Having VHL, you get used to being poked and prodded, scanned, x-rayed with contrast and without contrast. I was diagnosed 20 years ago...
I grew up knowing about VHL and the ever growing information that has been gathered over the years. Like, when my mother was diagnosed in 1962, we thought it was just an eye disease. So every year we'd get our eyes checked. The doctors at the time, said...if you don't show any signs of it by the time you are 20 yrs old, you won't get it. HA! You don't get VHL, you either have it or you don't.
So we'd get our eyes checked regularly and passed the 20 yr old mark...and believed, hey! Maybe I won't "get it". Haha...weren't we surprised...and oh by the way...it's not just an eye disease...it's a syndrome affecting many organs in the body, CNS (Central Nervous System), Adrenal Glands, Kidneys, Pancreas, Eyes, Ears, Reproductive, Lungs...what else?
In 1993, I was working for Warner Bros and we'd just gotten new insurance options. I had had my eye exam for the year, just 6 months prior and got the "all clear". As I flipped through the pages of doctors in my area, I notices that my mothers opthamologist was listed. So, I made an appointment.
That appointment changed my life forever...I met with Dr. Bradley Straatsma, one of the founders of the Jules Stein Institute at UCLA. He found it right away. I knew something was going on, he was focused on my left eye....then he wanted to take photos of my retina, I had a sinking feeling...then the parade of resident's started. One after the other, they all were looking at my eyes. I knew it, they saw it...VHL had reared it's ugly head.
After the parade, I was taken into a room that had all of the photos on the wall with lights behind them. Kinda neat to look at...they were yellowish round photos with red areas that looked kinda like lightening strikes but they were masses blood vessels. Dr. Straatsma showed me what he had seen and said I would need laser surgery.
Then appointments were made for my sister, brother, daughters and son.
I called my mother that day and gave her the news. I felt the weight of her disappointment through the phone. You plan on passing things onto your children...but not this. Not this.
After all of the eye check ups, we found that my brother, Steve also had the angiomas on his retinas. Everyone else was clear...we would later find that my daughter Shana also has VHL. It has never materialized in her eyes.
Fast Forward: Since that day in 1993, I've had 7 laser treatments and had about 10 years with no other angiomas. Then in December 2012, they found 3 new ones...I will have them lasered soon. I didn't have insurance at the time, so I had to wait. Angiomas are usually slow growing, so I'm hoping I'm ok. I have an appointment on Monday...a little concerned that through my insurance I have to go to an "in network" doctor first. My experience is, that most opthomologists haven't seen nor heard of VHL. I will be asking for a referral to Jules Stein.
So, I have insurance! Yay! I had lab work a few weeks ago and learned I am borderline diabetic...gulp, that means I probably have tumor/cysts on my pancreas. I had the 24 hour urine test (still waiting for results) and MRI's done and just got the MRI report back yesterday.
Having VHL, you expect to have manifestations of the various areas that VHL affects. It's a given. But when you see it in print...it's a different story. Up until now...I've gotten the "all clear" except for a little thing here and there since 1993.
Yesterday, this is what I received in the mail:
Radiologist recommends CT Scan of the pancreas.
Here is the Radiologists findings:
Within the pancreatic head, there is a T1 hypointense region (series11 image 34) measuring 1.2x.0.8cm. There is suggestion of mild arterial enhancement. The body and tail of the pancreas are not well visualized and may represent atrophy versus agenesis. The liver, gallbladder, spleen, and adrenal glands are unremarkable. There is a cyst within the superior pole of the left kidney measuring 7mm. A cyst with the inferior pole of the left kidney measures 4mm. A cyst within the mid to lower pole of the right kidney measures 8mm. No suspicious renal lesions are identified.
There is not lymphadenopathy within the visualized portions of the abdomen. The visualized bowel are normal in caliber. There is no focal suspicious bone marrow signal. The abdominal aorta is normal in caliber. Incidental note is made of a duplicated inferior vena cava. The left sided inferior vena cava coalesces with the right vena cava at the level of the renal veins and there is a azygous continuation of the inferior vena cava. The hepatic veins drain directly into the right atrium.
1. Suggestion of a 1.2x0.8cm mildly enhancing lesion within the head of the pancreas. However, this region is slightly limited in evaluation due to respiratory motion. A CT (pancreas protocol) is recommended for further evaluation given history of von Hippel Lindau and appearance of agenesis vers atrophy of the body and tail of the pancreas.
2. A few bilateral renal cysts measuring up to 8mm on the right and 7mm on the left. No suspicious renal lesion is identified.
3. Duplicated inferior vena cava which coalesce at the level of the renal veins and there is azygous continuation of the inferior vena cava. The hepatic veins drain directly into the right atrium.
Ok, so...these are things I expect to have with VHL...but, WHAT THE HECK is wrong with my Vena Cava????? I Googled it and it sounds scary...especially if I ever need Renal Surgery.
Calm down Suellen....hey, wait a minute!!! I've had hundreds of scans, MRI's, CT Scans and Xrays....wouldn't the Vena Cava abnormality have shown up???? This is a congenital thing, not something that JUST SHOWS UP?!?
Breathe! ...I'm going to wait for the CT Scan results before freaking out. That's what I tell my daughter and I better practice what I preach, right? Breathe...
Not going to worry about this until I'm told I have something to worry about. ...Breathe...
I'm going for a run...somehow, running makes everything alright with me. Run, Breathe....I'm good.
Someday, we will find a cure and I hope I get to witness that...Run, Breathe...I'm good.
OUR FAMILY VHL HISTORY
VHL / FAMILY
HISTORY (Highlighted = VHL Diagnosis)
"Will" Eggert Sierks (10/13/1893-5/7/1944)
diagnosis but cause of death was Adrenal Carcinoma
WILL’S BROTHER Fred M. Sierks (-2/2/ 1916)
VHL – no
diagnosis but cause of death was exhaustion due to paralysis subsequent to
syringomyelia (cyst in spinal cord), with cystitis a contributing factor
Frederick William Sierks
VHL – never diagnosed.
Deceased. Blind, High Blood Pressure and Anxiety Attacks
Roscoe Bovee (Sierks)
Diagnosed in 1962 - Retinal Angioblastomas, Renal Cell Carcinoma (deceased)
VHL – Diagnosed in 1980
– Retinal Angioblastomas, Endolymphatic Sac Tumors
VHL – Diagnosed in 1996
– Retinal Angioblastomas
Marianne Bovee (Sierks) (7/31/1939-8/2/2010)
VHL- Diagnosed in 1962 -
Retinal Angioblastomas with full retinal detachment, Pheochromacytoma (never
removed), Hemangioblastoma on the brain stem (died in surgery) (deceased)
VHL- Diagnosed in 1993 -
Retinal Angioblastomas, Scar Tissue in Lungs, 3 cysts on Kidneys, cysts on pancreas, (duplicated vena cava???)
VHL- Diagnosed in 1994 -
Tumors/cysts in Cerrabellum (multiple surgeries 1994,1995,2000,2007, 2011), BP
Shunt, cysts on Kidneys, cysts on Pancreas, lung polyps
VHL- Diagnosed in 2006 -
Pheochromacytoma (adrenalectomy 2007)
Kiedryn Dioneyse Hicks
(2/7/1978-) NO VHL
Rolando Juan Tolentino Jr
VHL – Diagnosed in 1993
– Retinal Angioblastomas
Joseph Chenkus (9/21/1981)
VHL – Diagnosed in 1993
– Pheochromacytoma (adrenalectomy
Victoria Michelle Garrison
Robin Anne Garrison