Aa
Compound Heterozygous MTHFR and Positive Cardiolipin Antibody Screen
Ok...most of you know my story and that I am in limboland still. I had my second opinion and she recommended some further blood work to check for factors that could contribute to stroke (not a fun word to hear) but I didn't think much of it given my "pin cushion" mentality these last couple of months!
To mine and my neuro's surprise, I tested positive for the "compound heterozygous for the mutations of C677T and A1298C in the MTHFR gene. Fairly common (40-50% population to have one or both but not so much to have it be compound...coming from two parents who were "mutated") My mom loves that...LOL. High risk for stroke, thrombosis, and other vascular issues...sounds yucky!
I also tested positive to the Cardiolipen Antibody Screen which is often an indicator or an autoimmune disease. So...now the neuro does not even want to touch me until I am seen by a hematologist to see if the scaring in my brain could be a result of small strokes or other blood/gene related issues.
I feel like I am starting all over again! Neuro is not ruling out MS but wants to see what this is all about before moving forward in any way. This is all so frustrating and I'm not sure what is worse to be honest. I'm 31 years old...are we really considering many, many small strokes???
Anyhow...just wanted to see if any of you have had this testing and if you had similar results...or complete opposite.
Again...I feel like I'm starting from square...3 (because I have my MRIs, my hospital visit and now this)...ugh!
Hope you all are doing well:)
Kim
To mine and my neuro's surprise, I tested positive for the "compound heterozygous for the mutations of C677T and A1298C in the MTHFR gene. Fairly common (40-50% population to have one or both but not so much to have it be compound...coming from two parents who were "mutated") My mom loves that...LOL. High risk for stroke, thrombosis, and other vascular issues...sounds yucky!
I also tested positive to the Cardiolipen Antibody Screen which is often an indicator or an autoimmune disease. So...now the neuro does not even want to touch me until I am seen by a hematologist to see if the scaring in my brain could be a result of small strokes or other blood/gene related issues.
I feel like I am starting all over again! Neuro is not ruling out MS but wants to see what this is all about before moving forward in any way. This is all so frustrating and I'm not sure what is worse to be honest. I'm 31 years old...are we really considering many, many small strokes???
Anyhow...just wanted to see if any of you have had this testing and if you had similar results...or complete opposite.
Again...I feel like I'm starting from square...3 (because I have my MRIs, my hospital visit and now this)...ugh!
Hope you all are doing well:)
Kim
Thank you all for your comments! I guess it's just another opportunity to learn about my messed up body...LOL. It does "stink"...not my body...the issues! :)
I have an appointment with a hemotolagist next Wednesday so that should be interesting. I will be sure to keep you posted.
Thank you again for your support!
Kim
I have an appointment with a hemotolagist next Wednesday so that should be interesting. I will be sure to keep you posted.
Thank you again for your support!
Kim
Well good and bad really. At least someone is fighting your corner. Its best to make sure they are on the right track, dont forget you can have more then one disease if you just feel greedy LOL LOL.............
I think everyone has posted wise answers. My brain is just poopy at the moment i try to answer but the words dont come lol.
xx
I think everyone has posted wise answers. My brain is just poopy at the moment i try to answer but the words dont come lol.
xx
I don't have anything to offer you, really, except for my empathy for your situation. This kinda sux, huh?
At least your neuro is working really hard to figure this thing out. Better to know for sure what your dealing with than to be miss diagnosed or to miss something critical like this.
Blood clotting disorders are not something to be messed around with, not that MS is, but blood clotting disorders can cause some serious problems. (not trying to scare you!)
Do you have any immediate appts set up? Or do they know what your next course of action is and when?
Keep us updated and let us know what becomes of all this! Really sorry that you have to go through all this, but I'm glad that your neuro sounds like he/she is on top of everything!
Take care and sending gentle hugs your way!
Sarah
At least your neuro is working really hard to figure this thing out. Better to know for sure what your dealing with than to be miss diagnosed or to miss something critical like this.
