DNA testing

[Guest guest]

Hi, I recall some exchanges recently about a particular type of DNA testing

but cannot remember the exact reference to it ... we are in the process of

moving back to NZ to live and I don't have access to previous posts and

wonder if someone can help me!!

if you read this and know what it is, do you know if it is available

in Australia?

Thank you,

Caroline Stronge.

Re: rheumatic C. Diff

> Hi Ethel;

> There was a very interesting article in the Montreal Gazette last week.A

> McGill universite study found out that people on heartburn drugs such as

> Nexium seem more prone to getting the potentially dangerouse diarrhea

> caused by the bacterium C.Difficile.The amazing thing was that these

> people were not taking antibiotics nor in hospitals or nursing

> homes.Doctors have been doling out these drugs for everyone and his

> brother who might just be overindulging.

> There is an other study showing that the drugs lower the levels of

> gastric acid that keeps C.Dif. from developing.And an other study in

> Maine showed that proton pump inhibitors were implicated in a C.Dif.

> outbreak at a hospital and a nursing home ,these people had not been on

> antibiotics either..

> The conclusion is that these drugs should not be given out until every

> thing else has been tried...such as tums etc.Doctors thought that the

> growing pronlem of C. Dif. was due to the overuse of antibiotics but the

> new data suggests the overuse of acid fighting drugs.

> I think there is a study being done in Chicago .I wonder if they will

> come up with the same results as they found in Montreal

> Lynne

>

>

>

>

> Ethel Snooks wrote:

>

>>

http://www.washingtonpost.com/wp-dyn/content/article/2005/12/29/AR2005122901575_\

2.html?referrer=emailarticle

>>

>>

>> C. diff is an opportunistic infection.

>>

>> No matter what type of drug you are on, you need to be taking a good

>> probiotic - and plenty of it.

>>

>>

[Guest guest]

To our new member " Harley/ " ,

Have your doctor contact the DNA testing lab, Athena Diagnostics in

Boston to get all the info about the blood draw, paper work, cost, etc.

http://www.athenadiagnostics.com/

Your doc will be able to order the test depending on your EMG/NCV test

results. If you haven't had those, your doc will most likely want you

to have 'em before the genetic test.

~ Gretchen

[Guest guest]

Hi,

Currently my son is awaiting genetic testing to see if they can tell us which

type of CMT he has. We had it done through Athena Diagnostics

www.athenadiagnostics.com. The test is called Complete CMT evaluation. Check

into your insurance as it is VERY expensive. (approx $6,000). They do offer a

Patient Advocacy Program where you agree to pay 20% of the cost and if your

insurance doesn't cover the test you will only be charged the 20% of the total

cost. It can take at least one month to get the results.

Unfortunately we were told (as was my sister) that he has a mutation that they

have never seen before and they are doing a retest on him. My sister's results

only was able to state that is was a form of CMT but couldn't classify which

one. I hope we get more info than that on his results.

Carmella

[Guest guest]

As I understand it it is believed there are more genes than they know

about that cause CMT. The CMT diagnosis comes from your doctor and the

symptoms if Athena's tests are negative. My husband's PMP 22 [i think]

was repeated because it was inconclusive, and then it was negative.

However, his nerve tests and physical symptoms all point to CMT. There

is no one specific CMT gene.

Elinor

[Guest guest]

Hi Holly!

Someone who's mother spelled it right! My mom thought she was making

me unique -- which she did, but boy can that 'i' be a pain. When I

say " Holli with an i " they say " oh, H-o-l-l-i-e " ... no. " H-o-l-i? " ...

well I'm pretty good but not Holy. Then I went and named my daughter,

Paige... with an 'i'. Not P-a-g-e. Poor kid, you'd think I'd have

known better. Anyway, I digress.

You asked: " Did you have DNA testing? Which type do you have? Does

any of your family have CMT I mean, this may have been an " aha "

moment for you in realizing that other family members are affected,

just never put your finger on that there was actually something

wrong. "

I did have DNA testing, that's is the only way I knew it was CMT. I

had done copious research in textbooks and online to come up with a

rational reason for the symptoms my whole family suffers. It was

stepped up when my sister was being tested for lupus because of her

pain and leaden feeling. I was sure that was wrong and didn't want to see her on

all those immunosuppressive drugs.

I also have had 2 years of numbness and burning parasthesias over my left face

which no one could figure out. (frustratingly, most neuro docs and ENTs I went

to just shrugged their shoulders and said it will probably go away someday).

