We visited with the paediatrician, Dr. Dunstan today, as a follow up from our last hospital visit. We filled him in on our last visit to Melbourne and he was happy to hear her brain scan was all clear. He was pleased to hear she’s feeding well and that her blood-glucose levels are remaining stable even after 6-7 hours. Even he began to wonder if we were dealing with GSD as well and he was wondering out loud about the state of her liver when we jumped on him to ask him to please poke her tummy and tell us what he thought. We’d been waiting for this appointment for a while – just so someone could feel her liver and give us an idea.
He patted and poked for a bit and his initial thought was that her liver didn’t seem too prominent and not obviously enlarged. I know my heart leapt into my throat – it’s the news I wanted to hear but had tried to convince myself I wouldn’t so as not to get my hopes up. He was very keen to get an ultrasound done – good because begging for one was going to be my next step – and wanted the results before he went on leave for a couple of months so he called down a favour to the radiology department and got us an immediate appointment.
So we wandered down to the ultrasound area and only had to wait half an hour before they could fit us in. I was so nervous as I laid Alyssa on the bed and sat down.
Long story, short, Alyssa’s liver still appears to be larger than expected for her age but not massively so. When she had her first ultrasound at about a week old it measured 7.5cm across and now it measures 8.3cm. So it’s grown but then so has she and the sonographer believes it has grown proportionally to the rate she has grown in that time. She said it shouldn’t be much larger than her kidneys at this stage and it was definitely bigger. So that brought me back down from the ‘hope cloud’ pretty quick.
However, the texture of her liver does not appear as bad as her first scan was. Her first scan showed a very ‘patchy’ liver – echogenic was the term used – which signifies what they called, a ‘fatty’ liver, which first alerted them to a problem. They said she appeared to have a fatty liver much like an adult would have, which wasn’t normal for a baby. Her scan today shows what appeared to be a normal, healthy liver – just bigger than it should be at this stage. She said it was a obvious improvement in the liver’s appearance from seeing her previous scans so we’re left with great news and ok news.
We tried to contact the Melbourne metabolic specialists today to get an opinion on what they think this might mean, but no-one was available and no-one had been able to get back to us today so hopefully we’ll hear from them soon.
So now we’re left waiting for the genetic testing to return as it’s the only way now for us to know if we’re dealing with Glycogen Storage Disease or not. As it is, this will only tell us if it’s GSD Type 1a or not. It’s possible she might have another mutation of GSD which is a milder form. We can really only guess which does no good so sit and wait is the preferred method of surviving this phase!
And we wait …