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Quick Thoughts: Hyperemesis and Early Thiamine Deficiency

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A while back, I published an article about expanding the symptoms considered to be associated with thiamine deficiency. Conventionally, we tend to look only at the end stage results of long term thiamine deficiency as being the indicators of disease, forgetting that to get to this stage there was a prodrome, which, except in rare cases, proceeds across many months, if not years. Even with a severely thiamine restricted diet, it can be weeks to months before the more traditionally recognized neurological or cardiovascular symptoms manifest. A series of studies conducted in early 1940s found that among the most common early symptom of thiamine deficiency was GI dysfunction ranging from nausea, vomiting, and constipation, to severe food intolerances and complete anorexia. The prominence of vomiting in this scenario got me thinking about hyperemesis, the severe and near continuous vomiting experienced by some women during pregnancy, but also, about the exploding numbers of illnesses that involve GI dysmotility and dysbiosis. From IBS to SIBO, gastroparesis to constipation and really everything in between, could they also be a consequence of insufficient thiamine? According to the research, yes. Indeed, these non-pregnant cases of GI dysfunction, easily fall under the umbrella of gastrointestinal beriberi – thiamine deficiency that manifests in GI system, sometimes months before the onset of the more traditional cardiovascular or neurological forms.

Pregnancy, Vomiting, and Thiamine

With pregnancy, we know that the energy demands upon the mom are enormous, which means that given its role in energy metabolism, thiamine demands are enormous as well. Some older research estimates the demand for thiamine increases by at least 5X that of a non-pregnant woman. Other research, which I seem to have lost the reference for, posited the demand increased by a factor of 10. Personally, I believe the demand and need for thiamine and other nutrients during pregnancy is higher yet.

The RDA for thiamine during pregnancy is 1.4mg per day, just a fraction over the RDA for non-pregnant women (1.1mg). A quick scan of prenatal vitamins shows that most include from 1.5mg – 3mg of thiamine, woefully below the estimated need of 5-10X non-pregnant levels. That discrepancy alone could cause problems in women who may have been borderline thiamine deficient pre-pregnancy. The pregnancy itself would tip her over into deficiency territory. This then could very easily lead to increased vomiting, which then would further hamper the intake and absorption of thiamine, exacerbating the deficiency, and cause more vomiting; a cycle that becomes especially dangerous to both mom and the baby as time progresses.

While it is easy to see how thiamine deficiency is a common consequence of hyperemesis, it is possible that it is also a contributing cause. Dr. Lonsdale and others have long asserted a role for thiamine deficiency as a causative contributor to hyperemesis. Just based upon the estimated need versus the availability in prenatals and diet, especially once vomiting has begun, this makes sense. Importantly, these types of symptoms have been observed across many case studies unrelated to pregnancy, so much so that gastrointestinal beriberi is a legitimate, though woefully under-recognized form of thiamine deficiency disease. As mentioned previously, the symptoms include GI distress in the form of vomiting, gastroparesis (delayed stomach emptying, which results in vomiting), disturbed GI dysmotility, either too much or too little, and dysbiosis. All of this is documented to be attributable to insufficient thiamine in non-pregnant people. Is it so difficult to see that pregnancy too could elicit or exacerbate gastrointestinal beriberi?

But Wait, What About Carnitine and CoQ10?

If you follow my work, a few years back I mapped one of the causes of hyperemesis to a carnitine deficiency. Carnitine is critical to the metabolism of fatty acids, and its deficiency along with another mitochondrial co-factor, CoQ10, have been linked to a condition called Cyclic Vomiting Syndrome (CVS). Supplementation with l-carnitine and CoQ10 appears to resolve the vomiting with CVS. After publishing that paper, anecdotal reports came back suggesting that l-carnitine and CoQ10 was useful in preventing and resolving hyperemesis. I believe that it is still involved in many cases, but it is possible that thiamine is involved as well and it may be a contributing factor to the carnitine deficiency. Thiamine, in addition to its role in key enzymes involved in carbohydrate and protein metabolism, is also involved in fatty acid metabolism and positionally, it sits a step above carnitine.

