Presentation from the 2014 CVSA Adult and Family Conference
My daughter, Mollie, was born in 1978 on her sister’s sixth birthday after a happy uneventful pregnancy. Her four year old brother was ready for another sister and her red-headed, freckled-faced presence filled our house with joy. At approximately age 12 months, Mollie was diagnosed with mild unidentified global developmental delays. When Mollie was about one and a half, she woke up one morning vomiting for no apparent reason. This was the beginning of eleven years of vomiting episodes that were mysterious, horrible and undiagnosed. Initially she vomited about two times, went to sleep for about 2 hours and then woke up her usual vigorous self. Six months later, this scene was repeated. About every six weeks for the next six months she did the same thing but each episode of vomiting became a bit more extended. By the time she was about three years old she was having episodes about once a month or so lasting for one to two days. In spite of multiple medical interventions for diagnosis and treatment, the cause of vomiting could not be determined and no suitable treatment was found.
During the years when Mollie was about four until she was about ten, she was admitted to the local children’s hospital about every four to six weeks for iv therapy. The episodes were lasting for two to four days. The nausea and vomiting was relentless. She would vomit about six to eight times an hour continuously except for some periods of sleep in between. She missed a great deal of school and the medical treatment needed was rigorous and left Mollie and our family in a wake of upheaval and deep distress.
In order to avoid the disruption of hospitalization, Mollie had central iv lines placed for home iv care over a period of about four years. Mollie’s medical support team searched for answers about cause and treatment as relentlessly as she was vomiting. Nothing was found and we continued to feel like we were the only family in the world with a child suffering from this miserable and mysterious illness.
Eleven years later, in 1990, by chance, our pediatrician found a letter to the editor in a medical journal describing a similar case. This letter led us to Dr. David Fleisher, MD, a pediatric gastroenterologist from the University of Missouri, Columbia. With Dr. Fleisher’s immediate assessment and treatment plan, Mollie’s condition began to improve at about the age of thirteen. Dr. Fleisher prescribed amitriptyline for Mollie at that time which brought improvement in the frequency, duration and intensity of the episodes. Mollie continues to take amitriptyline today. During late adolescence the vomiting episodes transformed into migraine headache. She suffered from migraine which started abating in her late 20s. Today, at the age of 35, she is essentially episode free with the exception of very short episodes of headache and/or vomiting triggered by anxiety or airline turbulence. Needless to say her life is much improved.
In 1999, Mollie was diagnosed via mitochondrial DNA samples with probable mitochondrial disease by a clinician and investigator doing studies about the relationship of CVS and mitochondrial disease. This diagnosis accounts for her mild cognitive disability.
In 1993, a handful of families from the USA and the United Kingdom came together in Milwaukee, Wisconsin for a weekend of comparing stories and making plans. Dr. Fleisher and Dr. B U.K. Li were present as well. Everyone gathered agreed to start CVSA – a medical non-profit. With the help of a strong and committed medical advisory team and some very dedicated patients, parents, and grandparents, there are now six CVS Associations around the globe and contact physicians and/or families in approximately thirty countries throughout the world. The global mission is one of outreach, education and research support. The Cyclic Vomiting Syndrome Association USA/Canada is at work in Northern America to find families still suffering in isolation and to promote and fund medical research to continue the search for answers about this devastating illness.
Of special note, it is not unheard of to have Social Services called in situations like Mollie’s in order to rule out cases of Munchausen’s Syndrome by Proxy. Ruling out this diagnosis is extremely important and relatively simple because of the unique symptomatology involved. The volunteers of CVSA are moving ahead with dogged determination to continue our outreach efforts to alert the medical community about CVS in order to prevent further unnecessary suffering in families that are already devastated by the effects of this illness.
Kathleen Adams, B.S.N., R.N.
