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Barbara Matulionis

Posted By Administration, Wednesday, May 24, 2017

 

Barbara's Story --

 

Four years ago, I became interested in donating a kidney to someone that I do not know. I contacted a local hospital in Cincinnati and proceeded with the work-up. In the end, I was declined as a donor due to having strong family history of Malignant Hyperthermia. Unless I could prove that I was not MH susceptible, I would not be given the opportunity to donate. I was disappointed because I went through with nearly all of the testing. Additionally, I have had many surgeries in the past using non-triggering anesthesia. I believed I could safely have a kidney removed.

This was the impetus for my sister and I to get tested for MH. While being turned down as a potential kidney donor was the initiating event to start the process, we really wanted to know our status so we could, hopefully, clear our children of this condition. We knew we each had a 25% chance of being susceptible.

Using airline and hotel points, we went to Wake Forest Baptist in Winston Salem, NC to have the muscle biopsies done. It turned out to be a fun and memorable trip. My sister had her testing done one day and mine was done the next. The medical care we received was outstanding. It was painful afterward, but since it was muscle pain, it was very tolerable. But we did use the wheelchair services at the airport to save walking!

Unfortunately, the results of the biopsies showed that we are both susceptible to MH. We were not able to clear our children, but we are very glad we had the testing done.

I let the idea of kidney donation go, figuring it wasn’t meant to be. Recently I saw a news story about a woman in Cincinnati who was in need of a kidney. This re-inspired me to try again. My sister and I had some communication with Dr. Joseph Tobin early in our testing process, so I reached out to him and asked if he was willing to write a letter of support. After consulting the group of anesthesiologists at MHAUS, he wrote a brilliant letter that was educationally informative and indicated support by MHAUS that I should not be declined as a potential kidney donor due to being susceptible to MH.

I researched other transplant centers within driving distance from my home and made a decision. After doing the initial paperwork and labs, I drove to Columbus, OH to meet with anesthesia, support letter in hand. I was approved to continue in the evaluation process. I left the center feeling confident that the medical professionals understood the condition and that I would be in good hands should I be approved to donate my kidney. I am extremely grateful to Dr. Tobin for his support. I have nearly completed the donor evaluation and hope to donate my kidney in the near future.

 

 

As told by Barbara Matulionis 

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Carrie Baldwin

Posted By Administration, Tuesday, December 27, 2016

 

Tyler’s Story --

My son, Tyler, is 13 years old. He is MH susceptible. Tyler’s father and every single male on the paternal side, have MH. They have lost two members of the family due to this genetic disorder. Tyler’s dad went on to have two sons with another wife and those boys are also MH susceptible; confirmed with the muscle biopsy. As Tyler’s mother, I opted out of having him go through the painful procedure as Tyler has always been considered MH positive.

Tyler has always shown signs of having this disorder. His body temperature spikes to 102° F during the summer and his muscles will cramp, so I have to monitor his activity carefully. When he is scheduled for surgery, he is always the first patient so the anesthesia machine is clean and prepared for Tyler. The surgical center ensures to have all the necessary medicine and equipment on hand for him. Furthermore, whenever he checks into the hospital here in North Carolina, an alert flashes to make the staff aware of his MH susceptibility.

I had never heard of Malignant Hyperthermia until Tyler was born. Now I read a lot about it and stay informed. Tyler is an active athlete in his middle school and is truly wonderful. He suffers a bit more muscle pains than the average person but that doesn’t slow him down.

 

As told by Tyler’s mother, Carrie.

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Karen Irving

Posted By Administration, Wednesday, November 9, 2016

Scary Experience - Karen's Story

In 1971, a routine tonsillectomy in Knoxville, TN was performed as an out-patient surgery. During the surgery the patient experienced cardiac and respiratory distress accompanied by a rising temperature and muscle contracture. The patient, Karen Irving, was 21 years old and would experience another such episode two years later during a surgery to repair a broken arm. The first hospital stay lasted six days with the second stay lasted seven days. The doctors had no explanation for either occurrence and the patient ran a fever of 104 – 105 for four days.

To say I was lucky is putting it mildly. I remember reading in the early 1980’s about a young football player in the Knoxville area having surgery on a shoulder and dying from malignant hyperthermia. This was the first time I heard of the disorder. In 1984, an oral surgeon planned to remove my wisdom teeth in the hospital. In the planning process, I informed him of my fears because of my two previous experiences. He was concerned and surprised that I had survived the previous surgeries. His plan included an investigation of what he thought may be happening prior to my surgery.

The day of the surgery, I entered the surgery prep area and was connected to heart and respiratory monitors and an IV pump. The surgeon’s plan was to perform a blind test of a couple of anesthesia medications to see my reaction. The first anesthesia given showed no change in my vital signs. When the second anesthesia, succinylcholine, was administered a rapid change occurred in my heart and lung vitals and I remember alarms sounding and people scurrying around me. Later he remarked, “You were very calm during all this”.  I was treated with Dantrolene and then he used a non-triggering anesthesia for my surgery. I’m quite sure that if this occurred in 2016, he would send me for a muscle biopsy first, which I later received. His investigation may well have saved my life.

After joining MHAUS, I have had bilateral knee replacement and a hysterectomy without further incident. MHAUS and dedicated Anesthesiologists need to be credited with providing information and care to patients suffering from Malignant Hyperthermia. 

 

As told by Karen Irving

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Ben Hise

Posted By Administration, Tuesday, August 2, 2016

Ben's Story

It was Saturday, July 2, 2016, when my husband was trying to repair our roof before a big storm moved in. The rain moved in quicker than expected and he was trapped on our metal roof. He began to slide and somehow ended up cutting his right hand on his pinky and ring fingers.

We rushed to the ER, where he got 20 stitches and was sent home with a follow up at a clinic in Bloomington for Tuesday, July 5.

That Tuesday, we got to Bloomington early that morning and we were turned away from the Orthopedic Clinic we initially went to, as they did not accept our insurance. Through some frantic calls, I was able to get him a consult with an orthopedic doctor.

We met quickly with the doctor, who recommended emergency surgery to repair the hand, as he was losing feeling in his fingers.

He was rushed into what was supposed to be a one to two hour procedure….two hours passed, then three… On nearing the fourth hour, his doctor came out to speak with me.

He explained that he hand surgery had gone extremely well, in fact he is considering it to be one of his most successful surgeries as he was able to repair both severed nerves and both severed tendons and my husband was expected to have a full recovery.

The doctor then went on to explain that about an hour into the surgery, Ben began to have a fever. His anesthesiologist alerted the nurses and requested that they immediately call the Malignant Hyperthermia Hotline when his heart began to race.

The anesthesiologist conferred with the operator on the MH hotline, and quickly began treatment for MH with dantrolene.

Ben’s CO2 levels rose, his muscles began to spasm, and his temperature was still high after the treatment and during recovery. His doctor called for emergent transport to the emergency room.

When we arrived, the nurses quickly began to administer dantrolene again, drawing labs, and putting Ben on what we called “the ice man blankie.”

