Programme design
The referral pathway
A rare disease is not found in one place. It is found by four sets of hands passing a child along without dropping them. This page is the map of that chain, and of the places children fall out of it.
1 · Four tiers, four jobs
Tier 1 · ASHA, Anganwadi worker, RBSK mobile health team, school teacher
Village, Anganwadi centre, school
Asks ten red-flag questions during the routine RBSK visit. Marks what was seen, hands the family a slip.
Does not name a disease, does not order a test, does not reassure a worried family that nothing is wrong.
RD-T1 screening tool →Tier 2 · Medical officer or paediatrician
DEIC, CHC, district hospital
Examines the child, plots growth, corroborates the flags, orders first-line investigations, records a decision.
Does not perform genetic testing or give a genetic diagnosis.
RD-T2 validation worksheet →Tier 3 · Centre of Excellence genetics team
Designated CoE under the National Policy for Rare Diseases
Confirms or excludes a diagnosis, arranges genetic counselling and testing, plans treatment and funding.
Cannot see children who were never referred. This is the tier the first two exist to reach.
Tier 4 · Family, block programme staff, CoE clinic
Back in the village, with a plan
Long-term care, therapy adherence, sibling and carrier counselling, follow-up scheduling.
Does not end. Rare disease care is lifelong.
Referral tracker →
2 · Six tracked stages
The tracker measures the pathway in stages, not intentions. A child sits at exactly one stage at any time, and the programme's job is to move them up by one.
- 0
Referred
The Tier 1 slip has been handed to the family.
- 1
DEIC seen
The child has been examined at the DEIC or district hospital.
- 2
CoE OPD booked
An appointment at the Centre of Excellence genetics OPD exists.
- 3
CoE seen
The family has attended the CoE OPD.
- 4
Testing sent
Confirmatory or genetic testing has been dispatched.
- 5
Outcome recorded
A result or a closing outcome has been written down.
3 · Where children are lost
Between Tier 1 and Tier 2
The family cannot afford the day's lost wages and the bus fare to the district hospital.
Phone ahead so the visit takes one trip, not three. Record the referral in the tracker the same day.
Between Tier 2 and Tier 3
The CoE is in another city, and no one told the family the appointment exists.
Book the OPD slot before the family leaves Tier 2, and write the date on the slip in their hand.
After a diagnosis
Therapy is lifelong, and the first missed review is rarely followed up.
Keep the child on the register at stage 5 and review the register monthly at the block meeting.