Here we have a few options beyond the traditional and largely ineffective anti-emetic medications given to women with hyperemesis; options that I would argue are significantly safer and healthier for mom and baby and likely far more effective. If thiamine and/or l-carnitine deficiency are at the root of hyperemesis, correcting those deficiencies early should give women a much easier and healthier pregnancy.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This article was published originally on May 24, 2021. 

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Cyclic Vomiting Syndrome and Mitochondrial Dysfunction: Research and Treatments

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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.

Postscript: Using this advice, we were able to manage my daughter’s vomiting. Here is the follow-up story.

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This article was first published on January 28, 2014. 

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Contemplating Cyclic Vomiting Syndrome

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Cyclic vomiting syndrome (CVS) is classified in the medical literature as a “functional” disorder, characterized by stereotypical episodes of intense vomiting separated by weeks to months of wellness. Although it can occur at any age, the most common age of presentation is between three and seven years. There is no gender prominence. The precise pathophysiology is not known but there is a strong association with migraine headaches that affect the patient as well as the patient’s mother, indicating that it may represent a mitochondrial disease. I will explain this association later in the post. These authors have used the word functional appropriately since they indicate the role of mitochondria and report that studies have suggested that an underlying autonomic neuropathy involving the sympathetic nervous system (part of the automatic nervous system) is at fault.

What is a Functional Disorder?

The word “functional” is often used as being virtually synonymous with “psychological” in describing a disease entity. So describing CVS as “functional”, suggests that it is generally regarded as having a psychological background. Indeed, my perusal of the CVS medical literature indicates that the only treatment to try to prevent recurrent episodes is the use of antidepressant drugs. It is as though the act of repeated vomiting is thought of as a process by which the patient is reacting to a state of depression. I have long tried to understand how this term could be used with such a lack of thought concerning the underlying mechanisms. The point that I am trying to make here is that whether we like to recognize it or not, the human brain is a machine that relies on chemistry that is used to supply energy. Therefore, the only proper use of the word “functional” is to describe a change in function due to abnormal structural or electrochemical action.

Mitochondria are literally the “engines” that provide each of our cells with the energy that enables them to function. They have their own genes, inherited only from the mother, and that is why Kaul and Kaul mention the association of migraine headaches in the patient as well as the mother. The autonomic nervous system is controlled automatically by the lower part of the brain and is not a thought process. It provides us with the machinery whereby energy is converted into both physical and mental action. In addition to all this, we have to remember that the genes in the mitochondria, like our cellular genes, also can have mistakes in their construction. Therefore, a breakdown in function has either a genetic background that can be either a defect in the cellular genes, inherited from both parents, or the mitochondrial genes inherited from the mother. The only thing that we can do is either replace the faulty gene (the current attempted approach) or provide the ideal fuel (nutrients) which enables mitochondria to generate the necessary energy.

It is worth noting here that when each one of us is faced with a mental or physical stress (including infections) a surge of energy is required to meet that stress and possibly explains why a given infectious agent has no deleterious effect on one individual, whereas another succumbs to the disease. Can the state of nutrition be that important? My answer is, yes undoubtedly. So let us see if there are other published statements in the medical literature that might support such an answer to the underlying mechanisms of CVS.

Cyclic Vomiting and the Autonomic System

Several cases of CVS are described in chapter 5 of our new book, Lonsdale D, Marrs C. “Thiamine Deficiency Disease, Dysautonomia and High Calorie Malnutrition”, all of whom responded to supplementary thiamine. I scanned the CVS medical literature to see what else has been written to make this connection. I found a manuscript describing the case of a 29-year-old woman with type I diabetes from 10 years of age who developed adult CVS. Beginning at the age of 25 years she was frequently hospitalized for what was described as “stress-induced vomiting” implying a psychological background. Diabetes has been found to be potentially therapeutically related to thiamine supplementation, suggesting that the CVS was thiamine related. I discovered a manuscript reporting a 27-year-old pregnant woman with CVS at the 12th week of gestation. The vomiting was treated symptomatically with a drug that suppresses autonomic nervous system activity.

