My daughter, Mollie, was born in 1978 on her sister’s sixth birthday after a happy and 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 12 months old, 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 two 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 and lasting for one to two days. In spite of multiple medical interventions, 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 were relentless. She would vomit about six to eight times an hour continuously, other than 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, 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 her episodes. Mollie continues to take amitriptyline today. During late adolescence, the vomiting episodes transformed into migraine headache. She suffered from migraines that started abating in her late 20s. Now as an adult, she is essentially episode-free with the exception of very short episodes of headache 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.
A Revelation – February 2021
In 2021 – At age 42, Mollie’s genome sequencing report brought astounding news further explaining her CVS and global developmental delay, Gene PPM1D on chromosome 17 is shortened. The gene is related to quality control in cell reproduction along the stress response pathway. Mollie solidly fits the characteristic description of Jansen de Vries syndrome (JdVS)- anatomically, developmentally and behaviorally. Described in 2017, Jansen de Vries JdVS is appearing globally. Among the characteristics is “episodic vomiting”. Some individuals with JdVS also have the picture of CVS and vice versa. Mollie is doing her best to wrap her mind around this new discovery, as is her family.
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 and part of the international network 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.
Mollie’s Mom Kathleen Adams, B.S.N., R.N. President Emerita, Co-founder
revised 1/7/2022 by Kathleen Adams – mother