May Is VHL Awareness Month ... And Every Day Is Lack of Universal Healthcare Awareness Day

May is Von Hippel-Lindau (VHL) awareness month.  Most people know that Ron died from cancer.  This is true.  Ron had several different types of cancer ravaging various organs in his body.  From speaking with his medical care professionals over the past year and a half, it seems very likely that the tumors in his body had been there for years, long before I met him.  You see, Ron’s cancer is linked to a genetic disorder (syndrome, disease, condition . . . it is talked about in different ways) known as VHL.  VHL causes abnormal blood vessel and/or tumor/cyst growth in certain parts of the body.  It is the result of a mutation of a gene that would otherwise suppress tumor growth.  VHL is rare.  About one person for every 32,000 in the world has this condition.  Ron told me there were only 40 some known cases of VHL in Michigan, but I do not know if this is accurate and thus far cannot find any statistics online to verify.  At any rate, out of however many cases there are in Michigan, or even worldwide, Ron’s family had four members diagnosed with VHL. 

Typically, VHL tumors develop in the central nervous system (brain/spinal cord), retina of the eye, adrenal glands, kidneys, and pancreas.  There is no cure, or way to reverse VHL, but there are ways to manage it and prevent the symptoms/tumors from getting out of control.  Early detection and frequent monitoring are essential to locate and remove small tumors and cysts before they cause permanent damage or become malignant.  There is much research being done and I read in one place that it has been projected that a cure for VHL could develop around the year 2025 as a result of genetic studies. 

Because VHL is a rare and multi-system disorder, it is difficult to diagnose.  Ron learned he had VHL only after his father was diagnosed.  His father lost vision in one eye in 1988 (eventually both eyes) and after many months, it was discovered that he had VHL.  Then, the worst news arrived for Ron’s parents: all of their children had likelihood of also having VHL.  However, at that time, Ron’s parents were told that they did not need to get the children tested until they reached puberty.  Unfortunately, by the time puberty rolled around, Ron and his brother, Doug, had both already developed extensive tumors from the disease.  Since then, and maybe even because of them, protocols for children of VHL parents have changed and screenings can now take place earlier.  Ron’s sister, Heather, did not have tumors at the time her brothers did, but with genetic testing, it was determined that she also had VHL and would need lifelong monitoring.  She bravely wrote, as a young teen, about the experience and you can read it here.  The entire Clark family began learning as much as they could and gathering support from the Michigan chapter of the VHL Family Alliance and knowledgeable staff at U of M.

Ron and Doug each had a pheochromocytoma, which is a neuroendocrine tumor on the adrenal gland.  His mother recalls that the tumors were larger than the adrenal glands themselves and therefore, each brother had to have an adrenal gland removed.  So, in June 1997, the brothers underwent surgery together and Ron lost his right adrenal gland and Doug lost his left adrenal gland.  I can only imagine what a horribly frightening time this was for the family.  His father had already had an adrenal gland removed and his mother recalls being told each time one of these surgeries occurred that one of the males in her life (husband, two sons) could die on the operating table.  Still, Doug and Ron have both fondly recalled their recovery time at U of M together.  They were in the same room and awoke to news of Mike Tyson taking a bite out of Evander Holyfield’s ear.  When remembering this time, they gleefully referenced wheelchair races and joked about the pain of their catheters.  They were facing a terrifying disease, but they had each other and the support of their family. 

Ron recalls going back for a few more scans at U of M after the adrenalectomy.  He and his siblings spent a week each spring (usually over spring break) at U of M undergoing the extensive screening work-up that was required.  When he turned 20, he lost Medicaid and thus lost the means to be able to access the annual screening process.  When Ron and I were at U of M in December 2010 and he was being diagnosed with all the things that killed him, I learned that prior to our ER visit that night, his most recent VHL follow-up was in 2002.  So, by the time I (re)met Ron in 2009, he had gone close to a decade with no monitoring or treatment for VHL.  In my first blog post, An Anniversary, I recalled that when telling me about VHL, Ron really downplayed the severity of the whole thing.  Then, when I began working at that time to try to find a resource so he could get a scan, he wanted me to stop because he was afraid of what he might find out. 

