Monday, August 23, 2010

A Day at Sea

The thought of cremation made me cringe.  ...all the thoughts that go with it, who picks up the body, where do they take it, what happens next?

I have to say all my questions, concerns and worries were answered by The Omega Society.  They were wonderful to work with, they answered all my dumb questions and helped make the arrangements...Every step was covered and nothing was left to question.

We decided on cremation that day, in the hospital...moments after we were told my mother had passed away.  OMG!  My mind is still having trouble believing she is gone...but to talk about Funerals, Arrangements or Cremation!?  My Aunt Val called my Aunt Char (her husband was my mom's brother - he passed away from VHL too). and asked her about Uncle Bill's Ceremony.  His ashes were scattered at sea.  I wanted my mother to be with her brother.  She loved the ocean.

I'm not sure what we'd have done without my Aunt Val.  I wouldn't have known which steps to take or when.  She took our hand and led us through.  My youngest daughter made all the calls the next day and we met at the hospital to sign the final paperwork.  We visited the church...a church that my daughter's belonged to and who had agreed to do the service for free.

We cried as we thanked them. Abundant Living Family Church ~ I can not thank them enough. They were ever so patient as we gathered in their lobby and went on and on about how we would like the service to go. They explained the service and we decided on a slideshow....again, I have to remind you, that they were very patient. The assistant pastor Karen had another meeting to go to...but she held our hands and explained what would happen at the memorial. Pastor Coffey came and we held hands and prayed.

The Omega Society picked up our mother, cremated her, and arranged for the yacht "White Light" to pick up her cremains to be scattered sea.



On Saturday, (a beautiful, sunny day) August 21, 2010 at about 12:30pm...we scattered my mother's ashes at sea, off the coast of Newport Beach, in the bay.

The Captain read a poem and gave us each a single Red Rose. 


My niece, Tori helped the Captain gently open the box, and let the wind take her...take her to destinations unknown.  We tossed roses and lei's and dried flowers.  We cried...as we said our good-byes.


One of the lei's moved on top of the water and created a heart shape...I know my mother was finally free.

After circling several times in a Circle of Tribute...we headed back to the harbor.

It was a moving way to say good-bye...


A Phone Call Away

A funny thing happens when someone passes away...  I don't think your brain really comprehends the finality of it all.

Shortly after the Memorial Service...I picked up the phone to tell my mom that I had seen her two half sisters.  I dialed her number before realizing...

I spoke to a friend about this and she told me that she wrote a blog to her mom...she said it helped.  Maybe this blog will help our family too.

THE MEMORIAL SERVICE

My mom didn't belong to any particular church, but my daughters do.  They allowed us to have her service there.

We enlarged a photo of my mother with my little sister.  It was one of the nicer photos of my mom.  You see, it was hard to get a great shot, as she didn't always look at the camera.

The church printed programs...I added an insert with a collage of photos of my mom.  She was so beautiful.  The other side of the insert was a family tree.  One of my younger cousins went around the room, matching faces to photos.

There were a few photos, flowers, a guest book...I wasn't sure how many people would show up.  My mother's friends were older, some were blind also...we didn't know if they would be able to attend.

My mother's sister and brother were there.  Including her half sisters.  Her sister-in-law, Her children, grand children, great grand children, an aunt, cousin, neices and nephews and friends.

The pastors did a lovely job, speaking about a woman they'd never met.  My Aunts and my Uncle got up and said a few words...shared stories that made us smile.

I had written a few words and wanted to speak...but was so afraid that I wouldn't get the words out.  My husband said, he would finish for me...if that happened.


WHAT I SAID AT THE MEMORIAL ~

Hello, I am Suellen, Marianne’s oldest daughter. Thank you all for coming, it means a lot to my family.


When I first set out to write a few words about my mother, I thought: How do I sum up her life with just a few words. I’m finding this very difficult, as words are inadequate…but, I will try my best to put into words, who my mother was.

I’d like you take a moment and close your eyes. Imagine a world of darkness…imagine relying on your other senses: hearing, taste, touch, smell. Would you be frightened to walk out into the world? Cook? How about just walking around your home? Now, take a breath and open your eyes.

This was my mother’s world. Being blind wasn’t all that bad, my mother used to say. She’d tell us that her other senses had magnified. She’d have us close our eyes and navigate the room, or listen to the things most people never hear.

My mother lost her sight at 25 years old and she had three small kids. I remember my father taking me out onto the front porch, I was 5 years old. He said: Susie, your mom is losing her sight, she won’t be able to see, you have to be a big girl now, she is going to need our help. …and then he said OK, get ready Mom is driving you to school. What??? Imagine my confusion. So doing as I was told, I hopped into the car, Mom is in the drivers seat, I’m standing in the back, straddling that hump in the floorboard (we didn’t have seatbelt laws back then) my hands holding onto the back of the front seat as we back out of the drive way, she drives down the street, turns the corner…hits the curb and I about fainted. I didn’t know Mom had one good eye left. Unfortunately her depth perception was a little off. She didn’t drive very long after that.