The book by Lonsdale and Marrs describes how the autonomic nervous system becomes deranged with thiamine deficiency. That is why the word “Dysautonomia” appears in the title. John B Irwin’s book: The Natural Way to a Trouble-Free Pregnancy: The Toxemia/Thiamine connection describes his dramatic experience with the use of supplementary thiamine in pregnancy. This is a book that should be obtained by anyone even contemplating pregnancy.

Lastly, CVS has been described in association with a genetically determined form of autonomic dysfunction. Thiamine deficiency during pregnancy is devastating to the fetus as well as the mother. There is reason to believe that a legacy from this continues in the newborn infant who survives at a marginal asymptomatic level, perhaps succumbing to CVS between the ages of three and seven years because of some unidentified trigger. We know from history that thiamine deficiency can fluctuate, providing what is well-recognized as a prolonged morbidity. The lower part of the brain, highly sensitive to even a mild depreciation in energy metabolism, contains a “vomiting center”, stimulation of which will cause vomiting. Thiamine deficiency is probably the commonest cause of defective energy metabolism, thus providing the stimulation.

Points of Consideration

CVS is a surprisingly common condition and readers of this post are likely to have at least known of a case, if not experiencing it in one of their children. The first impact from this post would naturally be skepticism, since it connects thiamine metabolism to three different states of health, including pregnancy. Skepticism would stem from current acceptance that each disease is a separate entity requiring a specific drug that has to be found as the cure. To read Irwin’s book is an absolute eye-opener in our attitude towards a healthy pregnancy. To find that migraine and CVS might be connected because of dysfunction in a nervous system, about which many of us have total ignorance, is jolting.

The evidence is mounting that disease is a result of a failure to meet the energy demands of the brain/body and that it often starts with everyday symptoms that are disregarded as psychological. I have used the analogy that the body is like an orchestra. The brain is the conductor of the orchestra and perhaps the leader of the orchestra is thiamine. The leader enables an orchestra to come together in unison under the baton of the conductor. It is unthinkable that the conductor of an orchestra would be able to function if he was himself sick. Beethoven, in his deafness, could not conduct the orchestra in the opening performance of his ninth Symphony and the orchestra was told to ignore Beethoven and perform according to the baton of an assistant. Perhaps the same would apply if the all-important leader were sick or missing.

Every cell within an organ, like an instrumentalist in an orchestra, has a specific function and “to and fro” communication with the brain is essential to the orchestration of function. Genetically determined structure of cells or their mitochondria may or may not be 100% normal, but no function is possible without the energy derived from “burning the right fuel”.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This article was published originally November 15, 2017. 

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Two New Cases of Beriberi-like Syndromes: Thiamine Deficiency in Modern Medicine

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As a result of my participation in Hormones Matter, I receive quite a few emails that record histories of patients who have often languished with inexplicable symptoms, sometimes for years. I am going to record two histories here without identifying any possibility of the involved patients being recognized.

Patient number 1: Cyclic Vomiting, Hyper-salivation, Sensory and Neurological Issues

This is the story of a boy who had what was described as “chronic cyclic vomiting from 11 months until 24 months of age, sometimes 3 to 4 times a day”. Food refusal with chronic vomiting and severe weight loss (failure to gain) was described. His diet was recorded as consisting basically of chicken/beef and vegetables. Frequent use of Paracetamol for ear infections with fever was described. As an infant he experienced hyper-salivation, bad enough for wearing a bib 24/7. Extreme sensory issues were mentioned but were not specified. Dilated pupils from a very young age***, neurological issues with confusion, memory problems, speech difficulty and heart racing/palpitations were mentioned together with eye tracking difficulties. A high concentration of arsenic had been found, presumably in urine, although this was not specified. Candida, a form of yeast, had evidently been a frequent infection. He was reported to have Hashimoto (a thyroid dysfunction) and a high blood glucose ***. He exhibited complete lack of coordination, always “appearing drunk”, talking gibberish and repetitive behavior.

