To the Parents Starting Their Journey Into the World of Rare Disease

I’ll never forget the first time a medical professional told me something may be wrong with my then 2-year-old. He said, “Not all kids are athletes or Olympians, but they learn to compensate in other areas.” This was undoubtedly an odd way of starting the conversation that my child needed to see a neurologist because she wasn’t walking independently. 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 percent certain your daughter is slowly dying of an incurable disease they are unable to 100 percent diagnose. A world where science offers hope for a diagnosis, 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 unless we know what type of disease was affecting our daughter, 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 challenge remains with the caregiver to make day-to-day decisions.

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, the best antibiotics to use, and all the way up to best anesthesia. Now we are armed with an emergency protocol letter containing all of this information. To say this piece of paper is a life-line is an understatement.

When you have a child like our daughter, 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 this 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. 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 us home without plans for future testing. Yet, our guts told us his diagnosis was incorrect.

Unfortunately, some professionals fail to acknowledge what they do not know. I say this not to judge their character or intentions, which I believe are mostly good, but with the hope that they see how this mind-set doesn’t offer any positive progress.

A member of our daughter’s team must be willing to take a leap of faith, acknowledge what they do not know, and never underestimate the power of the human spirit. After all, 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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