Status
Not open for further replies.

rocmg

Distinguished member
Joined
Dec 29, 2008
Messages
388
Reason
PALS
Country
UK
State
N/A
City
N/A
hi all. she of the many questions returns to post again.

my mum and i were talking and she said that somewhere along her father's family tree, someone had something that was thought to have been kennedy's disease (vague, i know, bear with me though). i know this is a long shot, and i'm not trying to be a smart ass since i do believe that the neuros mum and i have spoken to are excellent at what they do. but neither of them suggested doing any bloods or DNA testing or anything other than a clinical observation. mum had one emg, and it was inconclusive.

obviously when you have a world class neuro diagnosing you, i guess you just accept what they have to say. but i was just wondering if it's particularly odd. i'm not getting my hopes up here, but would like to hear what any of your have to say on the subject.

god bless.

oops... editing because i just wanted to know if testing for genetic disorders is standard before making an ALS diagnosis. that's it in a nutshell really.
 
Last edited:

Zaphoon

Extremely helpful member
Joined
Aug 2, 2008
Messages
2,855
Reason
DX UMND/PLS
Diagnosis
08/2011
Country
US
State
Missouri
City
Springfield
Bloodwork, bloodwork and more bloodwork is usually the order of the day during a "rule out all else" scenario. There is a point where the doctors will stop with the bloodwork and that point is usually when they are convinced they have the diagnosis correct and there is no further need.

Some things aren't tested for because they don't fit the puzzle. Kennedy's may not fit this puzzle and there could be something that pointed the doctors away from it if they chose not to test for it (my guess...).

Zaphoon

P.S. Somebody spank me if I'm wrong. Not that I'm in to spanking.........
 

rocmg

Distinguished member
Joined
Dec 29, 2008
Messages
388
Reason
PALS
Country
UK
State
N/A
City
N/A
thanks for your comment, Zaphoon.

Mum has had no bloodwork done at all. I'm in the midst of getting her a referral to John Hopkins for a third opinion, even though we are pretty sure what we're dealing with. Still, if it's a genetic motor neuron disorder, it sure would be nice to know -- so we're anxious to have the bloods done.

Things with both neuros were pretty cut and dry. They seemed content to make a diagnosis on clinical findings alone. Although, lots point to ALS, some things don't quite fit. My mum doesn't have fatigue, still walks (although hikes is more appropriate) approx 4 miles a day with her dogs, and has done for as long as I can remember. Her only real problem is her speech and weightloss (11 lbs since xmas, but that is because she feels nauseous when she tries to eat. total loss of appetite that i'm marking down to stress,)

It seems like the anxiety of having ALS is having a worse affect on her than the condition itself.
 

Zaphoon

Extremely helpful member
Joined
Aug 2, 2008
Messages
2,855
Reason
DX UMND/PLS
Diagnosis
08/2011
Country
US
State
Missouri
City
Springfield
I'm with you on getting another opinion. I've heard a lot of good things about the doctors at Hopkins. I also think it is odd that the diagnosed was given without bloodwork being done.

Keep us posted!
 

rocmg

Distinguished member
Joined
Dec 29, 2008
Messages
388
Reason
PALS
Country
UK
State
N/A
City
N/A
thanks Zaphoon. We're aiming to head out there some time in April.

The good news from neuro #1 was that he thinks mum's condition is"slow moving" since her speech pattern has remained much the same since October. We're hoping for a 25-30 year plateau :D
 

Danijela

Senior member
Joined
Dec 3, 2008
Messages
663
Reason
PALS
Diagnosis
11/2008
Country
UK
State
UK
City
Bolton
Blood test are normally used as a way of checking for other possible conditions, mimicking ALS/MND. I thought it was pretty standard to have them done. They are routinely done in the UK.
 