Blood clotting disorders are not something to be messed around with, not that MS is, but blood clotting disorders can cause some serious problems. (not trying to scare you!)
Do you have any immediate appts set up? Or do they know what your next course of action is and when?
Keep us updated and let us know what becomes of all this! Really sorry that you have to go through all this, but I'm glad that your neuro sounds like he/she is on top of everything!
Take care and sending gentle hugs your way!
Sarah
I found this site while I was trying to understand something about your issue. It was interesting to see this doctor is from a small town close to where I grew up.
I don't know if this will be of any interest or help to you, but I did notice that he answered some patient questions in the middle of the night. That kind of impressed me.
http://mthfr.net/
I don't know if this will be of any interest or help to you, but I did notice that he answered some patient questions in the middle of the night. That kind of impressed me.
http://mthfr.net/
Sorry I hit some key by accident.
Cont'd
the risk factors can be controlled (to a degree).
There's a compound I'm looking into presently called Policosanol and its
cholesterol lowering properties, as a supplement to possibly help remedy the effects of homocysteine in the blood. It shows some promise.
Blessings to you and your family.
Niko
Cont'd
the risk factors can be controlled (to a degree).
There's a compound I'm looking into presently called Policosanol and its
cholesterol lowering properties, as a supplement to possibly help remedy the effects of homocysteine in the blood. It shows some promise.
Blessings to you and your family.
Niko
Hey Kim,
Well it seems at first that you're starting from square 3 as you put it.
However, I feel it is rather bringing your situation to some sort of a conclusion.
You will need a very good Hematologist as this is VERY delicate work!
This gene mutation affects negatively Homocysteine conversion in most cases. But even in the gene mutation patients where Homocysteine levels are normal this does not seem to exempt them from some of the same risks, such as thrombosis, arteriosclerosis and clotting.
There seems to be a strong connection to FMS with this type of mutation, however, there are no large scale clinical studies (that I have come across).
The good news is that there are many things that can be done.
Because of this mutation basically affecting folate conversion, the GREAT
news is that there's a lowered risk for cancer as folate is needed in cancer growth (cellular division).
Let me know if you need more details. I have some notes back home
that I can look up from my cellular medicine studies. Presently I'm still in Toronto, after spending 3 weeks in Europe, and honestly it feels that I'm living out of a suitcase. So it won't be till the weekend
Hang in there, things are not as bad as they seem sometimes. Some risks may be ellevated, but with a comprehensive preventive program, targeted supplementation and a strengthened immune system ,
Well it seems at first that you're starting from square 3 as you put it.
However, I feel it is rather bringing your situation to some sort of a conclusion.
You will need a very good Hematologist as this is VERY delicate work!
This gene mutation affects negatively Homocysteine conversion in most cases. But even in the gene mutation patients where Homocysteine levels are normal this does not seem to exempt them from some of the same risks, such as thrombosis, arteriosclerosis and clotting.
There seems to be a strong connection to FMS with this type of mutation, however, there are no large scale clinical studies (that I have come across).
The good news is that there are many things that can be done.
Because of this mutation basically affecting folate conversion, the GREAT
news is that there's a lowered risk for cancer as folate is needed in cancer growth (cellular division).
Let me know if you need more details. I have some notes back home
that I can look up from my cellular medicine studies. Presently I'm still in Toronto, after spending 3 weeks in Europe, and honestly it feels that I'm living out of a suitcase. So it won't be till the weekend
Hang in there, things are not as bad as they seem sometimes. Some risks may be ellevated, but with a comprehensive preventive program, targeted supplementation and a strengthened immune system ,
You must join this user group in order to participate in this discussion.
You are reading content posted in the SURVIVING NEUROLOGICAL LIMBO LAND - NO DX Group
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Herpes sores blister, then burst, scab and heal.
Herpes spreads by oral, vaginal and anal sex.
STIs are the most common cause of genital sores.
Condoms are the most effective way to prevent HIV and STDs.
PrEP is used by people with high risk to prevent HIV infection.
