After proposing that Filum disease may affect the psychological-emotional health of patients, we return to the symptoms that typically characterize their physical health in order to provide some considerations on Quality of Life. From the medical literature as well as from our direct experience with Sample 1, we know that these patients mainly suffer from pain symptoms and neurological alterations. In Sample 1, the most common symptoms are: headache (79%), neck pain (72.1%), paraesthesia (67%), lower back pain (65%), upper back pain (60%), thermal and tactile sensitivity alterations (58%), sphincter alterations (52%), and pain in lower limbs (48%) (Fig. 5). Each pain-related symptom can vary greatly in intensity (mild, moderate, intense), duration (hours, days, episodic), and frequency (daily, weekly, monthly). In some cases, the pain-related symptoms are of constant intensity and long duration. 20% of the patients in Sample 1 have received therapy for chronic pain. Based on the observations of the presence of pain-related symptoms and psychological alterations in Filum disease patients, we would like to comment on various aspects that the literature considers fundamental in the comprehension of syndromes with these characteristics, so that they will be taken into account when assessing each patient’s clinical picture.
Several studies have confirmed the influence of different aspects of information processing in chronic pain patients (7).
Some studies note a relationship between stress and cognitive dysfunctions, and the perception of these two (8, 9).
The possibility of a vicious pain-anxiety-pain-anxiety cycle exists, where anxiety can exacerbate pain and maintain its intensity constant (10).
There is evidence of a greater number of depressive symptoms in patients with chronic pain, suggesting a depression-pain relationship (11).
It is therefore possible that in patients with chronic and intense pain, including some of the aforementioned psychological dysfunctions, certain conditions may be triggered as a result of symptoms distorting perception and experience. After establishing the descriptive characteristics of the psycho-physical health of Filum Disease, we establish an idea regarding the environmental context in which they live, based on the demographic data of Sample 1.
The psychosocial and environmental conditions of the 372 cases from Sample 1 are described below:
11% of patients from Sample 1 found themselves dependent on relatives or caregivers. Like many “orphan diseases”, ACSI and/or ISM can generate significant financial costs for an average family, depending on the exemptions and/or healthcare and social measures implemented, or not, in their home countries.
We detected that patients in school age, including infants and adolescents, comprised 10% of Sample 1, and that this subgroup of patients may have academic difficulties. This is contributed to the fact that if Filum Disease evolves from a very early age, and often diagnosed at a later age, it is associated with 1% of cases of Sample 1 with diagnoses of mild to moderate developmental delay at a psychomotor or cognitive level, with a delay in the acquisition of autonomies, speech, and others. Some of these patients are in the care of paediatric neuropsychiatric, speech therapy and/or psychological units. One of the most frequently reported symptom affecting Quality of Life in adolescent patients is chronic, generalized, and easily reached fatigue. This symptom is clearly not congruent with neither the requirements of the education system (e.g., school routine, class attendance, concentration, memory), nor with the social commitments at that age. If the young patient suffers physical and cognitive disorders, other mechanisms regarding the integration and marginalization of the young person can occur, leading to further psychosocial issues. Cases of severe scoliosis deserve a special mention, in which aesthetics is an additional factor to the possible social troubles. Some patients have lost one or more school years from the time of the initial diagnosis to treatment. Furthermore, Filum Disease is not recognized as a reason for the students’ recurrent absence, nor does it entail additional teaching support to the student, since it is not yet included in the national social security systems—not even when it manifests as syringomyelic cavities or descended cerebellar tonsils. This can contribute to an increase in adolescent school dropout.
The adult patients in Sample 1 belong to different professional and trade categories. From the life experiences that these patients have in common, we observe how many of them are limited in their work activities. Those with sedentary job occupations and long hours report that symptoms related to back pain or headaches hinder their ability to carry out tasks at work. Established professionals no longer found their creativity or interest in their field and sometimes could not continue to take on the responsibilities their profession entailed. Those with careers that required physical effort were often forced to enter a spiral of assessments by occupational physicians and sick leaves, which in cases of precarious contracts, led to unemployment.
In general, there are patients that are off work for months, and others who resign or lose their positions due to their level of impairment. Some of the sample’s patients have applied for and obtained disability benefits, at different levels, but others are still struggling to financially compensate their inability to work.
In general, ACSI and ISM patients with a grade of disability or with altered capabilities must contact reference services, usually at the national or international level, for assessment of their case, treatment or prescription. This implies another burden on the patient with regards to family, work, school, and personal finances. In many cases of Filum disease, there is a need for physiotherapy and rehabilitation. Our collaborating neuro-rehabilitators of the Filum System® (FS®, presented on https://filumsystem.com/enfermedad-del-filum, https://filumsystem.com/enfermedades-implicadas/ and https://institutchiaribcn.com) report that in their experience, until the surgical protocol is not applied to Filum Disease patients and the cause behind the disease is eliminated, satisfactory results are not achieved in physiotherapy. However, satisfactory results are observed following the Sectioning of the Filum Terminale according to the FS® (12).
Normally, the symptoms are progressive, as presented in the medical histories of the patients in this study. Their symptoms increased in intensity and frequency over time, sometimes progressing over a short period of time, and sometimes longer (1–5 years). Many patients reported how the gradual worsening of symptoms affected their self-assessment and self-perception of physical and psychological health, influencing their expectations in various areas of life.