When I turned 25 and had three kids of my own…I imagined what it must have been like raising three children. Not being able to see what they were doing or getting in to. It’s a frightening thought. You know how kids can be: driving off of the roof on your bike or jumping off with an umbrella, putting pennies in the light socket, breaking a wrist while roller skating, and cutting our own hair. Thankfully, Aunt Val fixed many a haircut gone wrong.

How about the time Steve and I, along with some neighbor kids decided to swing on the rope of the flag pole at Pomona Girls Catholic School. Yes, it was a lot of fun. We’d get on the fence, put our foot in the loop and swing by the classroom windows so that we could peer in…one day, the nuns, about 10 of them came running out two side doors and tried to corral us. We took off and jumped the fence and ran all the way home. We never looked back… We got home to find mom standing on the front porch, one hand on her hip, the other holding a cigarette, tapping her toe. We knew we were in trouble. But what we didn’t know was, that Valerie Pfleger hadn’t made it over the fence and she gave us up for a lollipop. Yes, that really happened.

My mother had a tough life but you’d have never known it…she made a lot of lemonade. She lost her sight and they told her that she had to learn Braille…so she learned Braille. She had to learn to cook again, so she did. She learned to use a cane and later got a guide dog, she took city buses on her own when she went to back to school. Imagine finding the bus stop, getting on the right bus, getting off at the right bus stop and navigating a college campus…she did.

Her fingers where like 10 tiny eyes. She had bionic ears. She knew who we were by our footfalls. When we were younger we’d try to sneak a couple of extra cookies…she’s say “Suellen”? I asked her how she knew it was me? Never mind “eyes in the back of her head” our mother had radar. We did what kids do…we waved our hands in front of her face and when we were in trouble we’d stick out our tongues…she knew. …and we’d “get it”.

She cooked many Thanksgiving and Christmas dinners. Those were times when we all gathered together in my mother’s tiny home and just be together. She loved listening to the kids open their gifts and squeal with delight. She’d sit in her chair and just listen to all the goings ons. Imagine a house full of people and everyone talking at once. It could get confusing for her at times. I liked to sit by her and describe what was going on. I’d do that while we watched TV too. My husband tells me to shhhh at the movies because I still do this. We had wonderful times.

My mother loved her grandchildren, you were her treasures, she loved her great grandchildren, you were the jewels in her treasure box. You were all the light of her life. She loved us kids too but when the grand kids and great grand kids came along…well, you know how that goes.

Shana, Neysi, Adam, Tori, Rolly, Tiana, Davonte, Tyler, Jalen and Kennedy…I’d like to read a poem for you:

READ POEM (See Below)

Grandma loved you all very very much.

Saturday, July 31st was our mom’s 71st birthday. She was surrounded by her children, grand children and great grand children. It was a good day. I think she had a good day.

My mother was our rock, the glue of our family. She handled adversity with dignity and grace. She always had a shoulder to lean on, for anyone who might need one, she always had the right words to say. She never said a bad word about anyone, you never heard her complained. She was not only kind and beautiful, she was a wonderful mother, grandmother and great grand mother…she was my hero, and we will all miss her dearly.

I love you mom.

I got through my speech...with a few tears and sniffles.  I think I made my mother proud.

My niece got up and said a few words...I was so proud of her. 

The pastor said he was moved and asked that he be allowed to call her Mom.  He said wonderful things that will give us peace...he prayed with us and then hugged us as we left the chapel.

It was a nice service.

We gathered later at my daughters home.  We shared memories with family and friends...we ate a meal that reminded us of when we were younger.

All of us being together would have made mom happy.  It was a beautiful day.


 CLOSE YOUR EYES - Poem
 
Grandma can’t be with you today

But close your eyes and think;

About all the wonderful memories you had,

And how she made you giggle when she’d wink.



She’ll be with you in the bedroom

Sitting quietly on your bed;

Just close your eyes and think of grandma,

Relive the sweet memories in your head.



She’ll be that star in the darkness,

Shining steady through and through;

You only have to watch it glow

To know She’s thinking of you.



She’ll be the music that you listen to,

She’ll be there in every song;

She’ll laugh with you and sing with you,

And comfort you when your day’s gone wrong.



She’ll be the wind that ruffles your hair,

She’ll be that warm embrace;

She’ll be the hand on your shoulder,

She’ll be the tender touch on your face.



She’ll be the moon as it dances

At night when everything is still;

for she has always loved you

and know she always will.



Though you may not always see her

As moments pass and nights turn into days;

Just close your eyes and think of her

She is never far away.


...and when I got home that evening.  I wanted to call mom and tell her all about the wonderful day we had.

I pick up the phone, thinking I'll dial and at least hear her voice on the answering machine.  I quietly put the phone back down.

I used to call my mom and we'd talk for hours...we'd do crossword puzzled over the phone or just gab.  ...I long for her sweet voice.

