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Genetic Testing----I'm an A

jdwilli09
0 Recommendations

I just had a genetic sequencing done, blood drawn at USC Norris and then sent to Johns Hopkins. They say that with VHL that the mutation usually shows up as a G or a C and T is normal or something like that. I dont have the results in front of me. Anyways, I was an A. And they said that I am the only one ever recorded. They won't even say that I have VHL now. My mom just got drawn for variance tracking, I guess they have to see something a certain amount of times before they'll call it anything. We've always just had the clinical diagnosis. But, my wife and I decided that we wanted to have a baby and we are going to do the PGD thing. So, they required genetic testing to find the mutation in the embryos. Anyhow, I was just wondering how many people have had the genetic testing done, and maybe even what their results were. We have a great genetics counsilor at USC who has been very informative and helpful so far, but I was curious about other peoples stories. Just in case anyone is curious, I have lesions in my retina, cerebellum, 4th ventricle, spinal cord, cysts throughout my abdomen, I think in the pancreas and spleen and also have RCC and neuroendocrine tumors. I've had a partial nephrectomy (left side), 3 laminectomy with mass resection, 3 cryoplasties on my right eye and who knows how many argon laser ablation treatments on both eyes. I dont know if someone else comes back as an A if they can expect to have the same symptoms as i have or how exactly it all works, but maybe. I look forward to reading what you all have to say. Thank you in advance for your replies, and God Bless.

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21 replies

JuliaM

Hi jdwilli09!
A week ago my sister got DNA test results. She had c.341G>A change. Her doctor said, that he foun only one person, that have similar DNA change.

Ministertammy

My husband had his DNA testing done through John Hopkins and the report came back negative for VHL mutations. We were surprised because he has two hemangioblastomas in the area of his brainstem and other "spots" in the brain plus multiple tumors in his spine (which have not been biopsied but docs assume they are also hemangioblastomas). Last winter we met with a geneticist at Mayo Clinic in Rochester, MN and he thought Larry was probably mosaic - which I had read about in this forum and also thought described Larry's situation -- basically a first mutation in the family & negative DNA test. So, the geneticist requested the tumor slides from Larry's two brain surgeries (1998, 2005) and did some testing of those tissues. Yesterday we received a written report in the mail from him expressing his surprise that he could not find a VHL mutation there either. He said, "This was disappointing and somewhat surprising, given how many tumors you have had. It may be that there is a change in the gene which is simply not detectable by the methods we currently use." It is very frustrating at times to have such a rare condition that even a geneticist at Mayo Clinic is stumped.

joyceg98

re Splenda...

Since we got into a conversation about sweeteners in this thread, I am posting this press release here. I do not know this advocacy organization, but Duke University and the Journal of Toxicology are quite reputable sources. -- Joyce

Chairman of Citizens for Health Declares FDA Should Review
Approval of Splenda

New Study of Splenda and Sucralose Reveals Shocking New
Information About Potential Harmful Effect on Humans

MINNEAPOLIS, Sept. 22, 2008 (GLOBE NEWSWIRE) -- James Turner, chairman
of the national consumer education group Citizens for Health expressed
shock and outrage after reading a new report from scientists at Duke
University. "The report makes it clear that the artificial sweetener
Splenda and its key component sucralose pose a threat to the people who
consume the product. Hundreds of consumers have complained to us about
side effects from using Splenda and this study, published this past
week in the Journal of Toxicology and Environmental Health Part A,
confirms that the chemicals in the little yellow package should carry a
big red warning label," said Turner.

Among the results in the study by Drs. Mohamed B. Abou-Donia, Eman M.
El-Masry, Ali A. Abdel-Rahman, Roger E. McLendon and Susan S. Schiffman
is evidence that, in the animals studied, Splenda reduces the amount of
good bacteria in the intestines by 50%, increases the pH level in the
intestines, contributes to increases in body weight and affects the
P-glycoprotein (P-gp) in the body in such a way that crucial
health-related drugs could be rejected. Turner noted that the P-gp
effect "could result in crucial medications used in chemotherapy for
cancer patients, AIDS treatment and drugs for heart conditions being
shunted back into the intestines rather than being absorbed by the body
as intended."

