Archive · 18 Jul 2025
Ahmedabad Boy Diagnosed with Rare CHAPLE Syndrome
Imagine a child whose body has a glitch, causing it to lose important proteins.
This glitch is called CHAPLE Syndrome, a very rare illness.
It makes the child sick with problems like tummy troubles and feeling tired.
There's only one medicine, called Pozelimab, that can help, but it's very expensive.
Doctors give the medicine as shots over a few months.
The disease can't be completely fixed, but with medicine and care, the child can feel better and avoid serious problems.
This case in Ahmedabad is a reminder of how important it is for doctors and everyone to know about these rare conditions.
A seven-year-old boy in Ahmedabad, India, has been diagnosed with the rare CHAPLE Syndrome.
CHAPLE Syndrome is a genetic disorder affecting fewer than 100 people worldwide.
Symptoms include persistent diarrhea, vomiting, fatigue, slow growth, and swelling.
The only treatment involves costly weekly injections of the drug Pozelimab for 24 weeks.
While not fatal, CHAPLE Syndrome can lead to complications if untreated.
- Who
- A seven-year-old boy.
- What
- A seven-year-old boy in Ahmedabad was diagnosed with the rare genetic disorder, CHAPLE Syndrome.
- When
- The diagnosis was recently made.
- Where
- Ahmedabad, Gujarat, India.
- Why
- Due to a genetic mutation causing protein loss, leading to digestive issues and other symptoms.
Patient Needs
Medical Challenges
Access to Medication
Patient Needs
Patient requires immediate and continued access to expensive treatment, Pozelimab.
Medical Challenges
The high cost and limited availability of Pozelimab may present a barrier to timely treatment for patients.
- Disease Name
- CHAPLE Syndrome (CD55 Deficiency...)
- Location
- Ahmedabad, Gujarat, India
- Age of Patient
- 7 years old
- Symptoms
- Diarrhea, vomiting, fatigue, slow growth, swelling
- Treatment
- Pozelimab (weekly injections for 24 weeks)
- Drug Manufacturer
- One Company
- Known Cases Worldwide
- Fewer than 100