As advocates, we diligently commit to broadening awareness of Huntington's and Juvenile Huntington's disease. For many of us, this is a daily routine in our lives. But what happens when you are confronted with the ignorance of a medical professional? Across social media, we often see our fellow Huntington's patients and families struggle with this conundrum.
On August 30, 2018, my sister-in-law (Patricia Valvano), and my niece (Jessica Valvano) came to our house for a visit. As on most occasions family come over to shoot the breeze and check on mom. However, from the expression on my sister-in-law's face, I knew they stopped by for another reason. I also saw a piece of paper in her hand.
Lately, we've had many sicknesses in the family, so I just assumed something was wrong. Patricia handed me the piece of paper and asked me, "Is this right?"
The piece of paper was indeed a prescription for the Huntington's Disease test. My niece Jessica had made the choice to get tested. After informing them that the prescription was correct, I told Jessica that I was proud of her for making the decision to get tested. However, that was not the reason for their visit.
While visiting their primary care physician, Jessica made the choice to ask him to write the prescription for her to have the test run at Quest Diagnostics here in town. What I heard next confused and shocked me.
"I told the doctor about our family history with Huntington's disease and told him that I wanted to get tested. He looked at mom and me and told us that only men could have Huntington's disease and pass it on to other men. He said that women do not get Huntington's disease." Jessica Valvano
Honestly, I was shocked in the moment, but it didn't overly surprise me because I've heard this too many times from community members across the globe. I asked Patricia and Jessica what else was discussed. I listened to their stressful experience.
"I started to get very angry because I couldn't believe that he actually said that. I had to assure him that women can get Huntington's disease and it runs in our family for both men and women. He asked if we were sure!" Jessica Valvano
"Of course we are sure! I can tell you everything you need to know about this disease because it's been in our family for over ten years and we've only had two relatives receive a negative test result." Patricia Valvano
Both Patricia and Jessica reported that the doctor was very surprised to hear their responses. He wrote the prescription, and they left his office.
I let both Patricia and Jessica vent, then I explained to them that they are not alone. Now for those of you reading this, I know what could be running through your mind:
Why didn't they go to a specialist? Why not see a Neurologist, Psychiatrist, Genetic Counselor? Why did they go to a Primary Care Physician?
These are great questions; however, the answer is quite frustrating. It's been a personal battle for me when advising hundreds of families over the years. Simply, a Primary Care Physician CAN provide a prescription for the Huntington's genetic test. The current recommendations (and you can find them across the internet) are just that - recommendations. They are not laws or requirements. In my opinion, and in the opinion of families across the globe, a person should have the right to have the genetic testing procedure if Huntington's disease runs in their family. Inasmuch, when a person has experienced caregiving, or witness a loved one pass from this disease, they should have to right to wave the current "recommendations" and have the choice to get tested. I am not naïve, and I completely support the current recommendations for those who need it and for situations which warrant the process. Truly, this is self-explanatory, and I wish that more conversations were taking place regarding this specific topic. In these situations, medical professionals need to learn from their patients and in many cases, honor their decision based on their history and experiences with Huntington's or Juvenile Huntington's disease. In fact, HD/JHD patients and families know much more about this disease than many medical professionals. I wish this weren't true, but it is.
Close to a dozen of my family members have chosen to have the genetic test - all who received a prescription from their Primary Care Physician. Why? Because we live with Huntington's in our lives each and every day. Sadly, we have only had two family members receive a true negative result.
As I said to both Jessica and Patricia, they educated yet another doctor. Huntington's disease is not a one-size-fits-all disease, and this should apply to each individual who wishes to get tested. The advocacy mission isn't always easy, but we continue to broaden awareness even in the most peculiar circumstances.