While my heart aches...and while I miss my mother, I know I must be strong for my children, her grand children and her great grand children.

VHL..."IT" lurks there, silently...waiting to rear it's ugly head.  Damed VHL!

My Daughter (in her words)

Shana wrote:


Grandma was our superwoman. She had three kids, five grandkids, and 5 great grandkids, and she dealt with her ownVHL stuff. And finding out about the ones that had VHL, upset her greatly. She helped me a lot .
 
She would talk to me when I was depressed, about my kids and worried about their health. She went through a lot of the same stuff I did. She knew the right thing to say.
 
People say they understand but, VHL comes with a lot of stuff. I cried when I found out my son has VHL. You don't want to see your family go through this.
 
I have had people tell me to get over it. How can I ? They remove tumors from my brain. Then I'm going to the drs for myself and my son. I understand how my grandma must have felt. I look fine to you. But I have "IT".  "IT" hurts, "IT" bothers me, "IT" scares me. And knowing my son has "IT".  "IT" gets us in all different ways.

Sunday, August 22, 2010

VHL Family Alliance

VHL Family Alliance
2001 Beacon St, Suite 208
Boston, MA 02135-7787 USA

Tel: +1 800 767-4845
http://www.vhl.org/

ABOUT THE VHL FAMILY ALLIANCE



The VHL Family Alliance provides information for families and physicians about this disorder, and local self-help support groups for families affected with VHL. Local family support chapters exist in regions of the U.S. Local chapter meetings are scheduled periodically. International VHL Support Organizations are established on six continents.


We are strong because of our many volunteers, mostly families living with VHL, health professionals, and friends. We are in touch with more than 14,500 affected people in 102 countries, with highest growth currently in Spanish-speaking countries.


Through the generosity of our members and friends, and a number of special grants, we have been able to provide a number of key services in North America, Germany and France, and to a lesser degree in a number of other countries. We do not receive any state or federal funding. No one source can do the entire job. It takes each person, giving what they can, contributing ideas and effort as well as funding, to make it all happen.


Volunteers answer the telephone hotline in three languages in North America, and in local languages in a number of other countries. Meet the North American hotline team.


Our Online services have grown beyond just the website. They include online discussion groups in seven languages, moderated by a group of volunteers who make sure that people get correct information and timely responses. We are grateful to eDoxs for spam and virus protection for all our online volunteers, and to Dr.Backup for protection of our office documents.


Our Handbook, completely updated in 2005, was first published 1993, revised 1997 and 1999.


Clinical Care Centers cooperate with institutions in 9 countries.


The VHL Tissue Bank, in cooperation with NDRI (ndriresource.org). Tissue banks also exist with Dr. Richard in Paris, France, and with Dr. Maher in Birmingham, England.




There are chapters in the geographic regions of the United States, and in twelve other countries. There are contact people in additional areas where there is not yet any formal organization. Refer to the list of U.S. Chapters & International Affiliates, or call or write to a contact person near you.




We have a Speakers' Bureau, and are frequently represented at regional, national, and international meetings on genetics, rare disease, ethics and research, and various medical topics.

We sponsor regional Patient/Provider Conferences, where the families share their experiences, and a biennial Medical Symposium where the health care professionals and researchers share their expertise, and we all learn. The 2010 Symposium will be held in Rio de Janeiro, October 23-24, 2010


Your memberships and Donations are always gratefully received.






Donations for Research and Education


Available Publications, Books, and Shirts


Because we work hard to keep our overhead expenses low, we are able to apply nearly all of your money directly to services and research grants. Our Annual Reports are available:


Annual reports and IRS 990's for 2009 and prior years


Most importantly, we — everyone in the VHL Family Alliance — are active members in a symbiotic partnership among families, friends, health professionals and researchers and are making progress in understanding how VHL works, and what tactics might be helpful in moderating the course of the disease. It's only a start, but it's a great deal more than we've ever had before. With your help, we will advance farther in the next year.


We are delighted to welcome you to the VHLFA Web Service, and hope that you will find whatever you need here. If not, please send us questions to info@vhl.org


— VHL Family Alliance Board of Directors and Medical Advisory Board.

Pheo named Phil

In 2007, we found out that my grandson (age 13) had a Pheo. He had cut his knee at school and my daughter took him to the ER for stitches when the doctor noticed his blood pressure. It was way too high. 180/110...it should have been 100/60.



The ER doctor told my daughter to take him to see the pediatrician. Never saying this is serious or critical. So she made an appointment and didnt get a day for about 2-3 weeks. As soon as they saw his blood pressure they were calling local hospitals to see if they would take him. The closer ones wouldn't...they sent him to CHOC (Children's Hospital of Orange County).


I went with them to the hospital. I told anyone who would listen that this may be a Pheo as he has VHL. No one would listen. They had to run tests etc. Pheo's are rare, I'm guessing they didn't think it was a Pheo. After 6 hours of tests and waiting for the results...Guess What? It's a Pheo.

