9p Deletion Syndrome (Alfi's Syndrome)
Your 9p patients' hardest days happen between visits, where no scale is watching.
9p deletion syndrome attacks on every front at once, seizures, a dysmotile gut, a feeding tube, slowed development, yet clinic visits see only a thin slice, months apart. The titration that finally calms the seizures, the three stool-free days before a bilious-vomiting crisis, the granulation creeping around the button: all of it unfolds at home. Forma captures that continuous, multi-system reality in the caregiver's own voice.
Forecast
Based on prior Topics logging
Topics
How it works
15 seconds of speech. 25 data points.
Forma turns each child into a continuous data stream that families can actually sustain. Caregivers speak or type a single sentence in the moment, under a minute, and the platform structures it into typed observations across seizures, medications and CBD titration, GI and feeding symptoms, G-tube care, bowels, development, sleep, and behavior. Distinctive 9p signals are built in: a bowel-obstruction red-flag view and gastric residual volume captured with its color. Everything threads back to existing clinical assessments and a caregiver Global Impression anchor, so neurology, GI, and research teams see the same longitudinal picture.
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Forecast
Based on prior Topics logging
Topics
Structured, coded, longitudinal
- Timing
- Seizure time:6:00 AMSeizure duration:45 secRecovery time:20 minMissed dose time:Previous evening
- Location
- Injury location:Tongue
- Severity
- Injury:Tongue bitePost-ictal symptom:Confusion
- Actions
- Adherence:Missed doseMedication:Keppra
- Environmental
- Barometric pressure:29.82 inHg (falling)Moon phase:Waxing gibbous (87%)
From data to insights
What the data reveals
Daily voice logs compound into actionable insights, for patients managing their condition and for researchers running studies.
For Patients
Is the CBD actually helping Leo's seizures?
Yes, his logged seizures dropped from an average of 2.8 per day in week 1 to 0.6 per day by week 3, after two titration steps, including three seizure-free days in the last week.
Avg seizures/day by week
When is Leo most likely to get a blocked-up belly?
All four of his bilious-vomiting episodes in the last six weeks followed three or more days without a bowel movement, and his belly was flagged as hard or distended a day before the ER trip on Day 8.
Obstruction risk by stool-free days
How are his feeds going overall?
Feed intolerance averaged 6 out of 10 during the obstruction week but settled to about 1 out of 10 in the two weeks after, and he tolerated roughly 90% of his prescribed volume once feeds resumed.
Feed intolerance over time
Can you summarize Leo's last few weeks for his doctor?
Over 21 days Leo's seizures fell from ~3/day at baseline to three seizure-free days by week 3, across two Epidiolex titration steps (Days 4 and 13). A Day 8 obstruction (3 stool-free days, distension, bilious vomiting) led to a brief admission and clean-out; feeds and seizures both improved afterward, and on Day 18 he took purees by mouth for the first time.
For Researchers
Is off-label cannabidiol reducing seizure burden across the 9p cohort?
Across N=34 children with 9p deletion on off-label cannabidiol, median weekly seizure frequency fell 47% (IQR 28–61%) over 8 weeks of titration, with a significant mixed-effects time slope (p=0.002).
Median seizures/week
Trend
Can caregiver logs predict bowel-obstruction events before they escalate?
A composite of three or more stool-free days plus reported abdominal distension predicted bilious-vomiting/obstruction events with sensitivity 0.82 and specificity 0.76 (AUC 0.81) across N=41 events.
Early-warning sensitivity
Trend
How does cannabidiol tolerability track with titration in real-world use?
Caregiver-reported somnolence clustered within 7 days of each titration step (OR 3.4, 95% CI 1.9–6.1), and elevated-LFT flags in 11% of patients surfaced a mean of 9 days before scheduled lab draws.
Somnolence vs titration day
Trend
Is daily logging sustainable, and does the Global Impression anchor hold up?
Daily voice-log adherence was 78% at 8 weeks (N=52), and the caregiver Global Impression of change correlated with measured seizure reduction (Spearman ρ=0.63, p<0.001), supporting its use as an interim anchor absent a validated 9p PRO.
Adherence by week
Trend
The raw signal
12 days of raw patient data
The day-by-day voice log behind the insights above, and the detail that periodic check-ins can't capture.
Leo had multiple seizures and threw up after his morning feed, a hard start to the week.
Up four times overnight, restless, and one episode looked like a seizure in his sleep.
Neurology moved Leo to the next Epidiolex titration step, aiming for 10 mg/kg.
Granulation tissue came back around the button and the site was leaking again.
Three days without a bowel movement, a hard distended belly, and green vomiting, rushed to the ER.
Admitted overnight; feeds were held and a clean-out was started to clear the obstruction.
Home and feeding again, and his seizures were already a little less frequent than baseline.
Second Epidiolex titration step now that his gut has settled.
Slept through most of the night with no seizures, the best night in weeks.
Took three spoons of puree by mouth without gagging, a real feeding-skill win.
First completely seizure-free day in three weeks.
Marisol's overall read: Leo is much better than a month ago, especially his seizures and his mood.
Key insight
Over three weeks, Leo's seizure scores fall from 3 at baseline (Days 1–2) to 0 by Day 20, bracketing two Epidiolex titration steps on Day 4 and Day 13. The arc isn't smooth, a Day 8 emergency (three stool-free days, a hard belly, and bilious vomiting) drives an obstruction admission that a clinic visit would never have caught in time. By Day 18 Leo is taking purees by mouth, the kind of gain that only surfaces when someone logs every day.
See 9p Deletion Syndrome (Alfi's Syndrome) configured for your study
See Forma configured for 9p Deletion Syndrome