Discussion of Symptoms: Patient 1

Cyclic Vomiting

Sometimes known as winter vomiting, the cause of this relatively common condition is said to be unknown. Recurrent vomiting is one of the symptoms recognized for centuries in the thiamine ( vitamin B1) deficiency disease, beriberi. I had several patients with cyclic vomiting, described in our book (Thiamine Deficiency Disease, Dysautonomia and High Calorie Malnutrition) that responded to thiamine treatment.

Food Refusal

Appetite is governed in the lower brain by several hormones, explaining why a voracious appetite and food refusal could both be a signature of thiamine deficiency, depending on severity and chronicity of the deficiency.

Weight Loss

Severe weight and stature increase (failure to thrive), is a signature finding in familial dysautonomia, a genetically determined disease. Thiamine deficiency also causes dysautonomia. I reported a patient with eosinophilic esophagitis whose dysautonomia resulted in failure to thrive. With thiamine treatment his weight and height increased dramatically (see: Eosinophilic Esophagitis May Be a Sugar Sensitive Disease).

Ear Infections

Extremely common in children, this and jaundice of the newborn are both now known to be the result of inefficient oxygen utilization. Thiamine deficiency is an outstanding cause.

Excessive Salivation

The salivary glands are under the control of the lower brain and this fits with thiamine deficiency.

Extreme Sensory Issues

This is the result of inefficient oxidative metabolism in brain and has been a well known problem in thiamine deficiency beriberi. It is interesting that diabetics are sometimes pulled over and accused of drinking because of erratic driving and subsequent “drunken” behavior. I strongly suspect that this is a thiamine deficiency affect, because thiamine metabolism has recently been found to be closely related to metabolism in diabetes.

Permanently Dilated Pupils ***

This is a cardinal sign of sympathetic nervous system overdrive, fitting in with the diagnosis of dysautonomia.

Neurological Issues: Confusion, Memory, Speech, and Eye Tracking Problems

All of this is the result of inefficient oxidative metabolism in brain.

Tachycardia

This is the term for a fast heart rhythm and is a cardinal sign of dysautonomic sympathetic nervous system overdrive.

Urinary Arsenic

Pressure-treated wood in the United States contains a significant amount of arsenic and is generally touted as being the source for children using playgrounds. This is much more significant than arsenic in drinking water. Arsenic damages oxidative metabolism and could be contributive to the effects of thiamine deficiency.

Candida Infections

Candida is a common form of yeast that infects humans. It dislikes oxygen: consequently this infection is much more likely to occur in people whose oxygen metabolism is inefficient.

High Blood Glucose***

Of course, this means that the patient has some form of diabetes. Both type I and type II diabetes are now known to have thiamine deficiency as part of the syndrome. Alzheimer’s disease may be diabetes type III. Thiamine is absolutely vital in glucose metabolism.

Pattern Suggests Pyruvate Dehydrogenase Complex Disease

Pyruvate dehydrogenase is an enzyme that demands thiamine and magnesium in order to function properly. I would be willing to bet that this boy would be responsive to high doses of Lipothiamine and should be studied in detail by a physician who understands the possibility of inborn errors of metabolism. Note the two starred items above. The observation of permanently dilated pupils indicates excessive activity of the sympathetic branch of the autonomic nervous system. The high blood glucose is a sure indicator that thiamine metabolism is involved, even if there is insulin deficiency.

Patient number 2: ROHHAD

This is a little girl, age not specified. She was described as a patient with ROHHAD. This stands for “rapid onset weight gain, hypothalamic dysfunction and autonomic dysregulation”. The parent described this as “a very rare syndrome and only 150 cases have been recorded worldwide”. Children with this diagnosis are said to have similar symptoms. Most of them have central and obstructive sleep apnea. Many depend on CPAP. This child requires it only during sleeping but many other kids have tracheostomy and all are living on CPAP day and night.