I came to the conclusion that the family has Ehler's Danlos type IV (Benign

Hypermobile Joint Syndrome) from my mother's side. We

(mom, me and my sisters and our children) all fit the clinical

criteria beautifully. That didn't explain it all though. Including

the hammer toes, high arches, drop foot, my sister's symptoms, my

symptoms, the tendancy to loose feeling in a limb for hours to

months, etc.

So on I went with the research and was fairly convinced

that on my dad's side we've inherited HNPP (mutation of PMP22 gene

causing reduplication). So armed with this I went to a new

neurologist. She was quite skeptical to say the least. Guess doing my own

research makes me most likely to be a hypochondriac, so what if I'm an MD and

that is how I was trained to attack the problem.

She elected to do an EMG. I told her I've already had 2, they are slow. She gave

me an indulgant smile and said, " let's just check it again " . I think she really

wanted to see if I was willing to endure the pain, to give credence to my

claims. When the results came back, the attitude sure changed!

She said, " you must be really having a hard time! You should do your best to

keep as active as possible. " Wow. I didn't think I was THAT bad off. At any rate

she sent the genetics testing for me and turns out I was really close. I had the

correct gene, but not the reduplication. PMP22, which I believe makes me a CMT

1?

My dad and his mother are classic examples (especially the feet) of CMT. I don't

know why no one ever put it together until I decided this wasn't right. One of

the reasons my sisters and I were never worked up is because we had a loose

jointed mom and a dad who got pinched nerves all the time and between the two of

them we were

reassured that all the experiences that would have alarmed many, were completely

normal.

On the bright side, Mom and Dad run a cattle ranch. Both are active -- VERY

active -- in their mid 60's with horses, cows, sheep, pigs and dogs. They work

harder than anyone I know and if you didn't ask them you'd never guess that Dad

has to have his boots specially made and hasn't felt some of his fingers for

months. Mom can dislocate her shoulder at will, and help Dad get his arms down

from over his head if he falls asleep that way!

Only one of us has had drop-foot, my sister. She had it for 6 months

and then it spontaneously resolved. No one is in AFOs (though that

sister and a neice and nephew from the other sister all wore braces

for hip dysplasia). The episode of drop foot was over 20 years ago.

That doesn't seem consistant to all I've been reading here. I guess

time will tell.

That's us in a nutshell.

Holli

[Guest guest]

Wow Holli! Your story sounds so similar to mine! Except the joint

hypermobility and the CMT both come from my mom.

I am just embarking on genetic testing. I will let you know which type I have

although I am sure it is 1A. Although they do say that maybe the hypermobility

is another subtype of CMT.

I am glad to hear that you have a really active family and that you all have

very minimal signs. Sometimes I feel a bit bad as my signs are minimal to the

onlooker - but I know they are there. I feel it more recently, particularly in

my left foot which is aching (ankle rolls over I don't know how many times ever

but maybe you are right the ED brings out the CMT more?), and I sure am tired

from the gardening on Sunday - I have never feltso battery is drained before!

Best wishes from London,

Donna

[Guest guest]

>

> Somebody has just sent me details of a company that carries out some

form of

>

Hi Sheila and everyone,

I sent a hair sample to this lab when I was first diagnosed just to

see if they could pin point my problem. The result was not very

satisfactory as they did not recognise the thyroid problem only that

" there were two infections " going on. They then suggested a course of

treatments - all quite expensive - that they were obviously selling.

Unless they have radically changed - then beware.

They also told me that I was allergic to brazil nuts and mangoes! So

when I get my food sensitivity test done, I will see if that says the

same!

Luv,

Anne

[Guest guest]

Before you have DNA testing, a determination of your symptoms needs to be done

to identify which CMT type you may have. A good starting point is the web site 

wrongdiagnosis.com  and when their web page opens

just type in the words FOOT DROP in the search block. When the next window opens

scroll down to 50 causes of FOOT DROP and click on it, then click on show all 50

causes. Then you can click on the symptoms for each of the CMT types. Only some

of the causes presented are for CMT with the rest for other neurological

problems.

I had DNA testing done for CMT2 with negative results and my sister had it done

also at Athena Diagnostics for CMT1A with a negative result. So in my view, DNA

testing is of little worth unless they can test for all types with one blood

analysis or at least be more definitive in your symptoms before performing the

test.