What to Ask your Doctor
General Comments About Asking Questions
- Ask anything and everything.
- Don't apologize for asking questions and putting your child's best interest first. Be respectful but never apologize for challenging someone when it comes to your child's health and safety. You are your child’s advocate!
- Ask your doctor to be honest with you about how comfortable s/he is in making decisions about your child’s care.
- Let your doctor know you are part of a support group and have learned a great deal about other children with SCN8A.
- Make sure they are willing to be proactive in helping you, and do whatever it takes to make you and your family comfortable.
- Have you ever treated a patient with SCN8A epilepsy or symptoms related to SCN8A?
- Are there different ways to treat SCN1A and SCN8A epilepsy?
- How will my child develop?
- Are there other children with SCN8A mutations that do not experience seizures?
- What are the treatment options for hypotonia, autism, or ataxia related to variation in SCN8A?
- Is there a prognosis for my child?
- What types of seizures does my child have?
- What are some seizure triggers?
- How many seizures do I expect to see and when is it too many?
- What do I do if my child has too many or a very strong seizure?
- Different type of seizures: how do they look and what they are called?
- Ask for a letter to show emergency department staff indicating what to do in case your child goes to the ER.
- Ask for an emergency plan for home when seizures are out of control, including loading doses of rescue medicines.
- Which anticonvulsants have been shown to be useful for chronic seizure management in SCN8A?
- Which rescue medication would you recommend during a prolonged seizure?
- Which anticonvulsants are contraindicated in the treatment of SCN8A epilepsy?
- Can you tell me which SCN8A variant my child has?
- May I have a copy of the genetic testing report?
- Should my spouse and I also be tested? May I have those reports as well?
- What type of tests do I need to perform? And how often should these be monitored?
- Vaccinations: I want to be able to go to the pediatrician and be 100% confident they understand that a vaccine could trigger worse seizures and possibly losses of developmental skills. I want to receive sound advice on how I might alter the vaccine schedule or delay vaccines indefinitely.
Related Conditions and Challenges
- What type of secondary conditions should I monitor for?
- What other challenges do children with SCN8A face and what can be done about it? (e.g., feeding and respiratory problems, communication, sleep, social behaviors).
- What therapies are the most beneficial for cognitive or motor delay? Is this a futile idea? What can we expect?
- What is needed for the day-to-day management of this chronic illness?
Alternative Treatments and Therapies
- Are there other alternative treatments and therapies that have shown positive results in the overall care and management of SCN8A?
- How do we improve our child's quality of life?
- What family support is available to help my family cope with having a child with a chronic illness or a developmental disability?
- Ask for a letter of diagnosis of Cerebral Palsy or autism, as well as seizure disorder. Depending on what country or state you live in, there may be social services that you are eligible to receive.
- How do I monitor my child at night? Should I let my child sleep alone?
- What are signs to look out for, things other than seizures.
- Does my child need an EKG?
- What do I do if my child turns blue during a seizure?