President, Co-founder, Research Liaison
My daughter started getting her episodes around five years old. We would take her to her doctor and would be told it's just a stomach bug. Years of this stomach bug and yet my other two children never got this bug. Finally, her doctor wasn't available so we had to see the PA. She couldn't believe that we were never sent anywhere else to see what was going on. We were sent to a gastric doctor where they finally diagnosed her with CVS. This was after years of the doctor acting as if she was faking trying to get out of school. It's hard to watch your child vomit over and over. Its hard when your child won't eat a single bite of food for weeks on end. It's hard when your child drops more than ten pounds a week. It's hard when there is nothing you can do to help them. We now know when an episode is coming on. Her symptoms are mild headaches followed by mild stomach pains and nightmares or night terrors. Then the severe vomiting and severe stomach pains. Her episodes have lasted as long as a month. We have gotten those episodes down to a couple weeks. I am glad we have found out it wasn't a stomach bug. I would rather it have been a stomach bug, but never heard of a bug lasting so long and so severe. We have changed doctors, the doctor she has now has not accused her of faking it. We are going through an episode right now which I believe is brought by the anticipation of going to her first time in summer camp. We had to change her camp date but we will prevail.
My name is Katelynn Leonardelli. I am 20 years old, and I have been dealing with CVS for 15 years of my life. I am currently being treated by Dr. Lee in Milwaukee and rarely have episodes, but I have had a long journey to get to this point. I really would like to share my story and give others hope that you can find treatment and get back to living a normal life without episodes.
It started when I was five years old and in kindergarten, I would have random days when I would get up for school early in the morning and throw up until around 1030. At first my family assumed it was just a persistent stomach flu but after these symptoms were on going throughout the years, they knew it wasn’t. My family and even my doctors were puzzled by these strange symptoms. During my episodes, I couldn’t keep anything down and would throw up multiple times until I felt well enough to eventually start consuming water. These symptoms lasted throughout grade school and into high school, some years, even months having multiple episodes and some having none. I went to multiple doctors, have had two scope procedures and many other tests, but everything came up negative. For awhile, people thought it was my anxiety or just thought I was faking it, which got pretty frustrating.
Things started to go downhill during the beginning of my sophomore year of high school. I woke up and knew right away that I was going to have an episode and as always my mom allowed me to stay home from school. The next day the same thing, I woke up to an episode, I was used to this because most of the times when I have episodes they happen two or three days consecutively. But as the week went on so did the episodes. I got to the point where I missed a full week of school and the episodes weren’t stopping. My family set up appointments with my counselor and teachers to inform them what was going on and what the next action was to take. For the next thirty two days my school day went as followed: I would wake up overflowing with anxiety (knowing I was going to have an episode) puke multiple times until my car pool came to pick me up. I would carry a plastic bag with me and usually puke a few times in the car (one time I forgot to bring a bag and had to puke on the side of the car). When I arrived at school I checked in with my homeroom teacher and went straight to the second floor guidance room. There they had a small supply closet that they let my use, it was about 10ft long and 7ft wide. They gave me a waste basket and let me sit there until I was done with my episode and could go to school around 10:30am. I was horrible, I remember I tried to puke quietly because I didn’t want anyone to hear me let alone open the door and see me puking. I remember when I was in the car one day one of my friends mom made a comment like, ‘I think it might be your anxiety. Why don’t you just try to take deep breaths?’ Even my homeroom teacher questioned me once thinking that I was faking it to try to get out of school. One day I remember sitting on the floor in my kitchen feeling so hopeless, thinking that I would have to plan my job, my school, my life around my episodes.
My mom was trying to comfort me when all of a sudden she remembered something that my doctor mentioned years ago, Cyclic Vomiting Syndrome, but since there was no way to prove it and I was an atypical case they just pushed the idea to the side. We immediately went on the computer and searched the symptoms, and I fit them like a glove. That was the first glimmer of hope that I had in awhile. We called my doctor right away and he told us about on of the leading CVS doctors who happens to be right in my own town! I was ecstatic! I counted down the days until my appointment. Finally the day came and Dr. Lee started me on the drug called “amytriptylne”, which happens to be the same drug that my mom takes for her migraines, and who would have guessed, but it worked!