The neuroendocrine tumor that later metastacized from Ron’s pancreas to his liver probably started as a tiny pancreatic cyst, quite common for persons with VHL.  His hospice nurse said it was likely there for many years, maybe even in his last scan, since these things can be so small and undetectable.  Hence the importance of frequent and regular scans for persons with VHL.  If Ron had undergone regular check-ups, this could have been caught much sooner, before it took on the persona of a deadly cancer.  By the time he would have gotten a scan when I first met him (if I had been able to work some magic that I obviously was not able to do), it likely would have already progressed to the point where the prognosis was terminal.

I often wonder about this.  What if I had persisted in my initial 2009 search for assistance for Ron, even after he asked me to stop?  What if I would have found some way for him to get scanned and I would have learned just a few months into our relationship that he was dying?  How would that have affected our relationship and the course of true love?  Would it or could it have had any impact on the final outcome for him? 

No one knows what would have been.  Maybe detection in 2009 would have bought Ron more time . . . a few more months or years.  However, it would have been more time living with the knowledge that he was dying.  Anyone who has lived with the knowledge of early, impending death can tell you how bittersweet each day is - a mix of gratitude to even be alive and grief that it is one day closer to the inevitable.  The closer you get toward the inevitable, the darker the days get.  This was true, even for Ron.  It also likely would have resulted in more time undergoing uncomfortable chemo treatment, which in hindsight Ron somewhat regretted because of how awful it made him feel and how it limited his enjoyment of life at a time when he did still feel good and could move around.

It doesn’t really matter what might have been, because it happened how it happened and maybe that was how it was supposed to happen.  Ron and I shared 21 months together before we learned what was taking place inside his unmonitored VHL body.  Then we shared 17 months dealing with that knowledge, celebrating and mourning a little bit everyday.  By the time we learned what was going on, our love and relationship and little life together had been solidified.  There was never any question of who would take care of him.  I was by his side until the very end.  It was what we both wanted and we never doubted that decision, even when others may have doubted it for us.

The point of this post, though, is to make people more aware of the underlying cause of Ron’s cancer.  It is time for all of us to become more aware of VHL, and other rare diseases, not just when they make a cameo appearance on a television medical drama like Grey’s Anatomy or House M.D.  Early detection and monitoring are critical in extending the life expectancy of someone with VHL.  When Ron did present at an urgent care clinic in spring 2010, alerting them to his VHL condition (which I doubt anyone knew much about) and complaining of extreme fatigue, diarrhea, weight loss, and pain in his side and shoulder area, he was given an x-ray of his shoulder (which showed nothing) and an anti-inflammatory pain medication.  Again, not that it would likely have changed the outcome because by the time he was showing symptoms, he was already very sick, but Ron’s cancer could have been detected then if the professionals he saw knew more about VHL and would have reacted differently.  All too often, our medical culture tends to treat symptoms without looking for the underlying causes. 

Plus, with Ron not having insurance (paying out of pocket for the urgent care visit and the useless x-ray and pain medication and still getting no real answers about what was happening to him), the CT scan needed to locate the tumor would have likely been outside his budget anyway.  Still, it seems negligent to me somehow.  If people are entitled to appropriate care, regardless of insurance, in the event of a life threatening emergency, shouldn’t someone who has VHL, which is always a potentially life threatening condition, be entitled to proper follow-up and thorough care regardless of insurance?  Please reread that last sentence – I believe it is important and indicative of a shift in healthcare that is much needed.

From what I have read over the past several years, people with VHL can live very normal, productive, meaningful, and even long lives . . . provided they take care of themselves with regard to their diagnosis.  Ron did not do that.  He couldn’t.  He did not have insurance.  Over the years between graduating high school and meeting me, he worked a variety of jobs (often full time) that did not offer health insurance and he attended two different out-of-state colleges.  He was not lazy.  He had every ambition to be a productive member of society.  He could not afford to privately pay for insurance, especially not with his preexisting condition.  He could not afford to simply pay out of pocket for an annual full body MRI and all the medical interpretations it would require. 