Late on Tuesday evening, Ben was transferred to the ICU because his temperature was still nearly 102*. His nursing staff and doctors were so excellent and optimistic about his condition; I never even had a doubt that he was going to be okay.

Wednesday, July 6, his temperature was down to 99-100*, he was transferred to a step down floor, the Progressive Care Unit. He was monitored closely there for two more days. He had his worst night on July 7th. It was then that his fever spiked again, and he began to develop bronchitis. Again, the hospital reacted quickly and treated him immediately for everything.

The next afternoon, amazingly, he was released!

I heard so many times from everyone that had treated Ben over that week that no one had ever seen an actual case of MH before. This included his nurses, ER doctors, his surgeon, and even his anesthesiologist…the same man whose knowledge of MH and quick diagnosis of the condition saved my husband’s life.

Ben has now begun the healing process from this huge ordeal. He felt very sore and flu like for days after the incident, he said every muscle in his body felt tight and sore. But, he has been able to rest somewhat comfortably and is gaining strength with every passing day.

We have already added MH to all of our children’s medical history as a precaution for any future procedures they may have to have. We’ve warned every member of Ben’s family that it is a possibility that they carry the same genetic precursor. We pray that we, nor anyone else, ever have to go through this. But, if they do, we pray that their doctors are able to diagnose and treat quickly and effectively.

As told by Ben's wife; Chelsi Hise

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Daniel's Story

Posted By Administration, Tuesday, May 24, 2016

 

Daniel’s Story

In 1982, my son Daniel was born with what was thought to be a coarctation of his aortic arch.  His doctor thought that Daniel would undergo surgery around the age of four when his body was larger. However, when his blood pressure began approaching 180, it was decided that he should undergo surgery at the age of eighteen months.

On April 10, 1984, Daniel underwent surgery. During the last 1 1/2 hours of a six-hour surgery, his temperature went from 37 1/2 to 39 centigrade with a pulse ranging from 130 to 140, but he was not significantly tachycardic for a child his age. Although his cardiac surgery seemed to be successful, his condition did not improve, and it was discovered that he had an interruption of the aorta, meaning that it was not even connected.

 

Exactly two weeks later, he underwent a second surgery that lasted approximately seven hours. During the last 3 1/2 hours, his pulse increased from 130 to 200, while his temperature went from 37 1/2 to 41 degrees centigrade. The anesthesiologist had enough suspicion of Malignant Hyperthermia to administer Dantrium and begin cooling measures. It was also noted that Daniel developed a degree of metabolic acidosis requiring sodium bicarbonate. Immediately after surgery, the CPK was approximately 1000, and twelve hours after surgery, it was approximately 2000; 24 hours after surgery, it returned to approximately 800.

 

His anesthesiologist consulted with Dr. Bob Reynolds at UCLA and he agreed with the diagnosis of Malignant Hyperthermia based upon the tachycardia, rapid increase in temperature, development of metabolic acidosis, and the response to Dantrium.

 

Our family immediately joined MHAUS and we have been members for 32 years. Daniel has had subsequent surgeries and precautions for Malignant Hyperthermia are always taken. We have made sure that all doctors know about Malignant Hyperthermia and give them the MHAUS Hotline number. It was obvious to us that doctors and nurses were learning more information as the years went on because sometimes they would call us before we called them. I began to notice Malignant Hyperthermia crash carts that would follow Daniel through the hospital. Daniel wears a Medic-Alert necklace that states “Use precautions for Malignant Hyperthermia,” “Aortic Graft,” and “Allergic to Penicillin.”

 

In 1986, my husband underwent a muscle biopsy test with Dr. Reynolds and the test came back positive. Whenever my husband or three children undergo any surgery, they are always treated as being susceptible to Malignant Hyperthermia. My two other children are still awaiting a less invasive test that is covered by insurance.

 

Here are before and after pictures of Daniel, who will most likely need additional heart surgery in the future, but he is alive and well due to the vigilance of his doctors and the excellent care he received at Cedars-Sinai in Los Angeles.

 

As told by Daniel's mother,  Jody Liss-Monteleone

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Maverick Domingo Longoria

Posted By Administration, Tuesday, May 24, 2016
Updated: Tuesday, May 24, 2016

 

 

Maverick Domingo Longoria  

Maverick's Story -- 

April 6, 2016, my 8 month old son underwent a urological procedure. The doctors were done with the surgery and were applying the dressings when they noticed that Maverick’s CO2 levels had gone up. My sons temperature had dramatically increased and he had a heart rate of 200. The doctors, nurses, and staff caught the MH crisis very early on and acted on it quickly. The hospital was very well prepared and tool exceptional care of our baby. During his recovery time, we received a ton of information on MH and were referred to MHAUS. We, along with friends and family, had no prior knowledge of MH and were in total shock when out son had this reaction. Now, we are in the process of working with genetics to get ourselves tested to find out who carried the gene. This was a very scary and unexpected situation. We want to help spread awareness about MH. We are hoping that in the near future that testing for MH becomes more available and easier to conduct. Today, Maverick Domingo Longoria is full of life and continues to grow, learn, and amaze us! His strength is beyond words. We love him so much!

 

As told by Maverick’s mother, Valerie M. Longoria

 


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Ruth Ann Bruce

Posted By Administration, Monday, May 9, 2016
Updated: Friday, May 6, 2016

Ruth Ann's Story -- 

Twenty-eight years ago in June, my 7 year old son went in to have surgery for his tonsils; routine surgery that his sister had a few months before. Our small town hospital was going through bankruptcy but the anesthesiologist refused to do the surgery without dantrolene…even though, at the time, we had no knowledge of MH running in our family. Praise the Lord! Our son was life flighted out due to an MH crisis during the surgery. After the MH episode, it was suggested that my family be tested for MH. My son’s father also has MH. My son and his family now wear medic alert bracelets. If that anesthesiology hadn’t made sure he was prepared, who knows that would have happened. Knowledge is power.

  

As told by Ruth Ann Bruce 

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Richard Masanz

Posted By Administration, Friday, May 6, 2016

 

 

                                                     Richard Masanz

Richard's Story -- 

I had severe varicose veins with phlebitis. Rockford Memorial was suggested for the vein operation. When we set up the appointment, it was mentioned that MH ran in our family. My sister died in 1947 from complications associated with an appendix operation and my brother died in 1948 from complications associated with a car accident. Both deaths were thought to be MH related. With that information, Rockford Memorial gave the okay for the vein operation. However, the doctor and the anesthesiologist suggested that I get tested for MH prior to surgery. So, an appointment was made at the Mayo Clinic for the test. My son came along with me and tested negative while I tested positive. We then went ahead with the vein operation with no issues because the doctors and anesthesiologist were able to take the proper precautions after receiving definitive knowledge of my MH.  