The study was conducted using male rats over a period of twelve weeks.
The manufacturers of Splenda also used a rat study when they applied
for and received approval to market the product from the U.S. Food and
Drug Administration. At the time, the findings from their rat studies
were extrapolated as to possible effects on humans. This is standard
FDA practice and this study is consistent with that practice.

Turner said, "This report followed accepted policies and procedures and
the results make clear the potential for disturbing side effects from
the ingestion of Splenda. It is like putting a pesticide in your body.
And this is at levels of intake erroneously approved by the Food and
Drug Administration. A person eating two slices of cake and drinking
two cups of coffee containing Splenda would ingest enough sucralose to
affect the P-glycoprotein, while consuming just seven little Splenda
packages reduces good bacteria." Although the effect of consuming
Splenda does not result from a one time use, the side effects do occur
after accumulated use. Turner also noted unmistakable evidence that
Splenda is absorbed by fat, contrary to the claims of Johnson &
Johnson.

Turner announced, "We are calling today on the FDA to immediately
accept our petition filed over a year ago and initiate a review of its
approval of sucralose and to require a warning label on Splenda
packaging cautioning that people who take medications and/or have
gastrointestinal problems avoid using Splenda. The new study makes it
clear that Splenda can cause you to gain weight and lose the benefits
of medications designed to improve and protect your health. The FDA
should not continue to turn a blind eye to this health threat."

Citizens for Health will testify in Sacramento, CA, on October 3, 2008,
before the California Assembly Committee on Health which is examining
the use of deceptive advertising to promote sales of potentially
unhealthy food additives, particularly artificial sweeteners.

About Citizens for Health

Citizens for Health (www.citizens.org) is an international non-profit
consumer advocacy group working to broaden healthcare options, create
an integrative health system based on wellness, and advance the freedom
to make health choices. The group promotes the fundamental policies
needed to improve health choices and information in the U.S. and
internationally. The group works with grassroots and education
organizations and partners to ensure consumer access to dietary
supplements, safe foods, a healthy environment and a wide range of
healing therapies. Citizens for Health fosters active citizen
leadership and organizes natural health consumers to create political
and legislative solutions that support those rights.


-0-
CONTACT: Citizens for Health
Jim Turner
202-255-8040
jim@swankin-turner.com

cmdoyle

Very well put, Joyce. That old cliche of "better safe than sorry" really comes into play here. Stay on top of your screenings and check-ups, regardless of what category you may fall into.

Christina

joyceg98

The categories were created in an effort to begin to "read" the genetic code and predict what would happen. Unfortunately it has not proved to be that simple. The percentage risk of pheo or kidney cancer is about all we can determine in advance.

From a screening standpoint, it really makes little difference which category you are in, we still have to screen for all kinds of tumors. Even though the risk of some types of tumors may be lower, none of them can be ruled out -- we still have to check.

Best wishes,
Joyce

Beverly2

I have a question...what is an "A"? I read in the handbook about Type 1 and Type 2 (with types 2A, 2B, and 2C), but I'm not sure if that is what this line of questioning is referring to.

I asked the genetic counselor if the lab at CHOP could place Steven under one of these catagories based on his genetic testing, and the counselor said that the lab at CHOP indicated that Steven would be affected in all ways.

Is it possible to be placed in a sub-type of VHL based on genetic testing?

Nelsonb

In respect to sugars, years ago I switched totally to brown rice syrup when I read that it has a positive difference from most plant sugars. I no longer know what my source of knowledge was back then. Maybe someone who reads this knows more about it. But here's what I recall:

Table sugar, brown sugar, mollasses, even raw sugar cane, plus honey (and probably corn syrup & maple syrup) are all composed of simple sugars. Whereas brown rice syrup is composed of complex sugars.