Symptoms of patient 2: Sweaty Palms, Cold Intolerance, Tachycardia and More

At my request, the parent observed that there was no family history of alcoholism or smoking. The mother had been thinking of thiamine deficiency because of the child’s autonomic dysfunction. I have noticed that alcoholism and sugar sensitivity appear to be closely related genetically.

She has palm sweating. Father has blepharospasm (spasm of the eyelids) frequently, lasting for weeks at a time. She also has tachycardia (fast heart rate), excessive vomiting, cold intolerance with persistent cold extremities, peripheral neuropathy, binocular diplopia, double vision, gastrointestinal dysmotility, mood swings, and low pain perception are all symptoms of dysautonomia, the commonest cause being thiamine deficiency. Fortunately the family is working with a physician who had started thiamine treatment for this child. The parent closed with the remarks that “since she started TTFD she is having a fast heart rate at 140 beats a minute and low oxygen saturation with restless sleep. I decreased TTFD from 250 mg to 50 mg but my opinion is that she became more stable with oxygen saturation and pulse rate”.

Discussion of Symptoms: Patient 2

ROHHAD

Rapid weight gain, hypothalamic dysfunction, dysautonomia and sleep apnea are all included in this syndrome. I must point out that the word “syndrome” is always used for a collection of symptoms whose cause is unknown. In fact, all can be caused by thiamine deficiency.

Palm Sweating

Sweating is a result of sympathetic nervous system overdrive. She also has tachycardia, excessive vomiting, cold intolerance, peripheral neuropathy and double vision. Various forms of peripheral neuropathy are cardinal symptom in thiamine deficiency.

Gastrointestinal Dysmotility

The intestine is innervated by the vagus nerve which originates in the brain. This nerve uses a neurotransmitter known as acetylcholine, highly dependent on energy metabolism and therefore also dependent on thiamine. Japanese physicians have used thiamine derivatives for years to treat postoperative intestinal paralysis.

Mood Swings

I learned the hard way about mood swings in children when I found that the dominant cause was poor diet resulting in thiamine deficiency.

Low Pain Perception

Decreases in pain perception are described in familial dysautonomia, a genetically determined condition. Thiamine deficiency results in dysautonomia and may well be responsible for low pain perception.

Points of Consideration: Polysymptomatic Disease and Thiamine Deficiency

Both these children have fallen into diagnostic cracks. It seems only to be the persistence of struggling parents that do their own research and persist in trying to find an adequate explanation that addresses the plight of these children. To me, the problem is obvious. Polysymptomatic disease that affects so many body systems can only be explained by some form of energy deficiency, dependent on oxidative metabolism. Thiamine deficiency, arising from both genetic and nutritional abnormalities is a common cause. It could be a simple thiamine deficiency from diet but this is unlikely in the case of these two children who may have a genetically determined condition that is responsive to megadose thiamine.

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Cyclic Vomiting Syndrome

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Philipa Bridge Cook

Before I even wake up fully, my ears register the sound of my twelve year old daughter throwing up. It is such a familiar middle of the night sound for me that it has ceased to be alarming. She has been throwing up on a regular basis since she was 2 years old, in episodes that come and go, usually lasting one to two days. The vomiting that comes with these episodes is violent, frequent, and often accompanied by severe abdominal pain. Without medication, she will vomit every 10 to 15 minutes for hours; luckily, for the last few years, we’ve sometimes been able to successfully treat these episodes with medication.

Sometimes her episodes last longer, like one recent very bad episode where she was sick for 6 days on and off. At times during that episode the vomiting was controlled by medication, but not always. When her medication didn’t work, she would lie on the bathroom floor and moan, and say “Mommy, help me,” or worse, “Mommy, I can’t live.” We have been told that the medications we give her—prescription Zofran, over the counter dimenhydrinate (Dramamine), and Tylenol and Advil—are the only options, and that there’s nothing else we can do. But when I see her suffering, I have to believe that there must be something more that can be done, because nobody should suffer like that, especially not a child.

