Team Rare Disease

In many ways, I feel as though I have a good idea of what it entails to raise a future Olympian. The practices, the travel, the debt, the ups and downs, the feeling that you only get one shot at success, and the witnessing of a powerfully determined spirit.

Except my child isn’t competing to be the best in her sport; she wants to learn to walk with a gait trainer, and then have the strength and balance to take steps independently, and maybe, just maybe, twirl like a ballerina in her tutu.

I’ll never forget the first time a medical professional told me something may be wrong with my then two-year old. He said, “not all kids are athletes or Olympians, but they learn to compensate in other areas.” No doubt, this was an odd way of starting the conversation that my child needed to see a neurologist because she wasn’t walking independently, and nearly three years later,  I’m still shaking my head over his bedside manner.

What began as that awkward referral to a neurologist, turned into an eye-opening, emotionally draining  journey into the world of rare disease. A world where the tear-filled eyes of neurologists tell you they are 95% certain that your daughter is slowly dying of something they are unable to 100% diagnose; a world where science offers hope but at a high cost and without any guarantees for results.

In this world, parents quickly learn to fend for themselves because the same answer from the medical community is on repeat: We do not know at this time. I’ll never forget when the impact of this uncertainty hit me over the head. As I made a defeated walk across the campus of the Cleveland Clinic with my daughter in my arms, I realized we were on our own. I remember thinking that unless we know what type of disease was affecting our daughter, then we won’t know how to treat her, ranging from the decision to treat symptoms with tylenol versus ibuprofen, all the way up to different types of anesthesia. When you do not know the what, the how becomes a parent’s worst nightmare.

In the absence professional assistance and experience, the burden rests on the caregiver to make day-to-day decisions. If you have never been in this position, please take a moment to count your blessings.

We are all conditioned to believe that doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training, and perhaps, most importantly, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat what ails you.

When your child has a rare disease, however, most doctors have never seen a patient like your child. It isn’t the doctor’s fault; they may be the best doctor in their field and still not know the answer because you don’t know what you don’t know. An excellent doctor will not be afraid to admit this.

We consider ourselves amongst the lucky because Whole Exome Sequencing gave us answers, confirming the genetic mutations causing our daughter’s disease. Knowledge about her type of disease opened the door for vitamin supplements, a clinical drug trial, therapy options, and basic answers to questions regarding tylenol vs. ibuprofen, best antibiotics and anesthesia, and now we are armed with an emergency protocol letter with all of this information. To say this piece of paper is a life-line is an understatement.

When you have a child like Katherine, the word “team” is used often to refer to the people we’ve hand-selected to give her the best chance possible at life. From medical professionals, to physical, occupational, and speech therapists, to the school where she spends her days, to clinical trials, these people make up our team.

As her caregiver, my job is to manage the team – to interview prospective members, to facilitate the communication of short-term and long-term goals, and to coordinate best practices and outcomes to other members. The stakes are HIGH and only the best will get the opportunity to be a part of her team. This is our one shot to get it right, so I really don’t have much use for inexperienced, uncooperative, or narrow minded team members.

Sometimes it is difficult for a trained professional to suspend their beliefs, which is pretty much required when dealing with a rare disease patient. After all, there is not a scientific, medical, or mental database from which to compare best treatments. Realistically, though, they are trained and paid to test, analyze, and give an opinion. That’s what we are asking them to do, after all. More often than not, there is strong scientific evidence and documentation to support that opinion. When that doesn’t happen, when they really just don’t know, that’s when their character and belief system matters most to us.

We decided to interview doctors to select one with the best experience and credentials, yet willing to admit he or she didn’t know everything. We learned very early that you don’t have to “hire” just any professional, that shopping around for a good fit is important. At the time we had been told by one doctor that our daughter was dying and basically sent home without plans for future testing. Thankfully, I didn’t feel this diagnosis was correct. Of course, I debated the power of denial verses motherly instinct for a year and a half, but in the end, instincts beat professional ‘opinion’.  And why shouldn’t you question an opinion based on the comparison to one – just one – other patient? Clinicians are taking a shot in the dark when they say they think your child has a particular disease they’ve never seen before. Truly.

Ultimately, I feel sad for the people who make statements like, “your child will never be an Olympian,” or “this family needs this genetic test to get closure on my diagnosis because the child is dying,” or “her parents think she’s going to be running up these hallways next year, but that’s not going to happen.” These professionals fail to acknowledge what they do not know. They make broad assumptions based on their experiences and fail to take into account the power of love, determination, and above all, the human spirit. I say this not to judge their character or intentions, which I believe are good, but with the hope that they see how this mind-set doesn’t offer any positive progress.

We are not unrealistic about the challenges our daughter faces, but nobody can say with certainty that she won’t walk independently or be an Olympic athlete. What I do know is she has more determination in her pinky finger than most have in their whole being.

Believing something is possible when everything tells you it isn’t takes a leap of faith, but in the end, regardless of the outcome, people don’t feel disappointed at the people who believed that anything was possible.

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One thought on “Team Rare Disease”

  1. What a lucky little girl KB is to have you for a mother.I think God knew this when he gave KB to you all.with you and God in her corner, her will and want to,who knows what she can do.I will be praying for all these things for KB.

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