Chardonnay, a pen & the FDA

The whole idea to start a blog came from a recent email I received from the Polycystic Kidney Disease Foundation. Let me back up for a second and start by saying for those of you who don't already know, I was recently diagnosed with a chronic kidney disease. For the rest of my life, this will be my journey, living with PKD. Long story short-- statistics say that I have a 50% chance of kidney failure by age 60. For those of you who know me, you know that I am unwilling to accept ordinary circumstances and am at my best when faced with a challenge. Here I am (after the initial self pity and doubt wore off) ready to face this disease-- challenge accepted.

 The email I recently received from the PKD Foundation was regarding a new drug application for tolvaptan, a potential (and the first) treatment for PKD. On Aug 5, a FDA Advisory Committee will hold a meeting to discuss this drug and ultimately make a decision on its approval. The committee is accepting personal testimonies as part of their consideration and the email I received urged people to share their story. This drug, for this disease, would be life changing. I would be the first generation of people with this disease to have an option other than eventual dialysis or transplant. 

Below is my letter to the FDA, writing this letter inspired this blog. At the moment, this is just my life-- I plan to share the good, the fun, the bad and everything in between. I want to record doctor's visits, pinterest projects, research and more. While writing this letter I enjoyed a glass (or two) of a delicious Chardonnay, which I plan to do again, every time I write this blog. Don't feel left out-- I promise to share "what's in my glass" every time I write ;)

 My letter to the FDA....

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 is now running on dialysis. My mother is a rare story; she is in her late 50’s 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. Last summer 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 a drug, tolvaptan, a potential treatment for PKD. Tolvaptan is by no means a miracle drug, or promise of a cure. Tolvaptan 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.

Sincerely,
Chardonnay 

What's in my glass...

Fancy Pants Chardonnay-- a perfectly fitting name for a Chardonnay I enjoy, and for roughly $9 a bottle, you really can't go wrong.