In the fall of 2011, Eric and I went through the harrowing process of getting predictive genetic testing. We had just learned the true cause of my mom’s death the year before, and come to understand that I was at 50/50 risk of having inherited her disease-causing mutation. We knew we wanted to move forward out of the sickening limbo this news had thrown us into. The strain and distraction of constantly wondering was not sustainable for us. The available path forward was testing. Not a comfortable prospect, but for us, the best of our bad options: a way to at least resolve the limbo, one way or the other. Quickly, we hoped.

After all we had been through losing my mom and learning about my risk, it would be lovely to imagine that the testing process might be smooth and swift. It wasn’t. We needed a medical professional to draw my blood, order the test, and receive and share the results. But as we talked to doctors about helping with this, a requirement emerged that we see a genetic counselor first, perhaps multiple times. Was this law, best practice, or physician uneasiness in the face of an unfamiliar rare disease? Some combination of all three? It wasn’t clear. I felt that at one of the most vulnerable moments of our life, we were being given the runaround. Many genetic counselors we contacted refused us, often citing lack of expertise in the disease. Every week that passed was another week of waking up in limbo, feeling tortured by my lack of access to a piece of information encoded in every cell of my own body.

In the end, we saw multiple genetic counselors. I don’t want to throw anyone under the bus here. Blame isn’t a useful frame for what was, in my final accounting, a system failure. But I will say that I came out of the experience feeling that the process had not served us.

I wish I could say that I did some deep breathing, processed my negativity and came to a gracious inner truce with the genetic counseling industry, built on empathy for the flux the field is in and the tremendous difficulty of the job. But in truth, it took me years to move past my sense of having been wronged. Years in which, through our work, I came to appreciate the wide, dynamic universe of rare genetic diseases, and the difficulty of understanding the shifting landscape of each. Years in which I met many other families impacted by genetic prion disease and heard many stories about their counseling and testing experiences. Some received no counseling at all, which led to its own confusion and distress. Some received inaccurate information. Some received accurate information but were left feeling abandoned with terrible news, without any resources or support to help them process it. Virtually all, no matter how they felt or had approached their prion disease risk, had family members who were feeling or doing exactly the opposite.

Over those years I began to accept invitations to speak to genetic counseling affinity groups, training programs, and societies. And I began to open my heart to the good these counselors and counselors in training wanted to be able to do for my community and so many others. The counselors I met were enthusiastic, earnest, and knowledgeable, and had chosen an emotionally challenging career path in the hope of being of service and support. These encounters, more than anything, helped me identify the opportunity in my own experience to help fill a need. Genetic prion disease is rare, and I can’t blame individual genetic counselors for not encountering it routinely in their practice. But we on the research side can collaborate into the genetic counseling field to make sure that current information on prion disease risk is synthesized with current counseling best practices, updated frequently, communicated clearly, and made available so that any practitioner with the right general background can efficiently tailor their expertise to serve a prion disease patient or family. We can arm them, too, with information about how the field is changing, on how to get involved, and on who to contact for support.

To this end, Jill Goldman and I have just published a piece entitled “Genetic counseling for prion disease: updates and best practices” in Genetics in Medicine. The piece is open access and available to anyone who needs it. I’m proud to have had the opportunity to partner with Jill on this effort — in addition to being a deeply experienced genetic counselor in the realm of adult-onset neurodegenerative disease, she is one of the few genetic counselors I’m aware of with a specific expertise in genetic prion disease.

In the article, we overview what is currently understood about the risk associated with different prion protein variants, including penetrance (the likelihood of developing the disease if you carry the mutation), age of onset, duration of disease, disease presentation, and variability in all of the above. We address questions that may arise in counseling a currently symptomatic patient and an at-risk individual, and questions that may arise with family, whether in a session or separately. We provide information on testing through the National Prion Disease Pathology Surveillance Center, on seeking support from the CJD Foundation, on joining PrionRegistry,org and on accessing more information on the science of prion disease through Prion Alliance and Finally, we speak to the prospect of clinical trials and the transformative value of participating in research — especially in a rare disease — if one is so inclined.

We are blessed that the landscape of prion disease is changing rapidly — we are gathering more data all the time and, most importantly, we are making progress towards new prospective therapies. So, it is actually good news that an article like this one won’t stay current for very long — it will and should be superseded by a new update every few years. With that said, for now, I hope this tool will fill a need. I hope it will allow more genetic counselors to feel confident supporting the families in our community, across the spectrum of preference — from those averse to testing to those who are uncertain to those who, like me, know they want to test and feel tortured by every delay. I also hope it will help them convey the nuance of our current moment. Prion disease remains untreatable today — but we have more hope of a therapy in our lifetimes than we ever have. Despite the rarity of prion disease, we have strong diagnostic tools, robust patient support groups, and a level of organization that will facilitate future clinical trials. We have new reason to believe that engaging with genetic risk early may eventually open up the possibility of preventing or delaying disease, extending healthy life. This is a lot to have — and this list is growing in real time.

No one wants to be in the position of being counseled on prion disease. I certainly didn’t want to be. And I can’t rewrite the way those terrible months at the end of 2011 played out for me. But I hope that in lieu of being able to change the past, we can seize what opportunities we have to change the present — by making sure people who find themselves at that same vulnerable crossroads are given clear information, support, and hope, no matter their test result.

And meanwhile, of course, there’s the important work of changing the future, by doing everything we can to hasten the day when a positive test result comes with a treatment plan, and a prospect for a long and healthy life.