Re: DNA Test results for the Kids

[Guest guest]

Hi Matt,

I know the " wait " makes people nuts. Since you're in Canada, your health system

is different than here (U.S.) but perhaps if you write a letter to the doctor

and ask for ALL of your son's records, you will be verifying who you are (the

father). Doctors here don't give results over the phone, I had to write letters

to my docs just to get copies of all tests and reports - for my personal files.

These docs were in private practice, however, and not connected to a

University/teaching center. But it's worth a shot in writing, because you may

need to help your son with some adaptive aids, etc.

Gretchen

>

> Hi all, how is everyone? Just have to get this off my chest and I will be OK

again. So here's the story.

>

> Every Jan/Feb I see my neurologist. In Jan 2009 I asked about getting the

kids tested. I was told to have my family Dr. make a referral to the

specialist. That took a few months and then got the appointment in Jul. He

looked at them and ran the usual touch tests, and ran strengh test. I was not

letting them do an EMG on them. I asked for the just the DNA test if he thought

they had it. After seeing them both he figured that they had is and ordered the

blood tests. We went and got the done same day.

>

> Now, they go the results a couple of months back, end of Aug beginning of Sep.

They called to make an appointment in Dec. I asked for the results then and

told that they do not do that over the phone, bla bla bla. I said ok we hung

and then today I get a letter stating the appointment has been pushed for Jan.

I called right away, as I ticked off. I want the results, still got the same

answer from the admin. I let lose then, telling them they have no idea what it

is like waiting. I just want to talk to the Dr, why is that so hard sometimes.

They almost make it impossible sometimes hoping you will go away. I need to talk

to the school, as my boy is starting to have issues on the playground, kids

teasing etc.... His writing is horible and they just stated on his report card

(we got today of course) that he needs to improve writing etc....

>

>

> Anyways, I am beside myself at the moment. I know it will all work out, but

this is just crazy. They know the result, and I have a right to knpw. Thanks

for listening.

>

> I fell better, :-)

>

>

>

> Matt

>

> Canada

>

>

>

>

[Guest guest]

Thanks Gretchen, you are absolutely right. Its funny I was talking to my wife

afterwards and I thought the same thing. I have a right to know what's in the

file since its about me, or my kids. I think I will take you up on the idea and

write a letter. I know when I had my DNA test I got a letter from what was then

a different specialist. It was nice and simple and since it went to my home, no

privacy issues. Its just so frustrating, I am finally doing what is right for

the kids and run into road blocks.

(Canada)

Re: DNA Test results for the Kids

Hi Matt,

I know the " wait " makes people nuts. Since you're in Canada, your health

system is different than here (U.S.) but perhaps if you write a letter to the

doctor and ask for ALL of your son's records, you will be verifying who you are

(the father). Doctors here don't give results over the phone, I had to write

letters to my docs just to get copies of all tests and reports - for my personal

files. These docs were in private practice, however, and not connected to a

University/teaching center. But it's worth a shot in writing, because you may

need to help your son with some adaptive aids, etc.

Gretchen

>

> Hi all, how is everyone? Just have to get this off my chest and I will be OK

again. So here's the story.

>

> Every Jan/Feb I see my neurologist. In Jan 2009 I asked about getting the

kids tested. I was told to have my family Dr. make a referral to the specialist.

That took a few months and then got the appointment in Jul. He looked at them

and ran the usual touch tests, and ran strengh test. I was not letting them do

an EMG on them. I asked for the just the DNA test if he thought they had it.

After seeing them both he figured that they had is and ordered the blood tests.

We went and got the done same day.

>

> Now, they go the results a couple of months back, end of Aug beginning of

Sep. They called to make an appointment in Dec. I asked for the results then and

told that they do not do that over the phone, bla bla bla. I said ok we hung and

then today I get a letter stating the appointment has been pushed for Jan. I

called right away, as I ticked off. I want the results, still got the same

answer from the admin. I let lose then, telling them they have no idea what it

is like waiting. I just want to talk to the Dr, why is that so hard sometimes.

They almost make it impossible sometimes hoping you will go away. I need to talk

to the school, as my boy is starting to have issues on the playground, kids

teasing etc.... His writing is horible and they just stated on his report card

(we got today of course) that he needs to improve writing etc....

