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Has any one questioned the reliability of the Genetic Testing? My experience was quite drawn out and I am not sure of its accuracy. They sent the results to the wrong doctor and we have been working for months on getting more than the basic results. My doctor told us that other parents are questioning the reliability of the test because of the way it was administered. Has anyone else had similar experience?
Exercise Arrhythmia Counseling Atenolol Propranolol Anxiety Long QT syndrome Beta blockers Pacemaker Stress
Hi ~ I read your bio and my son, Chris is 16, and he was just told he could have possibly LQTS by having an abnormal EKG and an abnormal exercise stress test. My question to you is how are you tolerating the beta-blocker? Chris is very hesitant to start it (to begin with, he doesn't like taking any kind of medication ). The cardiologist told him he can take gym next year but nothing strenuous and that if he gets tired he needs to rest. What company are you working with as far as the genetic testing? Any input you can give us would be appreciated.
We're going threw Familion with our genetic testing. My 2 year old has been on beta blockers, for LONG QT and it has taken FOREVER to get the test results, they recently found a 8th mutated gene, when we submitted the blood work back in march they only had 6 genes. So far we have partial results, positive for Type 1. They did a stress echo on her and I. (I don't know how they thought a 2 year old would cooperate on a treadmill) but I started beta blockers today as well. I slept most of the day, starting tomorrow I'll take them at night. As far as the testing goes, I'm confident in the answers, just frustrated with how long this has taken, it was supposed to be 6 weeks, we're on week 13 now still waiting for a final report.
I'm not a medicine taker myself, I think as long as your 16 year old takes it at night he should be okay for school. As far as sports go, I was on the swim team for 8 years, and fainted in the water when I was 16, I'd stay away from straineous activities, anything putting his heart rate over 150 bpm for long periods of time.
If you don't mind me asking how much is it for genetic testing through Familion and can you explain Type 1?
As far as beta blockers go, I have experienced some side effects such as dizzyness, orthostatic hypotention, fatigue. I was first on Atenalol and then switched over to Toprol because of the side effects but nothing has seemed to change much. With Toprol there are not really any high and low energy fluctuations like with Atenalol but there is still some fatigue.
My genetic testing was through Familion and it was $5,400.00. Our insurance did not pay and said it was too experimental. For us it took 6 to 7 weeks for the results to arrive. You may try Mayo Clinic in Minnesota for a genetic test because many want to redo the test after going through Familion.
Initial screening test was $5400.00 each additional family member is $800.00 our insurance (military insurance) paid for it all. As far as what the types mean, there's 8 mutated genes that cause Long QT, they're catergorized into 3 types, type 1, 2, and 3. Each type has different treatments that work better. Type 1, is treated with beta blockers, and defibulator implanted into the heart. Type 2 is dual pace makers, and beta blockers. Type 3 they take nerves out of the heart, and i presume beta blockers as well. If you don't have insurance and they think you're at risk for long qt you can talk to your doctor about genetic testing and the lab company to work with you. Some doctors, especially pediatric heart doctors recieve donations from sponsors to help families that are low on income but need vital things, such as genetic testing. The genetic test is the only for sure way to know you have a mutated gene/ dna causing the long QT. Other than that, ekg's and holter monitor's vary. My daughter's ekg numbers change in every one taken. Her average QTc is 467, but it's been as high as 542 and as low as 412. But the genetic test confirms she has it, and it needs treated. My ekg's vary too, my first one was 467 for my QTc and my second one was 398. My stress echo put me at 540. So I got started on beta blockers this week, and if they don't help, i'll also have a defibulator implanted. Different doctors have different standards as to what is Long QT on a ekg. our first doctor said anything over 450, second doctor said anything over 500, and 3rd doctor has said anything over 470. What has your ekg shown? And what lab co. are you going threw for genetic testing, I believe there is only 2 here in the states, one in Arizona and one in Conneticut, we went threw the one in CT. It used to be called Geniusses or something, and now it's Familion. they have a web site, you can google it to get more info. Also you can participate in clinical research which may help pay for the genetic testing, if the cost is to high for you.
