SMOKINCHOICES (and other musings)

February 25, 2013

Rare cardiac Time-Bomb

THIS MONTH’S TOPIC: HEART HEALTH

G E N E T I C     T I M E     B O M B 

Doctors uncover mutation that turned Bexley man’s heart against him

By Misti Crane THE COLUMBUS DISPATCH

Ben and Miranda Weisbuch had returned home from their Caribbean honeymoon six hours before he collapsed and nearly died.

Mr. Weisbuch, an athletic guy in his late 30s with no history of health problems, had gotten out of bed about 7 a.m. after a short night’s sleep. Then he decided to give himself a few more minutes to rest and sat down on his bed. Without warning, he fell backward.

That’s all he remembers about that day.

Mrs. Weisbuch saw her husband gasp for breath and his eyes roll back. She called 911, and paramedics soon shocked Mr. Weisbuch’s speeding heart back into a normal rhythm before taking him to Grant Medical Center, where he remained unconscious for five days.

Ben Weisbuch was 37 when doctors diagnosed a potentially fatal heart defect

Mrs. Weisbuch and the couple’s families were told to expect the worst. Doctors had diagnosed ventricular fibrillation — rapid and erratic heartbeats that can be fatal — and later told Mr. Weisbuch that he had endured a severe episode.

“The chance of me being here right now is about less than 1 percent,” Mr. Weisbuch said this month at his Bexley home.

Those who do survive such an episode often suffer brain damage. Mr. Weisbuch, who is now 40, did not.

What has unfolded since his diagnosis has turned Mr. Weisbuch into a catalyst for a medical discovery that could one day lead to better diagnosis and treatment of heart abnormalities worldwide.

The Weisbuchs talked to heart experts across the United States and in Europe, hoping for an explanation of his illness. The heart team at Ohio State University’s Wexner Medical Center took particular interest in his case.                                                   

Existing genetic tests found nothing to explain his heart problem.

“How do you treat a disease that doesn’t exist?” said Peter Mohler, an OSU researcher who specializes in figuring out the root causes of ill-understood disease. “This case was bizarre.

“Usually, we see these types of arrhythmias in little kids or adolescents, in athletes who are exercising. He was basically just lying in bed.”

Through electric mapping, the researchers figured out that the abnormal rhythms were unlike anything they’d seen before, Mohler said. He and others at Ohio State began considering something they’d never done.

They knew that Mr. Weisbuch’s mother had died suddenly and that heart arrhythmia was to blame. They strongly suspected that genetics could explain his rare and severe disease.

But they didn’t know where to look. Genetic tests typically look at specific areas for mutations that other people have.

Finding nothing in those spots, they decided to have Mr. Weisbuch’s entire exome mapped. The exome is the part of a person’s genetic makeup that contains important DNA sequences that direct the body to make essential proteins. It contains a bounty of information, but much of it means nothing to geneticists.

They found something new, in a place where scientists hadn’t found explanations for cardiac abnormalities before. And when they looked at the DNA of Mr. Weisbuch’s mother’s twin brother, they found the same thing.

“It’s like an ocean of unknown that we found this gene in,” Mohler said. “The genetics gives us a smoking gun. It’s a new gene, a new disease.”

Normally, the gene in which the mutation was discovered is responsible for making proteins that regulate heart rate, Mohler said. That makes it more plausible that the mutation they found is responsible for Mr. Weisbuch’s disease, said Amy Sturm, a genetic counselor working on Mr. Weisbuch’s case.

More research must be done before the finding is iron-clad, Sturm said, but she suspects that what they’ve found will eventually make a big difference in families with the mutation.

For Mr. Weisbuch, this genetic information has so far not led to a good treatment, although Mohler’s team is working hard on that.

“We have to understand the disease before we can solve the disease,” Mohler said.

  • Within three years, he’d like to identify a drug to treat Mr. Weisbuch, design a screening test for other people with unexplained heart problems, and spread the word about the discovery to doctors and researchers throughout the world.

Mr. Weisbuch has an implanted defibrillator, his second since the first episode in 2010. The first was experimental and delivered a more-potent jolt every time it fired. He opted for a traditional defibrillator and a less-intense shock.

  • Mr. Weisbuch’s defibrillators have fired almost 140 times.

“I’ve never, ever had any patient with this degree of ventricular fibrillation,” Sturm said.

  • Mr. Weisbuch said that when an episode occurs, he feels as if he can’t breathe, as if he’s drowning and is going to die. Then he passes out and the defibrillator kicks in.

