Hospital again

This morning Annie noticed Raphael was dopey and had a high fever and so she took him to our local GP. She immediately told Annie to take Raphael to the emergency department in hospital and so Annie rushed in.

Raphael was admitted to hospital and a doctor drained him of blood (well took eight vials anyway) and shoved a catheter up his penis (ouch!) to extract some urine. Annie said that she did an excellent job. I left work in the afternoon and arrived at the emergency department but Raphael had just left and was travelling to the paediatrics ward by the time I caught up with them. The antibiotics that they had giving him intravenously had already done a marvellous job by then and had perked back up to his usual jovial self.

After a bit of car and baby sitter juggling we eventually left Raphael sleeping in hospital for the night at about 8pm and went home to have a good night's sleep.

He has another cold

Well his normal flow of mucus has turned green again. This means he probably has another cold. That will make at least six colds that he has had in his short life thus far. Poor little boy.

He was due to have another GA within three weeks, I suppose that will need to be postponed until he is over this cold.

The woes of last night

Last night was a pretty poor night.

Raphael coughed incessantly; Annie was very tired and had to work today so she abandoned me early in the night to look after him and went to sleep in the living room.

He can make the most horrific coughing sounds. They can sound like he is vomiting (complete with squelching fluid sounds) which makes it really hard to know whether I need to get up or not. Of course both Annie and I usually both wake up when he makes this particular sound but we both pretend to sleep to see if the other is going to deal with the situation. I usually win at this pretending to sleep game but of course tonight Annie wasn't there so I had to deal with it.

At one stage I thought I heard him vomit so I dragged my "pretending to sleep" body out of the bed to check on him only to find that he was "crossing the river" (Crossing the river is a Chinese saying that we use to describe a flow of snot that has passed the mouth). But he wasn't just crossing the river, he was crossing a waterfall, a big waterfall, a waterfall of massive ectoplasmic proportions that would have sent shivers down the spine of any self respecting ghost buster. So after mopping him with a box of tissues, I went back to sleep. Well, I went back to pretending to sleep anyway - because of course this did not stop him from coughing for the rest of the night.

The following morning I stopped his pump and went to do my morning business only to find that in the two minutes of me leaving the room he has managed to rip his tube out again. This time he managed to leave the tape perfectly in place. He had managed to moisten up the tape so much that it just wasn't sticky any more. You can see how much tape we put on him; Annie and I thought we had found a fool proof system to prevent him from detubing himself. Of course the master detuber found yet another way to foil our attempt (Raphael: 12, Mum and Dad: 0).

The tubes that are in him are called long term NGTs. They are supposed to last a month before needing to be replaced. The longest he has kept one in for was three weeks, but then he detubed himself three times in the following week to make up for it.

Another medical visit (five this week so far)

Saturday afternoon the ENT registrar at RHH asked us to bring in reports of all of the medical findings because the ENT wanted to go over all of the reports that she could get her hands on to see if there is more that can be done for Raphael. So this morning we dropped in to the hospital with a stack of freshly photocopied reports and letters for them to look over.

We are so glad that Raphael is being looked after by people that genuinely care.

When we first knew that Raphael had a few problems with him, I was concerned that we were in a small state with not many doctors. But now I am growing in confidence because even though we may lack quantity, there seems to an abundance of quality.

Renal Ultrasound

Raphael had a Renal ultrasound today. A renal ultrasound is effectively an ultrasound of the kidneys and bladder.

CHARGE babies can have severe deformities of the kidneys but fortunately this does not appear to be the case in Raphael. They can also suffer from vesicoureterial reflux, where urine can reflux from the bladder back into the kidneys but there is no sign of damage or swelling that this kind of reflux can cause. In addition he has had no unexplained fevers (infections) that could have been the result of vesicoureterial reflux.

This is good news! This is in fact the first test that Raphael has had where the news is that there are no abnormalities/problems.

Commando crawling

Raphael is definitely commando crawling now. He legs are really just swimming along for the ride, but his arms are so strong that he can easily pull himself across the carpet to get to where he wants to go. At the moment the object of choice is typically a box of remote controls that we have between two arm chairs. I think that we will have to move the box back a bit so he can't reach it.