My grandson was nervous.  None of us knew what to expect.  I went to the VHL Family Alliance boards and asked for help.  I was given amazing advice and so thankful for the words and support they gave me...and the advice.

I was able to ask the doctors all the right questions.

They had to remove one of my grandson's adrenal glands.  Adrenalectomy is what it is called.  They took pictures, the tumor was about the size of a golf ball...we named it Phil the Pheo.

Pheochromocytoma
VHL in the Adrenal Glands



The adrenal glands are approximately 3 x 2 x 2 cm (1 inch long) perched on top of each of the kidneys. (See Figure 8.) VHL may be associated with a kind of tumor of the adrenal glands called a pheochromocytoma, (“pheo”). These tumors occur more frequently in some families than in others. In families that have adrenal involvement, they are quite common. They are rarely malignant among people with VHL (3%). Detected early, they are not difficult to deal with, but they are potentially lethal if not treated because of the damage they can cause to the heart and blood vessels and the potential for dangerously high blood pressure occurring during stresses such as surgery, accidents, or childbirth.

 
Pheos produce so-called “stress hormones” (noradrenaline and adrenaline) that your body uses to gain speed and strength in an emergency. The pheo secretes excessive amounts of these stress hormones into the bloodstream. The primary symptom is high or variable blood pressure, especially spiking blood pressure, that puts strain on your heart and vascular system and can cause heart attack or stroke. Patients may notice headache, increased cold perspiration, irregular or rapid heartbeat, or what feels like a panic attack, fear, anxiety or sometimes rage.


New research indicates that adrenal tumors are as much as four times more common among people with VHL than previously thought, and that traditional blood and urine tests alone are inadequate to find most pheos. It is recommended that all people with VHL be screened for pheos. Usually an initial test is done with blood and urine tests, and if additional information is required, or if there are symptoms of pheo but the blood and urine tests are negative, imaging tests or PET scanning may be used. It is particularly important to be checked for a pheo prior to any surgery, pregnancy, or childbirth. If a pheo is present, complications may be avoided by blocking off the effects of stress hormones with drugs, beginning about seven days before the procedure.


The accuracy of the urine and blood tests for pheochromocytoma activity will be determined in large part by your own cooperation in preparing for the test. Even if no instructions are provided, you should avoid smoking, alcohol, and caffeine for at least four hours before the test. Be sure to tell your doctor and the technician if you are taking any anti-depressant medication. You might want to prepare a list of all the medications you are taking, and discuss this list with the doctor before the test. Where other instructions are given, they may differ from center to center, sometimes due to different methods of analysis. Follow any instructions carefully to avoid a false reading.


If these chemical tests indicate the presence of a pheo, but it cannot easily be located on CT or MRI, an MIBG or PET scan may be recommended. These tests help to localize, or locate, a pheo, even if it is outside the adrenal gland. When they are outside, they are sometimes called paragangliomas. They may occur anywhere on the sympathetic nervous system, anywhere along a line drawn from your groin to your ear lobe. Multiple tests may be needed to find them.


If surgery is required, the standard of care these days is partial adrenalectomy. Studies have shown that keeping even a small amount of the cortex of the adrenal gland will make it much easier for you to manage after surgery. Even if you still have another healthy gland, remember that there may be another pheo in the future that could put that second gland at risk, so your goal should be to keep a portion of each gland working for you.



I am not a doctor or an expert by any means.  Please visit VHL Family Alliance website for more information. www.VHL.org







Mom

My mother had been blind since 1964.  She learned braille and learned to cook again.  She took classes at the local college and love to read.  She would read books on tape.  She was always open for a crossword puzzle.

We'd always talk about the books she had read and I'd have to read it because she described them so wonderfully.  She would be up at all hours because she was always getting her days and nights mixed up.  So Shana, would call and they'd stay up late talking.  My mother and Shana shared a special bond.

My mother got Pneumonia in 2008 and was in the hospital for 3 weeks.  I asked her, since we were at the hospital already, if she wanted to get scanned.  She said: I've lived this long without knowing, I'd rather not know. So we didn't have her scanned.  She knew she had a Pheo but, her brother had his removed and "All Hell Broke Lose" is what she said.  So she didn't have hers removed...she was pretty good at calming herself down when she had panic attacks or heart palputations.

Upon returning home she needed physical therapy...her legs weren't working quite right, maybe from being in bed so long.  She did PT for 4-6 weeks and things started to get back to normal.

She got better...but then she started to fall.  We thought because she hadn't regained all her strength back.  She said she didn't know what happened, just that her legs gave out from beneath her.  She wasn't in pain, not dizzy...

She fell a couple more times so, we took her back to the doctor and they said she needed more physical therapy...my mom didn't want to do it.

She need a wheel chair to leave the house.  She seemed ok for a while.

Earlier this year, she caught another cold.  And then her memory started to fade.  The doctor said it was early dementia.  Within weeks, she started to deteriorate. 

