Hi,
I’ve always used this site as a haven for advice but never actually posted until now.
I’ve found myself searching for people in a similar situation I find myself in with my son, without much luck and will do anything to help try and not feel so alone!
My son is 16 months old and has had various health issues on and off his whole life (born with one kidney, urine infection and sepsis early on, reflux, multiple food allergies, gut issues, poor weight gain (85th to 2nd centile) to name a few) , but it’s always been brushed off as another unlucky thing he’s had to deal with and nothing to worry about overall. But my gut from day one has told me something wasn’t right.
Since turning one it’s all come to a bit of a head as he’s not hitting developmental milestones (in all areas) and issues were becoming more apparent. I also have two daughters (6 and 4) so it’s hard not to compare.
At 14 months he was diagnosed with hypermobility and low muscle tone (on the severe side) and has been responding really well to physio since then (and just started crawling). But they also flagged we could be dealing with some sort of syndrome. But we’d just have to wait and see.
This was incredibly hard to hear and the whole ‘wait and see’ was challenging.
Then two weeks ago he had an unexplained seizure out of nowhere, which was literally terrifying. Again, initially it was brushed off as a febrile convulsion despite him having no temperature at any stage (this I’ve since been told absolutely was not the case). The seizure alongside a rough week of illness for him led to an emergency CT scan and ECG. Which thank goodness all came back clear.
He’s since had an EEG (waiting for results) and saw a paediatric neurologist. He confirmed he has a 6-8 month developmental delay and that alongside the seizure and one kidney all point to a neurological syndrome (possibly metabolic). Next week he’ll go under general anesthetic and have an MRI, lumber puncture, genetic blood testing and also an EMG (he doesn’t have reflexes in his legs).
They’ve said after a week or so we should have all but the genetic tests back so will possibly have an idea of what’s going on. But the final genetic results will be 6-8 weeks.
So now we’re in this limbo of knowing somethings wrong, but not knowing what and what the severity is and in constant fear of more seizures. It just feels so terrifying and so lonely.
I guess I’m just wondering if anyone else has been in this situation and what their outcome was? Or just to know we’re not alone (not that I wish this one anyone else).
My son is absolutely perfect in every way and we couldn’t love him more. We just feel so terrified about what’s coming next and what it means for him and his future.
💕