March is Kidney Month

I received the below advocacy alert and letter template from the PKD Foundation encouraging people to reach out to their representative in the U.S. House of Representatives. The purpose was to ask for support of the 21st Century Cures initiative aimed at closing the gap between # of diseases and # of treatments available.

I absolutely wrote a letter to my representative, why you ask? Because I have a disease (PKD) for which there are no approved treatments in the United States to stop it's progression.

I've included my letter below, for many of you this will sound familiar. It's the same story I shared in my letter to the FDA advocating for a pharmaceutical treatment for PKD. However, there have been 2 major changes to my story.

The first - this past summer my uncle lost his battle with PKD. The good fight was fought. I cannot tell you how much this makes my heart ache.

The second - my mom turned 60 last year and still has no immediate signs of severe reduction in kidney function, this is a huge milestone for living with this disease.

Dear Congressman Brat,

March is Kidney Month and today kidney patients and their caregivers are in Washington, DC. I may not be there with them, but as your constituent  I want you to know about polycystic kidney disease (PKD) and how the 21^st Century Cures initiative holds promise for development and approval of the first-ever treatments for PKD in the United States.

I have PKD. Polycystic kidney disease is one of the most common, life-threatening genetic diseases and causes multiple fluid-filled cysts to grow in the kidneys. It is a painful disease that significantly impacts quality of life. The average size of a normal kidney is a human fist and weighs about the size of a deck of cards. Polycystic kidneys can get much larger, some getting as large as a football, and weighing up to 30 pounds each. If a parent has PKD, they have a 50 percent chance of passing it to each child. There is no way to anticipate who will be impacted. Because it’s passed from generation to generation, PKD often affects many people in one family.


There are no approved treatments in the United States to stop the progression of the disease, so PKD is the fourth leading cause of kidney failure with fifty percent of PKD patients' kidneys failing by age 50. The only remedies for PKD patients once their kidneys fail are dialysis or a kidney transplant. While these options are life-saving, having a treatment that preserves healthy kidney function is the best option. Research is the path to treatments that stop or slow the growth of the cysts and keep kidneys from failing.


As your constituent, I’d like for you to hear my story.


My Polycystic Kidney Disease (PKD) story begins with a man I’ve never met. My grandfather died in 1982; 6 years before he would have walked his only daughter down the aisle; 6 years before his seventh and eighth grandchildren were born; 26 years before the love of his life; and 31 years before the possibility of a drug to slow the progression of the disease. He was diagnosed with PKD at the age of 42, on dialysis by 48 and lost his fight at 56.

The next chapter of my story is a brief lesson in statistics. The gene causing PKD is dominant, which means each child of a parent with PKD has a 50% chance of inheriting the disease. My grandparents had four children and like any good coin toss, heads came up twice. My mother and her youngest brother both inherited PKD. PKD progressed quickly for my uncle; he had a transplant from a blood relative in his 40’s. Less than ten years after his transplant, his body began to reject his new kidney and he was put on dialysis and ultimately lost his battle with PKD at the age of 57. My mother is a rare story; she recently turned 60 with no immediate signs of severe reduction in kidney function.

Back to the coin toss—perhaps instead of a statistics lesson, this chapter would be better suited as a gambling lesson. I am an only child, and with a mother who carries the PKD gene, once again came the 50% chance of inheritance. Three years ago, I scheduled my yearly physical with my primary care physician. I was 23, in the best shape of my life, perfect blood pressure, didn’t smoke, wasn’t on a single medication, had never broken a bone and heck, I hadn’t had a cavity in 15 years. If anyone that day was looking for a clean bill of health, it was this girl. But then came the words anyone with a family history of kidney disease dreads, “too much protein in your urine.”  I was barely listening as my physician rattled off numerous potential explanations and instructed me “not to jump to conclusions” and kindly reminded me that I was only 23 and PKD onset was typically later in life. I proceeded to endure multiple pricks, pokes, ultrasounds and cat scans in order to tell me something that deep down I already knew. At the age of 23 I was officially diagnosed with PKD, cysts on my kidneys already and all. The odds as they stand today are not good, studies show that I will need dialysis and eventually a transplant; it’s just a matter of when. I however am not willing to accept this, I have things I want to do in this lifetime and you only get one.


My story began with my grandfather but his mother and siblings and generations before them have fought this same battle. A pharmaceutical treatment for PKD is long overdue. For those of us living with PKD, we deserve an option other than dialysis and transplants. There is no hope for my grandfather, his story is over—but he is the beginning of my story, and for me there is hope. Hope comes in many forms; today for me hope comes in the form of research. Research is the path to treatments that stop or slow the growth of the cysts and keep kidneys from failing. Research is by no means a miracle, or promise of a cure. Research is simply hope—hope that I will be there when my children get married; to see my grandchildren born; and to grow old with the love of my life.


Last April, the Energy & Commerce Committee began working on the 21st Century Cures initiative. We applaud Chairman Upton (R-MI) and Representative DeGette (D-CO) for leading this bipartisan initiative.


Of special importance to PKD patients is TITLE I - Putting Patients First, Subtitle B - Surrogate Endpoint Qualification and Utilization. Currently, there is only one endpoint used in the development of PKD therapies - kidney failure. None of the other indicators of PKD, like the size of the kidneys or pain, are even allowed to be considered when potential therapies are being developed and tested in clinical trials. I am grateful to Rep. Cathy McMorris Rodgers (R-WA) for championing this provision and we hope that it is in the bill when it is introduced.  


I urge Congress to ensure that 21st Century Cures is a truly bipartisan effort and to continue engaging the rare disease community. I hope that you will read the  following link of the proposed legislation and when the bill is introduced, you will remember me and join as a co-sponsor.


Wouldn't we rather see the government make a path for more and better research, research that could lead to the development of treatments? Not only would lives be saved, but less people in kidney failure means less money spent treating it.


Thank you for your service and I hop you'll stand up for me and my family.


Sincerely,


Allison Vanderberg