Our lives became flooded with more medical teams than I thought possible over the next few years as genetic testing continued. They finally found out that Jackson has a translocation between chromosome 5 and 15, which means those chromosomes have swapped pieces of information and are a bit mixed up. But his team didn’t feel this accounted for all his problems and 6 years down the line we are still on the hunt for answers. We are waiting to get input from specialists down in London and hopefully some further testing done that isn’t available as readily here in Scotland. Jackson attends a severe and complex needs school and receives care and support from Robin House Children’s Hospice. He has many individual diagnoses but finding an overarching answer that explains everything is what the doctors are searching for, because every year that goes by things seem to be getting more difficult for Jackson. Some of the things he is dealing with are being fed via a tube, he takes 15 medications a day, dystonia is bothersome particularly in the mornings, he struggles with secretions, the sensation to his bladder isn’t fully functional anymore so he is intermittently catheterised every 3 hours and has a daily bladder washout, his bowel also doesn’t work anymore and he has daily rectal irrigation while waiting for surgery for a colostomy. He uses a wheelchair and a full body Lycra suit and splints. He has significant learning challenges and is non-verbal. But, despite everything he goes through he is so full of love and laughter; everyone who helps look after Jackson loves his little personality so much.
Bex and Jackson – Undiagnosed Children’s Day
Bex is mum to 6-year-old Jackson, the youngest of three boys. Jackson has a genetic/neurological condition so rare they have yet to find a name for it. This means Jackson has complex medical, physical, and learning disabilities.
Jacksons pregnancy was difficult and soon after birth the doctors suspected some problems and he was taken to the NICU, we got home but ended up back in ICU a few weeks later with breathing and feeding difficulties.
Jackson’s development
By 6 months old it was clear Jackson wasn’t presenting like a typical child, and we were becoming very worried about a range of symptoms. At 9 months old he was seen by neurology who started testing to try and find out what was going on, CT scans, MRI scans, genetic blood tests. But, everything came back clear.
It was very confusing to feel upset about good results, but we knew something was wrong with Jackson and were desperate for an answer.
Finding SWAN UK
We found SWAN UK when Jackon was about 18 months old, through his genetic consultant after his latest panel of testing came back without a conclusive diagnosis. We have attended information webinars, joined the Facebook group for support and advice and have been on some family days out with other SWAN families over the years.
It means so much to us to have a place we feel included, where there are other families going through similar journeys. It puts a huge strain on the whole family having a child with an undiagnosed condition, it’s so difficult when people ask, ‘what’s wrong?’… I never really know how to answer.
It is such a lonely time, there is no idea what the future holds, no specific support groups etc as these are mostly founded through certain diagnosis and when you don’t have that you are left to manage it all alone. Some days I accept where we are on our journey, that we may never get an answer, other days it consumes me, and I just want an answer for Jackson so we can plan his future and care. Whatever happens knowing SWAN UK is there for us means a lot.