Her 71st birthday was on July 31, 2010.  All her children, grand children and great grand children were there.  We had bbq and cupcakes.  My mom didn't feel like eating.  She had trouble opening her gifts and she didn't talk much.  I felt like she could understand but couldn't vocalize her thoughts.  We thought maybe she had suffered a mild stroke.

We took her to the ER the next day...they scanned her and found a brain tumor.  A very large brain tumor.  It had probably been there for years.  She didn't have dementia...the brain tumor had caused the falls, the slurred speech, the dementia...everything. OMG!!!

They rushed her to another hospital.  They said she had to have surgery to relieve pressure from the swelling that the tumor was causing.

I live about 100 miles away.  I packed my two grandaughters (who were visiting) into the car and raced to the hospital...she had been sedated, she looked as though she had to work very hard to breathe.  She was restrained...they said she was pulling at her IV's. (I don't think they realized that her fingers were her eyes...and she was probably just touching/looking).  I kissed her on the forehead and said "I love you Mom...I'll be right here when you come back"...

My mother passed away during the surgery.

We were devastated...we were expecting to meet her in recovery.  The doctors camed to tell us that she had "coded" and that they were trying to resucitate.  They said they had given her 12 units of blood.  This tumor was huge and highly vascular and probably had been there for a very long time.  She was about 5 hours into the surgery when her heart stopped.  They worked on her for 20 minutes, when they came to talk to us again...they were still trying but...   I begged them to let her go.

My oldest daughter ran to find my younger daughter...she had gone to the car.  As she came to the elevator, Shana and crumbled to the floor, praying...praying so hard.

Everyone was crying..."How could it be?"...she can't be gone, we were supposed to meet her in recovery.

After a while...we were all sitting in the waiting room...not knowing what to do.  In shock, muffled cries...

The hardest thing I've ever experienced is walking out of the hospital...leaving my mother behind.  Not yet comprehending...that she was gone.

She had "IT"...VHL, damned VHL!

Here I am, three weeks later...missing her terribly.  Writing a blog about VHL, my mother and me.  Hoping that maybe our story helps another patient in some small way.

Damned VHL!

A Daughter, Sister, Wife, Mother, Grand Mother and Great Grand Mother

My mom was amazing.  She lost her sight and had three small kids. 

We did what kids do...so imagine raising kids without your sight.  I tried to do  this when I had kids of my own...you can see when they are putting pennies in the light socket, or riding their bikes off the roof or painting the neigbors dog green.  Nevermind stuff like choking on a french fry, breaking a wrist, playing with matches...the possibilities are limitless.  It frightened me and all I had to do was open my eyes.

My mother needed to read,  so she learned braille, she need to learn how to cook again, she did.  She rode the bus and navigated the local college campus...on her own.  I can't imagine stepping foot outside, let alone riding a bus??

She did.  She cooked, she sewed, she rode the bus...then she got a Guide Dog and we were in heaven.  A dog!  We used to put the harness on Enid and she'd pull us on our roller skates.  So much fun, till she saw a cat and then the real adventure came!!!  ...so did scaped knees and elbows.

Home was were mom was and as we grew older and found homes of our own, there was nothing like cramming into my mom's tiny home and celebrating Christmas and Thanksgiving.  She'd make the dinner herself and then listen while her kids and grandkids opened their gifts.  This was her joy.

She always had a shoulder to lean on, she always had the just the right words to say.  She'd give you the shirt off her back...she was not only beautiful, she was kind and gracious, she was smart, creative, fun and amazing!!!

I can't believe she is gone.

My mother passed away on August 2, 2010


DNA Tests

I had a DNA test...since I was the oldest (well, 2nd oldest).  They wanted to have the "familiar mutation".  I guess, every family has a prominant mutation.

Mine was "IT".

In 1995, shortly after I was dianosed, my daughter Shana had a very bad headache.  She went to the emergency room and was given a shot for the pain and sent home.  We didn't think a whole lot about it because, we all have migraine headaches from time to time.

The next day, she woke up and tried to walk down the hallway but couldn't see, or stand...OMG!  We rush her to the hospital and after a CT Scan, we found tumors in her brain. OMG!  She was just 19 years old...with two small children.

They rushed her into surgery and what the neurologist said was: "has your daughter been out of the country?"  I didn't understand...  He asked again; "has your daughter been out of the country?"  What he found were 4 cysts at the base of her skull, where her spine meets the skull.  The cysts had been blocking the fluid from flowing freely from spine to skull.  He said they just floated up to the surface and he removed them.  He said they looked like parasitic cysts...from eating food from another country. 

No!  She had not been out of the country. 

We went to see her in ICU and by this point I'm freaking out.  My daughter had tubes coming and going from every part of her body.  She had a big IV in her neck, her head was wrapped in guaze and there was blood on the edges of her bandages and on her pillow.  She couldn't move.  But her eyes followed me.  I knew when I looked into her eyes that she would be ok...but I'll never forget crying outside of the door in ICU holding onto my younger daughter, being scared to death. 

