Hi my name is Kelly and I have a 2 & half year old daughter called Holly. She has a rare metobolic disease (genetic) called gultaric aciduria (GA1), She is missing a gene to correctly process protein which causes a build up of acid which can result in brain damage. if diagnoised before a crisis has occured then brain damage can be prevented. Thankfully Holly was diagnosed at 15 months old before any cirsis. It was first picked up that she had a larger than normal head but they thought this was because apparently, I have a big head!! However a brain scan provided a clearer picture and she was diagnosed with GA1. As a result of this condition she has weak muscles and didn't really move at all until she was 18 months old. We have to be really careful when she is ill as this can cause a crisis to occur. However, since diagnosis she has been on a special protien restricted diet along with medication and has learnt to sit up unaided, shuffle then crawl, to kneel then pull herself to standing and to climb onto her chair and off again. She cannot walk but has physio and we are hopefull she will be able to one day, however i'm trying not to get hung up on this as she's made so much progress. She didnt say much until she was about 2 and then said everything at once. Its rare condition (about 1 in 60,000) and affects everyone differently and it has at times, made me feel very alone and isolated which i'm sure alot of people can relate to. I always thought things like this happen to other people and its really turned our lives upside down. However, we have a beautiful daughter who i love dearly and i'm so thankfull she was diagnosed early.

hi im maz mum to dan 16 tino 14 rocky 6 and finn 1. tino is my disabled child he is severly autistic and we have lots of problems to do with behaviour and violence he is on quite high levels of rispiridone to try to keep him calmer which isnt really having any effect. at the moment we are strugglin to get him into some respite also tino has totally trashed his bedroom, radiator, bed , blind so now has no heating in the middle of winter his room also needs replastering and a new bed and blind for which we have no money.

Hi I'm Claire mum to Leah-louise 7 and Ava-Rose 10 months Ava was born with possible dandy walker syndrome but after a no. Off EEG's and MRI scans things are looking alot more complicated and she awaiting further tests. As a result of ava's condition she is deaf and has very poor sight. Winter time has Been really hard with almost 10 hospital stays. Ava also suffers with fit like seizures would be great to chat to anyone in a similar situation x

My 20 month old son does not use his right side, i have taken him to seen a specialist who thinks he has mild celebral palsy as there is increased tone and resistance in moving his right side; it is very stiff. he now has to see a physio, occupational therapist, he needs specialist shoes as his feet go inwards when he walks. he eventually will also need an mri scan and to see a speech and language therapist, just wondering if anyone has any advice

hi im Laura im 24 and have 4 yr old Ronan. its just us two in the family and we have been like this since Ronan was 4 months old. Ronan has Global Developmental Delay (GDD) the cause is still unknown and we are currently awaiting genetic testing and autism testing to determine what has caused him to be like this. he is currently 2 years behind on his development. i would like to ge to know other parents who have dealt with this as GDD is not something i have heard of before let alone gone through it. so any information would be kindly apreicated xx