  

As told by Richard Masanz

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Cheryl Mercer

Posted By Administration, Thursday, March 31, 2016

                                       

                                 Cheryl Mercer and our MH Feed the Research Pig  

Cheryl's Story -- 

In 1986, I underwent emergency surgery for an appendectomy. I was living in Iowa City at the time, finishing up college and my parents and fiancé lived about two hour away in Illinois.  I recall telling someone at the hospital that my father had experienced a problem with anesthesia years ago when having a fish-bone removed from his throat.  I didn’t really know any more details than that.  My parents told me they would head to Iowa City and see me after the surgery. (I appreciated a nun coming to my room and saying a prayer for my safe recovery.)  The next thing I knew I was waking up, unable to speak because I had a tube down my throat.  I was confused regarding what was happening and wrote on my mom’s hand, “Am I going to die?”  The doctor came in and explained that I had an episode of malignant hyperthermia.  I spent the night in ICU and was discharged four days later. At the time, I did not feel any residual effects of what had happened.  My medical records indicated medical records that just 10 minutes into the surgery, the surgeon recognized that my muscles were cyanotic and becoming rigid.  My temperature escalated to over 106 rapidly, and my CK levels were described as “astronomical”.   Fortunately, the anesthesiologist recognized the signs of MH and reacted immediately.

My father sought information about MH and came across MHAUS.  He and I attended our first conference in Minneapolis many years ago trying to connect with others who might know about this rare disorder.  Thinking that my father was the carrier of the MH, my brother had a muscle biopsy with positive results.  My father died in 2000 so we were never able to get genetic testing done on him.  Other family members and I were all tested and it turned out that I have two mutations, my sister has one and my son has one.  Just this year, we decided we should test my mother to determine if in fact I may have received a gene from both of my parents. It turns out that my mother has one known variant for MH, one of the mutations that I have but not the one my sister and son have.  Consequently, we would conclude that my father had the mutation that my sister, son and I have.  My brother has not yet had the genetic testing.

I have experienced “awake symptoms” over the years but they have become more frequent and severe in recent years.  Moderate exercise has resulted in elevated CK levels as high as 10,000.  Muscle cramping and twitching are frequent, and I take Dantrolene as needed.  The wonderful people associated with MHAUS, particularly Dr. Barbara Brandom, Dr. Sheila Muldoon and Dr. Mary Theroux, have been a great resource and support network for my family and me.  I encourage support for MHAUS and the work they do!

  

As told by Cheryl Mercer

   


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Doug Davison

Posted By Administration, Tuesday, March 15, 2016

          

                   Dick Davison                                                    Doug Davison     

 

Doug Davison’s Story--

 

The year was 1978.  It was December 14th and Christmas was not far away.  Choir practice was that night and our rehearsal was well underway.  Someone came up to the choir loft to tell me that I had a telephone call.  I hurried down to the telephone and picked up the receiver.  I can't even remember if it was my parents or my sister calling, but I was told that my brother slipped on some ice (in Chicago, where he lived at the time) and he was in serious condition.

 

Calls flew back and forth with my parents (in Hershey, PA) and my sister in Chicago.  I found out that my brother, Dick, had fallen on some ice, while carrying my sister's baby, and had fractured his ankle.  He was taken to the U. Of Chicago Hospital for surgery, but had some complications when his temperature rose dramatically.  It soon became apparent that he could not be saved, even with all of the measures that the hospital staff had available.

 

The whole scenario just seemed surreal.  It wasn't until much later that my father heard the term "Malignant Hyperthermia" from the doctors at the hospital.  No one seemed to know very much about the syndrome, but that was deemed the cause of Dick's death.  My father was much more accepting of the diagnosis than I was.  I immediately thought that it was the fault of the operating doctors.

 

It wasn't until my dad and I traveled to Chicago and I actually signed for Dick's belongings that it became real for me.  I never would get to see him again.

 

As my dad began to research Malignant Hyperthermia, he found that an anesthesiologist in Philadelphia (Dr. Henry Rosenberg) was involved with testing for the problem.  It involved taking a piece of muscle from the leg and exposing it to potent inhalants and caffeine to see if it reacted.  My dad and I decided that we needed to be tested, so that we would know if we carried a gene that would make us (or our family members) susceptible.  Dr. Rosenberg did the test at the University of Pennsylvania Hospital.  My dad's test came up negative, but mine was positive.  When my cousin (Suellen Gallamore) on my mother's side of the family also tested positive, it became clear that the gene was passed along from that side of the family.

 

As a result of the testing, my dad (Owen Davison) and my cousin, Suellen, worked with Dr. Rosenberg to begin an organization that became MHAUS, which has been responsible for the dispensing of important information to anesthesiologists and hospitals regarding the identification and treatment of Malignant Hyperthermia.

 

Although my brother's sudden death was a real tragedy for me and my family, it helped lead to the important work that has saved many lives.

 

As told by Doug Davison

 

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Zachary Zgabay

Posted By Administration, Tuesday, March 8, 2016

                                           

Zachary's Story--

When I was young, either in first or second grade, I went to have surgery on my right eardrum, which had developed a hole. I was going to have a skin graft done to repair the hole, but was always going to have hearing damage in that ear. When I finally had the surgery, I woke up to find my legs tight and stiff. The next thing I remember, I was spending a few nights in the hospital. I had to almost learn to walk again as my muscles were very sore and tired. I used a walker for a few days to help me get around. This is when they found out I had malignant hyperthermia. The doctor told my mother that if it had been recognized just 10 minutes later, I would have died.

Since this episode, I have had other surgeries, but most of them have been with local anesthetics that do not trigger an MH episode. In the past three years, I have had two surgeries; one on my shoulder and another on my wrist. For both surgeries, I was under that care of an experienced anesthesiologist. Everyone was aware of my documented history of MH. Each surgery went smoothly.

 

As told by Zachary Zgabay

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Harriet Dickstein

Posted By Administration, Wednesday, February 10, 2016

Harriet’s Story:

“Lucky guy, you will get to rest up in Hawaii with your family.” Those were the final words my father would hear from anyone, spoken by his doctors a few days before his routine gallbladder operation. My father never left the hospital. This was the beginning of the MH nightmare for my family.

The autopsy that was performed by USC Medical stated the following: “Earl L. Smit, age 61. Cause of death: 24 hours after undergoing surgery, the patient developed an extremely rare reaction to anesthesia (halothane) called malignant hyperthermia. Note: MH, usually genetic and very difficult to detect, causes the body temperature to spike as high as 112 degrees. If the reaction is not recognized almost immediately and an antidote given, it can be fatal.” Unfortunately, there was no antidote to be given at that time. There was no MH organization to educate the medical profession.

My name is Harriet Dickstein. I want to share this story with members and benefactors of the Malignant Hyperthermia Association of the United States so everyone can protect their loved ones from a similar tragedy, like the one my family experienced. Now that I am educated about MH, thanks to MHAUS, I am proactive to protect myself, my children, and my grandchildren. Here’s an example: When my granddaughter was scheduled for minor ear surgery, I sent a faxed notice the day before the procedure to the doctor’s assistant stating that my granddaughter was MH susceptible. The night before the procedure, I was very uneasy, worrying that the nurse did not get my faxed “alert.” The surgery was scheduled for 8:00am and my granddaughter was scheduled to arrive at 6:30am for preparation. When my daughter arrived, she reminded the doctor that our granddaughter was MH susceptible. He never read the fax that I sent and, upon learning that my granddaughter was MH susceptible, cancelled the surgery. I thank God for allowing my instincts to help avoid another possible family tragedy due to MH.