There are no easily accessible resources with which someone diagnosed with VHL, but without insurance, can access medical care.  Medicaid is available to persons with disabilities.  When I helped Ron to apply for Medicaid (three times: 2009, 2010, and 2011, when it was finally awarded), I learned that VHL itself does not count as a disability, since someone who has VHL is not necessarily disabled.  No, it was not until Ron had developed and was officially diagnosed with a metastatic neuroendocrine tumor of liver and pancreas, probable renal cell carcinoma (had large lesions on both kidneys but was not healthy enough to undergo biopsy), infarcted spleen, and malignant ascites, in addition to his underlying VHL, that he could finally qualify for state medical assistance. 

If you are like me, you are probably shaking your head and saying, ‘So let me get this right: You can’t get insurance to get the annual VHL scan until you are showing symptoms, but by the time you are showing symptoms you are probably dying.  So, basically you can’t get the scan to prevent you from dying until you are actually dying?’  It makes no sense.  When I read through Ron’s medical records, over and over, each doctor remarks about how he was “lost to follow-up since 2002” and how he described “lack of insurance as a barrier to medical care.”  Setting aside for a moment any political beliefs, Ron is one vivid example of why access to health care is essential.  It is essential to every person.  It should be a right, not a privilege.  No one should have to die because they lack financial means.  But Ron, the kindest person I have ever met, did.

If Ron had access to insurance for proper follow-up for his VHL, the tiny tumor/cyst in his pancreatic tail could have been detected and removed early.  He could have pursued his dreams and eventually found an employer who offered insurance, thus taking him off of state assisted insurance.  He would have been independent and no longer cost the state/federal government for his medical care.  The world would have one hell of a dedicated, creative, loyal employee/citizen and I would have all of the same qualities (and then some) in a living husband.  Instead, because this country does not offer universal health care, nor do we offer health care to individuals diagnosed with rare, potentially deadly diseases, the world has lost that upstanding citizen and I have lost my husband. 

And, the real kicker is, Medicaid paid for all his treatment throughout the dying process, from multiple hospital stays, to medications that cost more than $15,000 per month, to weekly outpatient procedures, to surgeries, to multiple ER and urgent care visits, to an ambulance ride, to at home hospice care.  I know that the protocol for following up on VHL is not cheap, but I have to guess that, in the long run, it would have been far cheaper for the state to cover the cost of prevention rather than cancer treatment and later hospice.  Not to mention the fact that Ron Clark would still be alive and I would not be crying my eyes out in anger and grief and disgust at such a corrupt system as I write this.  I suspect Ron had much more to offer the world and that even for all the wonder and glory we did witness in him during his 30 short years on earth, he had not even scratched the surface of what his ingenuity and talent could have accomplished. 

There, that is the soap box portion of this post.  I had always hoped Ron would allow me to do a video interview with him about the situation and post it, but he never quite felt up for it.  Initially, he hoped to do something with his story to make an impact and move our government toward solving the healthcare crisis, but in the end, he was tired and just getting through the day was all he had energy for.  I hope that his story will eventually reach the ears of someone who cares and has the power to make a difference. 

But, back to VHL.  I guess the point I really want to drive home, to anyone who has VHL or knows someone with VHL, is the importance of ongoing follow-up and treatment as recommended.  I know, if you have VHL it is scary to know you could have something going on inside your body.  I cannot even begin to imagine how truly dreadful this awareness must have been for Ron . . . especially when he just met me and I was hell-bent on getting him scanned.  Somewhere, deep inside himself, I am certain he knew what was coming and just wanted to delay that and live the dream for a little longer.  Still, if he had access to ongoing follow-up, he would be living an actual real life with me now and I would not be alone as I write this.

Not having insurance is a significant barrier.  When we were first dating in 2009 and I was trying so hard to find him insurance or some kind of resource, I felt like there was nothing.  Ron was denied for Medicaid and Adult Benefit Waiver (ABW).  The VHL support groups I located and emailed did not seem to know of any funding for medical care.  There were no clinical trials with the National Institutes of Health that he qualified to join.  I ran up against one thing after another until Ron told me to just stop trying . . . and (stupidly?) I did.  Like I said, I really do feel things worked out how they needed to in terms of where we were in our relationship when Ron did finally get diagnosed and the arrangement we had for me to provide his care.  But still, I think that if I had kept working at it in 2009, I would have eventually stumbled upon assistance, as I did in 2010.

