Had a busy morning at Great North Children’s Hospital with physio and portage.
It was nice to meet with Jax’s consultant for once when he wasn’t admitted in hospital.
He is still delayed physically and mentally but he is making steady progress – he is most delayed in his speech and language, but he is starting to make “OOOO & RRRRRs” and just for daddy motorbike noises…..
His muscle tone is variable he can go from being floppy to rigid stiff but he is still responding well to Clonazepam ((a seizure medicine, also called an anti-epileptic drug)
An example of that was today when we had physio where he was stiff shaky and got clonus (( this is a muscular spasm involving repeated, often rhythmic, contraction)
This afternoon at hospital he was floppy and didn’t respond at all when they test reflexes (where they whack your knee with that hammer thingy). ………..”another Jackson”
We have a date for his fundoplication operation, which is a surgical procedure to treat gastroesophageal reflux disease (GERD) and hiatal hernia. Hopefully this will be at beginning of November providing we can get a bed in PICU (Paediatric Intensive Care Unit)
Jackson is still aspirating so from a respiratory point of view its important to get it done sooner rather then later.
His consultant still thinks that Jackson has a form of HYPEREKPLEXIA. as this is quite a new disease they are finding different genes that are associated with it every day. Jax may have one of them genes. we will hopefully get more info when the genetic testing comes back. After that, then he will discuss with the doctors at UCL about further screening.
You can find out more on HYPEREKPLEXIA http://rarediseases.org/rare-diseases/hyperekplexia/
We have to carry on dealing with Jax on a day to day basis, his community team will continue to be involved with him. he will have his MRI repeated when he is 2 – this is to check that the protective lining around his brain is fully formed.
Most importantly regardless of all the illnesses and infections he is still the happiest smiley gorgeous little boy i could ever wish for and he is surrounded by love from you lot…. so thank you xxxx
