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The CACNA1A Perspectives Project - Understanding the Disease Burden and Treatment Priorities for CACNA1A-related Disorders

For individuals with CACNA1A-related disorders and their families, improving quality of life is an important factor for family well-being. This survey is our attempt to better understand the family/caregiver/patient perspectives, experiences, needs, and priorities with regard to the health and quality of life of the CACNA1A community. We hope you will use this survey to articulate what’s important to you and your family, as your responses will help us prioritize the Foundation’s research agenda.

We ask that only one survey be completed per individual with a CACNA1A diagnosis. 

In order to complete this survey, we ask that you check your genetic test report listing the exact CACNA1A variant and include that information in question #2. This is important so we can understand the disease burden of specific variants. 
1.What is your relationship to the individual with a CACNA1A diagnosis? (Please choose 1 answer - if you are an individual with a CACNA1A diagnosis and a parent of a child with CACNA1A, you may fill out the survey twice.)(Required.)
2.What is the individual's CACNA1A variant? Please report both the c. and p., if applicable. (Not every variant will have a p.) Example: c.4900G>A, p.D1634N. This information can be found on the genetic report.(Required.)
3.In what year was the individual with a CACNA1A diagnosis born? (Enter 4-digit birth year; for example, 1976)(Required.)
4.What was the sex at birth of the individual with a CACNA1A diagnosis?(Required.)
5.How old was the individual when they were diagnosed?(Required.)
6.What were the first noticeable symptoms that the individual with a CACNA1A diagnosis exhibited? Please select up to 3.(Required.)
7.What symptoms does the individual with a CACNA1A diagnosis have?(Required.)
8.Of the symptoms you selected in the previous question, select the top 3 symptoms that impact your daily life the most. If you are answering as a parent or primary caretaker, please select the symptoms that impact your life as a parent/caregiver the most.(Required.)
9.What are the most important activities of daily life that the individual with a CACNA1A diagnosis is currently NOT able to do or struggles with that you would want to see improved with a potential treatment? Select the TOP 3.(Required.)
10.What are the biggest drawbacks to the current treatment approaches for the individual with a CACNA1A diagnosis? Select the TOP 3.(Required.)
11.What is the most important improvement from a treatment you would like to see in the individual with a CACNA1A diagnosis? Select the TOP 3.(Required.)
12.If the individual with a CACNA1A diagnosis has seizures, when did the last one occur?
13.If the individual with a CACNA1A diagnosis has hemiplegic migraines, when did the last one occur?
14.OPTIONAL: Did we miss anything? Please let us know  - WHAT MATTERS MOST TO YOU?
15.OPTIONAL: Please provide your first and last name if you would like to share it with us.
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