When Ron was showing symptoms of his disease in 2010 and I frantically resumed my quest to get him care, he was again denied ABW and Medicaid, and again there was no financial support for medical testing that I could find through VHL support groups.  But, I stumbled upon a name and email address of someone helpful at U of M.  Unbeknownst to me, this person actually worked with Ron’s geneticist and they were familiar with his case.  Upon hearing how poorly he was doing (fatigued, chronic diarrhea, abdominal pain, increased heart rate, excessive weight loss), they urged me to bring him in right away.  Still, Ron and I both dragged our feet.  We did not have any means to pay for an ER visit and extensive testing.  What if it turned out to be nothing more than irritable bowel syndrome or Celiac disease (Oh, our denial.  Oh, how we wanted it to be as simple as all of that.)?  How would we pay – he was unable to work and I was paying for both our living expenses?  I relayed these concerns and was introduced to a grant at U of M that we could apply for.  So, we applied . . . and then waited . . . and waited . . . and waited . . . and waited for the application to be reviewed and approved or denied.  In the meantime, I maintained my contact with the U of M staff and eventually, even before the grant was even approved, at the urging of staff and friends, Ron and I decided he could not wait any longer and I brought him to U of M.  The rest is a very sad story, which Ron initially captured in his blog.

I am not saying all of this just to rehash the past.  It would not have mattered much, as I have said, at what point he went in during the whole time we loved each other, because the cancer had already taken hold.  The point of me saying all of this is just to emphasize that where there’s a will, there’s a way.  Perhaps I should not have given up so easily back in 2009, but maybe more useful would have been Ron working on this in the years between 2002 and 2009.  When he was ignoring his VHL out of fear of the unknown and was “lost to follow-up,” maybe there needed to be more resources and supports for him so that he would not have been quite so “lost.”  We are all responsible for our own decisions.  Ron was a young man in his early 20’s who was not entirely focused on fighting just to be able to take care of his disease – he was living life, going to school, having relationships and friendships, doing what normal people do.  But, I truly believe that if he could have afforded to do the follow-up care and if it would not have been such a struggle, he would have.  And, I truly believe that he or I could have stumbled upon this grant (which he didn’t end up needing because Medicaid retroacted) or something similar sooner if only there had been more persistence.  And this is what I want to have people remember . . . not to give up, no matter how frustrating the process is or how scary the outcome may be, because the sooner you know, the sooner it can be dealt with. 

Blogging and social networking have been great ways for Ron and I to receive support, advocacy, and information.  If you find yourself in a medical crisis like ours, ask for help through these channels and receive it.  Maybe someone out there knows of a resource you can use.  I bet if Ron and I had put out the call for resources sooner and more publicly, someone would have known about and told us of the grant at U of M.  Instead, we fought the battle quietly and on our own, not wanting to worry anyone.  Being quiet only delayed the diagnosis we needed to at least get him more comfortable and extend his life a little longer than what it likely would have been.

Still, all of this busy work in the face of life threatening illness is difficult.  And it should not have to take someone exhibiting symptoms of disease process and death to get assistance.  This is why we need health care for everyone.  This is why there also needs to exist resources for people who currently do not have health care insurance, especially for people who know they have a condition that requires monitoring and/or for people who are exhibiting significant symptoms.  I wish there were something I could do to help establish such a resource for persons with VHL.  Right now, the money being donated seems to be centered on funding research . . . which is great, except that it was too late to help Ron.  Resources to help those without insurance access medical testing and treatment would have gone a lot further for him.  I argue that there needs to be both, research and financial assistance for medical care, and that all of it needs to be more visible and easily accessible to persons in need.

Ron departed in May.  May is VHL awareness month.  Please take a moment to be aware of this rare disorder and how preventable Ron’s death truly was, if only he had access to proper medical follow-up.  That’s all I am asking. 

Please also send loving thoughts and support to his family, as they continue to be effected by VHL.  I know, more than anything, that Ron wanted to emphasize for his siblings the dire importance of getting their annual scans to prevent anything happening to them like what happened to him.  So, Doug and Heather, I am passing along his message of Ron’s love and concern to you . . . and if you ever run up against barriers, I am a pretty good fighter and will try to take them on with you.  

Remembering Ron Clark means remembering VHL and remembering the need for everyone to have access to proper healthcare.