I have my life back. I can finally wake up in the morning without worrying about having an episode and missing out on anything. I am writing this not to make people feel bad for what I went through but to give them hope that their life can turn around and things can get better.
Submitted by: Colleen Rice
Among many support groups for Cyclical Vomiting there is very often a loud call for “FIND A CURE NOW” the pressure from parents asking and sometimes begging make this horrible thing go away. I’ve heard we can send man to the moon but we can’t cure cancer, CVS etc. I like to point out that the common cold has affected more people still has no cure as well. So, here’s my take on why I think there’s never been a better time to have CVS diagnosis.
Recently my 10 year old son and I read”The Apprenticeship of Lucas Whitaker”over Thanksgiving break. As a family we are very much into FIRST Lego League, and we were reading this as part of research for next years WORLD CLASS Challenge. Next years challenge is looking at how kids learn in the 21st century. This book came recommended by our favorite librarian friend, as being a great book that was an example of common ways that children learned in other places and in different ways outside of the classroom. You see, Lucas is the sole survivor in his family as the rest have died from an illness had no cure or as far as anyone knew. He stumbles into a neighboring town lost and looking for direction following his mothers death. He happens to find a sign on a door that says help wanted. lucky he knew how to read, apparently not a common skill in that area. The person looking for the help is a doctor who then take Lucas in as his apprentice.
Why you might be asking why am I bothering to tell you all this. This simple story of a snapshot of American history and culture is classic and a reminder every parent of a sick child needs to remember. In the historical fictional story, you learn the doctor’s sister who used to live in the city, has an obsession with washing which comes across as a mental condition to Lucas. Why was she making him bath everyday in the dead of winter (keep in mind it was the 1800 when there was no easy hot water heater other than a pot of water and a stove ). This sister was in fact ahead of her time, having learned about the importance of washing to avoid illness. Today that sounds like a no brainier….but back then it was groundbreaking that it was revolutionary. It was not that people were dumb, bathing was not a practical thing when you consider the evolution of indoor plumbing and such.
It not difficult when you realize that these people were doing the best with the information they have. There was no internet to google a condition, or even a pediatric specialist of these things to take your child to. Personally, I believe many server cases of CVS in these days probably resulted in death due to dehydration. As a parent of a CVS child, you have seen how fast a child who is retching 10x an hour can dehydrate. We are blessed that we can take our child to a hospital by driving our warm cars in the dead of winter to the local hospital maybe 2 hours away or less… There we meet a team of doctors and nurses who though probably unfamiliar with CVS, can easily spot the need for IV fluids, and also have the supplies readily on hand to administer this life saving treatment to our children.This is a luxury many parents at other times in human history never even had the option of. There has never been a time in history to have CVS.
OK so your thinking, yeah I know we’ve come a long way but everything has… that’s a lifetime ago and I can’t relate to that. Let me tell you another story, my story of what it was like being a child in 1980’s having CVS. Everyone knew when I threw up I never stopped, and dry heaved for hours to the point of bile and would lay there in what I know now to be call a conscious coma. The doctors never knew what to think when my mom brought me. My parents had a friend who was a pharmacist who recommended Emetrol which only seemed to aggravate the vomiting. If I was finally to be admitted to the hospital for this which only happens 3x in my childhood, the nurses would tell my parents I was just being stubborn and I needed to stop. They also pushed fluids orally non stop which as you have come to realize probably is the last thing to do during the height of a cycle.
My parents stopped bringing me to the doctor for it and we always rode it out home which felt like torture. I on some level carried such guilt… why could I not throw up like everyone else? Why would the sound of someone flushing the toilet trigger such horrible retching over and over again? Why could I not swallow or take sips and keep them down like everyone else? The problem must be me…I must be weak or so I’d think to myself every time I got sick. It in no way saying my parents neglectful at all,they did the best the could with the knowledge they had and the resources available to them. The next time we sought treatment for an episode was in 1991 when my kidneys started to shutdown during an episode.