Mohler describes the firing of a defibrillator like a kick in the chest by a donkey.

The first couple of times, Mr. Weisbuch woke up to his wife’s screams.

“These incidents are horrendous,” Mr. Weisbuch said. “I pray every time I hold my child that I’m not going to pass out.”

JONATHAN QUILTER DISPATCH    Weisbuch, his wife, Miranda, and their son, Maccabee. The genetic defect was not passed on to the boy

As he awaits drug or surgical advances based on his case, Mr. Weisbuch said the genetic discovery already has helped him.

His 20-month-old son, Maccabee, has been tested and does not have the mutation. He and his wife plan to test embryos for the genetic predisposition and use in-vitro fertilization for future children.

And the Weisbuchs have an explanation, which they appreciate. “It gives us hope that someday we might be able to have a normal life,” Mrs. Weisbuch said.

They’ve even started a nonprofit group that they hope will help others with inherited heart disease, including people who could benefit from genetic testing but can’t afford it. It is called the Heart Hope Foundation.

“If my survival can help someone else improve their life, it means the world to me,” Mr. Weisbuch said.

~              ~               ~             ~             ~              ~

For more information on the Weisbuchs’ foundation, visit facebook.com/heart  hopefoundation   or http://www.hearthopefoundation.org  .

mcrane@dispatch.com

(My comment:  

This is a beautiful family,  and it appears to be one fortunate family as well.   Because of Miranda’s swift action – Ben is alive at all.   And because of all that Ben has gone through trying to understand his condition and seek answers to this horrendous puzzle. . . .    .   it would appear that progress is indeed being made which may not have come about as swiftly, had this not happened to him.  On the surface – – small comfort, for this has been painful and frightening leaving the family feeling vulnerable due to so little being known regarding his particular type of arrhythmia.

As so many “smokinchoices” readers know, I have A-fib, a different kind of abnormality.  I have never  had most of what has afflicted Ben, and it seems possible – – his mother.    My background experience with heart palpitations have been there most all my adult life – – I am as all know, more than twice Ben’s age.  My heart problems stemmed from the ongoing stress my body endured (all my adult life) from an undiagnosed  “thyroid condition”.   There was weakness and near fainting, but nothing dramatic.  More than five years of serious A-fib elapsed before I was asked to see a cardiologist.    There were  many tests done and finally, the hospital stay to load me up on Pfizer’s Tikosyn.    It was simply – marvelous.   No more frightening races going on in my chest cavity.  All seemed good to go.    Over five years!

When Tikosyn was stopped,  A-fib returned, so nothing has been “cured.”   Please do not misconstrue, I am grateful for the help I received and the relief from the worry and discomfort of it all.  At 83, I am not of a mind to go through this all again.  Wouldn’t.  Nor do I think it is appropriate for someone my age to be dipping so deeply into the funds of Medicare in this manner. Especially, if, as in my case — – there are other options.  And there are.

Everything in the universe is energy, every single thing including our bodies and the function thereof.  And I am nothing if not devoted to healing in one form or another.  Regular readers understand that I am not fond of pharmaceuticals as they are chemical in nature, ergo – alien to the body with all the attendant side effects (often as bad or worse than the disease).  Based on these various concepts, I lean toward organic, holistic and herbal paths for bringing harmony ‘back to the body’ when things go amiss.  If possible.   As to the subtle healing arts, these days referred to a Energy Healing, I have tried many and still do use a couple.   Highest on my list these days is EFT (so easy – no tools needed), and of course. . .  .  Donna Eden of Eden Energy Medicine- easy once you understand it and know “HOW” to do it. 

Whether one is speaking of EFT or Eden Energy,  it is all energy.  All the ancient cultures back throughout time have had methods for dealing with illness and disease.  The energy pathways of the body have always been known and seen by many.  Mostly what changes is the words.  Energy flows and remains in harmony until and unless it is blocked.   Blockages can be seen or felt  in many ways – – they are  dealt with by removing blockages and restoring the flow  as the energy was meant to be, restoring harmony to the body, automatically, relieving pain. 

