Rare Disease Initial Screening Questionnaire

To be used by trained SFRD Volunteers

Version: 1.1; Dated: 07-Sep-2025

Instructions for the Volunteer

This form is a guide to help you identify children who may need further medical evaluation for a rare disease. Please ask the questions gently and empathetically. You are not diagnosing a disease; you are simply gathering information to see if a referral to a doctor is needed. Fill this form out with the child's parent or primary caregiver.

Section 1: Basic Information

Child's Full Name

Child's Date of Birth

Parent/Guardian's Name

Contact Phone Number

Full Address

Section 2: Health & Development Questions

A. Growth & Development Milestones

1. Compared to other children of the same age, is the child's growth (height or weight) much slower or faster?

2. Did the child have significant delays in learning to hold their head up, sit, crawl, or walk?

3. Does the child have difficulty with learning, understanding things, or speaking compared to other children their age?

B. Physical Signs & Features

4. Does the child have any unusual facial features? (e.g., widely spaced eyes, very small jaw, unusually shaped ears)

5. Are there any differences in the child's hands, feet, fingers or toes? (e.g., extra fingers, webbed fingers, very short fingers)

6. Has the child had frequent, unexplained broken bones?

C. Medical History & Symptoms

7. Has the child ever had seizures, fits, or fainting spells?

8. Does the child have very weak or very stiff muscles? Any trouble with balance or coordination?

9. Has a doctor ever mentioned a problem with the child's heart, like a hole in the heart or a murmur?

10. Does the child have any ongoing problems with breathing, vision, or hearing?

11. Does the child have persistent skin rashes, unusual birthmarks, or sores that don't heal?

D. General Health Journey (Please check all that apply)

The child has been to a doctor or hospital more than 6 times in the past 6 months for similar, recurring symptoms.

The child's symptoms do not clearly fit within any common diagnosis.

The child has been referred to two or more other specialists.

The child has tried several recommended treatments (including surgeries) that have not worked as predicted.

There are other family members with similar uncommon symptoms.

The child has stopped growing or developing as expected.

The parent feels that the child ‘just does not feel right’.

Section 3: Volunteer's Summary

Based on the conversation, what are the top 3 most concerning signs or symptoms that make you think this child might have a rare disease?

Next Steps: For Volunteer's Action

**Inform the Family:** Gently explain that you will connect them with a support organization that can help them find the right doctors.
**Contact SFRD:** Share the details you have collected by contacting us through one of the methods below.

Saba Foundation for Rare Diseases (SFRD)

Helpline: +91-99999 99999
Email: contact@sfrdindia.org
Address: 123, Rare Disease Lane, Health City, Hyderabad, Telangana, 500081, India