>

>

> Anyways, I am beside myself at the moment. I know it will all work out, but

this is just crazy. They know the result, and I have a right to knpw. Thanks for

listening.

>

> I fell better, :-)

>

>

>

> Matt

>

> Canada

>

>

>

>

[Guest guest]

Hi Matt -

Wow - I am so sorry you are having to go through this. My sons neurologist

personally called me with the DNA results the afternoon he got them. It seems

ridiculous to make you wait so long. Maybe you can go directly to the office

and get the report # and call Athena directly. I've done that several times

since our report just to ask questions and they've been most helpful. So - if

the tests were run by Athena it might be worth a try.

As far as school goes...can your pediatrician write a letter to cover your son

from excessive physical activity, or at least have it worded so that if your son

asks to rest he is allowed to? My sons handwriting is atrocious too...ask

permission for an alpha smart/Neo to use...that should solve that issue. The doc

should be willing to provide documentation that this is all being done

proactively pending test results with a suspected diagnosis of CMT.

Just trying to think outside the box....good luck!

>

> Hi all, how is everyone? Just have to get this off my chest and I will be OK

again. So here's the story.

>

> Every Jan/Feb I see my neurologist. In Jan 2009 I asked about getting the

kids tested. I was told to have my family Dr. make a referral to the

specialist. That took a few months and then got the appointment in Jul. He

looked at them and ran the usual touch tests, and ran strengh test. I was not

letting them do an EMG on them. I asked for the just the DNA test if he thought

they had it. After seeing them both he figured that they had is and ordered the

blood tests. We went and got the done same day.

>

> Now, they go the results a couple of months back, end of Aug beginning of Sep.

They called to make an appointment in Dec. I asked for the results then and

told that they do not do that over the phone, bla bla bla. I said ok we hung

and then today I get a letter stating the appointment has been pushed for Jan.

I called right away, as I ticked off. I want the results, still got the same

answer from the admin. I let lose then, telling them they have no idea what it

is like waiting. I just want to talk to the Dr, why is that so hard sometimes.

They almost make it impossible sometimes hoping you will go away. I need to talk

to the school, as my boy is starting to have issues on the playground, kids

teasing etc.... His writing is horible and they just stated on his report card

(we got today of course) that he needs to improve writing etc....

>

>

> Anyways, I am beside myself at the moment. I know it will all work out, but

this is just crazy. They know the result, and I have a right to knpw. Thanks

for listening.

>

> I fell better, :-)

>

>

>

> Matt

>

> Canada

>

>

>

>

[Guest guest]

Thanks for the suggestion. Athena we don't have though. Our DNA lab in

Canada is in Ottawa. We use to have to send it to the States but now it local,

well Canada local. :-)

I will have to do some research to see what an alpha smart/neo is.

Thanks again for the ideas. I will research them.

Matt

Re: DNA Test results for the Kids

Hi Matt -

Wow - I am so sorry you are having to go through this. My sons neurologist

personally called me with the DNA results the afternoon he got them. It seems

ridiculous to make you wait so long. Maybe you can go directly to the office and

get the report # and call Athena directly. I've done that several times since

our report just to ask questions and they've been most helpful. So - if the

tests were run by Athena it might be worth a try.

As far as school goes...can your pediatrician write a letter to cover your son

from excessive physical activity, or at least have it worded so that if your son

asks to rest he is allowed to? My sons handwriting is atrocious too...ask

permission for an alpha smart/Neo to use...that should solve that issue. The doc

should be willing to provide documentation that this is all being done

proactively pending test results with a suspected diagnosis of CMT.

Just trying to think outside the box....good luck!

>

> Hi all, how is everyone? Just have to get this off my chest and I will be OK

again. So here's the story.

>

> Every Jan/Feb I see my neurologist. In Jan 2009 I asked about getting the

kids tested. I was told to have my family Dr. make a referral to the specialist.

That took a few months and then got the appointment in Jul. He looked at them

and ran the usual touch tests, and ran strengh test. I was not letting them do

an EMG on them. I asked for the just the DNA test if he thought they had it.

After seeing them both he figured that they had is and ordered the blood tests.

We went and got the done same day.

