Hi, my name is Sofia, I am 17 years old and I have a rare medical condition called NKH which has caused me to have a severe disability.
NKH means that my body has too much glycine in it, and the glycine damages my brain. I take lots of medicines to stop my condition getting worse, but there’s no cure for it. Lots of people with NKH die at a very young age.
I need 24/7 care and help with all aspects of my daily life because of my disabilities. I can’t control my arms or my legs so I have to use a wheelchair to get around and I need someone to do everything for me, including moving me around with a hoist, washing and dressing me, feeding me and taking me to the toilet. The only part of my body I have good control of is my head and I use facial expressions and head movements to communicate my opinion about things. I’m not able to speak, but I am able to understand.
I live with my mum and my brothers, and I also have a carer who helps me for a few hours every day.
My mum doesn’t have lots of money, so I’m raising money to help to pay for things that I need to improve my quality of life and to make caring for me easier.
Any amount that you can give would mean so much to me and my family.
Thank you.
Sofia, Maria and Kim x
Some things I need:
- A Smartbox computer. This is an amazing communication device that I can access with a head switch and would allow me to have my own voice and say anything I want to. I tried it for a free trial period and it would be truly life changing to have one of my own.
- A moulded toilet chair. My current standard toilet chair doesn’t fit my body shape so I need someone to hold me on top of the toilet, which isn’t very dignified. A moulded chair would be much more comfortable and allow me some privacy and independence to sit while I’m on the toilet.
- Money to pay for ABR therapy. This is an alternative therapy that isn’t available on the NHS but has helped so many disabled people to develop their physical skills, improve their posture and reduce their pain and discomfort. I have started this therapy but I need to pay more each year to continue with it.
- A deposit for a new Motability car with a wheelchair winch. As I am getting older and heavier, it is becoming harder for my mum to push me up the ramp and into the back of the car, so having a car with a winch would really help my mum to reduce the physical effort of caring for me.
Organizer and beneficiary
Maria Gouveia Lemos
Beneficiary