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Top tags: Barbara Matulionis  Beth Luedke  Carol Pitassi  Carrie Baldwin  Cheryl Mercer  Daniel  Doug Davison  Ernesto Nicastro  Geoffrey Keller  Geoffrey's mother  greg glassman  Harriet Dickstein  Harvest Anne  Jonathan  Julie Bailey  Karen  Karen Irving  Kate Thompson  Kathleen Keller  kimberly shike  Lacey Anderson  Maverick Longoria  Michael Moon  Natalie Bruce  non-anesthesia related MH  Patrick Welch  Richard Masanz  Robert Olson  Ruth Ann Bruce  Steve Rattray 

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

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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. 

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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. 

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

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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.

 

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

Tags:  Geoffrey Keller  Geoffrey's mother  Kathleen Keller 

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Kimberly Shike

Posted By Administration, Sunday, July 13, 2014

     
After months of reoccurring strep throats we were advised our youngest daughter Kimberly Beth who was 7 years old would need her tonsils removed. We live in a rural community with a small hospital and chose to take her to a larger hospital in Baltimore, Maryland.

So on March 3, 1986, we took Kimberly to the hospital for what the doctor said was a simple operation and would take about 45 minutes and we could see her afterwards. About 2 hours passed when a doctor approached my husband and I and introduced himself and said there was a problem. He told us Kimberly had developed muscle rigidity and her body temperature was elevated so they stopped the operation. He also told us that he was not the attending anesthesiologist that he was passing the OR and heard the voices talking and went into the OR. He had only one other time in his 30 years as a doctor seen another case with similar body reactions and knew the operation had to stop immediately. When we were able to go and see Kimberly she was packed in ice to bring her temperature down and was being monitored. She was scared and crying, as we did not know what had happened. We had so many questions. We were able to bring her home and were told they suspected it might be Malignant Hyperthermia and take her temperature every hour. Of course not knowing what Malignant Hyperthermia was I called the next day and made an appointment with the doctor to get more information as he had offered. It took close to a year to get all the information and check into insurance coverage for the muscle biopsy; what made things worse was the fact that the test was considered experimental and the closest hospital was out of the state of Maryland.

So on May 5, 1987 at the age of 8 we took Kimberly to Hahnemann University Hospital in Philadelphia, PA for the muscle biopsy, performed by Dr. Rosenberg. When the result came back, we were advised Kimberly was positive for MH and that we should get a medical ID for her. Kimberly wears a medical ID bracelet all the time. We were very lucky the doctor was there to stop the operation and Kimberly recovered with no problems. It is so very important to meet with the anesthesiologist before any surgery to make sure they know the signs of MH and know how to handle a MH crisis as well as knowing your family medical history.

Kimberly has graduated with a BS degree, has a career in special education and lives in Westminster, Maryland with her cat Diesel. 

My husband, Howard and I know how lucky we are that our daughter survived the MH episode. Many parents and families are not as fortunate. Knowing that if it could happen to our family, it can happen to anyone.

After Kimberly’s MH episode I decided to educate myself as much as possible about Malignant Hyperthermia and become involved with MHAUS. I have been a volunteer with MHAUS for over 20 years and currently chair the Patient Liaison Committee. I feel it is so important to tell people what MH is and the questions to ask their doctors before any surgery. There are many resources now available to anyone who wants to know more about MH. MHAUS has many individuals who work tirelessly and volunteer their time to help educate and save lives. It is a privilege to work with such dedicated people.

As told by her mother, Lydia E. Friedman

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Vincent Groetzner

Posted By Administration, Sunday, July 13, 2014


My name is Lisa Groetzner, also known as "Vincent’s Mom”. It is ironic how in some ways we lose our identity when we become a mom, yet in other ways we grow into a new and better person because of that blessing. Let me share our story with you. I’m here today because Vincent has given his family and siblings a gift, the gift of his life.

If you are familiar with Malignant Hyperthermia, you are probably thinking right now that Vincent had undergone some kind of surgical procedure and reacted to the anesthesia. Well, that is not the case. As we learn more about Malignant Hyperthermia, we are uncovering that MH is not just about inhaled anesthetics. Vincent died in less than two (2) hours from a Fatal Awake MH Episode just 2 weeks before his 7th birthday, and we have yet to understand what triggered this in him.

On June 14th, I left for work before the kids were even awake. We had just had a fun weekend after school ended on June 10th and the boys were excited about the summer fun ahead. I had scheduled a vacation day for June 15th so we could all go to the beach to "kick off the summer” with close friends of ours and their children. There was nothing that could prepare me for what was about to happen in our lives as I drove home from work that day.

I arrived home at approximately 4:15. The kids had a quiet day in the house with Vincent & Dominic enjoying their time together now that school was done. As I settled in and the boys told me about their day, Vincent mentioned to me that he still had a headache. I instinctively reached over and felt his forehead. He felt fine, and I kissed his cheek and asked if he needed Tylenol to make it better. He said no, that he was fine. I asked him if he remembered to wear his glasses today, because over the weekend he hadn’t and he had started with the headache the day before. Then my neighbor called wanting to know if Vincent wanted to come over and play with her son and play in the splash pool since it was still so hot out, and when I asked Vincent if he wanted to, he was jumping up and down on the bed, saying, yes, yes, yes, with excitement. I remember thinking the headache mustn’t be that bad then.

