Help for my son
Fundraising campaign by
Nuno Miguel
-
€5.00raised of €6,000.00 goal goal
Campaign Story
Hello, my son Filipe was born with a rare disease called CTNNB1 syndrome
What is CTNNB1 Syndrome?
CTNNB1 syndrome is a rare genetic disease that profoundly impacts neurological development caused by disruption of chromosome 3p22.1 of the CTNNB1 gene. Common symptoms include intellectual disability, impaired motor skills, speech difficulties, hypotonia with progressive hypertonia/spasticity, microcephaly, visual impairments, and behavioral abnormalities such as autism, aggression, and sleep disturbances.
This disease was discovered in 2012 and worldwide there are only +/- 500 cases diagnosed worldwide, with 8 cases diagnosed in Portugal.
My son cannot walk alone and walks with the support of a walker, but he cannot last long. The therapists recommended a chair with these specificities:
- Wheelchairs controlled by the companion
- Sitting cushions and protective materials to prevent pressure ulcers
- Wheelchair occupant stabilization systems
The quotes I got are all around 6 thousand euros, so I asked for this help.
I pay all the treatments like physiotherapy, hippotherapy, hydrotherapy and it's very difficult to bear everything.
All help will be welcome.
Organizer
- Nuno Miguel
- Lisbon, PT
No updates for this campaign just yet
Donors & Comments
- Anonymous
- Donated on Jan 22, 2024