Actions that you should take if you are MH susceptible:

·        Learn about MH – Become a member of MHAUS

·        Make sure all of your children and grandchildren, of your blood line, carry medical alert papers.

·        You can be tested for added protection

·        Spread the work to friends and family and encourage them to donate to MHAUS, a true life-saving organization

 

As written by Harriet Dickstein

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Rita Osborne-Smith

Posted By Administration, Wednesday, February 10, 2016

 

Rita’s Story—

My story beings back in 1970 when I was just 7 years old in a small town in Colorado. I had to have my tonsils surgically removed. I do not remember much about the procedure. I only remember that after the surgery was done, the doctors told my birth mother that there was something wrong with me, but they didn’t know what. Years later, in November 1981, I went into labor with my first child. After 19 hours of hard labor, I was not progressing. The doctors were getting concerned because my body temperature was elevated and my heart was beating way too fast.  A cesarean section was performed. During this operation, I died on the table. I can remember my heart feeling like it was going to pound out of my chest and then it felt like my body was on fire. The next thing I remember was waking up and being hooked to many different monitors. I also remember that there were two very large glass gallon bottles with clear brown liquid that were being pumped into my IV. That is when I learned that I had a malignant hyperthermia episode. My doctor did not inform me that MH was inherited and that my children could be affected.

In 1984, when my second child was born, I was lucky enough to have had the same doctor. He was right there every step of the way. He didn’t want me to go into labor on my own as he felt the stress of child birth could trigger another MH episode. However, my daughter was not going to wait. I went into labor and went to the hospital. The doctors had to immediately stop the labor. They were able to get my body temperature down and my heart rate back to normal. It took a bit for my doctor to arrive but once he did, everything went smoothly.

In 1996, I was experiencing some issues and had to go to the hospital. My doctor happened to be on call at the hospital and sent me for an X-Ray. My gallbladder had to be removed. I told another doctor, who was also on call, that I had MH. He didn’t seem to believe me. My doctor came into the room and told the other doctor that he diagnosed me himself and I tested positive in Canada after my first child was born. The gallbladder surgery went great; the knowledge that my doctor had saved my life. I am just so thankful to be alive. I now live with the many risks associated with being MH susceptible. 

As written by Rita Osborne-Smith

 

 

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Norah's Story

Posted By Administration, Wednesday, February 10, 2016
Updated: Wednesday, February 10, 2016

 

Norah’s Story:

   

Our daughter, Norah 14mos, was scheduled for a g-tube (feeding tube in her belly) placement on July 17, 2015 and we were assured that it would be a quick, easy surgery. She was admitted the night before her surgery for IV sugar to prevent hypoglycemia. The night was uneventful and her surgery was first thing in the morning. We met with anesthesia and saw her surgeon. Anesthesia went over everything, including the "rare and scary" and of course said he doesn’t anticipate any of that as she has no history or family history of it. He was more concerned about going into surgery with a little lower sugar (which was my concern...ensuring her blood sugar stay stable throughout the procedure) and explained he would give her a bolus of sugar once in the OR depending on her glucose level...I signed the consents, snuggled Norah as she was given versed and then kissed my smiling baby as I handed her over to an anesthesia nurse. I waved as she smiled over that nurse's shoulder as they disappeared. I was then shown to the family waiting room, where her surgeon would come and get me in about 40-60min.

    I texted people to let them know she had been taken and her surgery would be under way within a few minutes. I walked to the local coffee shop in the hospital to get a coffee while I waited. Back to the surgery waiting room I went. I picked a chair over in the corner, furthest away from the door, settled in with my phone, magazine and coffee. A few adult ladies (sisters I learned) made small talk with me as we waited. The coffee was awful and as I would soon learn, as I sat there debating whether I had time enough to walk back and ask them to remake it, my sweet baby was fighting the fight of her little life. 

    At almost 45 minutes on the dot, the nurse practitioner working with Norah's surgeon came to the door of the waiting room. She didn’t come in. She asked me to come out. At first I thought "Wow, right on the dot, amazing!" As I got closer, I noticed the expression on her face and when she asked me to step into the tiny little room beside the waiting room, my heart sank. I knew something was wrong. I followed her into that tiny room and sat when she sat. She said "We have not even gotten surgery started; Norah developed a complication of anesthesia. When we know more, we will update you. She has a lot of people working to stabilize her; she is the priority patient in the hospital. Do you have someone you can call?" Then she rushed back to that OR where my baby was fighting to live. I couldn't breathe, I couldn't move. It felt like that tiny room was closing in on me, suffocating me. I called my mom; I couldn't get my words out. I couldn't stop crying. Back in my chair in the far corner of that big waiting room, those three ladies, strangers to me, offered words...this kind of stuff happens a lot, don't worry too much, don't work yourself up...I just nodded and cried out silently to my God. Please don't take her. Please be with her team and all of those working on her. Please, please, please, I need her.

    After another hour or so, her surgeon herself came out. She too, took me to that tiny room...where I didn't want to be. She explained to me what was going on and it was then that I first ever heard that horrifying term "Malignant Hyperthermia." She explained that Norah had a rare complication to anesthesia. She explained that they were doing everything they could for her and truly it was up to her and time. She said once they could get her stable, she would be transferred to the Pediatric Intensive Care Unit (PICU) and she would be on a ventilator which was breathing for her. She too had to get back into the OR to my sweet little girl. Social worker came, clergy came by too. I was brought to the PICU to wait for Norah. Waiting yet another hour in the sterile room they called hers, I was antsy to say the least. Finally, a PICU nurse came and started doing stuff in her room; Norah was on her way over!! I didn’t know what to expect. I did not expect 17+ people to come with her and all of these machines beeping and attached to my baby. I was physically sick. I wanted to scream and rip my baby way from all of this and go back home...to have never ever consented to this...turn back time. Wishful thinking. This was the reality...my baby had to be cooled to the core. My baby had received an abundance of the antidote, Dantrolene. She was on a machine that was breathing for her. I learned what "A lines" were as she had two of them...one in each wrist. She received another dose of Dantrolene in the PICU when her temp climbed high again. 

    The anesthesiologist handed me this little piece of paper with "www.mhaus.org" and (Malignant Hyperthermia Association of the United States) written on it. I clutched onto that piece of paper like it was the lifeline to Norah. He told me that he had called them in the OR all while helping Norah fight to live... He explained that he had never encountered MH in his career....(as I learn that is the same for everyone that learns Norah had MH...they’ve heard of it, prepare for it, but have never actually had it happen). Norah was transferred to The Medical Intensive Care Unit at Boston Children's Hospital. She stayed for about two weeks and even after going home, it took a long time for Norah to get back to her baseline...her ordeal caused to her to regress, lose motor skills she had fought hard to gain prior to this and most of all it took the longest time for that look in her eyes to leave permanently...for those big brown sparkly eyes to return and never leave. For the ghostly, gaunt look to be gone forever from my brave little fighter. For her spunky little self to be back. "Though she be but little, she is fierce...." Never again do I want to endure a day like that, or would I wish anyone else to go through a day like that...The day I almost lost my little nugget. 

