ADPKD Patient Perspective

This week’s NephJC article is a first, this is the first time a patient suggested the article. In exchange we asked him to write a patient perspective on Nephrology, CKD, ADPKD, and NephJC. So here is the patient’s perspective by @KidneyRebel.

Q1: What have been the biggest challenges of living with PKD?

While I am largely asymptomatic except for some suspected weight gain from my growing kidneys, the biggest challenge for me with PKD is the uncertainty of what my life will look like.  Will new treatments be approved in time to keep me from getting to ESRD? Will I be able to maintain the quality of life I want?  Will the six-figure annual cost of Tolvaptan ever be a problem?  Will I go on dialysis and see a shortened lifespan?  Will my ever expanding kidneys disfigure me? Will I spend years waiting for a transplant? What if a transplant fails?  Will anti-rejection drugs lead to major health issues? Will I be impacted by cardiovascular implications of PKD?  

I have successfully targeted a blood pressure of 110/70 and measure it daily, drink at least 3 liters per day, keep salt and protein intake to reasonable levels and do aerobic exercise about five times a week.   I also went on Tolvaptan as quickly as I could after FDA approval. As a result, I have to go to the bathroom rather frequently.  While I don’t view these as overly burdensome, I also I view myself as a highly motivated patient who will do what it takes to slow progression. 

Q2: As a patient not trained in biomedical science, you have been following NephJC chats. What inspired you to follow and now join the conversation, and what does the conversation mean to you?

Knowing that I would probably eventually get to ESRD, I became increasingly concerned about (a) the lack of innovation in dialysis treatments and (b) the sense of frustration that is apparent when I read what the nephrology profession writes about itself. 

I wasn’t sure how to express my concerns, and began to follow the nephrology profession on social media.  I saw a lot of very interesting kidney related research, but not much on the dialysis machine in a world where technology moves forward at a brisk pace.  

I hesitated to speak up until the ASN hosted a Q/A on KidneyX via Twitter in June, which changed my mind.  I posted some tweets during the session calling for more innovation, recruitment into nephrology of people who are not fans of the status quo, and building relationships with nanotechnologists and others who could spur revolutionary change in dialysis. I was pleasantly surprised when half a dozen nephrologists from leading institutions liked at least one of my tweets and a leader of KidneyX who is also a nanotechnologist agreed with my nanotechology tweet.  Interestingly (as I see gender equality issues in nephrology addressed on twitter), most of the nephrologists who liked my tweets were women. 

This led to me delving further into #NephTwitter and watching NephJC chats. I am very happy that the NephJC and #NephTwitter are readily accessible forums for spreading innovation and discussing ideas in nephrology. As someone who works daily with talented people around the globe on a virtual basis, I see tremendous potential in bringing people together who might never otherwise meet to share ideas and build relationships.   I hope this will greatly accelerate the creation of knowledge in kidney care and help make nephrology the most innovative, impactful and exciting of all medical specialties.  

Q3: The paper by Su et al. in Science magazine presents a high-resolution structure of the PKD1/PKD2 complex, providing basic foundational knowledge for future studies to tease apart molecular mechanisms of disease. What was your reaction to finding out about the publication?

I learned of the paper via #NephTwitter almost as soon as it was published.  I could tell from nephrologists’ tweets that it was a major discovery.  Thanks to #NephTwitter, I was able to get an explanation in lay person’s terms as I have not had a biology class since high school.  I was especially excited to learn that understanding how the two key ADPKD proteins interact is fundamental to understanding the disease, which can help lead to  highly targeted research  and developing new drugs and treatments.  When I saw several nephrologists suggest a Q/A on the topic, perhaps on NephJC, I reached out to via twitter to encourage the NephJC to host a session on the paper.

Q4: Is there anything else you would like to communicate to the scientists researching PKD and to the physicians treating PKD patients?

I commend the scientists researching PKD and am excited to see a number of opportunities in the pipeline, from drinking more water to drug studies to studies of the molecular structure of PKD.  I follow the research via news accounts, and PubMed and am impressed by the breadth ideas under investigation.  Eager to be a part of the solution, I have happily participated in several research studies.          

More generally, I hope that all kidney scientists and physicians will take an inter-disciplinary approach to their work.  Just tapping into the knowledge within the universities where many academic nephrologists work, I can only imagine the wealth of knowledge that could be applied to generating new frontiers for nephrology, such as applying ideas from materials science, filtration, and artificial intelligence to kidney care. 

Given the often vastly different outcomes between the variants of PKD, I would also like to see more efforts to bring down the cost of genetic testing so patients can know which variant of PKD they have.

The same can be said for the cost of MRI imaging to measure total kidney volume so patients and their doctors can have a better idea of their time to ESRD based on the Mayo ADPKD classification.

In the clinical setting, I have been fortunate to have wonderful doctors who have taken the time to answer all of my questions, especially given the myriad of issues PKD can involve, and to help me get my blood pressure down to targeted levels.  All of this took considerable time in clinic and via electronic communications.  I would hope all nephrologists will do the same.  

Just looking at the SONG-PKD survey, I was shocked to see questions such as the impact on family/friends, depressive symptoms, ability to do usual activities, fatigue, mood, hospitalization, physical functioning/strength, among others. While I am fortunate not to suffer from those, I hope that those treating PKD patients have a heightened awareness of these potential mental and physical symptoms their patients may face.