Simple sugars break down into energy very quickly. That makes them easy to overdose with, often resulting in the overdose getting stored as fat in tissues. In addition, I've read that the fast conversion to energy can even burn out cells.

Complex sugars, on the other hand, break down much more slowly. That means it's less likely to get unhealthy "spikes" from them and less likely to overdose on them or burn out cells in the breakdown process. This is all because, as the word "complex" suggests, it's a more complex molecule that takes longer to break down into energy.

As the name brown rice "syrup" implies, it's a syrup like honey. However, it doesn't have the sharp flavor that honey commonly has. It has its own unique flavor, but it's relatively mild. Thus you may find yourself wanting to use more of it, at least until you get use to it. But even if you do "overdose" on it, at least it's less likely to produce the same harmful effects as simple sugars.

Personally, I've come to love its flavor. I've even been known to spoon out a teaspoon full and stick it right in my mouth now and then.

And I might add that I'm 5'9" and 120 pounds. I think everyone would agree that that is NOT fat. If anything, it's skinny. Of course, I'm convinced that my physiology is NOT one that's predisposed to adding fat. I've never weighed more than 135 pounds, even when I was eating like a horse and doing giant swings on a highbar.

Brown rice syrup is expensive. I buy it by the case to cut down on the cost. It lasts forever. I've never experienced it going bad, even when the last jar was opened several months after purchase.

I buy the only brand that I've ever seen, Lundberg, from the health food store. Lundberg comes in organic and non-organic, but both types are advertised as "Eco-farmed", made with whole grains, and with only brown rice and pure filtered water as ingredients.

The organic is too expensive for my pocketbook, so I get the non-organic. My last case of it cost me $41.85 for twelve jars that are 1 lb. 5 oz. each.

I noticed that on each jar is the web site www.lundberg.com, which I haven't visited yet.

Cheers *holds up his morning coffee with brown rice syrup and vanilla flavored soy milk in it, licks his lips, & takes a gulp*

Nelson

joyceg98

For Susana --

SRS = stereotactic radiosurgery. See http://vhl.org/stereo

Best wishes,
Joyce

joyceg98

Re the Essiac tea question above, this is an old American indian remedy that has been suggested to constrain tumor growth. Several of our people have reported that it does seem to help some with abdominal tumors, and especially with abdominal cysts (kidney, pancreas), but it does not seem to do anything to neurological tumors (brain, spine).

If anyone in this list has used it, please add your own experience.

Best wishes,
Joyce

joyceg98

I posted the previous message before including the negative spiel about Splenda:http://www.truthaboutsplenda.com/factvsfiction/index.html

Many nutritionists say "no sugar" (which includes Splenda). Others say that a little bit of honey, molasses (made from sugar), or raw sugar is okay. All agree that Stevia is good. Molasses and raw sugar have more of the natural nutrients of sugar before all the processing to make it white takes out all the nutrients.

I am seeing Stevia in more grocery stores all the time. You can certainly find it in a health food store or Whole Foods and Wild Oats, Trader Joe, and in an increasing number of organic-aware stores. I have a box of little green packets that you can easily carry along.

Seems to me that when in doubt, natural is best. I'd rather have a small amount of raw sugar than Splenda.

Or simply eat a piece of fruit. Add a banana and it will be plenty sweet.

The deal is this: sugar makes you crave more sugar. It can also set of a chain reaction in your body having to do with insulin production and instructions to your fat cells to store fat. So whatever you can do to minimize sugar intake is all to the good. Just don't substitute chemicals for sugar.

joyceg98

There is a lot of controversy about Splenda. Certainly if you are doing all that you describe, that's GREAT!

Here's an article that is in favor or Splenda.
http://www.medicinenet.com/script/main/art.asp?articlekey=56790

Notice that aspartame and saccharine are both petroleum products and are not good. Other studies show that these are carcinogens.

