Chiari malformation (CM) is a condition in which cerebellar tonsillar ectopia may manifest with various clinical presentations. This study reports from the only national, online patient registry available, the symptoms, comorbid neurocognitive and psychological conditions, and diagnostic experiences of patients living with CM type I (CM I). The current research is one component of a large investigation designed to collect information from individuals with CM through the online Conquer Chiari Patient Registry questionnaire. Analyses included descriptive statistics to study body system impact and patient diagnostic experiences. Participants were 768 individuals with CM I and were predominantly female (86.8 %) and Caucasian (93.8 %) with an average age of 35 years. Pain was the most frequently reported symptom (76.69 %) experienced prior to diagnosis with headaches implicated most often (73.44 %). Neurocognitive comorbidities included memory difficulties (43.88 %) and aphasia (43.75 %) and psychological disorders such as depression (31.77 %) and anxiety disorders (19.92 %) were reported. Average time to diagnosis from first physician visit to diagnosis was 3.43 years, and only 8.46 % of patients had previous awareness of CM. CM I diagnosis was found incidentally for 24.87 % of participants. Common misdiagnoses were classified as psychological (19.26 %) and neurological (19.26 %). Fear was the most frequent emotion elicited at the time of correct diagnosis (42.19 %). CM I can be a challenging condition for patients and physicians, during both the search for diagnosis and management of symptoms. Patient and physician education about CM I may permit early intervention and the prevention of further deterioration and patient suffering.

BackgroundTwin-to-twin transfusion syndrome (TTTS) affects 10–20 % of monochorionic diamniotic (MCDA) births and accounts for 50 % of fetal loss in MCDA pregnancies. This exploratory qualitative study identified shared experiences, including potential emotional and psychosocial impacts, of this serious disease.MethodsForty-five publicly accessible, online stories posted by families who experienced TTTS were analyzed using grounded theory.ResultsShared TTTS experiences included a common trajectory: early pregnancy experiences, diagnostic experiences, making decisions, interventions and variable outcomes. Families vacillated between emotional highs such as joy, excitement and relief, and lows including depression, anxiety, anger and grief.ConclusionsTTTS disease experience can be considered an “emotional roller coaster” exacerbated by TTTS’s unpredictable and quickly changing nature with the potential for emotional and psychosocial effects. Increased TTTS awareness and research about its corresponding impacts can ensure appropriate patient and family support at all phases of the TTTS experience.

This study further documents that brain tumour patients report high levels of distress across the disease course. However, participants in this study reported improvements in distress level and total number of sources of distress while receiving massage therapy.

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