In the case of EFT,  I have benefited greatly owning the  manual and video tapes from Gary Craig . I use it daily for anything – pain,  RLS,  frustration, sorrow, self-pity (yes – I get one of those parties occasionally) and also, most especially – gratitude for the blessings that already are.  As they say – “try it it on anything.”   (Even A-fib)

Tho I do use it for A-Fib and it always helps get me through so I can function – – it still returns.  (EFT how-to’s at upper right of this blog)   What I do is not complicated at all. . .  the usual tapping points at head and torso with really simple dialog. . .e.  g.  Then at Karate chop . . “even tho my heart is really racing right now, I deeply and completely love and accept myself and my heart. . . even tho the  pounding in my heart is frightening, I know my body can correct this because I deeply love and accept myself – – and 3rd time,  e.g.  . . even tho my heart is overworking and trying so hard, I know that it will correct this with a strong, steady heartbeat because I accept my body and trust my heart. Then I proceed to regular tapping starting at top of head, >EB and so on with simple phrasing like ‘strong, steady heartbeat.’   It is my custom to generally use both hands on both sides of head simultaneously, but in this case, I use just one while the other hand is cupping over my heart (much like Richard Gordon teaches in Quantum Touch – which I also like very much).   It is hard to explain how grateful and empowered one can feel each time through easy little steps,  one can find blessed relief, serenity and composure – – ready to go again.

So the bigger guns I need (and I know this), are to be realized by means of learning how to do Donna Eden’s Energy Medicine.  I have her books and some videos.  There are  video snippets on YouTube,  and listened to her process on  she put together to save her own life when the medical community gave  up on her. Her path was hard, but she had two little girls she refused to leave.  That drove her.   It helps that she and all members of her family were able to maintain the suble vision that they say all humans are born with.  Her mother and kin openly discussed what they saw hence it was “normal” in their world.  So, most of us through lack of use don’t have that precious gift.  We all “sense” stuff differently.  Mine is mostly intuitive feeding into knowing.  My Mother was highly “sighted.”  But not me.  

Vision is such a strong asset, but there are other ways to see what is going on in the body, like muscle testing which is energy testing.   All taught in her books.   But it is hard to do on self.  Need a partner to work with and share back and forth.  I don’t have that, so can’t energy test (well, in truth, there are ways) and am therefore handicapped in trying to accomplish what I need to know to advance.  I have checked out her site hoping to find an associate who has been trained by her at “INNERSOURCE”  somewhere near Columbus, but alas, no one.  My budget has it’s hands full, so no room for travel costs.  My mama didn’t have any stupid kids, so I’ll get there – eventually.

Meanwhile,  my heart goes out to this family (and a little prayer, too).  It would be my fervent wish that while Ben is waiting for miracles to develop in the medical community (and they will – eventually),  that somehow he could be made aware that there are very real solutions in many places waiting to be recognized.  Everywhere.  My choice for Ben would be to get an appointment to see Donna.  She has been at this for more than 30 years;  has taught many thousands how to do this and in fact, there are certified practitioners all over the world.  She is a Goddess in the world of Healing. .  .  and perhaps one of the most recognized, joyous healers on the planet.   From the heart,  Jan)

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3 Comments »

  1. My name is David Jones and I am trying to find out exactly who it is that has this forum and posted the above comment in blue because I can help in a way that Donna Eden’s Energy Medicine cannot. I also would like to get in touch with the Weisbuchs because this same information can help Ben in a very big way … and with NO side effects whatsoever. The information I would like to share with you will absolutely blow you away and I have a very powerful testimony that is specific to Atrial Fibrillation. Not only that, the same person with the A-fib, also had a pacemaker and, by implementing the same things that I am wanting to share, got her heart to start functioning on its own again – it was a 95% improvement to be exact. You can reach me at 614-371-7330 or at djones4health@aol.com

    Comment by David Jones — February 26, 2013 @ 5:20 pm | Reply

    • David, my custom has been right along to just pass on all comments which are obviously slanted toward the commentor’s sales volume. There has not been any selling whatever on my blog. I am not opposed to earning a living or even making tons of loot – -it’s just not going to happen here. In five years, I’ve never sold a thing or asked my readers to cough up a penny. Nothing to do with anything other than my own motivation. I try to spread the word on stuff I’m into. That would be health issues, dietary information, planetary issues and so on.

      A couple of things bothered me aside from all that. You didn’t know who runs this blog. I signed the comment to which you refer. I am Jan. I have A-Fib. The central figure in the story – Ben doesn’t have A-Fib, he has a rare malfunction based on an unknown gene the docs know nothing about. The docs are hopeful they can discover necessary facts and correlations with which to bring about solution for him. Their projection of 3 years was somewhat scary considering what he faces. In the meantime, his “VENTRICULAR FIBRILLATION” has created a most difficult path which he is courageously and bravely soldering through. I had hoped that some fortuitous connection could transpire in which someone who knows him might tell him of the points made here with regard to Donna Eden. Aside from the books which Donna has sold in which she teaches and shows others how to do what she does, she isn’t “SELLING” products. Donna’s gift is special and unique – – unlike any other. People are always bringing in half dead loved ones to her because there is no hope for them anywhere – all avenues having been exhausted. Its kinda her own story. She had been given up on too.