Thankfully after this episode it seems to resolved itself exept for when big life changes occur…such as graduation from college or after my wedding and even those were mild. Then came our first child and for the first time in my life oddly enough, I could puke and be fine! I realized there’s something different going on here.. I can puke and still make dinner and not be down for days. Then our 3rd child was born, and by the time he was 3 I knew he puked like me, but never did I imagine it would progress to the world wind of a thing it’s turned into. I knew when he had his tonsils out he needed to have extra IV fluids to aviod a cycle like I did when I had mine out. But it was not until 2012 that this puking thing had a name, and more than that there were things you could to to help.
So for some the diagnosis of Cyclical Vomiting Syndrome is overwhelming and unfamiliar. For me it was a name to an enemy that plagued my childhood and made me fear vomiting. For me to learn its name and that there was a plan was a time of sheer and utter joy. My son does not have to lay on the floor on the verge of passing out for days, he is blessed to go into the hospital and get the IV fluids and meds needed to stop further damage from being done to his frail and weakened body. He has tears in his stomach from the forceful retching at the tender age of 6. He’s been hospitalized over 20x in his life for this condition in the last 2 years alone. Without these hospitalization, I can say with almost certainty that he would have died long ago if had not been for the medical advances today that many take for granted.
When my son ends up in the hospital, I am nothing but grateful!
There has never been a better time to have CVS.
We don’t have a cure…and I’m OK with that…Because what we do have is a lot!!! We now know more about what it is as a migraine variant. We have drugs we can give to try to reduce severity and frequency. We also know that if all that fails we can give meds and fluids needed to ride out the cycle! These things are a huge step from 30 years ago! I am just starting to learn the mito-component and it again seems like a huge blessing and that we are taking huge steps to a better quality of life for these kids. It will be part of their lives, we can’t change that…. what we can teach them is that they can get through this and that we as caregivers will be there to help. We will continue to seek out answers and better ways to help and minimize CVS’s interruptions in our lives.
Til then It’s Stay Calm and Puke on!
My daughter, Alyssa, was diagnosed with CVS. Alyssa has always been an over achiever. This year she is attending college her senior year, playing sports such as soccer and softball, and works for the city of recreation doing coaching and ref games. Plus, she was looking for a second job!
Four months ago, when soccer began, she started having this gag reflex. Being a person with exercise induced asthma, we thought it was because she was using her inhaler more. Within 2 months, she started vomiting once a day. At first it we thought it was because she would over eat at dinner. Being on the go a lot, she would skip meals because she didn’t like to eat before practice or a game. She said it would make her a sick. By Thanksgiving and Christmas break, she would vomit after every meal.
We saw her doctor the first week of January. She had weighed 96 lbs. which was a surprise to my daughter. At 4″11 she always weighed around 100-105 when playing sports. Her doctor ran some blood test, but by the end of that week she had dropped down to 86 lbs, and that’s when we had her admitted to the ER.
She was on an IV for a week while they ran every test possible, and yet they still couldn’t find out why she couldn’t hold any food down. A friend told us about CVS, she had found it online. We brought it to the doctors attention, and we asked for them to start her on a white rice diet. At first, only a palm size came up every 10-20 minutes for an hour and then it all started to stay down. Now she is home eating chicken/turkey with rice. Almond milk works; so I make pancakes and try other recipes with it, but not all meals work.
It is definitely a life changing experience. She had to quit soccer, but is hoping to be well enough by softball season.
BY Philippa Bridge-Cook, PhD
Tuesday, January 28th, 2014
Cyclic vomiting syndrome (CVS) is a debilitating disease characterized by episodes of severe nausea and persistent vomiting interspersed with periods of wellness. CVS affects about 2 percent of school-aged children, and also affects adults, although in adults it is often not recognized. Getting a diagnosis can be challenging, and sometimes takes a long time. Episodes of CVS can be extremely debilitating, and are sometimes difficult to treat and require hospitalization.