 

I've attached a few pictures...the first two are in the PICU after the OR, before even being transferred. The second one is the little piece of paper that the anesthesiologist wrote on for me. The second to last one is a month post MH, and the last is just a few weeks ago. Norah is a miracle. She is an MH Survivor!

 

 

Thank you, Lacey Anderson...Norah's mom.

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Robert Olson

Posted By Administration, Monday, February 8, 2016

My MH Susceptible Story by Robert Olson

In 1971, my mother had an operation under general anesthesia. After the operation, the doctor told my father that everything was fine, but there would be a delay before she was in her room. Later, the doctor came to tell my father that my mother had developed a problem, and had died in the recovery room. The autopsy performed sometime later still registered her temperature at 108°F! No solid explanation was forthcoming from the medical team, but the anesthetist was fired.

My brother-in-law, who was a pathologist, began to look for answers. He found some literature on malignant hyperthermia, but there was not much to be found. Any testing, at that time, was limited to differentiated CPK levels.

We became aware of MHAUS after it was founded, and later the NAMHR. I talked to Dr. Brandom and related my story of being under general anesthesia as a younger adult in 1969 (yes, I’m that old!). I have vague memories of knocking a portable light in the OR, and numerous men jumping onto me shouting, “Hold him down!”, and some ice baths. Obviously, there was rigidity and contraction of my muscles. Upon waking in my room, I was feeling very hot, sweating profusely, and unable to move or talk. I could hear lunch trays coming and I was hungry, but still paralyzed. After recovering enough to devour lunch, I needed a bathroom break, but my calf muscles were so tight that I couldn’t put my heel down on the floor to stand up! It took many minutes to stretch enough to walk on my toes for the needed break. All my muscles were very sore, and this soreness continued for several weeks. The only explanation I could extract from the doctor was that, “Your muscles ‘fired’ during the operation, producing that soreness.” Note the years when my and my mother’s events occurred, and just think of what might have been prevented had I known more!

Dr. Brandom asked for a copy of my mother’s autopsy, and after her review, recommended that I have genetic testing. Results showed anomalies on the RYR1 gene that are connected to MH susceptibility – I am MH susceptible. To prevent family disasters, MHAUS recommends a written letter about MH susceptibility to relatives who might be affected, which I have done. Now, I carry a wallet card and have a medic alert tag that should protect me if I’m unconscious after an accident. One of my sons is also MH susceptible and recently had several uneventful operations, thanks to MHAUS and family knowledge.

MHAUS has done a superb job raising MH awareness, doing research, disseminating information, and running the hotline. This is also evidenced by my two successful operations under general anesthesia in the last several years. Each of my doctors knew about MH susceptibility, and they selected anesthetists who were very knowledgeable about MH – and careful. There aren’t enough superlatives, kudos, gratitude, or thanks from me to give the doctors and staff of MHAUS for the effects they are having in the medical community, thereby protecting MH susceptible individuals, and helping diagnose MH emergencies. – Thank you MHAUS!

 

 

As told my Robert Olson

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Curt Keller

Posted By Administration, Wednesday, January 13, 2016

                                  

Curt Keller

Curt's Story;

September 9, 2012--It’s Sunday morning and I am getting ready to do my ministerial duties at church. I turn on my cell phone and see a message from my daughter in-law asking for me to call her as soon as possible. When I call her back, I learn that our son, Geoffrey Keller, had a malignant hyperthermia episode from an awake trigger and might not survive. My wife, Kathy, and I got in the car and began a seven hour drive to Tennessee. However, we received the call that Geoffrey passed away about an hour into the drive. We knew nothing of awake triggers (non-surgical triggers). Twenty-three years prior to his death, Geoffrey had an MH episode while under anesthesia. We were told by the doctor that we had little to worry about because as long as we knew he had MH anesthesiologists could be ready and use non-triggering agents.

We were able to track MH on my side of the family by identifying a cousin who died in surgery due to complications in the late 60’s. He was having a jaw set that he broke playing sports. I was too young to know much of that at the time and I did not know this cousin. However, a year after Geoffrey’s MH episode in the hospital, my niece was going to have surgery to put tubes in her ears. The doctor did not believe there was MH in the family. I had to have the hospital that treated Geoffrey fax the records to the hospital where my niece was set to have surgery. After they received the records, the doctors didn’t want to do the surgery.

Six years before my son died, my father had to have heart surgery. He had an MH episode during surgery. Evidently, he had neglected to tell the doctor about MH in the family and the anesthesiologist never asked about any history. He survived the surgery, but never left the hospital. He died in the hospital a week later.

Before I go on, I want to say that I cannot say enough good things about the doctors associated with MHAUS. Men and women I had never met took the time to talk with me about Geoffrey and provided me with information and comfort after he died. I will forever be grateful to them

After Geoffrey’s death, my wife and I decided that we would do what we could to help prevent others from going through the pain we have gone through and continue to go through.

We have designed and completed several fund raisers for MHAUS and hope others will do the same. We have asked that the funds we raise go toward research and information for awake triggers. As I have learned more about awake triggers, I have learned about “awake symptoms” – issues those of us with MH can have, such as muscle cramping and heat sensitivity. (I know that “awake symptoms” is not a technical term, but I am not sure what else to call these issues.) I have been trying to do what I can to help promote further education regarding awake symptoms and awake triggers. I have also tried connecting with others who are MH susceptible. Somehow, I feel we are connected, having similar experiences that others may not understand. I will continue to do what I can, and hope anyone who is MHS will feel free to get in touch with me to share their feedback and concerns. 

 

​As told by Curt Keller

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Natalie Bruce

Posted By Administration, Wednesday, January 13, 2016

                          

Natalie's Brother, Warren

 

Natalie's Story:

In 2008 my brother, Warren, went in for a back operation in Manchester, UK. The operation was successful but then he had a reaction to the general anesthetic. He started to shake and was very hot. The surgeon had only seen MH once before and he tried to deal with it himself before calling for help. The antidote, dantrolene, wasn’t in the operating room but half way down the hall. Once they gave Warren dantrolene, he calmed for a short time. However, he started reacting again causing him to get very hot. At this time, we were told that if Warren survived, he would have been brain damaged with too much fluid on his brain. Warren passed away. Of course, this totally devastated our family. At the time, we didn’t know much about malignant hyperthermia and Warren did not know that he had MH susceptibility. Since then, we have all had a muscle biopsy. My dad and I both have MH susceptibility. Thank goodness my children are alright. 

