneath you. You’re the rod that’s beaten me to be more humble, more compassionate, more grateful and more joyful than I was without you.

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There are ways in which I, of course, wish I’d never met you, but I also know that you’ve formed us. I will never like you, but I’m no longer afraid of you. You are our story: confusion, grief, courage, joy and hope.

Your enemy and your friend, until death parts us,

Naomi and Emma’s Mom

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