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.