 

As told by Natalie Bruce

 

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Carol Pitassi

Posted By Administration, Wednesday, January 13, 2016

Carol's Story-

My name is Carol Pitassi. Tuesday, March 7, 1961 started out like any other day for me as a little girl. I got up, got washed and dressed, and got ready to go to school. I knew that my dad was in the hospital having minor surgery that day. No one was really concerned because it was only going to be exploratory surgery for a minor problem. My mom had already undergone a much more serious surgery (open heart surgery) when I was only 8 months old. So it was my mom who was sick, not my dad. My dad was strong! He was only 43 years old! He was a carpenter/building contractor.   Little did I know that that day would be such an eventful day for my entire family; not only then, but for years thereafter.

When I came home from school that day, I had learned that my father had died during surgery, and no one was certain why. How could this be? He was not sick! My mother told my sister and me that the doctor had told her that my dad’s insides appeared to have aged faster than normal for a man of his age (I guess they were attributing his death to arteriosclerosis). I grew up believing that, and it almost cost me my own life in 1989. No one had realized that he had died because of Malignant Hyperthermia.

No one knew about malignant hyperthermia in 1961 in Rhode Island, or anywhere else in the United States for that matter. However, I learned much later that, coincidentally, it was in 1961 (the same year as my father’s death) that Dr. Michael Denborough, one of the two doctors, who described a young man in Melbourne, Australia with a fractured tibia who was more concerned about receiving general anesthesia than he was about his fractured leg. His concern was that ten of his family members had developed uncontrolled hyperthermia and death during general anesthesia with Ether.

Fast forward 28 years to the year 1989. I was married and the mother of two young children. I was about to undergo a hysterectomy operation. I was still not aware of Malignant Hyperthermia because no one….no doctor, no family member, no hospital knew about or asked the question as to whether anyone in my family had ever died while undergoing surgery.

I arrived at the hospital and was given anesthesia. My surgery was proceeding well until the nurse anesthetist noticed that there was an increase in my end-tidal CO2 and that my temperature was going up. They immediately stopped the surgery (thankfully, the event happened at the end of the surgery). They began to administer dantrolene sodium intravenously and attempted to control my body temperature. Everyone needed to work quickly and mix the solution to save my life. (It was interesting that the priest at our parish was the hospital chaplain at the time, and he said that I was certainly a celebrity at the time of my episode because all the medical personnel were talking about the event the following day). I was told later that they had to get the second half of the needed dosage of dantrolene sodium from Rhode Island Hospital, which was right next door, as the hospital where the surgery was being performed only carried half of the supply needed.

My physician left the operating room after the procedure to speak with my husband. My husband stated that the doctor told him that everything was okay at that point and that I would be okay. However, they were not going to move me as they wanted to keep me in recovery to keep watch because they believed I had an MH episode. The doctor then asked my husband if anyone in my family ever had problems with anesthesia. My husband said no, but he did tell the doctor that my father died on the operating room table when I was only 9 years old. The doctor requested that my husband get the hospital medical records as well as the autopsy records for my father.

My husband and I obtained my dad’s medical and autopsy records. We found that my dad had been given Ether and Succinylcholine during his surgery. The medical report actually stated that his heart started to act “bizarre” so they administered more Succinylcholine. Hence, in their attempt to rescue him, they actually killed him because no one was aware of Malignant Hyperthermia and the effect of Ether and Succinylcholine on an MH susceptible patient at that time. Remember, Dr. Michael Denborough and his colleague were in Australia and this was Rhode Island in 1961! They were on the other side of the world! There was no internet! No way of getting funds from the Federal Government for research on diseases that are not well known so that doctors would be informed.

Today, I have a husband and two beautiful daughters. We also have an extended family that includes my sons- in-law and our beautiful grandchildren. My daughters are keenly aware of this story and any time they have entered a hospital for any type of surgery they tell the anesthesiologist the story about their mother and their grandfather.

May my life story be helpful in spreading the word of this uncommon disorder so that lives can possibly be saved when doctors encounter an MH episode. 

 

​As told by Carol Pitassi

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Jeff Olsen

Posted By Administration, Wednesday, December 30, 2015

 Jeff Olsen and Family

Jeff's Story-

On October 29, 1984 my son Jeff, who was 7 years old, needed ear tube surgery and adenoid removal. Partly into the surgery, his temperature skyrocketed and his muscles became rigid. His ear doctor and the anesthesiologist immediately recognized the symptoms of MH and administered dantrolene, which saved his life. Ironically, Jeff had previous surgeries, one at 6 months of age and one at 3 years of age, with no MH episodes. This was very fortunate because dantrolene hadn’t been recognized as an antidote. Since that time, the entire family which includes Jeff’s two brothers, parents, aunts, uncles, cousins, and now another generation as all have had children, have been vigilant in telling all health care providers that MH runs in the family. Since it is inherited, all are at risk. Recently Jeff, now 38, had testing done since he was expecting his first child and wanted to know if he had MH susceptibility. The following is his experience:

“I had a DNA blood test to determine the genetic cause of my MH episode, in hopes of more easily determining if my newborn son also had the disorder. Luckily, my insurance company covered the cost of sequencing the entire coding region of the RYR1 gene. Unfortunately, the results did not yield any established sequence variants. They did find one rare variant, however, that is predicted to cause a deleterious change in the RYR1 protein based on protein folding prediction programs. But since there is not a lot of data on other individuals who have had MH episodes and also have this sequence variant, it is unknown whether or not this is the cause of my MH. I am going to have my son and my father tested for this sequence variant to see if they also have it. Perhaps as research proceeds on the genetics of MH, we will understand more about this sequence variant in the future, and whether or not it can be used as a predictor of MH for my family members. For now, I can’t assume that my son is in the clear for MH if he does not have the variant.”

As told by Jeff and his mother, Diane Olsen. 

 

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Ernesto Nicastro

Posted By Administration, Wednesday, December 30, 2015
Updated: Wednesday, December 30, 2015

         Nino and his family

 

Ernesto (Nino) Nicastro’s Story:

On May 5, 1983, when I was just 7 years old I had surgery to remove my tonsils and adenoids. Within 5 minutes of the halothane being administered, I had an MH reaction; my heart rate increased and I had muscle rigidity that developed with the use of succinylcholine. At this time, the anesthesiologist decided to stop the anesthetics and cancel the surgery. I believe that my anesthesiologist’s knowledge and education on MH and the decision to stop my surgery saved my life and I owe him a debt of gratitude.

It was at this point that I was referred to Dr. Henry Rosenberg in Philadelphia, PA. On August 2, 1983, my muscle biopsy was performed. The muscle behaved in an abnormal fashion to halothane and therefore Dr. Rosenberg derived that I was susceptible to developing Malignant Hyperthermia on exposure to triggering anesthetics. From that point forward, I have carried a card or worn a bracelet with medical alert information on it and I have been diligent in supplying my MH information to all of my current physicians.

I am now married and have a beautiful daughter, Tomasina. My wife and I are currently doing research into having our daughter tested for MH susceptibility. 

