Geneticist Appointment

Some time ago our paediatrician arranged for a visiting geneticist to see Raphael with the paediatrician present as well, but as the geneticist only visits once every two months this was the first chance that we had to see him. He had a chance to scan over the MRI report and he concluded that the only condition that was close to Raphael’s condition is CHARGE syndrome, but he did not think that this fitted enough. The paediatrician and geneticist organised to run a CT scan to do further tests to see if there is anything wrong with his ear bones that the MRI hinted at.

MRI scan

This was Raphael’s first general anaesthetic (GA). He has to hold very still while the MRI is performed and the only way to guarantee this was to put him to sleep. His breathing problems already made him a problem candidate for GAs but there were other problems in store as well.

We arrived for “day surgery” at the Royal Hobart Hospital (RHH) and the staff helped us through all of the administrative work that needed to be done. Then a nurse put some contact anaesthetic on the back of both of his hands so that it would not hurt him so much when they stuck him with the GA needle. Of course he instantly wanted to wipe it all over everything in site but the nurse was ready for this and quickly taped the goo down and then wrapped up his hands in bandages until they looked like little boxing gloves. After a short wait the anaesthetist came to us to have a chat about the anaesthetic that was going to be performed on our baby. But first a flashback:

We really wanted to have this MRI test done to see if it could help with his feeding but when we received the anaesthetic information gathering sheet we wondered whether they would be willing to perform a GA on him. Normally when we fill in medical forms for ourselves they ask if we have any pre-existing medical conditions and I tick “no” in all of the tick boxes down the column. But with Raphael I found that I was ticking yes, and providing more information for all of the questions that they were asking.

Fortunately the anaesthetist assured us that he would be willing to do the anaesthetic even though Raphael was a high risk candidate; and we happily signed the consent form that indicated that we understood that there were respiratory risks associated with the procedure.

We trooped down to the X-ray department and hung around the waiting room for a while. Finally we were called and we were told that only one parent could go into the preparation area and that parent would have to leave once Raphael was asleep. So I started to walk into the MRI room when I was confronted with a large sign on the door “WARNING: POWERFUL MAGENTS. NO METAL OBJECTS TO BE TAKEN INTO THIS ROOM”. A quick mental check yielded that I had a mobile phone, watch, wallet, keys, wedding ring and fly zipper, none of which I would be happy about having ripped off me by a powerful magnet. The radiographer realised that I had stopped following behind her and she turned to see me staring intently at the large warning sign. “Don’t worry about that” she said ‘easy for her to say’ I thought, ‘she isn’t the one with serrated metal close to her crotch’. Anyway I took her advice and sure enough I did not sustain serious injury that the huge warning sign implied might happen.

I laid Raphael down on the preparation bed and a swarm of medical staff surrounded us with tubes, masks, needles, syringes, ties, bandages, swabs, and all sorts of things that I could not identify. I unclothed him and the anaesthetist got to work with putting him to sleep.

I have witnessed a few general anaesthetics and received one myself. It seems like when someone is given the injection that they are basically out in two seconds. But this was not the case with Raphael. The anaesthetist inserted a tap into the back of Raphael’s hand. I am not sure how good the contact anaesthetic is supposed to be that he had earlier, but I don’t think it worked very well in this case. Raphael cried out and began to fight full force. He was given an anaesthetic dose and it seemed to have no effect. The anaesthetist's assistant then held a mask over Raphael's face and after another dose from a syringe, he was still fighting and kicking. After a third unsuccessful dose the anaesthetist said that they would need to intubate Raphael and that I might not like to be here when they do it. I am always interested in medical procedures and am not a squeamish person so I said “I’d like to stay and watch if that is ok with you” but to that he replied “actually I think it would be better for us if you left”. Not wanting to make their life difficult, I left them to it and Annie and I went to wait for everything to be over.

After many hours of not hearing any news, we were getting worried about what was going on. Our queries only resulted in the nursing staff saying as soon as he is awake they will call you to go and see him. After more time and more harassing from us the anaesthetist finally came to us to let us know that there were problems with the anaesthesia specifically that his airway closed up and he was unable to breath for short periods of time. He assured us that each incident was dealt with quickly and there will be no lasting damage. We asked if we could see him but were told that we should wait until he is out of the post-operative intensive care unit as he was on a nebuliser and still having breathing difficulties. After grilling him for information on all the details on what went wrong and making sure that he had written notes on the procedure for future GAs we waited for him to get out of sight and then casually asked some other staff where the post operative intensive care unit was.

We sneaked through little back corridors to find it (it really didn’t look like a place that we were supposed to be in). We found an office just before big floor/wall/ceiling stripes and signs indicating that we definitely weren’t allowed to enter that particular area and we asked the nice lady inside if we could see Raphael. Once she realised that we were the parents of “the charming little baby” she went to check on him and then said that one of us could go in and see him for a very short time. Annie eagerly went in and shortly came out with tears in her eye from what she had seen. “He looks so sick” she said. We found an excuse for me to go in to see him as well and I could see why she was so teary. He was in a curtained off area sitting on the nurses knee. He was fighting to open his sleepy droopy eyes and he was requiring constant supervision for his breathing. He had an huge mask over his face (as though it was sized for an adult's nose and mouth) giving him testosterone and oxygen and his breathing was very strained; his stridor (gurgly breathing) was worse than I had ever heard it before. But I saw something else too, I saw the nurse whose knee he was sitting on. She had a big smile on her face and said it was a pleasure to look after this little baby.

He was admitted to hospital intensive care by the paediatrician and anaesthetist for the night where he could receive one-on-one nursing for the whole night and Annie and I went home to get some sleep.

The next morning we were woken up at 6:00am by a phone call from the hospital saying that Raphael was crying and they could not comfort him. Now of course he hadn’t eaten anything for over 24 hours so Annie told them that he was hungry and could be given some formula but they didn’t think that was the problem. Annie rushed to the hospital and I looked after the kids at home. After a short while Annie returned home with my boy. I asked her what the problem was and she said “he was hungry of course!”.

Thus ended the MRI saga.

Hospitalisation for Nasogastric tube (NGT) insertion

from the 4/12 to 8/12/2006 Raphael was hospitalised for getting an NGT and setting up a night time feeding regime. I (Paul) had a really bad cold at that time and between Annie and I taking shifts at the hospital and looking after our other kids, I did not get the rest that I needed to get over the cold. But the good news was that with the NGT, Raphael was able to put on over 100g a week. While consulting in the hospital, our paediatrician visited Raphael and ordered an MRI of his head and upper chest to see if that will help diagnose his throat problems. That was scheduled for 18/12/2006.