So I married a mutant

Well, I can now end my self-imposed silence. To avoid spilling the beans in such a public forum as the internet, I intentionally did not post the information found here: http://link.springer.com/article/10.1007%2Fs00109-014-1205-7#page-1 until it had been properly vetted. Dr. Pacak has been awesome. From a caregiver standpoint, I couldn’t ask for a better “mad scientist” in our corner. He has tirelessly kept us abreast of his research as it related to Lori’s unique issues. Our hope is that someone out there reads this and asks questions of their doctor if they feel something “just isn’t right”. Time and time again, we visited countless doctors who just dismissed Loris condition as “in her head” or a myriad of other reasons why she could not have a pheo and polycythemia at the same time. “…it just isn’t possible” or, “even if you do have it, it is so rare, no one has any idea how to treat you, so don’t come back and see me, because I can’t help you. (All she wanted was a hematologist to prescribe a phlebotomy)

What makes this discovery groundbreaking, is how polycythemia relates to pheos and vice versa. I won’t take the experts out of the paper and attempt to simplify it but do recommend you read it. Below is how it affects us

First, you must understand on a basic level that almost all cancer tumors crave blood and sugar. Since they are our own cells mutated with little self-regulated growth, the better the blood supply and higher levels of sugar they get, the faster and more aggressive they can grow, depending on the genetic mutation. Pheochromocytomas and parganglianomas are different from other more well-known cancers such as lung cancer. The bottom line is, pheos and paras do not respond well to the traditional cancer treatments (CVD chemo, radiation, etc.). The best course of action is the surgical removal of the tumors. With metastatic disease however, sometimes that is not possible due to the location, size, or number of tumors involved.

The best treatment plan is controlling the symptoms of the tumor burden via medication primarily; but diet and other outside factors can play an important part. For Lori, one of those outside factors had always been her getting a phlebotomy. When she wasn’t getting regular phlebotomies, her pheo symptoms increased and her medication just seemed to be less effective. We now know those are the times her tumors were growing and producing catecholamines at a faster rate. Until we were able to find a hematologist willing to prescribe a phlebotomy, managing Lori’s blood was impossible. As mentioned in previous posts, Lori’s tumors were described as “stable”. Since she has not been scanned recently (longer than 6 months), I hold out hope that is still the case. The best treatment plan for her is the management of her blood counts as a way to “control” her tumor burden. Generally speaking, the week after her phlebotomy, is when she feels the best. Pheo symptoms lessen and hypertensive events become less frequent. She has modified her diet and tried to stay away from as many known catecholamine producing foods as she can (within reason and an occasional exception).

Now that this paper has been published, It is our hope that others out there with a polycythemia diagnosis who are JAK2 negative can have an easier time getting answers and results. Since we first started this odyssey, we have met some fantastic individuals both in person and on the web via the Pheochromocytoma and Paraganglianoma Support group on Facebook. The easiest way to find the right group is to type pheo in the Facebook search bar. The first group that shows up should be us. there are other groups, but this one is the most active and has people involved around the world so no matter when you have a question, chances are someone is online and can point you in the right direction.  When we first joined, there were approximately 600 members. Today there are 1300. In a few short years, more and more people are finding out about these diseases and why they used to be called the “great mimic”. I also can not overlook the pheoparatroopers found here: http://www.pheoparatroopers.org/. One of the results of the SPHD1 mutation is to cause a pseudo-hypoxia condition that allows for tumor growth. This is known as a tumor suppressor gene. SDHx is a more common tumor suppressing gene among pheo patients. Another pair of tumor suppressing genes getting a lot of press this month are the BRCA1 and BRCA2. They are 2 of the more common hereditary mutations for breast cancer. PHD1 and PHD2 are also hereditary (that is what germ-line mutation means) and can be passed down. Since there aren’t enough months in the year for all the different cancers out there, I feel October should be known as cancer awareness month; not just breast cancer awareness month.

As much as all the cancers out there are different from each other, they all benefit from research and breakthroughs made on each other. My point to this diatribe is NIH funding must continue. Not only can we not afford to cut cancer, and other rare disease research being performed there; but we need to find ways to increase it. Future generations depend on it even if they don’t know it yet.

Please let your members of Congress know they must not cut the NIH budget.

Thanksgiving 2013

It has been almost a year since I last posted here... The biggest reason why I haven't is quite simply Time. My time this last year seems to have gone by so much faster than than the years before it.

Well, since the weather has turned cold and snowy, I have no more excuses not to make a post. This past year has been exciting in a lot of ways and exhausting in others. I got married officially to Lori at the beginning of this month. Planning that, is a credit to her and her cooking skills, since we tried to keep our expenses under 1K.. We didn't quite make it, but it was worth it. We planned it as a surprise wedding for my family because it is so hard to get all my globe trotting siblings in one place. They were already going to be in town for my cousins wedding, and we did not want to impose on their day. We also did not want my family to plan for the added stress of having 2 weddings in 2 days, so we did not tell anyone. Lori and I planned out the food, Lori cooked it all summer long, and froze it so all we had to do is re-heat it. It went off a little later than planned but all in all, it was a great day. I'm happy I married the most unique person on the planet.

