Hi, I am Bex and I’m mum to our wonderful SWAN Jackson. Jackson is the youngest of 3 boys and is 5 years old, and despite everything he has going on he is the cheeriest little soul.
It’s complex
Jackson has a genetic / neurological condition so rare they have yet to find a name for it, this means he has complex medical issues alongside physical and learning disabilities. He is a SWAN (syndrome without a name). He has many individual diagnoses, but they have yet to find an overall answer for all his complex needs.
We had a difficult pregnancy with Jackson resulting in frequent scans, monitoring, and being induced early. I knew from my pregnancy that something wasn’t quite right with Jackson, I rarely felt him kick and within our first few weeks at home I still felt uneasy that something was off. He was extremely floppy and struggled to feed. He was unable to breastfeed, so he had expressed milk for 14 months.
At 4 weeks old he became very poorly, and he ended up in PICU. The feeding issues and floppiness were still ongoing along with a lot of respiratory problems and at 6 months Jackson’s head circumference started to rapidly increase, he was becoming floppier and couldn’t sit with any support or eat solid food.
At 8 months our health visitor arranged an urgent GP appointment, and we were to be seen by neurology within the week. Life has been a bit of a whirlwind since then, we had a CT scan and genetic, metabolic, and neuromuscular bloods done that day, and 4 weeks later an MRI. Hoping we would have some answers, but everything came back clear. I was so confused; how could they not have an answer. This was when we started to be warned by professionals that we might not find an answer.
Tests and diagnoses
We then saw genetics and had much more extensive testing done within which Jackson’s dad and I were tested too, the only thing they found was a balanced translocation between chromosome 5 and 15, which means part of 5 and 15 are muddled up with each other. However, Jacksons team aren’t convinced this is the sole reason for his disabilities, but it may play a part. Jackson has collected many diagnoses over the years: Global developmental delay, Macrocephaly, hypotonia, hypermobility, gord, balanced translocation between chromosome 5 and 15, unsafe swallow, tube fed, allergies, bladder and bowel problems, emerging dystonia, complex respiratory problems, absences, autism, arachnoid cyst, autonomic dysfunction affecting temperature and circulation.
He sees a team of 23 different specialists. I couldn’t even count the number of tests, scans and procedures he’s had done, more than any child should ever need to have. He is fed most of his nutrition through his mini button feeding tube, and due to the lack of proper sensation he needs intimate medical procedures daily to manage his bladder and bowel.
Life with Jackson
Over the years our house slowly began filling with equipment to help us let Jackson enjoy life as best as he can. We are in and out of hospital for appointments, tests and managing Jacksons acute medical issues. Jackson has had a skin biopsy done to aid diagnosis, but this didn’t find any answers. Last year Jackson had a lumbar puncture done to test his CSF however this didn’t lead us any closer to a diagnosis. Genetics have reviewed Jackson again and further testing is now being done since new issues have presented. It’s an ever-evolving process because as new symptoms appear and when a new individual diagnosis is given, it can open up different panels of genes for the genetic doctors to test.
Jackson attends a specialist nursery and will be starting school in August. He will be attending a wonderful local school that supports children with severe and complex additional support needs so we are hopeful he will thrive at his new school. Jackson is non-verbal but finds his own way of communicating and always seems to get what he wants. His cheeky smile and strength get us through the good and bad days.
Finding SWAN UK
We first found SWAN in 2020 when Jackson was about 18 months old, right back at the start of our journey. Finding support through SWAN has been invaluable to our family. It is such a lonely time, we don’t know 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 handle 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.