>

> Now, they go the results a couple of months back, end of Aug beginning of

Sep. They called to make an appointment in Dec. I asked for the results then and

told that they do not do that over the phone, bla bla bla. I said ok we hung and

then today I get a letter stating the appointment has been pushed for Jan. I

called right away, as I ticked off. I want the results, still got the same

answer from the admin. I let lose then, telling them they have no idea what it

is like waiting. I just want to talk to the Dr, why is that so hard sometimes.

They almost make it impossible sometimes hoping you will go away. I need to talk

to the school, as my boy is starting to have issues on the playground, kids

teasing etc.... His writing is horible and they just stated on his report card

(we got today of course) that he needs to improve writing etc....

>

>

> Anyways, I am beside myself at the moment. I know it will all work out, but

this is just crazy. They know the result, and I have a right to knpw. Thanks for

listening.

>

> I fell better, :-)

>

>

>

> Matt

>

> Canada

>

>

>

>

[Guest guest]

Hi all, here is the final chapter.

I am sadden and excited to say they both have it. We did not chose to test my

youngest boy, he does not show any signs of the disease so far. I am excited

for them as I think it will help explain a lot for my 8 year old. He does not

understand why he cannot control his body sometimes. He just says " It just

happens Daddy, I don't know why " . Usually of course he is lying on the ground

at that point.

They are both taking it very well so far and I am also excited to say that I

think it has motivated them to watch themselves a bit more. My 11 year daughter

has always had pain in her feet and legs since she was much younger so I know

the orthotics will help. I think I will be ok now that I know we are doing the

right things for them.

I think I will anyways, I guess the really sad days will always be there but

many more of them are positive so its all good.

Now for the saddened part was the Dr. visit. He announced in his style they

were positive of Type 1A. He went through the usual stuff with stretches and to

exercise. I asked about extra school programs or any PT available for them at

school I just got a blank stare. When I asked about a letter confirming they

were positive I got asked why, he said yes once I finished. Once I challenged

him on why it took so long and the delay, I got the usual I am busy and he

actually got up and walked out on me and my whole family. My wife was in tears,

I was ready to scream it was crazy.

We had our orthotics appointment already and that Dr was wonderful with the

kids. Thanks god she came through for us the kids really fed off our the last

appointment and were scared, but they left happy. So all and all it ended up on

a positive note, but now I am unsure what to do about my neurologist. My

appointment with him is in Feb and I am not looking forward to it, that's for

sure. Guess I still have a bit of time to think about it.

Take care all,

Matt

Canada

Re: DNA Test results for the Kids

Hi Matt,

I know the " wait " makes people nuts. Since you're in Canada, your health

system is different than here (U.S.) but perhaps if you write a letter to the

doctor and ask for ALL of your son's records, you will be verifying who you are

(the father). Doctors here don't give results over the phone, I had to write

letters to my docs just to get copies of all tests and reports - for my personal

files. These docs were in private practice, however, and not connected to a

University/teaching center. But it's worth a shot in writing, because you may

need to help your son with some adaptive aids, etc.

Gretchen

>

> Hi all, how is everyone? Just have to get this off my chest and I will be

OK again. So here's the story.

>

> Every Jan/Feb I see my neurologist. In Jan 2009 I asked about getting the

kids tested. I was told to have my family Dr. make a referral to the specialist.

That took a few months and then got the appointment in Jul. He looked at them

and ran the usual touch tests, and ran strengh test. I was not letting them do

an EMG on them. I asked for the just the DNA test if he thought they had it.

After seeing them both he figured that they had is and ordered the blood tests.

We went and got the done same day.

>

> Now, they go the results a couple of months back, end of Aug beginning of

Sep. They called to make an appointment in Dec. I asked for the results then and

told that they do not do that over the phone, bla bla bla. I said ok we hung and

then today I get a letter stating the appointment has been pushed for Jan. I

called right away, as I ticked off. I want the results, still got the same

answer from the admin. I let lose then, telling them they have no idea what it

is like waiting. I just want to talk to the Dr, why is that so hard sometimes.

They almost make it impossible sometimes hoping you will go away. I need to talk

to the school, as my boy is starting to have issues on the playground, kids

teasing etc.... His writing is horible and they just stated on his report card

(we got today of course) that he needs to improve writing etc....

>

>

> Anyways, I am beside myself at the moment. I know it will all work out,

but this is just crazy. They know the result, and I have a right to knpw. Thanks

for listening.