      David, I tell stuff like I see it. Sometimes, its not pretty – but I’m up front, which I wish more people would be. Life can be so full of stuff and insincerity, I have no patience for it. My feeling is that one does not intrude on others. We do not bombard sick people with sales pitches for there are about 50 million of them out there – all claiming to be the best or the only! I wouldn’t do that to Ben. (if I could). My way is to put it out there and let the angels take care of the rest.

      So why didn’t I just trash your comment instead of allowing it? I felt you meant well; meant no harm. You believe in what you are doing. Went to your site. Saw you are associated with Nikken, so can’t be too bad! But nothing I saw there grabbed my attention including reading your story. It wasn’t your story at all. . .it was a back-handed sales pitch and to add further insult, I couldn’t even tell what you were trying to sell. Since I anticipate that you won’t be pleased – – trying to tell you why. . . .but, hey, thanks. Jan

      Comment by Jan Turner — February 26, 2013 @ 9:23 pm | Reply

  2. Jan, this is Ben Weisbuch. Thank you for your beautiful words. You are so kind to take the time to offer your thoughts of empathy towards my family. My thoughts and prayers go out to those who passed away because of my disease, and other arrhythmic heart diseases hat lead to Sudden Cardiac Death.

    You are brave, as well. Dealing with A-fib must have been scary for you at times, of not often. As I like to say, one should not feel their heart, other than during exercise.

    I also feel for those who carry a deadly gene mutation and do not know it. For those folks, unfortunately, it is only a matter of time. Their “time bomb” might click to zero. If that happens, may they be blessed by having someone like my wife close by. 95-98% of people in this country who suffer Sudden Cardiac death die BEFORE they get to he hospital. Of the 2-5% who survive, two-thirds leave the hospital with some level of brain damage.

    It might be hard to understand, but I owe a debt of gratitude to those people who did not survive their episodes of SCD. Through their deaths, scientists researched and discovered how to save the lives of people like me. I owe a debt to those people whose lives were lost that I might live. It is a debt a can never fully repay. It is a debt I can try to repay, as best I can however, through our Heart Hope Foundation. In the Talmudic tradition, if we save one life it is as if we have saved the world. When I entered the “death sequence” as it is called when I went into VF all those times, I essentially “crossed over” toward death. In a way, I u deist and what those who died before me experienced. I experienced what they did, except I came back to this world. I feel a connection with the dead, more than I can explain.

    As an aside, yesterday my geneticist phoned me. He told me he is ready to publish the findings of his research study on my DNA. The bottom line conclusion is that he will announce to the world in the Scientific Journal, “Nature”, that he and his lab has discover an entirely new arrythmic heart disease. This new disease is as distinct in itself as any other named disease, such as Brugada, Long-QT syndrome, Short Qt Syndrome, Marfans, or Worl Parkinson’s White Syndrome. Through his work, I am told that medical students will now have a new micro-biology to study, and that medical textbooks will have to be updated.

    This discovery is yet another example of how there exists hope for all of us. Given enough time, money and imagination, cience can discover the causes of our diseases and extend our lives.

    So I thank you for your kind words. My wife thanks you. I am blessed, despite all of the horrendous journeys we have been forced to experience these past three years. It has been harder on my wife, family and friends than it has been on me. I face another heart ablation procedure at he end of this month – please think good thoughts for me. I will for you.

    As you live in Columbus, I would enjoy meeting you. How can this be arranged? Perhaps you can contact me through Facebook our through the Heart Hope Foundation.

    Finally, perhaps your readers would like to watch an NPR interview of me and the geneticist, a speech I gave to the American Heart Association, and a story by Channel 4 on my family. Here are the links:

    https://www.facebook.com/ben.weisbuch?ref=tn_tnmn

    http://www.nbc4i.com/video?autoStart=true&topVideoCatNo=default&clipId=8381269#.UR4sV-PWGFQ.facebook

    (At minute 17). http://wosu.org/2012/allsides/wellness-wednesday-student-health-heart-health-and-youth-obesity/

    Thank you again! Lets get together soon.

    Ben

    Benjamin Weisbuch, Esq., M.A.
    Spokesperson, Heart Hope Foundation

    Comment by Ben W — March 2, 2013 @ 10:10 pm | Reply


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