My daughter has suffered from this disease for 10 years, since she was 2 years old (see her story here). Her episodes were somewhat predictable when she was younger, but have changed and become less predictable, and more difficult to manage with medication, as she gets older. Although we try to avoid triggers such as stress and fatigue, being a pre-teen girl, she likes to have sleepovers with her friends and stay up chatting all night. Unlike other pre-teen girls, however, she suffers the aftereffects of the sleepovers sometimes by vomiting for 24 hours or more.
What Causes Cyclic Vomiting Syndrome?
Although it has long been thought to be related to migraines, many sources state that the cause of cyclic vomiting syndrome is not known. Mechanisms that may be involved include episodic dysautonomia (malfunction of the autonomic nervous system that can result in a variety of symptoms), mitochondrial DNA mutations that cause deficits in cellular energy production, and heightened stress response that causes vomiting. However, there is mounting evidence for the role of mitochondrial dysfunction in the pathogenesis of this disease, a fact that is not often understood by the average practicing gastroenterologist. The connection to mitochondrial dysfunction has important implications for effective treatment of cyclic vomiting syndrome.
Mitochondrial Dysfunction, Cyclic Vomiting and Other Conditions
Mitochondria are small organelles within the cell responsible for energy production and other critical functions. Because of these crucial functions, Dr. Richard Boles, Director of the Metabolic and Mitochondrial Disorders Clinic at Children’s Hospital Los Angeles, explains that “30 years or so ago, many scientists couldn’t believe that mitochondrial disease could exist, because how does the organism survive?” However, mitochondrial dysfunction plays a role in many diseases, including CVS, and according to Dr. Boles:
“these are partial defects. Mitochondrial dysfunction doesn’t really cause anything, what it does is predisposes towards seemingly everything. It’s one of many risk factors in multifactorial disease. It can predispose towards epilepsy, chronic fatigue, and even autism, but it doesn’t do it alone. It does it in combination with other factors, which is why in a family with a single mutation going through the family, everyone in the family is affected in a different way. Because it predisposes for disease throughout the entire system.”
DNA mutations that affect mitochondrial function can occur in the DNA that is found in the nucleus of the cell (genomic DNA), or they can occur in the DNA that is found within the mitochondria themselves. Mitochondrial DNA is inherited differently than nuclear DNA. Most people are familiar with the inheritance of nuclear DNA, in which we have two copies of every gene, and we inherit one copy from each of our parents. However, mitochondrial DNA is inherited exclusively through the mother; therefore, mutations that affect the mitochondrial DNA can be traced through the maternal lineage of a family.
A possible relationship between cyclic vomiting syndrome and mitochondrial dysfunction was suggested by the finding that in some families, CVS was maternally inherited. Mitochondrial DNA mutations and deletions have been reported in patients with CVS, and disease manifestations of mitochondrial dysfunction have been found in the maternal relatives of patients with CVS. In other words, conditions such as migraines, irritable bowel syndrome, depression, and hypothyroidism, are often found in the maternal relatives of patients with CVS.
Mitochondrial DNA mutations don’t cause CVS directly, in the way that a DNA mutation causes cystic fibrosis, for example. In some patients, mitochondrial dysfunction plays a greater role in the causation of their disease, and in other patients, it may be less of a factor. Dr. Boles explains: “In some cases it’s a clear mitochondrial disorder, they have multiple other manifestations and it drives the disease. However, in most patients, it is one of many factors in disease pathogenesis.” Patients with classical mitochondrial disorders have disease manifestations such as muscle weakness, neurological problems, autism, developmental delays, gastrointestinal disorders, and autonomic dysfunction. Some patients with CVS have these other disease manifestations, and some have only CVS symptoms.