Our nanny left at 4:45 to drop Vincent off right down the street at the neighbor’s house and everything was fine, nothing out of the ordinary was noted. It seemed like barely 20 minutes went by and I saw my neighbor through the window coming to the door with Vincent and her son. I opened the door and asked what was wrong. She said she wasn’t sure, but Vincent said he couldn’t bend his legs. I looked at Vincent and reached out to help him in, and he said, "Momma I don’t know what’s going on, but I can’t bend my legs and my heart feels like it’s going to pound out of my chest.” I feel his chest, his heart is racing and he is HOT, very HOT. He’s asking for water, I take him into the bathroom to get him into a cold shower to try to cool him down. I get some ice packs, but they are hard ones and they are difficult to work with. It’s approximately 5:30.

I’m getting him water, thinking he shouldn’t drink too fast. Recalling now that my husband said Vincent drank water too fast this morning and threw it up. We think nothing of it, because he’s done this before and seems to have a sensitive stomach. He can barely hold the cup. The shower isn’t cooling him enough, I don’t have enough ice for an ice bath, and I don’t think I should submerge him since his heart is racing. I dry him off and get him to the front room and sit him down and he’s asking for more water, I get him more water, I run out to the car to get it started, crank the air, and put the front passenger seat down in a reclined position. I ask the neighbor to stay with the kids and that I need to get Vincent to hospital now … I feel like I wasted precious minutes and I don’t think I should wait for 911. My mind races, the rest of the kids would be traumatized to see EMS Personnel come in and start working on Vincent.

As I carry Vincent out and put him in the front seat and put cold wash clothes on his forehead, and ice packs by his neck and under arms, he’s asking me why I’m putting him the front seat? He is totally coherent, as he has been the entire time. As we are driving to the hospital he’s complaining that the sun is in his eyes (we are driving towards the sun). I’m telling him not to worry about that, close your eyes, concentrate on your breathing (he’s breathing shallow), and I’m trying to get him to take deep breaths in and exhale out all the way. He’s telling me the ice packs fell off when I made a turn. So many things happening at once. During all this time I have called the pediatrician, my husband, my nanny (to come back and help with the other kids). I had my husband call the ER/hospital ahead to let them know we were coming. People are not moving out of the way on the road, I can’t get around them. I’m honking my horn and flashing my lights and people are too oblivious to think that there is a hospital less than a mile down the road and this is an emergency. Vincent starts trying to tell me he can’t open his mouth. He’s sounding scared now and I look over and see he’s talking through clenched teeth. This is worse than I ever imagined and he has been so brave this whole time. I am loaded with adrenaline and my mission is to get to the hospital. I go in the wrong way, and miss the turn to get right in front of the ER door, I swing around the parking lot and get in front of the door. I tell Vincent, we’re here, we’re at the hospital and I’m going to get you help and see what’s going on. You’re going to be okay. Vincent tells me, "Momma you’re going to have to carry me.” Of course, I’ll carry you sweetheart. Momma has you.

I carry him, yelling HELLO, I NEED SOME HELP HERE! No time to triage … they take him from me and we’re heading down the hall. I tell them everything, from the fact that he was fine, not sick, nothing, to coming home without being able to bend his legs, etc. They whisk him away. It’s approximately 6:00 p.m.

You know when they send a pastor to sit with you it’s bad. Code Blue … I can see them trying to resuscitate my sweet boy, my first-born amazing little boy. I’m praying to God that if it’s true that you don’t give us anything more than we can handle, that everything has to be okay, because you know I can’t handle losing him. The doctor comes in and tells me he thinks Vincent is septic, his fever is upwards of 108 (they can only measure up to 108). He thinks it is meningitis. I tell him everything again, I say no way, he was fine, he was coherent when we pulled up in front of the hospital. If someone has a fever like that, he wouldn’t be coherent, he’d be delirious. He asks me if anyone is coming to be with me. I tell him my husband is on the way. He tells me Vincent has been flat-lined for too long and even if they can get him back, he would be severely brain damaged from the temperature being so high. My brilliant, talented boy is gone, This is every mother’s worst nightmare … to lose her child … it’s unfathomable.

My husband arrives and they discontinue resuscitation efforts and call his death at 7:14. I laid in the bed holding my dear sweet Vincent for what seemed like an eternity, stroking his hair and his cheek, kissing his head.

