This question was posed to me recently in my email via wordpress.com, as a blog prompt. I read it a few days ago and it has been on my mind. As I consider writing about this topic with broad strokes or minuscule dabs, I think about my life and what I’ve accomplished and what I’d like to accomplish and want to go lie down and take a nap. A writer should know this, I tell myself. A knee jerk answer, on the tip of my tongue. Thing is, I have tried my whole life to try. Tried to be a good student, a good runner, a good wife, a good mother, a goodgoodgood person. Now I need to try and change the world? Yep, that nap is sounding pretty good right about now.
Ok….done with the nap. hah. So I let my mind wander over the ragged, tattered journey of my life and I seem to keep coming back to the one thing that has done the most to shape who I am today and how I see myself putting in my two cents. The name for this beast I am trying to tame is Tuberous Sclerosis, a genetic disease that causes benign tumors to grow in different organs of the body.
Sounds benign, right? Not so, not so. The hitch is that these tumors or “tubers”, often interfere with normal functioning of whatever organ in which they present. Take, the brain for instance. These bad guys come in all shapes and sizes and can severely interrupt the function of the brain leading to a vast array of seizure types, cognitive delay, autism spectrum disorders, learning disabilities, ADHD, anxiety, depression….shall I keep going? The kidneys get hit badly too. Kidney lesions can run rampant and grow to all kinds of shapes and sizes, ultimately disrupting kidney function so badly that it is possible to need a kidney transplant. The skin is the outward expression of this, what can be to many undiagnosed, invisible disease. Certain skin malformations, some looking only like birthmarks, or acne, can be a key diagnostic tool when say, your husband, shows up at the hospital with your six month old baby, who is having unexplained seizures.
Bingo! Get the neurologist on call, a wood’s lamp (can illuminate some almost invisible TSC related skin conditions) and you’ve got a family history of Tuberous Sclerosis Complex! That’s kind of how it happened to our family….unbeknownst to us, my husband had the condition and was never officially diagnosed and had few symptoms. None that would make him overly concerned. All that to say, we’ve had a long, rocky journey with this condition and defying all odds, clinging merely to hope and faith, we went on to have three more children, after our oldest daughter (now 17), was first diagnosed. Two more have tuberous sclerosis and our youngest does not. All three of our kids with TSC are each affected differently, in different ways, with different levels of intensity.
My intent in writing this blog, is to share my personal journey, walking through my days, their days, our days, carrying this monster of a diagnosis, yet living with it and sometimes, some days some moments, learning from it and thriving. I hope to share the highs and lows, the moments of such intense pain and fear that I feel as if I wish the world would split open right then and there and swallow me up, to the high of hearing our incredible pediatric neurologist, tell me that these kids, these kids who have taught me daily, are all doing well!!
starting to get a glimpse of what this has been like for you over all these years. thanks for sharing it.
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