 

 

As told my Nino Nicastro

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Steve Rattray

Posted By Administration, Wednesday, December 16, 2015
Updated: Wednesday, December 16, 2015

                                         

                                                     Steve's Grandmother

 

My story is an unusual one, at least to me it is. In 1989, my brother, at 11 years old, had to have surgery. At that point, our family knew nothing of MH. We didn’t even know it existed. My brother’s surgery went well, but our family doctor at the time told my parents that my brother had a problem coming out of the anesthesia. He said there was a possibility that my brother had a rare condition but that he couldn’t be tested for it at his age so he just shrugged it off.

 

Four years later, my grandmother was told she needed heart valve replacement surgery. The valve replacement itself was successful, so we were told, but she never awoke. As Jehovah’s Witnesses, my grandparents had required that the surgery be bloodless. The surgeon had no issue performing the surgery that way. A few days went by and my grandmother was essentially comatose. The hospital staff began telling us that she needed blood and that’s why she wasn’t waking up. We didn’t think this was true at all. After 2 weeks of being comatose, my grandmother passed away.

 

Fast forward another couple of years. My uncle, another son of my grandmother, went in for dental surgery. Within minutes of administering the gas, the dentist noticed the signs of an MH reaction. Thankfully, he knew exactly what was happening and he was prepared. My uncle survived. That’s when the dentist told my uncle to see his doctor because he had MH. Once we learned that this condition was hereditary, more questions came up.

 

My grandfather immediately contacted the hospital where my grandmother passed and asked for her records. The hospital refused. My parents realized that this was the rare condition they were told that my brother had. If the doctor at that time had explained it to us properly, my grandmother may have survived. My grandfather fought for more than a year to get my grandmother’s records from the hospital, but they continually refused. To this day, we’ve never been able to obtain the records, but my family that was there during the whole ordeal saw the symptoms firsthand and the doctor explained some of the symptoms to them while my grandmother was in recovery. The symptoms my grandmother had matched those attributed to an MH reaction.

 

Months after my uncle’s experience at the dentist, he and his siblings were tested for MH. All four of them tested positive. Knowing as we do that my brother is also susceptible; I have lived my life as if I am as well. Every time I think of this story, it saddens me. My grandmother was 63 when she died. Had our family doctor warned us about MH when my brother had his surgery, my grandmother may have survived hers. MH is a horrible, horrible disorder. I am so thankful that some 20 years later we now have people and organizations that work hard to educate people about MH. I had to have surgery a year ago, and although it was very difficult to find a hospital that would accept me, I did find one. The surgeon was excellent and was more than accommodating. Things have come a long way since my brother had his surgery in 1989 and I am certainly thankful for it. The picture I have provided is of my grandmother shorty before her surgery. She was absolutely the most amazing person I have ever known and I miss her dearly. 

 

As told by Steve Rattray

 

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Michael Moon

Posted By Administration, Wednesday, December 16, 2015
Updated: Wednesday, December 16, 2015

Michael's Story-- 

I am a 62 year old male and am MH susceptible.  I learned about MH after complications from minor surgery under general anesthesia in 1998. After the surgery, the doctor came to my room and said that I had a reaction to the anesthesia and needed to be tested for MH. He said my body locked up and he was unable to get a tube down my throat for oxygen. He checked my teeth because he thought he might have broken them while forcing in the tube. I was referred to be tested for MH and the results were positive on all three tests.

After learning the symptoms of an MH reaction, I was able to identify at least three other possible episodes. The first occurred in 1968 when I had minor surgery under general anesthesia at the age of 15. That was the worst reaction but it wasn’t documented. My body was very sore from head to toe and I had repeated bouts of coke colored urine. From all accounts, I probably should have died at that time.

The second reaction occurred in 1978 while under an inhalant anesthesia by a dentist to remove a tooth. During that episode, I experienced death and a return, commonly referred to as a near death experience. The experience goes way beyond an MH reaction but for the purpose of sharing by story, I’ll leave it at that.

The third episode occurred in 1986 when I was under anesthesia for a minor surgery and experienced coke colored urine.

After the last MH episode in 1998, I tested positive with a muscle biopsy at the Wake Forrest University in Winston Salem, NC. Thereafter, I tested positive again through genetic testing.

Since the first positive test, all of my family knows about MH and gives that information to their doctors prior to any surgery requiring anesthesia. 

 

As told by Michael Moon

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Kate Thompson

Posted By Administration, Tuesday, November 24, 2015
Updated: Friday, November 20, 2015

 

My Pictures: 2 Years Old (with casts), 4 Years Old (with my grandmother who was a Registered Nurse), Present (My daughter, myself, and my mother).

 

There was an accident during my birth which caused me to be delivered with forceps. The forceps caused neurological damage which affected my lower extremities and my Achilles tendon. The neurological damage caused my lower extremities and my Achilles tendon to not grow with me. Due to this, I had nine orthopedic surgeries and two episodes of MH.

My first episode happened in 1977, when I was two, during the first of many corrective surgeries. The anesthesia was administered and during surgery, my body became rigid, my temperature rose quickly, and I went into cardiac arrest. The second episode happened in 1979 and the same events occurred at UC Davis Hospital in Sacramento, CA. I was finally diagnosed in the 80's at Loma Linda Hospital in Loma Linda, CA and it was confirmed with a blood test. 

I am now 36 years old and have a family. I have been in the medical profession for 15 years and work at a local hospital. I am grateful that MHAUS exists because there is an organization who realizes that some of us drew the genetic short Malignant Hyperthermia straw. They give me hope that someday, simply going to the dentist will not be a horrific ordeal or that I may have a Malignant Hyperthermia box to check. Spreading the word and education is the key. 

 

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Julie Bailey

Posted By Administration, Friday, June 5, 2015

  

My MH Experience, MH testing - Why Genetic Testing and not CHCT

 

The journey to finding out what happened to me on August 13, 2008 was the result of months spent gathering information.  I had just had my second child when my MH episode occurred. It was not diagnosed as MH by any medical staff at the time.  That day and subsequent days in the hospital were filled with multiple anesthesia-related mishaps and occurrences, not all having to do with MH.

 

An hour after I gave birth, I had minor surgery.  The plan had been to use my epidural line, but somehow blood got into the line, so they could not re-use it.  Therefore, general anesthesia was indicated, Succinylcholine was administered as the relaxant before the rest of the drugs, and my surgery was performed. Afterward, my mom tried to feed me ice chips in the recovery room.  My jaws were shut so tight I could not get my teeth apart to open my mouth.  An hour or more after my MH incident, when I was back in my hospital room but still fuzzy from the anesthesia, the CRNA came in and told us that my jaw muscles had locked up. She said it had been stressful in the operating room for a moment, but then said they had decided it wasn't “Malignant Hyperthermia” because it would have been much worse, and they were finally able to pry open my mouth just enough to shove in the breathing tube so I could breathe again. That brief mention of “Malignant Hyperthermia” by the nurse was written down by my mom. The surgery had not been halted and no post-op monitoring for MH was performed. Over the next few days, several CRNAs would pop in my room and visit me, and ask me to open my mouth.  I still could not open it very far.  They finally determined among themselves (in my hearing) that I had a small jaw and told me I needed to inform future anesthesiologists that it was difficult to intubate me.  Another “symptom” I expressed for several days was swelling near both temples.  No doctors or nurses could figure out the cause of the swelling until the baby’s pediatrician came in a day later and identified it as swelling in connection with the jaw muscles. After I got home, I had my doctor check with the surgeon about the possibility of MH. The surgeon said it could not have been MH, as the “muscle relaxant hadn’t kicked in yet” when my jaws locked up. The surgeon told my doctor the jaw joint was small so they had trouble intubating me.  I was also told it could not have been MH due to the limited muscle involvement, because MH is much worse.