The doctor said when Shana woke up from surgery, she was saying "Thank you, Thank you"...she said the pressure had been unbearable and that the recovery was "nothing" compared to the headache.

Up until 1995...we thought this was just an eye disease.  Now, another one of us has something else. Brain Tumors?

Within three days, my daughter had yet another brain surgery to insert a shunt.  She would have five more surgeries...

We found out that UCLA would help us do DNA testing.  Their Genetic Departmant and Dr. Crandell would check several of our family members.

I went first and the others followed as their insurances allowed.  Others paid for it themselves.  Not everyone was tested but what we know so far, is.  My daughter and her son have it. 

My younger daughter does not.  We're told that if she doesn't...it won't be passed on.  It won't show up several generations from now.  It's not some sort of recessive gene that will pop up down the line.  So Far...

It seems that this VHL thing has a mind of it's own...and we, the patients and our doctors learn as we go along.

If you are a VHL patient, find a genetics specialist and be tested, have your family tested. 

It's better to find out this way...then finding out when you have a symptom.  Once you know, you can manage your health.  You will find that YOU will be educating your health care providers becaue most have never heard of VHL before.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/

Early Detection

Early Detection



Because VHL varies so widely, there is no consistent set of symptoms in each person. Each possible feature of the disease is detected in a different way.


If you have a family history of VHL, it is important to tell your doctor, or your child’s pediatrician, and begin screening early, before any symptoms occur. Most VHL lesions are much easier to treat when they are small. Confer with your doctor about the best time to begin screening, and the right schedule for return visits. We recommend to begin regular screening of children at risk by age 1-3 years, especially for eye examinations, and to inform the pediatrician of the family’s history of VHL.


Nearly all of us at one time or another have wondered if it is better not to know — perhaps if we just don’t go through the testing, we’ll be okay. And for some years, that may seem to be true. But some of the possible complications of VHL are sneaky — you may not even have symptoms until the problem has developed to a critical level. It’s a little like not taking care of your house or car — you may get away with it for awhile, and then it all catches up with you and it costs you a great deal all at once. There is clear, documented evidence that you will stay healthier longer if you use medical diagnostic techniques wisely and are watchful.


Detection of affected individuals by DNA analysis of a blood sample is now possible for nearly all VHL families. The accuracy of the testing, and its usefulness in more families, is increasing rapidly. DNA testing can be used to determine which members of the family need to be followed closely. It can also determine which members may be reassured that they do not carry the altered VHL gene. If they do not have the altered VHL gene, they will not need further testing, and they cannot pass the altered gene to their children.


If you are a known VHL gene carrier, or if genetic testing does not yet work for your family, you will need to continue regular medical evaluation. One normal screening examination does not necessarily mean there is no VHL present, since the first evidence of VHL may occur later in life. Occasionally a person may be so mildly affected that VHL may seem to skip a generation. VHL has been diagnosed for the first time in people as old as 80, often because their children or grandchildren developed VHL tumors.


Even when only one of the features of VHL is found, and even if there is no family history of VHL, a diagnosis of VHL should be considered and a full diagnostic evaluation of other areas of the body should be carried out. It is quite possible for someone to be the first in the family to have VHL. In some studies, twenty percent of the patients were the first in their family to have VHL.


Depending on the outcome of your screening, your doctor will tell you what particular signs need to be followed closely. In general, vision problems, vomiting, headaches, balance problems, progressive weakness in arms or legs, or persistent pain lasting more than 1-2 days and that stays in one place, should be checked by your doctor.


Once VHL has been diagnosed in any one part of the body, it is important to undergo screening for possible evidences of the disease in other parts of the body, and to return for additional screening on the schedule recommended by your medical team.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org

How do People get VHL?

How Do People get VHL?



Von Hippel-Lindau is caused by an alteration in one of your two copies of a gene referred to as the VHL gene. This altered gene may be transmitted genetically, following a dominant pattern of inheritance. Each child receives one gene of each pair from each parent. If one parent has an alteration (mutation) in a dominant gene, each child has a fifty-fifty chance of inheriting that gene. One copy of the altered gene is sufficient to produce the disease. VHL is sometimes referred to as an autosomal dominant trait, meaning that it is not limited to one sex, but may occur in both men and women.


Inheritance of a dominant gene. A child receives one gene in each pair from each parent. If one parent has a Dominant gene (D), each child has a fifty-fifty chance of inheriting the condition. Dominant genes dominate their normal counterparts (n). A dominant gene can be inherited by either a male or female child, from an affected mother or father. Illustration from the March of Dimes.




Anyone with a parent with VHL and most people with a brother, or sister with VHL are at 50 percent risk of having VHL. Anyone with an aunt, uncle, cousin, or grandparent with VHL may also be at risk. The only way to determine for sure that someone does not have the VHL gene is through DNA testing. Even in people who have an alteration in the VHL gene, however, there is a wide variation in the age at which angiomas and other VHL tumors begin to grow, the organ system in which they grow, and the severity of the involvement. Every person is different.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/

Angiomas, Hemangioblastomas, Cysts and Tumors

Angiomas, Hemangioblastomas, Cysts and Tumors



Angiomas may occur in several parts of the body. Angiomas in the brain or spinal cord, for example, are called hemangioblastomas. The pressure they exert may in itself cause symptoms. They may press on nerve or brain tissue and cause symptoms such as headaches, problems with balance when walking, or weakness of arms and legs.


