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.

New genetic mutations discovered!!!

Hello All.

It has been a while since my last post. What can I say, it has been a very busy summer. Family birthdays, reunions, wearing multiple hats at work, all make time fly by. I'm updating this blog to share some information that may as yet hold some promise for Lori's unique case. On my links page there is now a link to a new article published in the New England Journal of Medicine called Somatic HIF2A Gain-of-Function Mutations in Paraganglioma with Polycythemia. I have read the entire article and it makes for some very scientific reading. There is a table located in the article that lists the symptoms of the 2 patients with the newly discovered mutation. I have included some of the symptoms listed, the two patients included in the study and Lori's symptoms and how they match up. It is my belief this is the mutation Dr Pacak thought Lori might have when we first went to NIH in April. Since UH hospitals have yet to provide NIH with any unstained tumor blocks for genetic testing, we may not know for sure if Lori has this mutation or not. In part of the article it mentions how the mutations were isolated. Unfortunately the only way is with genetic samples of the actual tumors since the mutation was not not found in DNA from samples of normal tissue. Thanks again UH.

	Patient 1	Patient 2	Lori
Age at onset of diagnosed condition
Polycythemia	At birth	At birth	6yr
Multiple paragangliomas	14yr	18yr	47yr
Multiple somatostatinomas	29 yr	No	No
Recurrent paragangliomas on imaging	Yes	No	yes
Metastatic tumors on imaging No No	No	No	yes
Age at onset of clinical characteristics
Abnormal redness of the body	8yr	At birth	As long as she can remember
Blue feet No	No	1yr	No
Red cheeks and lips	8yr	At birth	yes
Growth or developmental abnormalities	No	No	No
Marfanoid habitus, gothic palate, arachnodactyly	Yes	No	No
Cardiac systolic murmur, mild cardiomegaly	Yes	No	yes
Dilatation of ascending aorta	Yes	No	Unknown
Headache	14r	12yr	As long as she can remember
Anxiety attacks	No	12yr	As long as she can remember
Palpitations	14yr	No	As long as she can remember
Pertinent family history	No	No	Not Yet

UH isn't alone in dropping the ball with Lori's case, there are too many doctors to list. What I can say is that the current state of the medical profession, from costs to care provided, is definitely in need of an overhaul. When patents get processed through a doctors office like burgers through a fast food joint there is definitely something wrong with the system. I can honestly say at this point I don't know how to fix it. As for the Obamacare Law I think it sort of compares to the current state of Major League Baseball. There is no balance between the teams and MLB's version of revenue sharing” definitely is not working. Until MLB owners and players agree on a hard salary cap with revenue sharing like the NFL, baseball will remain broken. So it is with the government and health care. Until they can agree, the general public loses like the fans do in baseball, a substandard product at ourageous prices. Make no mistake, I am not advocating more government involvement in healthcare. Take Lori's case for example, she has 3 small hernias along her incisions from the most recent abdominal surgery. Included with that is a diagnosis of complex regional pain syndrome from all the nerve damage done to her abdomen over the years. One of the surgeons who did the cutting said he would not fix the hernias until Lori had her pain under control. The pain management doctor indicated she needs a pain pump surgically inserted near her spine to inject morphine into the nerves affected. A pain pump however, would prohibit Lori from getting scanned for the tumors. In addition,the small mesh used to fix hernias would only get in the way in the event Lori needs to be opened up in the future to remove the tumors. The end result is Lori has to to deal with all of it while I try and pick up the pieces, put on a happy face and pretend like nothing bothers me when I pick up the phone at work to do my job. As I am one of the thousands of customer/technical service persons you may interact with on the phone in the near future, try and remember a “normal hectic” day for you, simply may not compare to the next person you speak with on the phone, even if you have had to wait an extended period of time. Since everyone wants what you want, the “latest and greatest consumer gadget,” demand will most certainly exceed suppy as it almost always does. Most of you will have to wait, and there will be nothing the persons on the other end of the phone will be able to do about it. Ok, now that I've begun to ramble about my job, its time to wrap this up. I need my sleep. Until next time, or as Joe Tait used to say “Have a good night everybody”