1 year + 188 days

Posted on: 02/10/2015

Another nil by mouth start, this time for a swallow function test. The ability to swallow is one of the things that can be affected by MLD and since Ava has started to cough when she is drinking, I wanted to check whether this was the first sign of some degeneration in this area. Ava was very brave as the camera was inserted into her nose, in order to look down her throat. She then swallowed both dark blue solids and liquid whilst we observed her swallowing function on the monitor. Thankfully everything was fine, although it seems that she has a general weakness in her oral muscles, which is a matter of weakened sensory awareness but not degeneration. So we must retrain her oral muscles with exercises, smaller pieces of food and slower drinks, all of which should solve the problem. After this Ava went under sedation for the horrible nerve conduction test (electric shocks), bone marrow aspiration and MRI brain scan. The radiographer immediately informed me that her nerve conduction was the same as last time (i.e. stable) and afterwards the neurologist fed back that there were no new areas of damage in Ava's brain. Ava came round well from the sedation and without any pain or sickness. We received our exercise plan from the physiotherapists and the results of the neuropsychometric assessment from psychologist Francesca - an increase in points and further affirmation of disease stability! We received our discharge papers from Professor Aiuti with a promise of bone marrow results in around 4 weeks, as these must be cultured. So we have finished our assessments for another 6 months and all that's left to do is pack and lament the fact that we haven't had a single gelato owing to the very cool weather. Arrivederci Milano.