If the angioma grows, the walls of the blood vessels may weaken and some blood leakage may occur, which can cause damage to surrounding tissues. Blood or fluid leakage from angiomas in the retina, for example, can interfere with vision. Early detection, careful monitoring of the eye, and treatment when needed, are very important to maintain healthy vision.


Cysts may grow up around angiomas. Cysts are fluid-filled sacs which may exert pressure or create blockages that can cause symptoms.


Some male patients experience tumors in the scrotal sacs. These tumors are almost always benign, but should be examined by your urologist. Similarly, women may have benign cysts and tumors among the reproductive organs, which need careful monitoring.


Cysts and tumors may occur in the kidney, pancreas, and adrenal glands. These cysts frequently cause no symptoms, but must be monitored for changes. One sign of adrenal gland tumors may be high blood pressure. Some of these tumors are benign, while others are cancerous. Early detection and careful monitoring are particularly important for these organ systems, usually with yearly CT or MRI, assisted by ultrasound scanning.



I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org

What is VHL?

Von Hippel-Lindau, abbreviated VHL, is one of more than 7000 known inherited disorders. Tumors will develop in one or more parts of the body. Many of these tumors involve the abnormal growth of blood vessels in different organs of the body.

While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord, or retina. These little knots are called angiomas, or hemangioblastomas. In other parts of the body the tumors of VHL are called by other names.

These tumors themselves may cause problems, or problems may develop around them. For this reason they need to be carefully monitored by your medical team.


VHL is different in every patient. Even in the same family, people may show only one or several features of VHL. Since it is impossible to predict exactly which one or more manifestations of VHL each person will have, it is important to continue to check for all the possibilities throughout a person’s lifetime.


Dr. Eugen von Hippel, a German ophthalmologist, described the angiomas in the eye in 1893-1911. His name was originally used only in association with VHL in the retina.


Dr. Arvid Lindau, a Swedish pathologist, first described the angiomas of the cerebellum and spine in 1926. His description included a systematic compilation of all other published patients, including those of von Hippel, and described changes in different abdominal organs. We now understand that both these physicians were describing different aspects of the same disease.


Von Hippel-Lindau (VHL) is different from most other conditions in that it has no single primary symptom, that it does not occur exclusively in one organ of the body, and that it does not always occur in a particular age group. Generally the condition is hereditary, but the health problems of the involved families and the specialties of the attending physicians are so varied that the common cause may not be recognized. In addition, the appearance and severity of the condition are so variable that many members of the family may have only some relatively harmless issue, while others may have a serious illness.


With careful monitoring, early detection, and appropriate treatment, the most harmful consequences of this gene can be greatly reduced, or in some cases even prevented entirely.


Researchers are also finding that a significant number of new cases are occurring. As many as 20 percent of the families seen at centers around the world are the first in their family ever to have VHL. We do not yet understand why this is happening, but it underscores the importance of the need for careful differential diagnosis in all people, not just those in families known to be at risk for VHL.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org

Cancer and VHL

VHL patients are predisposed to certain kinds of cancer.  The most feared is Renal Cell Carcinoma.  Kidney Cancer.

Once you have symptoms...it's too late.  Early detection is critical.  You may develope cysts and/or tumors...it's important to check regularly.

My Uncle Bill had RCC (Renal Cell Carcinoma).  He passed away in 1981.

What is Cancer?


Cancer can be a frightening word. Families need to know that cancer canoccur with VHL. However, with careful early monitoring and treatment, the worst possibilities of cancer may never occur.

Cancer is not one thing, it is a group of more than 100 different diseases. While each disease differs from the others in many ways, every cancer is a disease of some of the body’s cells. Cancer associated with VHL is limited to specific types.
Healthy cells that make up the body’s tissues grow, divide, and replace themselves in an orderly way. This process keeps the body in good repair. Sometimes, however, normal cells lose their ability to limit and direct their growth. They divide too rapidly and grow without any order. Too much tissue is produced, and tumors begin to form. Tumors can be benign or malignant.

• Benign tumors, such as VHL tumors of the brain, spine, and retina, are not cancerous and do not spread.
• Malignant tumors, like those which may occur in the kidney, are cancerous. They can invade and destroy nearby healthy tissues and organs. Cancer cells also can spread, or metastasize, to other parts of the body and form new tumors.

Because VHL can cause malignant tumors in the visceral organ systems, it is considered one of a group of familial cancer risk factors, which are transmitted genetically. The objective is to find tumors early, watch for signs that a tumor is becoming aggressive in its behavior, and to remove the tumor before it invades other tissues. Since these tumors are inside the body, you need medical imaging techniques to find and watch them.