>

> I fell better, :-)

>

>

>

> Matt

>

> Canada

>

>

>

>

[Guest guest]

Hi Matt,

You have a great out look and staying positive is the way to go. With all of the

research going on CMT is the disorder to have right now. I am excited that I

will live to see a treatment for my kids. I bet you are too.

>

> [Non-text portions of this message have been removed]

>

[Non-text portions of this message have been removed]

[Guest guest]

Hi Matt,

Well now you know. And remember, knowledge is power! And you have all of us and

thousands of posts and files and other info at your fingertips.

As for the Dr. wow, he sure was an " asslekof " as we say in Art History (in

German it means 'Ass Head'). (Picture half man/half donkey) Keep pressing him

for the letter you need. If you have to write him a letter and ask for it. Leave

messages on his voice mail. If you haven't got it by your apt. in Feb. make that

#1 on your list for the agenda, and #2 his bedside manner and attitude. Be

polite, but be firm, do not back down and get what you want.

Yes, docs have papers and reports and letters to write - whine whine

whine...they get it done. Maybe you could write a draft of what you want him to

put in the letter and bring it with you, then give it to him. I did this about 5

years ago, the doc used the exact same wording I had written in my draft, he

just had to change the date and sign his name (docs have staff that write most

letters, now here, PA's are writing letters too)

Gretchen

> > I fell better, :-)

>

> >

[Guest guest]

Hi Matt.....Some days I do not understand why some doctors are so arrogant and

act like God. This is your life and diagnoses.

The test results are indeed yours no matter what the doctor may think. You

should have access to your medical files anytime.

I had DNA testing done in 2000 which confirmed I had CMT1A. I chose not to have

my 11 year old son diagnosed. The term pre-existing

condition could/would be used against him down the road with insurance

companies.

I was actually sent a letter from the doctor who headed up the DNA lab at Credit

Valley Hospital in Mississauga, ON., confirming

I had CMT1A. This letter allowed my younger brother and sister have DNA testing

done for them. At least this is how it worked in

Canada. I live in Port Elgin, Ontario and my younger brother lives in Halifax,

Nova Scotia, while my sister lives in Saint , New Brunswick.

They both tested positive for CMT1A also.

I could use this same letter to have DNA testing done on my son some day down

the road. A letter from your dr. is important!!

Regards........

>

>

>

[Guest guest]

One of my twin daughters had the blood test and has been confirmed for CMT2d

w/SMAv.  The Athena Diagnostic lab and the doctor has approached us for all of

our family to be tested.  Her twin sister, myself, and my husband. They are not

charging us for the test ($15,000 is what my daughters test cost our

insurance).  I'm pretty sure part of the reason they asked us was because of the

fact that my daughters are the youngest to ever be diagnosed with CMT2d (or so

the doctor said).

I'm taking full advantage of this testing now so that the girls can have the

help they need in the future. In the US, with the healthcare reform bill, they

can no longer deny children for pre-existing conditions, which is nice.

 

Mother to Ashlee Rayne & Aimee Renae

_

>

>

[Guest guest]

Hi Dave and thanks for the comments. I don't know why some times they act like

that. He even called it the " nuisance disease " . That one is going to sit

negatively with my wife and I for a long time, long time. I have never seen a

Dr. act this way at all. I had a feeling he might too, so I even approached it

all with " kid gloves " as to not try and upset him. I might just ask for a copy

of the kids files and try and find another Dr. Its been tough around here

lately but the light is getting bigger. I am meeting with the school on Monday

next week to go over an information session and my daughter is very active in

trying to help out so I am pleased about that.

We did the insurance flip flop as well and finally decided to get them tested.

The last insurance I applied for I was accepted and I had CMT down. I also got

declined for Insurance at the same time from another company so I lucked out

that time. I live in Hamilton, Port Elgin is a beautiful spot. My wife is from

Owen Sound. We vacation on Lake Huron most summer's, usually more south though

except for the year we went camping at Macgregor Point.

Thanks

Matt

>

>

[Guest guest]

Hi Matt:

I 'm followed by Steve Baker at the CMT Clinic at McMaster

and I think they could help with testing if needed. It costs the

patient nothing in Canada. Baker seems to be interested in children

with CMT.

