Please fill all details in the form at once.
This section helps us understand who has referred the patient to SFRD. All personal contact information will be kept strictly confidential and will only be used by the SFRD support team to contact them.
Our support team will use this number to contact him.
This section helps us understand who the patient is. All personal contact information will be kept strictly confidential and will only be used by the SFRD support team to contact you.
As it appears on official documents.
Please use the DD-MM-YYYY format.
We will use this to send you updates and connect you with resources.
Our support team will use this number to contact you.
Our support team will use these handles to share know how on RDs, updates etc.
Your permanent identification no in SFRD. Quote this for all support/help.
This section helps us reach out to parents / caregivers for all future activities.
Please help us understand the patient's health challenges better. Describe the symptoms or features you have observed, even if they seem unrelated.
Describe any issues with height, weight, head size, or delays in milestones like walking or talking.
Mention any seizures, muscle weakness, difficulty with balance/coordination, or learning difficulties. Include cognitive /neuro functions.
Describe any unusual bone shape, frequent fractures, joint stiffness, or scoliosis (curved spine).
Mention any known heart defects, irregular heartbeat, or bleeding/clotting problems.
Describe any issues like cataracts, poor vision, or unusual eye movements.
Start typing a symptom. We will suggest matches. You can add multiple symptoms.
Please describe physical mobility, daily activity support, school /work participation / support of parents in daily routines.
This is the most important section. Please provide as much detail as you can about the patient's diagnosis. If you are unsure, please write 'Don't Know' or upload a doctor's report. Can seek support of patient-onboarding team to fulfil this section.
Has a doctor confirmed the diagnosis?
Start typing a disease name. We will suggest matches from our database.
This is a specific code for a rare disease. You can find it on a genetic report or ask your doctor.
When did you first notice symptoms, even if you didn't know the cause?
The date a doctor first gave you this specific diagnosis.
Start typing the name of the disease if you know it.
Are any other relatives (parents, siblings, aunts, uncles) affected by the same or similar condition?
You can upload doctor's prescriptions / notes, genetic test reports, biomarkers / lab tests reports, discharge summaries, imaging reports. (Max 10MB, PDF, JPG, PNG, DICOM)
Please select the option which you feel is probable.
Please share details, if any.
Please list all current medications and supplements.
Please share details if any.
You shall be provided with necessary support as sought from the below information.
Your privacy is our highest priority. This section explains how your information will be used and asks for your permission. Please read each point carefully. You can change these preferences at any time by contacting us.