The purists don't like Splenda either because it's a modified molecule, not a natural sugar molecule. But of all the substitutes, it's the best of the available choices -- except of course Stevia, which is a natural plant itself, and which you can also use in cooking.

cmdoyle

Joyce, I was wondering if you could explain a little bit more about avoiding sugar substitutes. I've avoid almost all sugar, and as much high-fructose corn syrup as possible. Aside from the fact that it's generally a good idea, my teeth are so prone to cavities that I'm trying best to stay OUT of the dentist's chair! So far, it's worked; no cavities in about 6 years, which is how long I've been monitoring my sugar intake.

Because I monitor my sugar, I look for items that have splenda rather than sugar. I bake all the time, and I bake with splenda whenever possible. Is splenda not a good thing?

gale

Joyce,

I agree with the food issues. I don't drink milk and never liked it even as a kid, but I do eat cheese. Monitor your body after eating something.

If you experience a coating in your throat ie milk, don't drink it. Your body doesn't respond well.

If you eat something and start clearing your throat, same thing. The body is rejecting something you just ate.

We may not be able to change our DNA structure, but we can change the environment our cells bathe in.

Be well,
Gale

susana

Another issue, at jdwili09 post, he talked about SRS, can you please tell me what's that?

Many thanks for your help,
Susana

susana

Hi everyone,

I think we are what we eat, so I agree with Joyce. So it’s possible that maybe, we can sustain tumours growth with a good and equilibrate diet.
Beside that, I’m thinking in additional natural treatments. Do you know ESSIAC? It’s a good start, as a complement? Please send me your experience.
To you, all the Best!
Susana

joyceg98

It sounds like you are doing a good job of keeping up with things medically.

There are three other things that we as a family alliance have identified that are extremely important to your health. Some of you will think I'm going off on a tangent, but others here know that I'm not kidding. In addition to all the medical work you are doing, here are some other very important things to add to your program -- all equally important!

(1) get enough sleep (7+ hours per night). That's the time your body does its best repair work. If you short your sleep, you are interrupting your body's self-repair time.

(2) manage your stress. Just getting more sleep will make a big impact, and (3) below will also help, but add some stress management effort into each day -- take a walk, say a prayer, do some meditation, watch a funny movie, laugh out loud.

(3) eat right. Not such an easy thing to do in these days of VERY confusing information about foods. I'm doing a series on PowerfulPatient in order to learn myself what that means. But here's what I've learned so far (others please add or correct as necessary):
-- AVOID all food colorings, additives, and preservatives. If you can't pronounce it, don't eat it.
-- AVOID refined sugar and ALL sugar substitutes except Stevia, which is a plant. You can get Stevia in little packets just like the sugar substitute packets and carry a supply with you. Or use a small amount of honey or molasses or raw sugar (it looks light brown).
-- ADD fruits and vegetables to your diet. Minimum of five servings a day, the more the merrier. Fresh is best, juiced is terrific, but whatever appeals to you is best for you.
-- ADD whole grains -- oatmeal, barley, rice, quinoa, explore what's available and experiment to find ones you like. one-half cup at each meal will help fill you up and provide the fiber you need for good health.
-- MINIMIZE meats. A serving the size of your palm once a day is all the protein you need, and more is harder for a wounded kidney to deal with, so if you have had any kidney procedures at all, think about reducing meats. Still hungry? Eat fruits, vegetables, and whole grains.
-- There are mixed messages about dairy products. Many people are lactose intolerant and may not even know it. Try milk with no lactose for a week and see if you feel better. Or try goat milk instead. Personally I don't like the idea of eliminating any one food group, just find the right balance for you.

And yes, I'm serious that I believe this will help slow the pace of all VHL tumors. I'm open to disagreement and discussion. Feel free to hop on me!

