Robbie, Carly & Jorja
We are Robbie and Carly from from Bangor, Co Down and this is our daughter Jorja.
Jorja has a 1q43q44 deletion this is a rare chromosome deletion she is the only known baby to have this in Ireland!
With her condition she has:
- Central hypotonia
- Low muscle tone
- Delayed development
- Difficult epilepsy resulting in life threatening status seizures.
Jorja was put into intensive care twice last summer. On the second occasion Jorja was left in seizure totalling 17 hrs. Also at this time we where told by her consultants that Jorjas brain was decaying in essence it was vanishing.
Her consultant told us she was going to succumb to this and that was nothing further they could do! As well as this told us we would have to get used to her regular seizures and control would be impossible.
This year we privately engaged with Boston children's hospital to review Jorja's care and her scans. Boston returned to us to tell us that they disagreed with what we had been told and Jorjas brain is not vanishing and was not going to die from this condition.
Our main concern now is Jorjas cocktail of drugs and the quality of life she has. She is unable to fully participate in her therapies to progress as she is constantly tired. On top of this we know how dangerous her drugs are and bad side effects of them!
The worst thing about it is Jorja still continues to have seizures daily and only two weeks ago was in Hospital with status seizure.
We asked Boston to review this and they are extremely concerned by her medication in particular her chroal hydrate that is given to Jorja every night! This drug is so dangerous America do not use it!
We have tried get access to medicinal cannabis but told this is not possible! I have explained how we are a member of a support group for Jorjas specific chromosome deletion and many of them all use medicinal cannabis as they are from places like America and Australia ! I've showed them how the children thrive , How as a parent I've to watch how they celebrate being seziure free and meeting milestones because of them being able to participate in there therapies fully!
As parents we have to watch our baby suffer and dodge death everyday because of the postcode lottery being born in the UK this is heartbreaking we just want opportunity to try help give her better quality of life.