Wow, you are very knowledgeable.... my first EKG showed QTc of 462, the 2nd EKG showed 486. On my stress echo the QT actually shortened with exercise (I don't have the #) and my doctor said "I have the good kind", but he said that if I did do genetic testing he would bet money on it that I have one of the mutated genes. My older 2 sisters have long LQ and my older brother. My father died at 45 of sudden death and he had a brother that died at age 50 of sudden death, and his other 2 brothers died in their 30's of suden death. My mother was 62 when she died of sudden death, but interestingly they think that she was startled by the doorbell which caused her sudden death; however, she was a bit older. My father had 5 sisters who died later on in life of sudden death. My niece has long QT. The other nephews (5 of them) have not been tested yet, just my son, who has had abnormal EKG (#'s I don't have yet of the EKG or the Holter Monitor or stress test). I just know they were abnormal and his cardiologist put him on a beta blocker (he's not taking it yet). My doctor put me on a beta blocker for the long QT but I have high blood pressure so the beta blocker is for dual purposes. I have not checked out anything yet from the lab companies for genetic testing. I may look into Familion but we just don't have 5400.00. I would be interested in participating in clinical research. Do you know of anyone doing clinical research? I have been googling but I am not finding anything? We were also told that genetic testing could come up with a false-neg response. I have also read from ScienceDaily (source was from Mayo Clinic) that researchers have discovered overdiagnosing long QT syndrome.... it's nothing clear-cut.... Does any of your family members have long QT?
Hi there, I have a son who has recently been diagnosed too! He is also 16. We had both of my kids tested after I was diagnsoed with LQTS 7 mos ago, my heart stopped in the middle of the night. He is taking corgard, a beta blocker. he has had some dizzyness and is tired most of the time. but then I dont know a teenage boy that doesn't apply to. We have not done the genetic testing due to cost, however I have signed up for the study out of Rochester because i have an ICD. I haven't heard form them in a while. guess i will have to track them down. you can email me and i will connect you to my son if you need another friend w LQTS.
Hi ~ how was your son tested, what kind of tests? We would like to do the genetic testing, but it's too expensive; however, we would like to participate in a study. Can you give me information about the study out of Rochester? Does anyone else in your family have LQTS (sisters, brothers, nieces, nephews)?
Both my son and daughter went to cardiologist and were tested after I was diagnosed. They found his QT to be long on a stress EKG. he has had many ekg done. His numbers werent as bad as mine. which are long at a resting ekg. I have 3 other siblings 2 of which have gone to cardiologist to be checked. my sister is borderline, and my brother doesnt have it at all. i have 1 brother that wont go to be tested. I am the first in my entire family (going back 3 generations) to present. It is possible that I am the first to have the mutated gene. my dad has also been tested and does not have it, and my mom is going to be tested later this summer. The info on the research study isnt in my binder. UGH! I must have put it someplace SAFE! I will have to look and get back to you. I hope this helps.
Sorry it took a while for me to reply. My daughter was born pre-maturely, she has a PDA and was being seen by a cardiologist. When she was 2 months old, her ekg showed her QTc at 452, so it was first brought to our attention then. When she turned 1 her QTc was at 467, and we were referred to a Electrophysiologist (EP) he started Kiera on Propranolol prior to ever seeing her, she responded badly as most 1 year olds would. She became lathargic and had trouble breathin, wouldn't eat or drink. So they took her off of them. We finally saw him, and he said he wont touch her again until she's 7. We weren't very pleased with that response. So I took the kids to Florida when my husband deployed. We saw Doctor Jorge McCormack, who is one of the best in the nation for Long QT, great doctor. He was able to get her back on Propranolol. She started on a extremely low dose she's slowly moving up to where she should be. He did a Holter test, showing she ranged from 418-518 on her QTc . He fought our military insurance to pay for the genetic testing. He pretty much did every test known to man that he could on her. We came back here to Kansas after 3 months and got a new EP, who is working with the one in Florida when it comes to Kiera. McCormack had told us 9/10 times it's genetically passed down, and did a ekg on me as well, mine was 467. High but low, so he recommended I get in with a cardiologist. i did go to one, where they informed me I have MVP and a murmur. They did a stress echo and I passed out after 10 minutes on it. I got referred to a EP, he's seeing both my daughter and I. He's going to do the genetic testing on me here shortly, he started me on Atenolol. He did another stress test on me, showing my QTc at 542 when i exercise. He prescribed us a at home defibulator for my daughter and I. She's also on that Life Saver Heart Monitor that records her ekg's. because she has passed out 3 times since january. Mainly from hissy fits. She just turned 2, and hers is sparked up by emotional stress, mine seems to be physical exercise. When I was 16, i was on the swim team for 8 years, and had fainted in the water, it went undiagnosed. They never did a ekg then, but assumed it was from over doing it. I never was satisified with that response, after 8 years of swimming over doing it on one simple meet didn't make sense to me. The doctors now think it's related with Long QT. As far as my daughter goes, they're trying to wait until she's about 6 to implant a ICD, just because if they do it now, they have to go in threw her tummy, then move it when she's 6 under her collar bone. That's 2 major surgeries for her. But if she passes out one more time, they have no choice but to do it then. Same for me, he told me if I pass out again, then Im getting one. I rarely work out, so I doubt it'll happen. They only reason I did this last time was because they made me run on a tread mill.
