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.
Sunday, August 22, 2010
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
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
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
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/
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/
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