Insights into the Diagnostic Odyssey part 2: Medical Procedures
14 graphs showing the percent of the DAND community who have experienced different medical procedures, both for physical and behavioral disorders.
Introduction
Navigating the diagnostic odyssey for DYNC1H1 Associated Neurological Disorder (DAND) patients can be a long and emotionally taxing journey that involves children and their caregivers. Procedures like EEGs, blood draws, and MRIs are often essential steps in this process, providing critical information for diagnosis and treatment. These interventions, while vital, can evoke significant emotional responses, adding to the already challenging experience of uncertain health conditions.
As a part of the Diagnostic Odyssey survey sent to members of the Patient Contact Registry, the DYNC1H1 Association asked for patient experiences on their journey as a medical complex patient in order to better design future studies and help pharmaceutical companies understand the powerful amount of data already available in each person’s medical history.
Below, we’ll describe some of the most common procedures patients experience. For part one of the survey findings, see the previous blog post here.
66% experienced EEGs: Uncovering Hidden Clues in Epilepsy
Electroencephalograms (EEGs) are vital for diagnosing neurological conditions, but they can be bewildering and frightening for children. The unfamiliar environment, sensation of electrodes, and need to stay still often cause anxiety and distress, especially with repeated procedures. Caregivers experience worry and helplessness, as they fear the potential for serious diagnoses and struggle to comfort their distressed children, leading to frustration and emotional exhaustion. With 40% of Diagnostic Odyssey participants reporting epilepsy, while 50% reported that diagnosis in the Mӧller, et al Brain publication, summarized here.
The DYNC1H1 Association will be assisting in developing the follow up to that study, make sure you are registered with our Patient Contact Registry to make your voice heard!
72% experienced Blood Draws: A Routine Yet Stressful Necessity
Frequent blood draws, necessary for monitoring health while on many epilepsy medications, can be traumatic for children due to fear of needles, sight of blood, and pain. This routine often heightens anxiety and resistance over time. Caregivers feel significant anxiety and distress, grappling with the inability to ease their child’s fear and pain, and constantly worrying about the implications of test results, adding to their emotional burden. Of the 36 patients who reported blood draws related to DAND, 26 were under the age of 10.
88% experienced MRIs: The Challenge of In-Depth Imaging
MRI scans are crucial for detailed imaging but intimidating for children due to the need to stay still inside a noisy, confined machine. This often provokes anxiety and fear, especially with repeated scans. In many cases, the child must be put under or sedated for the procedure. For caregivers, the MRI process is a source of stress as they worry about their child's ability to endure the procedure and the potential need for sedation. The anticipation of results and their own concerns about the procedure’s outcomes add to their emotional strain. For DAND families, 88% had experienced 1 or more MRI, most commonly of the brain.
Nerve Conduction Studies (28%), EMGs (38%), and Muscle Biopsies (10%): Uncomfortable Diagnostics
Muscle Biopsies, Nerve conduction studies (NCS) and electromyography (EMG) are used to evaluate the function of nerves and muscles. Muscle biopsies involve the removal of a small piece of muscle tissue. This invasive procedure can be particularly frightening and painful for children, often requiring sedation or anesthesia. Nerve Conduction Study and/or EMG procedures can be uncomfortable and painful, as they involve electrical stimulation and needle insertions in the legs. Children may feel anxious about the shocking sensations and the unfamiliar equipment, while caregivers struggle with seeing their child in discomfort and managing their own anxieties about the outcomes. These are most commonly done when neuropathy is suspected due to numbness, tingling, or reduced muscle strength.
Over 80% of patients: Physical Therapy, Occupational Therapy, and Speech Therapy Evaluations
Each of these specialties has its own role in the life of a DAND patient. It’s one of the more common challenges of a DAND patient or caregiver to keep up with the ongoing cycle of appointments.
Occupational Therapy (OT) focuses on improving daily life skills and independence in ADLs through fine motor skill enhancement and cognitive training. This is key given the high amount of the population with either fine motor challenges, intellectual disabilities, or other behavioral disorders.
Physical Therapy (PT) aims to enhance physical movement, strength, and mobility, addressing gross motor skills and physical rehabilitation needs. Measuring progress in terms of physical ability is an easy way to determine if a patient’s condition is progressive or stable.
Speech Therapy (ST) targets communication and swallowing abilities, improving speech, language, and cognitive-communication skills. Having DAND can lead to challenges with both communication and feeding, with some patients requiring feeding tubes or AAC devices. For children with autism, Speech Therapy may explicitly teach the ‘unspoken rules’ of conversation in social group settings.
Autism (32%), Intellectual Disability (82%), and Other Behavior Disorder Evaluations (80%):
Evaluations in this category are common parts of neuropsychological evaluations, which can occur either in schools or in medical offices. 60% of patients have reported having intellectual disability in the Odyssey survey, while 75% were reported to have Intellectual Disability in the Mӧller, et al Brain publication, summarized here. While early signs and initial testing can occur from birth, formal testing for intellectual disability, moderate to lower support autism, and ADHD begin around ages 3-5 when children are better able to participate in structured assessments. Psychologists and other professionals may use standardized developmental tests such as the Bayley Scales of Infant and Toddler Development, the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), the Vineland Adaptive Behavior Scales, or similar tests to evaluate cognitive and adaptive functioning for preschool aged children. If your child has had testing through a public school or a psychological evaluation, ask for the results of intellectual functioning tests and for a formal IQ score. Many governments provide services to help support intellectually disabled individuals.