Not all tumors require surgery when they are found. Research is going on to learn more about how to tell when a tumor is getting worrisome and requires action. You and your family can help researchers learn more about how long we can safely watch tumors by sharing your family’s own experiences. Please contact the VHL Family Alliance for more information on researching your family tree.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/

VHL and Me

Once my family started getting tested, they found that they must have received the mutated gene from their father, my grandfather.

He had died in 1958.  He had lost his sight but they thought it was because of diabetes or something else.  No one knew he had VHL.  It's likely other family members had VHL but were never diagnosed.  Some living their lifes normally without symptoms and others not.  It's hard to know for sure who had it and who didn't.

My brother and sister and I all had our regular eye exams during the 60's.  We all made it the 20 year mark and breathed a sigh of relief because that's what the doctor said.  If we didn't get it by the time we were 20 years old. Chances are we wouldn't have it.

"It"...VHL.

In the late 1970's early 1980's my Uncle Bill found out he had kidney cancer.  We also found out that Renal Cell Carcinoma is related to VHL. 

If you have VHL, you are predisposed to Renal Cell Carcinoma...in addition to tumors and cysts in other parts of the body.  The brain, spine, pancreas, retinas, kidneys, adrenal glands, spleen and reproductive organs...even the ears. 

"What happened to the part about just being an eye disease?"

Uncle Bill had been a football player in college, he was a football coach, he was the epitomy of health, never had a cavity.  So when he got cancer...it was hard to believe.  Harder yet to absorb that this is "IT"...VHL.

It's 1995.  My employer just changed our health insurance program, and while flipping through the pages, I see a familiar name.  I call my mom and ask, "what was the name of the doctor who diagnosed you?"   She said, "Dr. Straatsma" at UCLA. 

Wow, Dr. Straatsma is in my network...I quickly called and made an appointment.  Even though I had just had an eye exam a few months earlier.

I met with Dr. Straatsma the following week.  He remembered my mother and my uncle and my cousin...  My cousin, was diagnosed at age 12 with angiomas on her retinas. 

Hey, I was just coming in for a check up...thought it would be great if an "expert in VHL" would take a look at me...since "the eye disease" isn't just and eye disease any more.

After dialating my pupils...after looking into my eyes with magnifying lenses, after about 20 students all took a peek...I was starting to get nervous.  The doctor wanted to take specialized photos of my retinas.  ugh.  Not sounding very good...and it wasn't very good.  I was diagnosed in 1995.

So another round of tests, my brother and sister, my daughters and my son...all were tested.  My brother was diagnosed then too.

Knowing for Sure

After my mom lost her sight.  They ran more tests...genetic tests.  They tested others in the family and found out that her brother, my Uncle Bill had VHL too.

They were able to save Uncle Bill's vision by catching the Angiomas early.  Their treatments were done at UCLA's Jules Stein Institute.

They dialate your pupils, they numb your eye and you sit with your chin in a strap...just like when they check your vision.

They point a laser beam at the Angioma and "zap it".  The heat from the laser acutually cauterizes the Angioma.

It's important to get checked regularly because these Angiomas will more than likely continue to "pop up" throughout your lifetime.

Optometrist or Opthamologist

Mom, started having vision problems when she was 16 years old.  Her parents took her to the "eye doctor" and they checked her and fitted her with glasses.

Had she seen an Opthamologist...they may have noticed the little Angiomas growing on her retina.  They may have been able to save her sight.

Instead, in 1962 or 1963 she woke up blind in one eye.  They went to the doctor and then to specialists and was diagnosed with VHL.  Her retina had detached.  Later they tried to save her other eye but...no use.  It was too far gone.

My mom lost her sight. 

...In The Beginning

The first time I heard it, I didn't really know what it meant.  VHL, Von Hippel-Lindau...sounds foreign, sounds strange, sounds scary.  Especially when it's something you have.

This is VHL in a nutshell:

Von Hippel-Lindau (VHL) is a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels. It is caused by a flaw in one gene, the VHL gene, on the short arm of chromosome 3, which regulates cell growth.

There is more to it...but we'll get into that a little later.
 
My mother found out she had VHL when she was 25 years old.  It was 1964.  She had been married about 9 years and had 3 small children.
 
I remember my dad taking me out onto the front porch and saying: "Susie, your mom is losing her sight. You're going to have to be a big girl and help out more.  Ok, get ready, mom is driving you to school".  What?  
 
I didn't know she had one good eye left.  Depth perception was an issue...on our way to school, she hit the curb and I thought we were all gonna die.  She didn't drive very long after that.
 
In 1964, we didn't know that much about VHL.  My family was told it was an eye disease.  Get your eyes checked every two years and if you don't have it by the time you are 20 yrs old, chances are you won't get it. 
 
Well...VHL isn't something you "get".  You either have it or you don't.  You can't catch it like a flu.
 
So we all got our eyes checked every two years.

I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/