VHL REARING IT'S UGLY HEAD...

Rolly and Liz day before wedding. 8/9/2014

I always had it in the back of my head...does Rolly have VHL?  No!  He didn't have any of the symptoms...well, maybe the sweating?  But he didn't have any pain, no dizziness, no significant weight loss, no head aches, no nausea, no high blood pressure...  My mom had it, her brother had it, I have it, my brother has it, my daughter and grandson have it, my nephew has it, my cousins have it. 

He found out he had VHL after a DNA test...after the urging of Liz.  They are expecting a baby boy in January and she wanted to know, for sure.

Rolly called me and said Mom...I knew it in my gut, I kept up the chatter, How are you? How is Liz?...he said "MOM".  I have it.

Silence...deep breath, don't cry.  It can't be too bad, we caught it early, didn't we?  Ok, Ok, Ok don't panic, call and make appointments, for Referrals for Labs, Blood Work, Urine tests, MRI's, CT Scans, Ultra Sounds, XRays and Eye Appointments.

First he had a very small Angioma on his Retina.  Zap it!  Gone.  Next!!!   Urine test....blood in the urine.  Arghhhhh.  Can you see it? No...they saw it under a microscope...ok, then maybe we caught it early.  Metanephine levels are high...that and the sweating, I know he has a Pheo.   Ok, Dee had a Pheo...we can do this.  They will give him Alpha Blockers to block the adrenalin for a few weeks before they can do surgery to remove it. 

A Pheo (Pheochromocytoma is a rare tumor usually on the adrenal gland which causes high blood pressure, heart attack and stroke).  You DO NOT want to go into any type of surgery with a pheo.  We lost our mom this way.  Ok, we can do this!!!  Calm down, breath.  Many conversations with my son...we can do this.

We know about VHL, we've watched our loved ones deal with VHL, there was always a possibility that you could have VHL, we can do this and we'll stay on top of it as we deal with each thing at a time.  Don't worry yet...we'll worry when we have something to worry about.

Why didn't I make him go to the doctors sooner.  Why wasn't he checked years ago.  I was diagnosed in 1993.  I didn't have any symptoms.  Our insurance had changed and the doctor that diagnosed my mom was now in our plan...I went to see him.  He found it immediately.  So I think we just need to check the eyes.  Everyone was checked and they found it in my brother.  Roland had had many physicals for sports, he had his eyes checked, no one mentioned high blood pressure or anything unusual.  The things he did have could happen to anyone.  I think back and wish I'd just had his DNA checked (this is the only sure way of knowing).  Shana was diagnosed in 1994, she had bad headaches and we found the tumors.  We've dealt with each one as it came.

Ok...well now I'm F#$king Worried!!!!! 
Thursday, Liz asks me to come and talk to Rolly...he's nervous, he's scared...I can't let him freak out.  He knows about the pheos...but I'm not telling him what we just found out.  We will wait till we see Dr. Yeh (a specialist) so that any questions he has will be answered right then.  This so sucks.

I drive to Santa Clarita to talk to my son.  At that time, all I know about is the Pheos.  We talk about what will happen, he tells me he's scared, he doesn't want it to be cancer, he doesn't want to die. Wait a minute, we don't know what  you have, they haven't said anything yet.  If it were an emergency, you would have heard by now.  We talk about what they are looking for and the good thing is, it looks like we caught things early and we'll stay on top of it all from now on. 

I've told him about the MRI's and the CT Scans and the Laser Surgery and everything has gone exactly as I said it would. 

We get back from our walk and talk and Liz has a look, I ask her what?  She said she sent me an email and it isn't good.  Rolly is back in the room and we get ready to go out to eat.  I'm nervous.

We have a nice dinner, I look at my son's face, I see how excited he is about his new life with Liz and the baby.  He's so young...he's so happy.  He is so scared.

I get home and rush to the computer to find this:

IMPRESSION:

History of von Hippel-Lindau syndrome with the following findings:


1. Bilateral enhancing solid renal masses, concerning for renal cell carcinoma, with additional bilateral cystic lesions.


2. Bilateral heterogeneously enhancing adrenal masses, the largest of which measures 7.6 cm on the right and 3.4 cm on the left, concerning for pheochromocytomas. Two additional left suprarenal masses identified, possibly adrenal or extra-adrenal in
origin and may represent either pheochromocytomas or paragangliomas.




3. Heterogeneously enhancing 3.7 cm pancreatic head mass, possibly representing a nonfunctional neuroendocrine tumor.


4. No evidence of metastatic intra-abdominal disease.


5. Recommend dedicated brain and thoracic/lumbar spine MRI to evaluate for hemangioblastomas and/or metastatic disease.




I'm frightened because they don't mention the size of the Kidney Tumors or how many.  The rule of thumb is they remove them when they reach 3cm before they metastasize.  That scares me so much.  VHL patients are predisposed to Renal Cell Carcinoma (kidney cancer).  We know we will have cysts and tumors throughout our lives and we manage them knowing that the kidneys can only tolerate so many surgeries.

The Pheo's are large and on both Adrenal Glands...we try and save as much of the adrenal gland as possible...synthetic hormones wreak havoc on the body. 

Pancreas...I don't know what they are talking about: Heterogeneously enhancing 3.7 cm pancreatic head mass, possibly representing a nonfunctional neuroendocrine tumor.

I cry.  I scream. I pray. I ask my friends to give me strength and hope.  I stayed in bed for a whole day.

I feel better today...still worried and scared but ready to hear what the doctor says.  Dr. Yeh is head of Endochronology at UCLA.  He's done surgery on several of my family members.  He has Rolly's scans and wants to see him right away.  I'm confident with whatever Dr. Yeh's plan is.

I have to be strong for my son.

Thinking positive thoughts, hoping, praying...God please send a healing to my children...give it all to me.  Please let them live a long healthy, happy lives.  Please.

Roland and Liz