We also have had some good news with our journey. Lori and I now know more about the relationship between Lori's pheochromocytoma/paraganglioma and polycythemia. I can't get specific with the science just yet, as I have been sworn to secrecy. I can say that Lori's tumors are still stable as opposed to being aggressive. In terms of treatment, there is none just yet, but with this type of cancer, you have to know the Why and the How of the symptoms/tumors before you can know the How and What of the treatment.

Most of this year has been spent in one four places; work, home, the car, and lastly, doctor offices.

The first three are pretty normal for most people, the fourth is not. Last year we put over 7500+ miles on our little Kia Rio5 just in doctor visits. This year, while we haven't totaled it up yet, has to be more. More trips to NIH, and more trips to the Cleveland Clinic means so much less time for all the other important things in life.

Lori finally got her surgical hernia and the complex regional pain syndrome taken care of so that was a relief. Both her thumbs now work as they should. Now if we could get Lori's bone pain under control so she can have a better outlook on the day to day grind of being a patient. But we will take that one day at a time just as we have everything else.

My job requires patience, sometimes extreme patience, but in context of dealing with the medical establishment and the lack of overall knowledge about pheo/para within the general population of the medical community; my job is a cakewalk. To say I have generated a mistrust and a bullshit detector for doctors in general, would be an understatement. Not all doctors fit into this, but I have a high standard that very few meet. I have generated my opinion as a result of this journey and my perception is my reality but since this was meant to be a positive post this close to Thanksgiving, I'll stop the negativity here.

I am thankful for another year with my now new bride, Lori. I'm thankful for my family (hers and mine, and the few days we were almost all together). I'm also thankful for all the new people that we have met as a result of this disease. Especially those on the Facebook group, NIH and now tonight, a local couple. My job most definitely. The three people I interact with at work the most have to put up with my “two cents worth” on a daily basis. That in and of itself is priceless to me.

I wish you all a healthy, happy, safe holiday season.

Time

Time waits for no man or woman for that matter......

Its been a long time since I have posted anything on here for many reasons. Some of which I want to address. Not being the cancer patient myself, I don't get to look death straight in the eye, thumb my nose, flip the middle finger at it, and go on about my day. I only get a front row seat to watch the show as the person closest to me gets up day after day and refuses to back down from what life has thrown her way. Lori has struggled with the prognosis that this cancer doesn't fit into any of the “nice” cancers that get the headlines and the research that develop treatment plans. Every type of cancer is different and each robs the body of life in a different way. I have come to realize it doesn't matter though, the end result of death is still the same. It comes for us all, but some see it a little quicker than others. That said, its what you do with the time you have that can sometimes make the difference. Or at least that's what popular culture tells you. It's a lot harder to put into practice from the words you tell yourself in your head and to others when they ask “how are you doing” Patience is a virtue for a reason. As I have gotten older I have come to realize my parents were right about a great many things, the preceding sentence being one of them. Yes I've heard the jokes about what we think of our parents at various ages.. I think we laugh because they are more true than we like to admit. When we are young we say to ourselves “I'm not going to do that when I get old” or “I sure hope..........”. You get the idea.

My point to all this is when we are young, we are full of hope and ideas of how things will be different when we are at whatever age we haven't reached yet. At each stage of life as our goals, hopes and dreams change, the one constant seems to be time. Either its “I can't wait till....” or “there never seems to be enough time for..........”.

The support group Lori and I are in on Facebook for pheochromocytoma/ paraganglianoma has over the last 3 months lost several people. Some have been in the group longer than Lori and I and others not so long. Lori found this group about a year ago when she was at wits end trying to understand why it is so difficult to get a straight answer out of various doctors. It gave us hope and support that we are not alone in this fight, and there are others going through the same bullshit day after day. I feel lucky, guilty and scared at the same time because so far, Lori has beaten the odds to this point. Guilty because some people aren't blessed with the same time. People younger than Lori and I with kids and families that were dead within a year of their diagnosis, even though they got the best treatments money could buy, discovered it “just in time...” Those little buggers released all those chemicals, the body goes into a hypertensive crisis and the person slips into a coma, and all the people left behind have to wait. Wait for a better day. Wait until they can see their loved one again. Wait until they don't feel guilty for the things they never got to say. Wait until the guilt goes away for not being able to do the stuff they wanted, with the person they are closest to. Various books I have read have made the point that waiting for something can be difficult and learning to deal with the time in between can be difficult. Here we are back at time and patience again... See I told you my parents were right.

I used to think I was a strong person but I have realized my parents and siblings were correct all those years ago when they told me I am stubborn. I freely admit that yes I am stubborn, but now I have learned patience. I also have a new admiration for people who have to fight this battle. This lesson that other people might just be battling something harder/ different than the daily trials and tribulations of most peoples lives is not new to me. I was first exposed to the different difficulties of others by my parents at a very young age and it has shaped who I am today, but the fight with this disease will change me in a way that other obstacles I have overcome in my past could not. The difference is I get to watch someone I love fight a battle in which my role is primarily support instead of the person doing the fighting. Now, those that know me, and who I am, may have an idea about what I'm talking about here but most likely you only know various parts of the story.... My history and how I got to be me, will be a later post.

Lori in her own words

Lori is a much better writer than me. She is always a deep thinker I have been pushing her to make her own blog. Well today she finally did it. You may not always agree with what she has to say but she will definately make you do one of the following things with everything she writes: think, laugh,cry or swear at your computer screeen.

Her page can be found in the links section “A Peek into Me" or by going to http://skeletonsinahousewithnoclosets.blogspot.com/