Clara is my daughter. We are looking for donations. Clara is 2 yrs old & has a very rare life limiting syndrome called Smith Lemli Opitiz. There is only about 800 people world wide with this syndrome about 32 in the UK believed although not confirmed. We have been told she has this syndrome because we her parents are carriers with no symptoms so this has completely shocked us ,we were expecting a healthy happy carefree thriving baby. Only to be told seven months later (as It was undiagnosed for this long ) that she was very sick . We were told Clara would never be able to live on her own she would have severe learning difficulties, will never talk & possibly never walk as well as suffering from lots of medical conditions ,problems with all major organs can occur with this syndrome i.e. heart ,lungs ,liver etc it seems our girl has a big fight ahead for the rest of her life & we are doing everything we can as parents to give her the best fighting chance of a pain-free happy life
This has been a huge shock and changed our lives so much with no answers here in the Uk for us.
We are fundraising to go to America next month for an experimental trial/conference to meet the only doctors who actually know anything about this syndrome. Please are you able to help us get there ?
Clara has already shocked doctors by doing more than they said she would do these included things like moving,giggling,interacting, playing with toys, talking and walking (just got her first standing frame and actually called me mama 😀 she may only ever say a few words in her life but that's a good one )
We have been doing a lot of fundraising over the year but still have £2000 left to raise if you can help in anyway this would be amazing thank you so much for taking time to read our story .