Procainamide

[amym]

My father has been emailing Dr.Brugada & he wants my mom to do the test with the Procainamide. She doesnt really have very good insurance so it was suggested that we kids do the test. Im pretty nervous about anyone in my family having the test after what happened to my mom.

I guess I should explain a little. My mom had a hip surgery was recovering fine. 2 days later she was doing good and they wanted to send her home. she said she wasnt ready cuz my dad didnt have the house set up..(actually this is pretty long & detailed!) soo..Im sitting in her hospital room with her & she was mid sentence & she started sucking in air. At first I didnt know what was happening I jumped up looked at her. Her body was really tense & her eyes were rolled up.So I ran out in the hall & started screaming. I just yelled help me someone help me I dont know whats happening. All these people rushed in and were yelling her name " Linda Linda can you hear us Linda" and I was in the room.I was freaking out & all alone. i called my dad & told him to come right away cuz I didnt know what was happening. I thought she was having a seizure or something. So then they are calling code blue and everyone starts coming finally a nurse moved me down the hall I called my sister & she was praying with me on the phone. A nurse came up & said they were working on her & that they were gonna move her to the icu. So then my brother & my dad got there. i just hugged my brother & cried. I didnt know what had happened & i didnt know if she was going to make it or if she would be a vegetable or what you know. i just kept thinking...is that the last time I was going to see my mom?
(Sorry if this is too much detail) so anyway they made us stay outside her room for awhile while they stabilized her. Finally they said we could go in. I let my dad, brother, & my moms best friend go in first cuz I was scared. Finally i went in & she held my hand & jokingly said "Well I guess Im not as healthy as they think i am" wow it was crazy I was like I guess she must be ok if she is making jokes. Then they took her to the icu & we had to go in the waiting room. It took a long time before we knew anything more. We went to the doors a couple times & they said we had to wait. Finally someone came & talked to us & said that she had had several more "episodes" so they wanted her to be stable before we could go see her. We didnt really know what episodes were. They didnt really know what was happening either.For a long time they thought that it was a blood clot. They kept changing her medicine but medicines quit working. Around 11pm we thought she was doing ok...so my brother & my dad stayed with her & my sister & her family & I went home to sleep for a little bit. I layed down & right as I fell asleep my brother txted me & said she had another episode. My brother-in-law(a cardiac rn) & i decided we were going back to the hospital to get something new to happen. He thought it was a heart problem all along.So finally around midnight they transferred her to the cardiac hospital by ambulance. They did an angiogram & said there were no clots. Her heart was as healthy as a 20 yr olds. So then we didnt know what to think. My brother-in-law thought she should get a defibrillator. So the next day the doc said they thought she had brugada syndrome. So what happened to her was that the top of her heart would stop pumping & the bottom would beat crazy fast they called it fluttering. So anyway she didnt have anymore episodes after the angiogram. they got her on the right meds(quinadine) after that. so the following tuesday they put in a defibrillator/pacemaker.

so when she had an "episode" they had to shock her. We originally thought they had shocked her like 12 times. Turns out her chart said 32 times! she had burns on her chest & back. The weird thing was she was totally coherent during all this.

SO you can see why Im scared. Im scared everyday that myself or my siblings could have something happen. I dont know how anyone deals with all this!

Have any of you done any of the tests like the Procainamide? Any advice?

Thanks for reading this :)

Amy

[amym]

no thoughts???

[Keit]

Hi Amy,

Wow, your family is really having a rough time, to put it mildly. This is difficult for us since we can only answer based on personal experience. Our doctors often disagree on treatment and even on the diagnosis. The FAQ post by Chas is an excellent overview.

viewtopic.php?f=2&t=656

Check out my post "Low Risk...." for what I've learned about BrS.

viewtopic.php?f=2&t=501

The drug challenge and electrophysiology studies are used to confirm a BrS diagnosis, often while waiting for genetic test results. I wouldn't have them for fun but they aren't unpleasant. Unfortunately, if the tests are negative it doesn't mean you don't have BrS. They're positive if they're positive but not necessarily negative if they're negative. I know, that doesn't make sense and it doesn't help. This is also why the tests are not necessarily good indicators of potential risk. Genetic testing can be a great help if your family has an identified gene. Unfortunately, all the genes involved haven't been identified yet so sometimes it's inconclusive. This disease is still so "new" that your doctor's experience with it is vital.

Genetic testing can be done free through Dr. Brugada and MMRL in New York but both can take a year or longer for results.
http://www.mmrl.edu/index.asp

The Familion lab in Connecticut is faster and many insurance companies cover it. Call the lab directly with any questions, they're very helpful. They also have a Patient Assistance Program. The first family member's test costs $2700 but the clinic where your blood is drawn might charge something to draw and send the blood sample. It can take about 3 months for the results to come back. If they find the gene mutation, the family is assigned a reference number and other family members must include that number with their samples. This allows the lab to look for the family specific mutation which is faster and less expensive; 3-6 weeks and $900.

If your doctor and local lab are not familiar with the procedure the lab has kits that they will send.
http://www.pgxhealth.com/familion/

PGxHealth
Five Science Park
New Haven, CT 06511
Customer Service: 1-877-2-PGXHEALTH (877-274-9432)
Fax: 203-786-3418

info@pgxhealth.com

I wish I could be more help. It's been 1 ½ years since our family got the diagnosis. I remember vividly the feelings you're having now. I had testing but no help for 6 months so I was a complete basket case! The big thing is to make sure you have confidence in your doctor. Read as much as you can and listen to your gut feelings. I'm so glad your mom is ok now. Hang in there!

Keit

[Chas]

Hi Amy and welcome to the forum.

I think that Keit has covered most things and I would agree that the most important thing you can do is find a doctor with experience of BrS and who you feel you can trust, and as she says do your own research so that you can discuss the option with them.

There is no way to know for sure but, from what you describe, it may be that your mothers symptoms could have been triggered by the medication or anaesthetic that she received. BrS is still relatively new and uncommon and by no means fully understood. Check www.brugadadrugs.org and be cautious about any medication until you have a diagnoses.

The drug challenge with Procainamide, Flecanide or Ajmaline etc is probably the quickest and best way of screening in the short term as it picks up about 80% of cases whereas genetic screening can expensive, sometimes slow and only finds about 20% of cases. As Keit says it is not unpleasant and reasonably safe provided a doctor is present for the very rare case where the drug can induce arrhythmia.

[lorilittlemom]

Im so sorry for what you have been going through! Both my children have had the procanine test (EP study) done. (ages 11 and 13) You can also blood test for Burgadas. (but it is expensive)