The following weeks are torture. I go over in my mind every detail, anything I could have missed, anything that could have contributed. The Health Department has contacted everyone since the ME’s office has ruled out anything contagious. What took the life of my precious son? After many conversations with the Medical Examiner, Dr. Wendy Lavezzi, trying to determine the cause, we discussed everything leading up to his death, everything he could have been in contact with, his past medical history, etc. After 6 torturous weeks, Dr. Lavezzi called me to tell me she was ready to "un-pend” the death certificate. The cause of death was Malignant Hyperthermia due to an underlying undiagnosed muscular disease. I have never heard of Malignant Hyperthermia, but my head is spinning because I had searched for years for a reason for Vincent’s posture, I had brought him to so many doctors and specialists, they had put him through so many tests, only to be told again and again, that they didn’t know why he had an exaggerated arched back, that they never detected any muscle weakness, and that eventually they would suggest a muscle biopsy.

After contacting the Malignant Hyperthermia Association of the United States, and after long discussions with Dr. Barbara Brandom and Dr. Henry Rosenberg, they put me in contact with the right people and the genetic lab up at UPMC, I authorized Dr. Lavezzi to send Vincent’s tissue sample and blood to the lab to see if we could confirm this diagnosis. After more torturous waiting, it was confirmed that Vincent had a variance in the RYRI gene. Now the rest of us had to be tested, and it was confirmed that my husband and 2 of my other children have this same variance. Now to determine what the underlying muscular disease is. My husband undergoes a muscle biopsy at Children’s National in D.C. and the research team takes some muscle to perform the Caffeine/Halothane Muscle Contracture Test as well. MH positive. More weeks of waiting for results of muscle biopsy … classic cores indicative of Central Core Disease ….

Without the devastating loss of Vincent’s precious life, we probably would have never learned that my husband, my 6 year old son Dominic, and my 3 year old daughter Avelina, all have Central Core Disease, which makes them highly susceptible to Malignant Hyperthermia. My 1 ½ year old daughter Alessia, whom I lovingly refer to as "my happy little accident” does not have Central Core Disease. The irony amazes me.

So as you can see from what I have described to you, MH is not just about anesthesia. I have been following Dr. Henry Rosenberg’s blog, President of MHAUS, and he describes proposed future classifications for MH. As the research continues and new discoveries come to light, it is my hope that the education and training of medical professionals expands. It is obvious that the ER was not prepared for an "awake” MH episode. Even with the symptoms I provided the staff, their differential diagnoses did not include the possibility of anything other than infection. When the anesthesiologist in the ER administered succynylcholine to intubate Vincent, if he/she was advised of the muscle rigidity Vincent was experiencing when he came home and the subsequent symptoms of tachycardia, hyperkalemia, increased CO2, etc, perhaps a connection could have been made. If there was any chance of saving Vincent, that chance was lost once they administered succinylcholine.

Over the past year the Dr. Paul Banerjee, Medical Director of Lake/Sumter EMS, Dr. Wendy Lavezzi, District 5 Medical Examiner, and myself have talked at staff meetings at the local hospitals, all of the EMT staff in Lake/Sumter counties, and UCF Nursing Program students. Shortly after we spoke to the EMTs, there was a case where an individual underwent outpatient surgery and went home. Many hours later that person started to develop muscle cramping and a fever. 911 was called. The EMT recognized the symptoms, inquired about history, and promptly started cooling measures and got the patient to the hospital. On arrival, the EMT advised the ER staff that the patient was most likely having an MH reaction and to treat with Dantrolene. They reacted with disbelief and history was provided. This patient was saved.

It is my hope that in Vincent’s name we can continue to raise awareness regarding MH among emergency medical professionals and help to establish protocols for EMTs and ER staff. If there’s a fever, it doesn’t necessarily mean there is an infection. There should be a range of differential diagnoses. One should never become complacent in their medical training.

As to by his mother Lisa Avallone-Groetzner

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

Tags:  non-anesthesia related MH  vincent groetzner 

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Greg Glassman

Posted By Administration, Sunday, July 13, 2014

     
My son, Greg, was going in for minor surgery to put tubes in his ears and to have his adenoids removed when he was 22 months old. His father, a surgeon, explained it was a very easy procedure and I should not be anxious. Well, we all learned that any procedure involving anesthetics can never be considered easy.

Immediately following the surgery I greeted Greg in the recovery room and at once noticed and commented that he was very hot. I continuously told the nurses in the recovery room he was hot and they dismissed my input and treated me like an overprotective neurotic mother. When they placed Greg in his own hospital room, he was crying and even hotter. Again, I tried to discuss this with the nurses and, at this time it was suggested I leave the room, their belief being he would then calm down. I refused to leave, but the nurses, however, did.

Thank goodness I was a protective and aware mother because within minutes Greg became rigid and started to vomit blood. I screamed for my husband, who was right outside the room. When be came into the room he instantly knew Greg was having a Malignant Hyperthermic episode. He picked Greg up and held him under cold water in the tub, thus saving his life.

It is so important to have an advocate when going in for surgery. Be your own, if necessary, but be informed and be persistent.

A "simple" procedure nearly ended in a terrible tragedy, but my awareness and persistence, and his father's knowledge, saved his life!

Greg is now 27 years old, happily married to Courtney and President of his own Real Estate Resort Company.

As told by his mother, Marilyn

Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

Tags:  greg glassman 

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