As far as the genetic testing goes, they haven't recognized EVERY gene that can cause it. But so far they now have 8 that they recognize, so yes it is true, that it may come up showing you have a abnormalty but they can't classify it into one of the 8 they know. My daughters was positive for type 1. Which makes it easier when they do mine, we use her referance number, and my son, my husband and I can all be tested for type 1. And it cost $800.00 this time around. Our insurance covers all of it. If you have insurance, your doctor can request the genetic testing done threw them, and with the right diagnosis code it can be approved. If anything, they pay half and you're responsible for the other half, which is still better than forking out the $5k your self.
My daughter is the first in my family to be diagnosed with it, I was second. My dad is thinking it comes from him. His entire family died before they reached 45 years old, of sudden heart attacks.My uncle passed at 29. He's had 4 himself, while in his 40's. My brother is also going to be checked out by a cardiologist. I'm thankful my daughter was dx. so early in life, because we've been able to control it and she's recieving good care.
Long QT Types 1, 2 and 3 are the most common types of the syndrome. Typical triggers (causing events) and treatments for each of these are as follows:
Type 1 - physical exertion is the most common trigger, particularly swimming. Most effective treatment is beta blockers. A pacemaker or implanted defibrillator (ICD) is typically only prescribed if the patient continues to have symptoms even on beta blockers OR they've had cardiac arrest.
Type 2 - startle or strong emotions are the most common triggers (alarm clock, phone ring, etc.). Typical treatment is beta blockers, thought research shows that Type 2 may not always react as well to beta blockers as Type 1. Again, if someone has had cardiac arrest or remain symptomatic on beta blockers, their doctor may suggest an ICD.
Type 3 - events typically occur at rest or during sleep when the heart rate slows. These patients do not do better on beta blockers. If they are symptomatic (fainting, cardiac arrest or a very prolonged QT interval >500ms), they will likely be prescribed a pacemaker or ICD.
Patients with Long QT Syndrome should not play competitive or extremely strenuous sports.
Again, only your doctor can prescribe the best course of treatment for your particular case. Every Long QT patient may be different even within the same immediate family.
Familion testing (company's name is PGx Health) typically takes ~6-8 weeks to get an initial response. Testing may continue as they search for additional mutations (of which there are hundreds). With that initial diagnosis of Type 1, 2 or 3, your EP can begin tailoring the best treatment options for you.
My daughter underwent five years of study by the cardiac team at our states children’s hospital. Long QT was suspected by not confirmed until her genetic test came back this spring with Type II Long QT. She had her first event while running in PE at the age of 8, she collapsed and it took her a long time to recover. We were very lucky her heart corrected itself; her school coach did not treat it as an emergency and had her walk to the nurse’s office once she regained consciousness. Her pediatrician recognized that this was possibly a serious problem and referred us to the children’s hospital. She underwent every possible test and had always had borderline results nothing conclusive. Only recently with the joining of a Cardiac Electrophysiologist and two new tests were they able to confirm Long QT, she is nearly 13 now. She underwent the EPI Study and genetic testing. Because our hospital is a research hospital they paid for the genetic testing which was nearly $7000. When her result came back her Dr. immediately implanted an ICD, a Virtuoso VR defibrillator, in her this was only four days after her results came back. She was also put on beta-blocker in January. Her device is wireless and she has a carelink monitor in her room which the hospital can check up on her every evening and will notify me if she is having problems or needs to be seen. This has been a very long and exhausting road, but now we know that she has the device and can resume a fairly normal life as a young teen and young adult. My family has a history of sudden cardiac death under forty which is now being linked to Long QT. I have three other children who are asymptomatic for Long QT. We underwent genetic testing at our own expense and my results came back negative which was completely unexpected with the history of my family. The EP specialist at the hospital has asked Familion to re-examine my results and are waiting on the results of my three other children. My husband did not have his blood tested because we all assumed my daughter inherited Long-QT from my family...the saga goes on.
