So last wednesday we had nates neuro appointment and today genetics.
The neuro dr was quite pleased with Nate as he is clearly making progress with his tone and development. He wants to give nates brain time to myelinate before doing another MRI so this has been put off for 6 months or so. The general feeling is that his muscle issues are more central ( brain orientated) than an actual muscle weakness). He implied that had Nate not had a clear genetic syndrome ( those pesky unusual features again) that he would hazard a diagnosis. But as things were he would be led by the geneticist.
The neuro always asks if we have the right equipment and this time suggested special boots to straighten nates feet ( which like to turn in) and a Lycra suit to improve posture, straighten his back, and help tone. Nate is also getting referred to ortho as his back is a bit wonky. Unfortunately Gateshead won't fund the Lycra suit. However we do have a pot of money through fundraising so we will be able to fund the suit ourselves. The suit has been quoted at £640 and will need replacing as Nate grows. This means constant fundraising. We are so appreciative of all our friends' efforts!!!
Today's appointment was with nates geneticist. When told Nate had the lump removed from his mouth, and that it had been tested, the geneticist was visibly gutted when we told her the results were normal. No additional "clues" for her. She noted that Nate was "thriving" ( bloody hell a positive!!!) but still had no clues about a possible diagnosis.
All in all I have stressed myself to high heaven for no reason. Stressed so much I've not slept properly, and my eyes have been going a bit dodgy and ive been feeling disorientated. Not good.
But there's always the house situation to stress about..., and the car.....