Jennifer51

Distinguished member
Joined
Jul 7, 2008
Messages
441
Reason
PALS
Diagnosis
03/2008
Country
UK
State
England
City
London
I know where you are coming from. When I was being diagnosed and went for a second and third opinion, I did bring up Kennedy disease.. I was hoping to prove that I had anything other than bulbar. The two neuros I saw both said no immediately, and to be fair it is normally males who get it and females who carry it..unless I am mistaken. But just at looking how I presented they said without doubt..no.
 

strikeout

Distinguished member
Joined
Dec 4, 2007
Messages
178
Country
US
State
NJ
City
Brick
rocmg,
Yes, blood tests for everything mimicking ALS are usually the norm. My husband had blood work done for Kennedy's disease. It was done separately with a nurse coming to the home. I hope you are able to get her into Johns Hopkins. Another opinion certainly can't hurt.
God Bless
 

Shatzie

Active member
Joined
Nov 12, 2007
Messages
86
Reason
PALS
Diagnosis
02/2008
Country
US
State
OK
City
Tulsa
I would insist to a neurologist to do the blood test to rule out Myasthenia Gravis, if there has been no blood work done. That is what my new neurologist now thinks I have and for 85% of MG patients, it shows up on a blood test. As for me, it looks like I am sero-negative and I was diagnosed with bulbar ALS initially. I am surprised that they haven't done blood work yet in your mum's case. I had three different doctors do three different extensive sets of blood tests, before they went to any other tests like EMGs etc.
 

crystalkk

Very helpful member
Joined
Sep 11, 2007
Messages
1,210
Reason
Learn about ALS
Country
US
State
pennsylvania
City
philadelphia
Most of the time gentic testing is only done if something runs in the family. Did you let the nuero know about the Kennedy Disease?
 

tag0620

Distinguished member
Joined
Nov 18, 2008
Messages
175
Diagnosis
11/2008
Country
US
State
ut
City
park city
We never had blood work done before my husband's diagnosed and now we're thinking it could be an infection....we started to have blood done on our own through our GP...none of the specialists wanted it until we finally got in with infectious diseases.

I feel it's irresponsible to not test everything.
 

brendapals

Senior member
Joined
Jul 6, 2008
Messages
953
Reason
PALS
Diagnosis
06/2008
Country
US
State
any
City
any
[
The good news from neuro #1 was that he thinks mum's condition is"slow moving" since her speech pattern has remained much the same since October. We're hoping for a 25-30 year plateau :D[/QUOTE]

I love the 25-30yr plateau! I always brag about being the PALS that bought the 30yr warranty!

God is good!
 

BarryG

Extremely helpful member
Joined
Nov 19, 2008
Messages
2,981
Diagnosis
02/2008
Country
CA
State
Alberta
City
Hinton
Hello rocmg; every doctor that I've talked to has told that the ONLY real way to give a diagnosis of ALS is by ruling out every other possibility. Because there are blood tests for diseases with similar symptoms I can't imagine not having them done as the first thing before giving any diagnosis. Myasthenia Gravis was the first thing that my neurologist thought of and I had a lot of increasingly specific blood tests before I was given my diagnosis.

I also took out the 30 year plateau warranty and I'm gonna be like the energizer bunny until it runs out!
 

Jennifer51

Distinguished member
Joined
Jul 7, 2008
Messages
441
Reason
PALS
Diagnosis
03/2008
Country
UK
State
England
City
London
when I first saw my neuro, he was convinced that I had bulbar, which was right. The first thing he did was to order a ton of blood tests, I think it was between 12 and 20, lost count. I had an MRI done as well straight away. Then when the blood tests were in, went on to the emg, ncv and spinal tap. I think the thinking is that they do the pretty standard taking of blood, to rule out so many other things and to make sure you really do need the more invasive emg and spinal tap.
 

Valya

Distinguished member
Joined
Sep 28, 2008
Messages
127
Reason
Other
Country
US
State
TX
City
Austin
My son has had a slew of blood tests. He was negative for all, only ones I can remember off top of my head are Kennedy Disease and heavy metals. SOD1 was negative also, so they took more blood to test for ALS2 and ALS4. Haven't heard back on those yet.
 
Status
Not open for further replies.
Top