When she was younger, the episodes would come every month or two. She is my oldest child, and for a long time I assumed she was just very susceptible to getting stomach flu, and that she was severely affected every time she got a stomach virus. As my other two children got older, and I realized how unusual the severity of her vomiting was, and the frequency of her episodes increased, I started to suspect it was something bigger than just stomach flu. I mentioned my concerns to her doctor, and he agreed, and suggested it might be cyclic vomiting syndrome.

Cyclic vomiting syndrome, or CVS, is a poorly understood, and under recognized disorder. Although it was originally thought to be a pediatric disorder, it is now known that it can occur in all ages, and that it is more common than previously thought. It is characterized by episodes of severe nausea and vomiting that alternate with periods with no symptoms. Some patients with CVS have symptoms in addition to nausea and vomiting during episodes such as headache, dizziness, fever, sensitivity to light, and diarrhea. For each individual with CVS, the episodes are similar to each other: they generally start at the same time of day, include the same symptoms, and last the same length of time. For my daughter, she always started vomiting in the middle of the night or early in the morning, it lasted about a day, and occurred every month or two. As she gets older, everything about her episodes has become less predictable. They have sometimes lasted longer, or clustered in groups where she can have one episode per week for three weeks, then nothing for three months. CVS is thought to be a part of the migraine spectrum, and sometimes patients are able to identify things that trigger episodes such as certain foods, illnesses, cyclical hormone changes, stress, or fatigue.

Cyclic vomiting syndrome is difficult to diagnose, because there is no specific test for the disorder. Therefore, it must be diagnosed by excluding all other possible reasons for the vomiting and other symptoms. My daughter was referred to a gastroenterologist and an endocrinologist. In addition to her episodes of vomiting, she is very small for her age. After a workup by both doctors, they couldn’t find any reason for her vomiting or her small size. Her gastroenterologist was reluctant to offer any diagnosis at all, even when I asked about CVS.

Because there is no physiological defect that with CVS can be measured by the medical tests we have currently, many times patients are told that their problems must be “in their head,” or just caused by anxiety, depression, or other mental health problems. Similar attitudes are faced by patients with many other functional disorders, which are diseases where no specific defects can be observed by medical tests. Functional disorders include fibromyalgia, irritable bowel syndrome, migraines, chronic fatigue syndrome, complex regional pain syndrome, and restless legs syndrome. It is short-sighted and insulting to patients to conclude that their problems are not real just because current diagnostic tests can’t detect a defect, and in many cases disbelief or dismissal by medical professionals leads to long diagnostic delays, during which time the patient suffers needlessly without treatment.

My daughter was faced with a version of this attitude, when for a time her gastroenterologist seemed to question repeatedly whether she might have anorexia or bulimia. The concern is legitimate, and it is important to rule out the possibility; however, the issue seemed to come up over and over again for us despite our answers. My daughter was asked if she ever didn’t eat because she was worried about getting fat, and she looked very surprised, because she’s worried about the exact opposite—she would love to be bigger. Clearly she doesn’t have bulimia, when she is waking up in the middle of the night and vomiting in her bed, and writhing in pain on the bathroom floor. Sometimes it gets very frustrating when doctors don’t seem to listen to and hear the answers that they are being given, because they have other ideas that conflict with what you are saying.

We were lucky, because my daughter’s pediatrician mentioned CVS as a possibility very early on. Otherwise I don’t think we would have any idea what her diagnosis might be, because her gastroenterologist was content to just rule things out based on test results, and not offer any opinion on what the problem actually is. It has been beneficial for us to have what we think is a likely possibility for a diagnosis, because it has allowed us to figure out strategies for helping her, including trying to avoid her triggers. The medication that was prescribed by her pediatrician is very useful for helping to manage her episodes when they do happen, although it isn’t as much of a complete solution as I would like, and I am still searching for additional treatments that may help. However, her episodes are less debilitating than they used to be thanks to the medication, and overall she is thriving despite her illness: in between episodes she is a happy, healthy twelve year old who loves figure skating, soccer, Glee, and texting her friends.

 

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