What If?

I can still remember that fateful day, 8 years ago, when I got the call at work. My younger sister had taken my Mom to the ER (after much begging and pleading, and some bribing) for severe abdominal pain. The tests came back to show a ruptured kidney, and large amounts of internal bleeding. She had been taken by ambulance to a larger hospital, and was awaiting further test results.

The doctors discovered a large tumor had been growing in her left kidney, killing the kidney long before the remains ruptured. The tumor would need to be removed, along with what was left of the kidney. The bleeding had stopped, but there was too much blood in her abdomen to move forward with the surgery. She was sent home on bed rest for three months, and had surgery a few days before Christmas. My Mom spent that Christmas in the hospital, drugged up on morphine.

Her recovery was painful, but luckily her remaining kidney functioned exceptionally well. Her prognosis was excellent. But 6 months later, something still felt wrong where her left kidney had been. She headed back to the urologist, concerned that they hadn’t removed everything, or that the tumor had regrown. An MRI showed that everything on her left side was fine. But a new tumor was growing on her right kidney, and it was growing at a tremendous pace. They compared her MRI from just months before, and there was no sign of a tumor. A second, much more invasive surgery was scheduled to remove the tumor and half of her right kidney.

Kidneys are fragile organs, and there was concern that operating on her right kidney would cause it to fail. And she didn’t have a second kidney to fall back on. But the kidney immediately went back to functioning normally, and the urologist marveled that she had better kidney function with half a kidney than many of his patients had with two. Typically someone with her history would be permanently disabled, but she recovered beautifully, and went back to her very physical job not long after. With only half a kidney, she has to be cautious about her blood pressure and other health issues, but overall she’s healthier now than she was before.

I’d love to say the story ends there, and life returned to normal. And for the most part, it did. Actually, it was part of what spurred me, and my parents, into fixing our financial lives. But the thing is, kidney tumors aren’t a common thing. One kidney tumor, fine, things happen. But two, non-cancerous kidney tumors? That’s a big coincidence.

In the midst of preparing for her second surgery, the doctors suggested that it likely was more than a coincident. It turns out, there’s a genetic disorder that likely had caused it. But, there was a lot going on. You know, losing half a second kidney and all. Genes weren’t exactly the big priority! So, the years went by. Occasionally she’d mention it, but nothing more. She knew a little bit about the disorder, but not much, and she wasn’t sure she wanted to know more. Life was good. Why rock the boat?

But as the years passed by, it began to weigh on her. She knew that the disorder was often hereditary, although sometimes can be caused by a spontaneous gene mutation. She knew she likely had inherited it from her father, who had a tumor removed from one of his lungs when she was a child. This disorder causes tumors to grow in internal organs like the kidneys, lungs, brain, and heart.  The mutated gene also is responsible for other growths, such as cysts and polyps. These tumors and growths are found in a variety of places, including in the bone, and under the skin. And she knew it was likely, if this genetic disorder was responsible for her kidney tumors, that she had passed the mutated gene down to at least 2 of her children.

My Mom was very upfront with my younger sister and I that it was possible we had inherited a gene mutation from her. The occasional cyst was something we’d come to expect as a normal part of our lives; after all, we’d been dealing with them since we were teenagers. But the issues slowly began to stack up. My sister developed a growth in her forearm, about an inch long, that became painful and had to be removed. My Mom now has two similar growths in her arm. A growth has been discovered in my Mom’s jawbone that is destroying the bone and several teeth. She’ll need a fairly extensive surgery to remove it, and repair the damage. I’ve been lucky,the worst I’ve suffered was an infected cyst, and the occasional joys of being biopsied and prodded.

Since we’ve been together, the boyfriend and I have been back and forth about whether children would be in our future. The more I talked about it, the more worried my Mom became, and the more she decided to research. There’s a 50% chance of passing the gene mutation on to your children. In addition to organ tumors (which often show no symptoms until too late) and cysts, there are a myriad of other issues associated with this disorder, especially in children. Seizures (which my sister had as an infant). Emotional and mental disorders, ranging from learning disabilities and ADHD, to autism and bipolar disorder. And, in the more extreme circumstances, mental retardation, and even death.

The symptoms of the disorder are definitely there. But, as they say, ignorance is bliss; without a diagnosis, we could go about our lives as if nothing was wrong. We’d been lucky so far, escaping the very worst. My Mom was worried our luck would run out. A few months ago, she informed me that she was going to ask her doctor at her next appointment about getting a genetic test. It would be the first step in finding answers for all of us. In the course of our discussion, she said something I knew eventually would be said: You should really consider if it’s worth the risk before you decide to have a child.

Ignorance may be bliss, but eventually, reality catches up. Every 3 years, my Mom’s doctor requires her to have an abdominal MRI, to check for growths on her remaining half a kidney. Her MRI from a few weeks ago showed her kidney was fine, but turned up something else unexpected: Multiple tumors are growing on her liver. They didn’t give her much information, like how many, what size, or whether any damage has already been done. She won’t know more until she meets with a liver surgeon in a few weeks. She’s pushing ahead to find a Specialist who can help her with genetic testing, and hopefully a diagnosis.

I’ll admit, it’s a lot to take in. I’m extremely worried about my Mom. I can’t imagine what she’s going through right now. The wait to know more is excruciating. We’re assuming she’ll need surgery to remove the tumors. It’s surreal to think that things are growing inside her body, destroying her internal organs, and yet she has no symptoms. Nothing to warn her that something is wrong.

Right now, I want to concentrate on my Mom. She actually has something wrong. But a small part of my brain keeps coming back to the idea that this might affect me, too. It seems extremely selfish to worry about what this might mean for me. It might not mean anything for me; there’s no proof right now that it does. I worry about my younger sister, who tends to live according to her whims, ignoring responsibility and throwing all caution to the wind. If it turns out to be a genetic disorder, she’s unlikely to seek the care she needs, or follow the guidelines on routine screenings. I feel the weight of responsibility for the fates of future possible children. Something feels so wrong in considering genetics when thinking about having children, and yet it feels wrong to not.

So that’s where I am right now; Stuck in a place of sadness and worry, of selfishness and indecision, of fear. And all I can do is wait.

– Cindy W.

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