Best wishes,
Joyce

jdwilli09

Thank you very much for the replies. I appreciate any additional info or thoughts anyone may have. I have the DNA Lab report here, it says that the interpretation is Nt434T>A(V74D). Im not entirely positive what that means. But, I noticed that you said that A goes with G and mine looks like T goes to A.
Im not sure where I would fall into the typing that you linked to christina, I've never had a pheo but had the RCC. My mom is the opposite, no kidney cancer but has had pheo. I've never really put all that much thought into VHL. It was just something that I had and needed to take care of it. I did all my testing and when they reccommended surgery, I had surgery. Lately though Ive been increasingly interested in trying to learn more about the disease and trying to find out if there are any non surgical options that are less invasive to take care of some of the problems that we have. My sister recently had SRS for a brain tumor I believe was in the cerebellum. When she went back yesterday they said that it had shrunk 30%. So that is pretty cool. Thanks again for the messages. God Bless.

joyceg98

I just re-read your message, and I think I understand the part about "My mom just got drawn for variance tracking, I guess they have to see something a certain amount of times before they'll call it anything."

I think (this is a guess) that this is needed for the PGD you are undertaking. When they do genetic testing of an embryo, they have only one cell to work with. They take the DNA from that one cell and "amplify" it so there is enough to do a reliable test. They usually do some "linkage analysis" also in order to be certain of their answer. It's more to verify the results for the embryo than anything to do with you.

See if that fits.

Best wishes,
Joyce

joyceg98

1. You DO have VHL. You have a clinical diagnosis that is quite clear just from what you have said here. The clinical diagnostic criteria are that you have tumors in two VHL sites, and you have more than that.

2. ANY alternation along the VHL gene can cause the condition called VHL. All it takes is one tiny little "misspelling" in the gene.

3. There are only four "letters" in the DNA sequencing: CATG. And they go in pairs: C and T go together, and A and G go together.

When they say you have a G-to-A change at codon <some number>, it just means there's a tiny misspelling at that milepost marker along the gene.

When Dr. Rocha did his Ph.D. thesis on VHL in 2000 in Brazil, he found about 40 people with VHL in 18 families in Brazil. Of these, there were 9 mutation types that had never before been seen anywhere else in the world. That doesn't mean they don't have VHL, just that it's a different spelling error along the gene than had yet been reported. But whatever the spelling error, the chapter is not perfect, and the gene doesn't work quite right.

4. So you might want to get some clarification, or look at the letter again. Usually it's something like the "217C>T" that Frupper quoted above, meaning a C-to-T alteration at codon 217. Think of a codon as a milepost marker along the length of the gene.

Here's another analogy that might help. The gene has lots of information in it, like a chapter in a book. It's like saying there's a misspelling on line 217 of the chapter, two letters swapped in one word. That's enough to make the chapter imperfect and keep the instructions from working just right.

And Christina is quite right. Based on the "genotype" (the kind of alteration or where it is, 217C>T) we do not yet know how to predict what the "phenotype" (the collection of symptoms and issues) will be like. We know a tiny bit about the shift in the probabilities, but that's all.

And that's all in the realm of what you can't do anything about. What you CAN do is to keep your mind and body strong, get plenty of sleep, eat right, and keep that second copy of the gene working in every cell. As long as that second copy of the gene is doing its job, it doesn't matter that the one altered copy is there.

Best wishes,
Joyce

cmdoyle

Hi there. I am studying to become a genetic counselor and I've done a fair amount of research on VHL, so this is what I know. There is no guarantee what symptoms a patient will have; however, depending on what mutation they've had, there is a likelihood of certain problems happening more than others. To see a really good breakdown of this information, go to http://www.vhl.org/research/nci-clas.php.

This classification system is confusing because it's important to remember that these classifications are predispositions, not guarantees. For example, I have type 2B. This means that I could have kidney cancer and pheos, but someone with type 2A would not be likely to have kidney cancer from VHL. I currently have kideny cancer but I've never had a pheo. Go figure, right? Not really.

Having VHL means having an alteration in the allele pairing that everyone has at that gene site. That change alone (whether A-->G or anything else) isn't enough to determine, with certainty, what problems a patient will have or not have. Even though you inherited VHL from a parent, you will not present those same exact symptoms over your life. This is because VHL presents itself differently in each patient. VHL typing, or categories, tells you what you are likely to be exposed to but it cannot guarantee which of those certainties you will end up with - that's up to chance.

I hope this information helped!

Christina

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