Half detubing

Raphael vomited his tube half out this evening but fortunately both of us were there and ready for the vomit (we heard the warning signs). Because both of us were there we took it in turns to hold his arms and his "chuck cloth" while the other gently pushed his slimy, vomit covered NGT back into his nose until it was seated in place again.

Anaesthetist consultation

We had a long consultation with another anaesthetist today (he is a very patient man fortunately). He will be the anaesthetist who will perform Raphael's next general anaesthetic.

I am not going to cover everything that we talked about. He fortunately let us record his consultation so Annie and I can refer to it again before our next anaesthetic consultation.

The next general anaesthetic will be for a potential mix of the following procedures:

• Grommets
• Taking blood
• CT scan
• Endoscope of the larynx
• Auditory brainstem responses test
  

We talked with our paediatrician about this as well and there is some question over which procedures would be a good idea.

Grommets
Grommets are still the high priority to get his hearing improved. Hearing is so important for language development that this will happen as soon as possible.

Taking Blood
While he is under it is a good opportunity to take some blood for tests. There will be some blood taken to test for DiGeorge sequence (I think that is what it is called - to do with immune response), and some blood taken for possible future gene testing. I think there is another vial to be taken too but I can't remember what that one was for.

CT scan
Now that we have an official diagnosis of CHARGE syndrome there doesn't seem to be need to do this scan. Originally it was going to be used to clarify some of the findings from the MRI. the paediatrician will talk with the ENT as to whether there are any additional benefits, from a hearing perspective, that would be gained from doing a CT scan.

Endoscope
The ENT said that the next time Raphael has a GA it would be a good time to do a thorough examination of his throat with an endoscope. When we questioned the anaesthetist about this he said that it can increase the risk of complications because the extra probing from the endoscope may induce more swelling than otherwise might happen. Effectively this would just be another risk that would need to be managed at the time.

Auditory Brainstem Responses test
Initially Annie and I were keen on the possibility of having another ABR immediately after the grommets were inserted, while still under GA but since:

• The anaesthetist said that this extra long time that he would spend under GA (at least another half an hour, could be an hour) would add risk to the procedure,
• The ABR can be performed on a sleeping baby, and
• He might have to be moved to another theatre for that particular procedure,

We aren't so keen on the ABR happening during the GA anymore and Annie has called the paediatrician's rooms to leave a message for her to cancel that part of the procedure.

(edited 10/3/2007):
Here is a list of the topics covered in this consultation:

• Previous Anaesthetic for MRI
• Proposed Endoscope
• Risks of procedure/s
• Method of Anaesthesia for his condition
• Heart defects
• Kidney abnormalities
• Feeding frequency
• Cold viruses
• When and how long to admit to hospital
• Anaesthetic versus sedation
• Resistance and unexpected reaction to anaesthetics
• What procedures will be performed
• Access to anaesthetist notes
• CPAP usage

First Visit to paediatrician after CHARGE diagnosis

Thank goodness we have finally had a chance to speak to our paediatrician again. We had a couple of pages of questions to ask her but we hardly got through any of them even though we spent over an hour with her.

We covered so much material I don't know where to start, fortunately she allowed us to record the consultation so I think Annie and I will be listening to it again. Dealing with the public health system administration can be very difficult but when we bring any of these difficulties to her she always manages to get them all sorted quick-smart. It has taken us ages to half organise Grommets without her (she was on holidays), but now she is back I am confident that it will happen within the next couple of weeks in addition to a stack of other things that we talked about.

After I have had a chance to go through everything that we talked about I will post another update on what is going to happen.

One definitely good piece of news is that Raphael has finally hit 8kg. All young Australian parents will probably recognise the significance of that... He has finally reached the recommended weight for turning his car seat around.

