Yesterday we took the trip to the Royal Children's hospital. Master S has been unwell for about five weeks. Too long in my opinion. He has a genetic imprinting on the H19 gene, kvdmr1, a code for a word I choose not to disclose in case he learns what it is.
I feel like an over reactive mother presenting in emergency with my quiet content boy who makes no fuss. Do you have a medical background they ask me. I must have the lingo down. I have just read many a paediatric report on my child's 1 in 15000 condition. I realised when he was about one, the doctors new little typically about his Beckwith-Wiedemann Syndrome. It's my job to know. So don't over look my concerns.
We were sent home yesterday after blood results and chest X-ray came back normal. Then he stops breathing in his sleep. He starts again, three breaths, stops. I count, 18 seconds. Another two breaths. Muted by snoring, stops for 20 seconds.
Thanks to my nurse friend on fb, I should not have doubted my concerns. We are here again, back at the hospital. More tests tonight as he sleeps. I must remember to ask for another afp test. They stopped them when he turned eight. The worry is still at the back of my mind. A parents worst nightmare, one an old friend is living at this moment.
I can't highlight and link in easily on the iPad, but Maxabella discussed what's the guts of your blog. Not quite sure what mine is, maybe an exploration of my mental health while I raise three children, two with special needs. Or maybe it's just a diary, of a fruit loop!
Rach xxx
