I know this is not a popular stance, or maybe it is, but if living with a child (he may be 18 now, but he’s still my child and will always be-and he will always live with me!) with a rare form of Epidermolysis Bullosa has taught me, is that no matter how much a Doctor cares, sometimes he or she can be wrong.
I read a book a few years ago about a local mother whose teenage daughter was diagnosed with a rare form of Brain Cancer, which is almost always incurable and impossible to detect before it becomes deadly. The Doctor did everything he could to treat her and by some miracle it looked as if the Cancer went into remission several months later. She trusted the Doctors blindly. Because Cancer is not exactly rare as a whole, unlike the hoops I had to jump to find information, she put her entire trust in them, so when they told her to wait an “x” amount of months to check for reoccurrence (to see if the cancer showed back up) she didn’t question them. Problem was, that was too long to wait, but she never researched it. If she had, she would have known different, as she readily admits in the book. Weeks before she was due for a checkup, she noticed on Thanksgiving photos that her daughter’s smile was crooked. As soon as she realized this, she took her to the Doctor only to find out that the Cancer not only had come back, but come back viciously, being much larger than it was when it was first diagnosed and too far along to be treated at all. They gave her daughter a few months to live. In the book she describes quite poignantly the last 3 months of her daughter’s life and the decline from a vivacious cheerleader who would have been upset to have her mom see her naked, to needing her mom to hold her in the bathtub. She died in her arms.
After reading this book I became adamant in keeping up what I have been doing all of Nicky’s life. I had to keep researching everything. Nicky’s form of EB was one of the rarest, and as much as I admired and trusted his Doctors, I also knew that I – and Nicky once he was old enough to understand – had the final say in everything. Not two patients are the same, so I had to lean against caution. There are so many different forms of EB with different genetic mutations, each patient can truly be quite different from another, even if diagnosed with the same subform. I knew Nicky best, Nicky knew himself best. Basically I heard what they thought Nicky needed and if we felt it sounded right or reasonable, we went ahead with it. I also don’t think “extreme” caution is warranted at times, such as doing blood-work every month. His numbers rarely change month to month and it’s agonizing for Nicky to get his blood drawn. In other words, at the end of the day, this is Nicky’s life, we make our own decisions. I’ve never been able to trust any Doctor blindly and I don’t plan to start now.
It’s a difficult position to be in to be honest. In some ways, we have no choice but trust the Doctors, but on the other, it would be irresponsible to think any Doctor can possibly know with exact precision and absolute certainty what Nicky needs. To illustrate how unique my child is, you have to think that the subform of EB that he has (Recessive Dystrophic Epidermolysis Bullosa-Hallopeau Siemens subtype) has only been diagnosed in a little over 130 patients in the entire United States. His genetic mutation has only been seen in 1 other patient worldwide. ONE! It feels as if we’re on our own to a large extent. What works for many other patients does not work for Nicky, what works on Nicky does not work on other patients either. It’s a constant endeavor of thinking outside the box, and at times it has been a maddening experience.
It’s good to know that I don’t have to feel guilty about the fact that I CAN disagree, however, I still do. It’s ok. Par for the course, I guess.
Love & Light,