(edited on 9/3/2007; added topics of consultation):

• Up-comming CT scan
• Disability allowance
• Infatrini Feeding volumes
• Solids feeding and vomiting
• Placement of NGT tubes and self/parent placement possibility
  
• Bowel movements and urine
• Renal ultrasound
• CHARGE manual
• CHARGE Support meetings
• Bad hearing and vocalisations
• Gross motor and Fine motor skills
• Facial eczema from NGT tape
• Feelings about the diagnosis of CHARGE
• Parent sleep and worry about NGT issues
• External observation of kidneys and testes
• Comments on the "Overview of CHARGE Syndrome for Physicians"
• Swallowing and airway problems
• Aspiration pneumonia
• Reflux
• Heart Disease
• Developmental delays and early intervention
• Ear problems/Balance problems
• Eye problems
  
• Sense of smell
• Failure to thrive
• DiGeorge Sequence
• Pain threshold
• Anaesthesia
• Reports/letters that we don't have a copy of
• Appointment with anaesthetist
• How older siblings are coping with less time from parents
• Audo brainstem response test under general anaesthetic after grommets
• Paediatric ophthalmologists
  
• Paediatric cardiologists
• Recorded NGT problems with CHARGE babies
• PEG with fundoplication
  

Another detubing

Over time, Annie and I have developed are more and more complicated system for taping down Raphael's NGT to his face to prevent him from finding a way to pull it out. Today he used a technique to get rid of the tube that he has only used once before. He vomited with such force that he expelled the tube nearly completely. I had to pull it out the rest of the way because it was too far out to just shimmy back in again.

He was so proud of himself having pulled out the tube, until I reminded him that it would have to be reinserted.

Oh well I suppose We'll have to go into the hospital today to have it reinserted.

Added photos to many previous posts

Added photos to many previous posts.

Sitting unaided

Raphael has started to sit unassisted, although only for a minute or two.

Compiled the blog history up to now

phew that took a while!

I know that I missed detailing several paediatrician appointments, at least one ENT appointment and I have barely mentioned the speech pathologist and dietician appointments but there were many in this time as well. I haven't even touched on the number of times that we have been to the hospital to reinsert his NGT after he has extracted it (3 times last week alone).

On average up till now we have had about two appointments per week. Sometimes four sometimes only one. I can't remember the last time that we had a week without an appointment of some kind for Raphael.

Calvary Health Care Children's Therapy Services

Annie met with a social worker from Calvary Health Care Children’s Therapy Services. She is helping us get into the Early Intervention programme and also suggesting other services that are available to parents with disabled children.

The Early Intervention Programme has speech therapists, occupational therapists, and physiotherapists who work together and focus on development in the early years before preschool.

Unfortunately we had already found out most of this information the hard way but it was good to hear that we were doing the right things and also that there was a little more support that we weren't aware of before.

First CHARGE diagnosis in Tasmania

We had another appointment with the geneticist today and told us today that while looking up unrelated information back in his office he found that Raphael was now the first case of CHARGE syndrome diagnosed in Tasmania. We had a stack of questions for hom and he kindly dedicated the necessary time to handle each of our questions in the depth that we wanted to cover them. They ranged from what more tests are required to look for CHARGE conditions, to educational requirements, to how can we improve the quality of his life, and many more.

Prayer for healing

Today I invited someone into my home to pray for healing for Raphael.

I am a Christian and this is no the only time that I have prayed for Raphael. I pray for him at least every night, sometimes with my other kids and sometimes with my wife.

I know that God it able to heal Raphael. I wonder why he has not already done so. I wonder if Raphael can accomplish more of God's plan without the healing that I think he needs.

Another step closer to crawling

He is starting to go backwards when trying to crawl. Works backwards to get up on all fours and then pushes himself backwards with his arms rather than forwards. Obviously this won't be popular for long as the object of desire gets further away with this method.

Learning to crawl

Raphael is one step closer to crawling. He is making lunging attempts to crawl forward using his toes for purchase.

Just a photo (after he detubed himself)

February 2007 - Still not making the right sounds

Raphael is still not making appropriate vocalisations (not pronouncing different vowels). Annie and I have started to learn Auslan in case he turns out to be too deaf to communicate with speech.

We have also started to put headphones on him when we are playing nursery rhymes so we can up the volume for him without blowing the rest of us away.