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Newly Diagnosed with an LSD? Start Here
A diagnosis of a lysosomal storage disorder can feel overwhelming. You are not alone. This step-by-step guide explains what to do next and how LSDSS can help your family.
What to do next, step by step
Every family’s journey is different, but these are the steps most families in India take after a diagnosis.
01
Confirm the diagnosis
Most LSDs are confirmed with an enzyme blood test and a genetic test. Ask your doctor for copies of all reports, and which type of the disease it is. Keep the reports together: you will need them at every step.
02
Learn about the condition
Understanding the condition helps you ask the right questions. Our pages explain the symptoms, treatment and support for each LSD.
03
Visit a Centre of Excellence (COE)
Government-designated Centres of Excellence diagnose and treat rare diseases, and are the route to government support. Visit your nearest COE with all the patient’s medical reports.
04
Register on the government rare disease portal
The COE can evaluate the patient and register them on the government’s rare disease portal. This is needed for financial assistance under the National Policy for Rare Diseases (NPRD) and for crowdfunding and CSR donations.
05
Plan for treatment costs
Treatment for many LSDs is lifelong and expensive. Eligible patients can receive up to ₹50 lakh under the NPRD, and there are other sources of help.
06
Register with LSDSS
Registration is free. You will receive an email with more information, your next steps and an invitation to join our WhatsApp group, and you can ask us for help at any stage.
07
Talk to your family about testing
LSDs are inherited, so brothers, sisters and other relatives may be carriers or may be affected without knowing it. Genetic counselling explains the risks and the testing options. For some LSDs, such as MLD, testing younger brothers and sisters early can make a big difference to treatment.
08
Connect with other families
Talking to families who have been through the same thing can help. LSDSS brings patients and caregivers together through events and support networks, and families who register are invited to join the LSDSS India WhatsApp group. Looking after your own wellbeing matters too.
Be prepared
Questions to ask your doctor
It can be hard to take everything in during an appointment. Write your questions down, take someone with you, and ask for copies of all reports.
- Which type of the disease is it, and how is it likely to progress?
- What treatment is available, and is it approved in India?
- Which Centre of Excellence should we go to?
- Should other family members be tested?
- Which symptoms should we watch for, and when should we seek urgent help?
- How often will we need check-ups and tests?
Not sure where to start? Talk to us
Message us on WhatsApp at +91 89288 08431, call +91 98100 22645 or email contactus@lsdssindia.org.
LSDSS is a patient support group run by parents and caregivers. We can guide you, and in some cases help with the cost of supportive care such as surgery, but we cannot fund disease-specific treatment such as ERT or SRT, or give medical advice.