1 year + 361 days post-transplant

Posted on: 24/03/2016

Another busy couple of days at the hospital. We have had 2 further neurology assessments; more neuro psychometric assessment; heart, abdomen, liver and thyroid scans; eye test; and a consultation with a dietician. This last appointment has rather perplexed me. Although Ava has grown 4cm since our last follow-up in September, the doctors are concerned that she has not put on the proportional amount of weight. After detailing her very healthy and well balanced diet, their conclusion was that Ava eats too many vegetables and not enough cake!! Now I can understand a recommendation for more protein - especially as the issue is muscle mass and  not energy - but to suggest empty calories with zero nutritional value frankly has me baffled. Having said that, as my good friend Rachael pointed out, this is a nation which eats gateau for breakfast, so what can you say?? It's been nice to have Richard here for one night, for a meeting with Prof. Aiuti, the leader of Gene Therapy, although we were unable to discuss the full picture for Ava, as the key tests are still to come. Tomorrow she has a brain MRI, nerve conduction test, bone marrow aspiration and lumbar puncture. These are the real indicators of disease progression or stability. In the meantime, we have good news about baby Oscar who, despite a very critical few days in isolation, has now turned a corner and is faring much better. Last night we met his lovely Mum Leah and twin brother Phelix, who is also scheduled to undergo Gene Therapy. I was full of admiration for Leah who, despite her young age and the enormity of her situation, is coping admirably and with such maturity. Praying that things continue to go well for them all.