During my years of working with people who have CMT and reading

research, I've heard CMT called just a nuisance several times. If your

doctor only read one or two paper on it a long time ago, he still

thinks that's the way it is described and he believes it because it

was in the journals...maybe in 1968. He needs to update his reading

and understanding of CMT big time. You might send him some titles he

can read at his leisure.

Dr. Baker listens but he only wants to see me every two years and

that's because it's his call and he's following me not because he is

my CMT specialist.

I always have the feeling that once you're diagnosed with CMT, you're

of no interest to neurologists. A physiatrist might be more interested

in what's going on with us although I did find one who wasn't really

interested either.

I've had doctors like that who blew off CMT. I didn't stay with them

long.

It's a long and winding road. Hang in there. Celebrate the triumphs

and move on from the disappointments.

Cheers!

[Guest guest]

Hi Matt......prior to moving to Port Elgin in 2000 I lived in town, ON. My

family doctor at the time worked closely with me and sent me to see a

neurologist in the Credit Valley Medical Centre. The neurologist's name is Dr.

Isralian. He had arranged to have EMG/NCV tests done. He popped in to see how

the tests were going and took over from the nurses. He seemed excited, he

grabbed my foot to look at my high arches and said I know what you have. He

arranged to have DNA testing done which proved positive for CMT1A. I was

saddened to find out my GP at the time in town now has ALS. Dr. Jean

Charcot was also responsible for discovering ALS.

I now have a great GP in Port Elgin, who actually did a study on the

effectiveness of Gabapentin vs. Tylenol 3. I now have a super specialist

(pethorist) in Owen Sound who sees me every 6 months. He has shown an interest

in me which could be good or bad? He is the focal point for all the various

medical disciplines. He and his colleague did NCV on my phrenic nerve which is

involved with my diaphragm.

My point WRT insurance is not what you may be thinking. Let's say you are

working for a company who provides you with a long-term disability benefit.

These long-term disability insurance carriers just love to use the pre-existing

condition to get out of approving your claim. If this is is your medical file

then you may be in for a fight some day. Therefore I did not have my son

diagnosed.

Sorry for the diatribe............

>

>

[Guest guest]

Hi , my wife's best friend from Owen Sound lives in town. We go down

for the fall fair every year. Sorry to hear about your GP. Your story fits

about how you found out is about the same as mine. My Dr. then Mark Tarnapolsky

diagoised that I had CMT. Same thing he took one look at my foot and then sat

down and talked to me for 45 minutes. He ordered DNA same day, the crazy part

was 5 year prior to this I was seen by another Neurologist who knew nothing of

CMT. He said I had mild nerve degeneration but did not diagnose me, he was the

one that did my EMG. Mark mentioned EMG and I told him the results from 5 years

prior confirmed it even more for him. Sure was nice back then to know why I was

different then everyone else.

Thanks for the bit on the Insurance, did not look at it from that point of view.

Always seem to find ways to make it work out for everyone but the customer :-).

Thanks

Re: DNA Test results for the Kids

Hi Matt......prior to moving to Port Elgin in 2000 I lived in town, ON.

My family doctor at the time worked closely with me and sent me to see a

neurologist in the Credit Valley Medical Centre. The neurologist's name is Dr.

Isralian. He had arranged to have EMG/NCV tests done. He popped� in to see how

the tests were going and took over from the nurses. He seemed excited, he

grabbed my foot to look at my high arches and said I know what you have. He

arranged to have DNA testing done which proved positive for CMT1A. I was

saddened to find out my GP at the time in town now has ALS. Dr. Jean

Charcot was also responsible for discovering ALS.

I now have a great GP in Port Elgin, who actually did a study on the

effectiveness of Gabapentin vs. Tylenol 3. I now have a super specialist

(pethorist) in Owen Sound who sees me every 6 months. He has shown an

interest� in me which could be good or bad? He is the focal point for all the

various medical disciplines. He and his colleague did NCV on my phrenic nerve

which is involved with my diaphragm.

My point WRT insurance is not what you may be thinking. Let's say you are

working for a company who provides you with a long-term disability benefit.

These long-term disability insurance carriers just love to use the pre-existing

condition to get out of approving your claim. If this is is your medical file

then you may be in for a fight some day. Therefore I did not have my son

diagnosed.

Sorry for the diatribe............

>

>