Going to a Illness Specific Multispecialty Clinic - like Cacna1a or others?
- Make a binder with different sections (specialist consultations for each problem, imaging, eeg, sleep studies, school and neuro-psychtesting)
- Look for what other specialists are at that institution who might be helpful.
- Plan to do a few fun things if you can.
✅ General Neurology / Genetics
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Full genetic testing reports (include any re‑interpretation letters).
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Family history notes (migraines, ataxia, seizures, behavioral issues).
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Prior neurology consults or clinic notes.
✅ Epilepsy Team
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EEG reports (routine, prolonged, video EEG). Bring CDs/USB if possible.
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Seizure history:
• Age of onset, type (describe what happens), frequency, duration, triggers.
• Current rescue plan (e.g., diazepam, midazolam).
• Medication history: all antiseizure drugs tried, doses, side effects, why stopped. -
Seizure diaries (even handwritten or phone app screenshots).
✅ Movement Disorders Team
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Notes from PT/OT or previous movement evaluations.
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Videos of episodes: dystonia, tremor, ataxia, gait problems.
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Details on triggers (illness, fatigue, certain activities).
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Adaptive equipment or orthotics used.
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Response to meds like acetazolamide or 4‑aminopyridine (if tried).
✅ Behavioral Neurology / Neurodevelopment
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Neuropsychological evaluations (attention, memory, executive function).
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School reports/IEP or therapist notes (speech, occupational therapy, behavioral plans).
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Notes on mood, sleep, anxiety, irritability, sensory issues.
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History of behavioral interventions tried and results.
✅ Ophthalmology, GYN issues, Physiatry (teens should have bone labs)
✅ Imaging and Other Studies
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Brain MRI (with radiology report) on CD/USB.
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Any other scans (CT, PET, etc.).
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Relevant labs (metabolic panels, vitamin levels, etc.).
Taking acetazolamide - monitoring labs
🧠2. The Summary Sheet
Bring a one‑page overview for quick reference:
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Child’s name, age, primary diagnosis (CACNA1A mutation details).
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Key symptoms (ataxia, seizures, behavior concerns).
Key events
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Current medications and doses.
Current supplements
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Most important questions/concerns for this visit.
Multiple copies!
🎥 3. Capture Episodes - Video the sweet and the sour.
- Specialists appreciate short videos to see subtle or uncommon phenomena:
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Record seizures, migraine auras, unusual movements, tremors, or gait difficulties. Note time of day and what was happening before the episode (trigger context).
Our kids do the unexpected. Bring videos of the great things they do. Neurologists often have this idea that a tired, scared child will offer the information they need for exam.
✨ 4. Questions to Ask Each Specialty
Movement Disorders
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Are there medications or therapies that could improve ataxia/dystonia?
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Should we consider 4‑aminopyridine, acetazolamide, or other channel therapies?
AQNeursa
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Are there adaptive devices that could help (walkers, orthotics)?
Epilepsy
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Do you recommend any medication adjustments or further monitoring?
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Is epilepsy surgery, VNS, or ketogenic diet ever considered in CACNA1A cases?
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What rescue plan do you recommend for prolonged events?
Behavioral Neurology
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What strategies help with executive dysfunction, attention, or mood?
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Are there specific behavioral therapies or medications that work best in CACNA1A?
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Are there known links between CACNA1A and autism spectrum or ADHD‑like traits?
What is the Cerebellar Cognitive Affective syndrome.
What school recommendations / accommodations do you recommend.
Multidisciplinary / Big‑Picture
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Are there clinical trials or registries we should join?
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What screening or surveillance should we do annually?
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How do we best coordinate care between home neurologist and the " team" ?
🧰 5. Practical Items to Bring
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All current medications (or a photo of labels).
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Fun or distracting items (headphones, favorite toy, snacks).
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Mobility aids (stroller, wheelchair) if needed.
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Charging cables / batteries for devices.
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Insurance cards and referral/preauth paperwork.
💡 6. Pro Tips
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Take notes use voice to text apps or bring someone to help document what each specialist says.
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Ask for a written care plan or summary at the end of the visit.
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If possible, send records to the clinic ahead of time (they often have a secure upload link) so specialists can review before you arrive.
Scan all your originals.
Have reasonable expectations. You are human beings and you likely have a lot of information for them to take in. Plan a zoom followup.