Treatment for Cyclic Vomiting Syndrome and Mitochondrial Dysfunction
As with many diseases, understanding as least some of the cause of CVS has allowed for the development of treatments tailored towards fixing the root cause. Co-enzyme Q10 and L-carnitine are two dietary supplements that have been used to treat a wide variety of conditions. Both supplements may be able to assist the mitochondria with energy production and thus, help compensate for mitochondrial dysfunction. A retrospective chart review study found that using these two supplements, along with a dietary protocol of fasting avoidance (having three meals and three snacks per day), was able to decrease the occurrence of, or completely resolve, the CVS episodes in some patients. In those patients who didn’t respond to treatment with supplements alone, the addition of amitriptyline or cyproheptadine, two medications that have been used for prevention of CVS episodes, helped to resolve or decrease the episodes. Treatment with the cofactors alone was well tolerated with no side effects, and treatment with cofactors plus amitriptyline or cyproheptadine was tolerated by most patients. Therefore effective treatment for prevention of CVS episodes does exist, although it may not be widely employed by most gastroenterologists.
My daughter is currently trying to treat her CVS with the combination of co-enzyme Q10 and L-carnitine. So far she hasn’t experienced any side-effects, and over the next few months we will see if she experiences a decrease or even a complete cessation of her episodes. My hope for her is that she won’t have to choose between missing out on a fun night with her friends, and being able to be functional for the rest of the weekend. Maybe she can be like every other teenager and go to a sleepover, and just be grumpy the next day, instead of spending the next day vomiting and lying on the bathroom floor in pain.
Dr. Richard Boles, MD: Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, an attending physician in Medical Genetics at Children’s Hospital Los Angeles, and Medical Director of Courtagen Life Sciences. Dr. Boles practices the “bedside to bench to bedside” model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics (DNA testing) and research. Dr. Boles’ clinical and research focus is on polymorphisms (common genetic changes) in the DNA of genes involved in energy metabolism, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease.
I am 24 years old, a marketing/public relations professional, road race runner, and a basketball enthusiast. One thing that most people don’t know about me is that I have been suffering from a rare disease (Cyclic Vomiting Syndrome) for about 18 years. When I was diagnosed in first grade I was lucky that we lived in Waukesha County near Children’s Hospital of Wisconsin, where there was a specialist to see.
Living with CVS is difficult and most people don’t understand that certain normal activities for them can cause an episode for CVS sufferers. I have been to the ER numerous times, had extended stays at the hospital, and been through too many tests to count. Throughout the years I have learned to stay away from certain things in order to prevent an episode, but I don’t let it control my life.
I was able to go away to college and I graduated Summa Cum Laude from Valparaiso University. Since high school I have participated in numerous running races including half marathons. Lastly, I am a young professional living on my own.
I think that it is important for younger CVS sufferers to not let CVS stop them from participating in sports, musical activities, and other extra curricular activities.
CVS controlled my life for a year. It was devastating to both me and my family. It took several doctor visits and hospital stays before we even began to understand what was happening to me. I would be fine for weeks, then out of nowhere, I would have crippling pain and uncontrollable vomiting for days.
I had to withdraw from the university I was attending because I was unable to keep up with my studies and manage CVS all at once and I was (for a while) unable to keep a job. Since CVS isn’t very common, it wasn’t unlikely for people to think I was lying about my condition or just “looking for attention”. It was extremely discouraging and stressful to hear employers and even some friends to express their disbelief about my claims. Eventually, I realized I could no longer care for myself alone and moved back home with my parents for the extra care and support.
The process of finding a diagnosis was miserable. I went through almost every test imaginable, tried multiple medications, and even had my gall bladder removed.
Thanks to my wonderful determined mother who spent hours doing research we finally had an idea of what was going on with me. After dealing with CVS for some time, my doctors and I were able to figure out what medications helped with symptoms and what steps to take to lessen the severity of the episodes. Now that I have my CVS more under control I am able to return to school and work without worrying about fits of vomiting very often.