Sorry Garrett hasn't replied to you, but he was just out of school and now working at the family business and busy with his friends this summer. Hi, this is his mother, Lori. Our e-mail is posted on Garrett's member page and feel free to have your son e-mail him anytime.
Right now, we are waiting to see Dr. Ackerman at Mayo to do a full scale workup to see just how much exercise Garrett can do with his Type 1. He has never had any symptoms. He's done the treadmill twice for over 20 minutes without any sign. Resting ekg was 460, and on the treadmill was just under 500 qt corrected. No one in our family or extended has ever had any signs or symptoms. All our family ekg's came in low.
Of all the family members, Garrett is the one who's pushed himself the most athletically and for long periods of time, with those coaches yelling at him in Basketball and Football, or the flush of the adrenalyn in Track. He's just never had any fainting, etc....he still does exercise in P.E. and they really run the kids or we do stuff at the track almost on a daily basis. He still gets his exercise but absolutely nothing compared to before the diagnosis. Since then, we've spent over a hundred hours online researching and reading about lqts. Much of the information that is posted on this site we are familure with. Everybody's so different. This is a great forum of information for all of us!
My daughter was diagnosed with cardiac arrthymia problems in 2000. She and her sister have pacer/defibs. Their dad died at 44 of an arrthymia., his mom has arrtymia too but they had a defib in the restaurant were she had her first full arrest and she is still living. They have been put in the LQT category, but I have been told it can be our own family unique gene...We were just approved for insurance coverage (Blue Cross/Blue Shield PPO) of the Familion Testing for LQT. Blue Cross has paid, I only had to pay $470. and insurance covered the rest but the blood was drawn in beginning of April and we are still awaiting results. She had one appointment with the geneticist at the University of Chicago for the end of May, but it was canceled because there were no results back yet. They reset the appointment for July 5. Previously her blood had been looked at by Mayo, but we never had any results
My 14 yr old daughter was recently diagnosed with mild/moderate LQTS.
My first daughter had massive chromosonal abnormalities that were incapatable with life.
she had Edwars syndrome (triple 18 chromosone)
We fortunelty have very good insurance and i fought to get it paid for 100%.
She is going for blood draw next week.
We are using PGX Health in New Haven CT. (formerly Genaissance pharma)
there is only a 70% chance they will defenetively determine the form of lqts.
hope this helps.
Our cardiologist is out of childrens hospital in philadelphia whcih are in the top.
My daughter can play all sports she wants with resting intervals only non sport is competetive swimming. something with the dive reflex (hold breathe) and strenuous exercise of the water.
but she can swim and play in water for leisure
Rachel
My son's cardiologist is also w/CHOP. Do you like CHOP so far? He is sending us to an electrophysiologist over at CHOP also. He is trying to get genetic testing through Familion. We don't want to get stuck with having to pay a lot of money so he said that Familion will do all the foot-work as far as the insurance company. Do you have any insight regarding PGX Health vs. Familion?
I have been recently diagnosed (5/2007) with LQTS and i still have not received my results. Every week I call my EP Specialist for any updates on my results. The only thing confirmed is that the testing agency has not lost my blood sample. My EP specialists also wants to hold off on genetics counseling until the results come back. This only increases my anxiety (as I imagine yours does too) because I'm worried that my son may have it too and I'd like him to be tested as soon as possible. Good luck to our family.
Sorry about the last line. I meant good luck to your families.
I was just recently told that i have LQTS but we are still in the process of fighting the system. We also have Blue Cross/Blue Sheild insurance and though I am not completely insurance knowledgeable I do know that they have told us that they won't pay for genetic testing. We are trying to get the testing done through the same company of Famillion but have been told that "it is out of range" and now we just don't know where to turn. We have had my doctor write letters to them but still have gotten no where. How did you get BC/BS to pay for it?
FAMILION is the brand name of the genetic test offered by PGX Health (same company, no difference). PGX is a larger company that recently acquired Genaissance Corporation of New Haven, CT. The FAMILION test is the only available commercial laboratory test for Long QT at this time. Research centers are doing the testing, though the wait time for results is unpredictable.
The FAMILION test has ~75% chance of finding the type of Long QT.
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