My name is Beth and I would like to introduce you to my family and share with you our journey with Primary Hyperoxaluria. My hopes are to help you better understand why your support to the OHF is so valuable.
My brothers Steve and Eric and I all have Primary Hyperoxaluria Type 1 (PH1). Steve passed away at age 49 because of the disease, Eric had a liver/kidney transplant in 2006 and because of research done by doctors with OHF, I live a healthy life. As I was thinking about how to tell the story of my family and PHI, the future, and hope, and given that this is the holiday season, I was drawn to the story of A Christmas Carol, that famous tale of Ebenezer Scrooge and the ghosts of Christmas Past, Present, and Future.
When it comes to PHI, some of my family’s story is akin to the Ghost of Christmas past; it is a story we cannot change, but it informs the future. Much like Ebenezer was able to change the future after visits with the famous three ghosts, the OHF’s research represents to me, a way to change the future for all families who struggle with PHI.
Now, in saying this, I want to clear up any impression that because I am talking about the Christmas Carol, that somehow my family was like Ebenezer Scrooge before his ghostly visits. The truth is far different. I am one of eight children. My parents Frank and Fran Harrison raised us in an old farmhouse on a street aptly named “Pleasant Street” in Kennebunk, Maine. The environment in my childhood home can only be described as “happy chaos.” Not only did my parents provide a loving home for all eight of their children, but they always generously opened it up to scores of neighborhood kids, elderly relatives and friends from school. My mother made a meal for ten people every night, and it was understood that there was always a place at our big kitchen table for anyone who wanted, or dared, join the chaos. Family parties were legendary.
My father, a retired lieutenant-colonel in the Marine Corps, raised us to be a team – we were expected to look after each other. Family loyalty and commitment was considered part of our DNA.
As children, PHI was a lurking presence, but we had no idea what it was. It presented itself in the form of chronic kidney stone attacks. Eric and I experienced multiple kidney stones as kids and were sent to the hospital on many occasions. They became almost commonplace. One time, I started passing a stone the morning of my sister Anne’s wedding. The wedding proceeded as planned, the family pediatrician was called to Pleasant Street to give me a painkiller that allowed me to put on my bridesmaid’s dress and make it to the reception.
Passing a kidney stone is a very painful experience. When I get one, it is so excruciating that at first I am blinded by the pain. I can’t focus on anything but trying to get out of my own skin. Through unhappy experience, I have learned to collect myself and breathe through it, but it is very very difficult. This may sound strange, but by the time I reached adulthood, I stopped seeking medical help unless a kidney stone attack was unusually serious. The common treatment in the Seventies and Eighties was to give me high levels of pain killers like morphine. I hated how that made me feel. So, when I grew up and was making medical choices for myself, I chose to “ride it out” like one would a passing storm. Eric had a similar experience, although he had many more stones than me.
This was our family’s norm until the late Nineties, when Steve, a smart and strong commercial fisherman in Maine, had a heart attack and lost all kidney function. At the time, we thought the heart attack caused the kidney failure, when in fact, it was the other way around. His kidneys failed 2 because he was in the end stage of oxalosis. Over time, he kept getting sicker and nobody understood why until one doctor took a special interest in Steve’s case and discovered he had PHI. Unfortunately, by the time it was discovered, Steve was too sick to be a candidate for a transplant and he died at age 49 on December 3, 2003, about nine months after they diagnosed him with PHI.
Remarkably, he was strong and positive until the end. He was very sick and in a lot of pain as this awful disease, as he termed it, was turning his veins to stone. I remember that the last Christmas gift I gave him was a pair of runner’s gloves that were lightweight, but warm because even wearing regular gloves was too painful. I continue to be amazed by his grace and courage during the last months of his life. He once told my sister that he was ok with his diagnosis because, as the eldest brother, it was his job to look after the younger kids. He believed that it was likely that others in the family had the disease and that because of his experience, we would get help and be safe.
He was right. Although Eric eventually also lost kidney function, he was able to get a life-saving kidney/liver transplant at Mass General in July 2006. I was able to start treatment with large doses of B6 (and some other drugs), follow a special diet, and remain healthy. Simply put, I owe every moment of my life to my brother and I think of him every day. I am able to watch my three children grow into adulthood because of him.
I am also forever indebted to all the folks at OHF who have committed years of time and energy developing therapies and resources for PH patients. I remember the day Steve first told me about PH. He was at my house for a St. Patrick’s Day party. He told me to go online, get information, and bring it to my doctor because he was certain I had the disease. I was stunned and scared – my brother was dying and my children were young – one was still in diapers. My doctors, although kind and helpful, didn’t know much about the disease. After Eric went into renal failure, I emailed the OHF. I still remember their kind and comforting response. It was like a beacon calling me safely back to shore.
So, in the Christmas present we are a family still united in our love for our brother Steve and tremendously grateful to those at OHF who worked for so many years bringing awareness and resources to study this rare and deadly disease. As we enter our fifties, Eric and I cherish every day we have with our family. And yes, our family still has large, noisy parties on Pleasant Street, and the family table is still open to anyone who wants to join the fun.
As for the Christmases yet to come, I believe that like Ebenezer Scrooge, we are not destined to suffer or be beaten by PH. We can change the future. The therapy that has saved my life does not work for all PH patients. Although organ transplants are an option, it is an expensive one that is fraught with uncertainty and incredible risk. That is why I am so thrilled and grateful that through research funded by the OHF they are committed and able to study real cures that attack this terrible disease at the genetic level.
There is a wonderful line from a song by U2 that says “of science and the human heart there is no limit. There is no failure here sweetheart, just when you quit.” The lesson of the Christmas Carol is that no matter our past, with a little heart we change our future. The heart of the folks I have met through OHF combined with your financial support, will allow research and the rapidly developing incredible science to change the future.
PH doesn’t stand a chance.