 

After I was back home, my mom insisted I keep asking questions to try to find some answers about my jaws locking up.  Over the next few months, getting my hospital records, reading through them and trying to figure out what the notations and abbreviations meant was a fairly major effort with a newborn in tow.  Absolutely NO mention was made anywhere of the jaw muscles locking up and the difficulty intubating me, other than on the Anesthesia Record where the Difficulty scale was shown as a 2 out of 4.  I really began to wonder if I was going crazy and had just imagined the whole thing.  I saw my dentist the next month and told him I apparently had a small jaw.  My dentist said I definitely did not have a small jaw and that he was convinced I’d had some sort of allergic reaction to a medicine they’d given me.  

 

A few months after my MH incident, in connection with sedation before a medical procedure, I met a nurse and told her I might have an allergy to Succinylcholine, a drug that had been mentioned (abbreviated as Sux) on my hospital anesthesia record.  She then said she had a niece with Malignant Hyperthermia, that it could be deadly, and that I needed to take this seriously and pursue it further. So I renewed my efforts to try to figure out what had happened, and found MHAUS on the internet. I emailed MHAUS with the situation that had occurred during my surgery and asked if I could possibly have MH. Dr. R responded and told me that based on my jaws locking up, i.e., masseter muscle rigidity (MMR) after Succinylcholine, the possibility was greater than 50% that I had MH.

 

Why did I pursue genetic testing instead of CHCT?  Since I had a newborn and a three year old, the idea of having to travel from Alaska with one or both of them for the muscle biopsy was overwhelming.  We didn't have thousands of dollars to throw at a test for something I was about 50% likely to have, and my insurance would not assure me it would be paid for.  When we went for a pediatric visit three months after my episode, I mentioned my possible MH to the pediatrician, and told him that the kids might have inherited it. During his residency, the pediatrician had an MH patient die, so he was familiar with MH and suggested the idea of genetic testing. Seattle Children's Hospital had a genetics clinic up here in Anchorage every few months in 2008, so we were referred by the pediatrician for a consultation.  After that initial consultation, the Seattle Children's Hospital doctor was the referring doctor for my genetic testing.

 

I decided to start with the Tier One (least expensive and first level) test and am thankful my mutation (RYR1 exon 17, which has been shown to be causative for MH) was found on the first tier of genes tested.  Once my mutation was identified, the rest of the immediate family were tested for that specific mutation only, which was less expensive. Amazingly, seven out of the eight of us that were tested came back positive for the mutation.  My son was the only one who didn't test positive. I checked with Dr. R. again and was told that since we had tested positive for that mutation, even without the CHCT we could be certain that we were MH Susceptible. This final confirmation happened almost five months after my MH episode occurred.

 

If you pursue genetic testing, be sure you research what is needed ahead of time.  MHAUS has a list of the facilities that perform molecular genetic testing.  I recommend contacting them to know exactly what they need for the test. My suggestion is to print the information and provide it to the lab.  My sister had to have her blood drawn twice (in Kansas) because the lab staff had not done it correctly. [Note from MHAUS- A genetic counselor would be a great start to those interested in genetic testing. Click here for more information about genetic counselors.]

   

Even though my MH episode did not threaten my life from body-wide muscle involvement, it did interfere with insertion of my breathing tube. Over the last few years, I often experience muscle tightness in my jaws which can lead to headaches, not particularly in times of stress.  Whether or not this is a result of muscle damage from the MMR involvement from MH, I don’t know. But it makes me wonder.

 

In 2008, I felt like I was on my own in navigating through much of my MH Journey, and I still get emotional talking about it. I would have LOVED to have an advocate help me through it.  My hope would be that people like me (who don’t have knowledgeable docs around) would be able to find more local support through the process in the future. I learned that we are the best advocates for ourselves and for our families.  Sometimes we must keep pursuing something that we have a feeling about, even when we are told not to worry by medical professionals.  Had I not been spurred on to pursue it, someone in my family might have had a less favorable outcome from anesthesia in the future because we would not have known we were MH Susceptible.

 

On a positive note, my elementary aged son chose to do a Curiosity Project on MH this year, and he got to educate teachers, students and even some parents on MH.  This was a rewarding experience for us.

 

I believe MHAUS is a tremendous resource that is doing all it can to educate the medical community. My experience is that the medical community still has much to learn.

 

JB

Tags:  Julie Bailey 

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Geoffrey Keller

Posted By Administration, Monday, January 26, 2015

Geoffrey Keller   Geoff Keller Jumping

I am the mother of Geoffrey Keller who we lost on Sept. 9, 2012 very unexpectedly from a unknown awake trigger at age 26.  He and his wife, were getting ready to celebrate their 1st wedding anniversary in six days when the tragedy occurred.   He became very overheated and could not cool down.  By the time paramedics arrived, his vital organs were shutting down and legs were paralyzed.  He died shortly afterwards with a temperature of 107.3.

Geoffrey was diagnosed in 1990 at age 3 when he had a bronchial scope to find out the reason for pneumonia.  The anesthesiologist noticed a tiny twitch in his cheek.  The MH hotline was called.  Geoffrey was able to get stabilized and was in ICU for 24 hours and, thankfully, survived. We had never heard of MH.  I immediately did research and we traced the heredity and the dominant gene back to my husband, Curt.  We thought Geoffrey and the family was safe just by staying away from the anesthesia that triggers MH.  We were never told about awake triggers. Since we lost Geoffrey, Curt has done much research, and we now understand why Curt has intense heat, night sweats, and muscle cramps.  We also understand why Geoffrey would get so hot for no reason and want to sleep downstairs during the summer all the years growing up.

Geoffrey was in competitive gymnastics since age 3 for 10 years, then went into diving in high school and college.  He wanted to play guitar since he could walk and became a very talented musician owning many guitars and equipment.  Even though he had a degree in political science, he became a computer consultant which he loved.  Geoffrey was so full of life and so funny.  He had no prejudice and was loyal to everyone as long as they were loyal to him.

Geoffrey wore a medic alert bracelet and Curt wears a necklace.   Since his bracelet was so visible, awareness for MH was spread.  Since 1 in 2000 is thought to carry the dominant gene, it is strange that more people are not aware of MH.  Our family and Geoffrey and Ashli's friends are trying to promote awareness.  Geoffrey now has two namesakes that have been born to two best college fraternity friends.  Geoffrey Warren Keller will always be remembered and in our hearts.  We love you, son.

Tags:  Geoffrey Keller  Geoffrey's mother  Kathleen Keller 

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