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.

ENT appointment in RHH

See the end of "A CT Scan story" 15/1/2007 for a description of this consultation

A CT Scan story

Raphael had his CT scan in rather strange circumstances. He was originally booked to have his CT scan on a Tuesday but then on the Friday before we received a phone call from the hospital saying that they weren’t going to have a Paediatric Anaesthetist available on that day and wanted to change the booking date to the Preceding Monday.

Annie has been really worried about this General Anaesthetic (GA) for him and has been wanting to have the test done while he is sleeping instead because she read that it is possible to conduct CT scans on infants that are sleeping and it may not be necessary to give them a GA. But every doctor that we saw dismissed it as not worth doing because any movement renders the CT scan worthless and it would have to be done again. (The radiation Dose from a head CT scan is about 2 millisievert (mSv) which is about the same dose as an Australian would get in normal life (background radiation) over a year)

On the Monday we went in and were admitted to day surgery, we hung around for a little while and then an anaesthetist came to us (we have met her before, but I can’t remember her name) and she said that the Paediatric Anaesthetist was not available today because he was unwell (actually he had walked into a pole and injured his eye). She suggested that we go home and make another booking.

So at this time we had a CT scan machine and crew booked and a really sleepy baby but no anaesthetist. Annie saw this as her opportunity and so she begged the Anaesthetist to arrange the CT scan with a sleeping baby instead of having a GA. The anaesthetist was hesitant but eventually agreed to try to help us have the procedure done without anaesthetic. She then made a long phone call to the X-ray department to try to convince them of performing the procedure. While she was on the phone Annie and I wondered whether God had hit the Anaesthetist with a pole so we could do this without a GA. We laughed about the possibility but then felt sorry for the poor guy who had hurt his eye. Eventually she returned and advised us that “they” agreed to do the procedure with a sleeping baby.

The radiographer met us down in the X-ray department and ushered us to a waiting bed behind a curtain where the lights could be dimmed to help Raphael get dozy. We had a short wait while another patient was having a CT scan and then just as we were about to go in the radiographer came out to tell us that the radiologist did not want to perform the scan on a sleeping baby because there was practically no chance of the image turning out as babies of Raphael’s age move in their sleep a lot. Not to be deterred we asked to speak to the radiologist and he kindly came out to talk to us. When we told him about our fears of a high mortality rate of CHARGE babies under GA he agreed to perform the CT scan.

The normal high intensity lighting of the CT scan room was turned down only to leave the ambient light coming in from behind the lead glass shield for the operators and the LED lighting of the science fiction like CT scan machine (shaped light a donut) including a laser light cross on his head. We didn’t take any photos in there as we did not want anything to risk anything to disturb Raphael. It is doubtful that a photo could have captured the mood in the room anyway. Raphael’s tiny body was gently strapped down to an adult sized bed and Annie stood over him feeding him a bottle of hot milk coaxing him off to sleep. It was a very different send off than the MRI anaesthetic where he was held down kicking and screaming by three people while the anaesthetist and his assistant unsuccessfully tried to get him into a GA sleep.

He fell asleep after one and a half bottles of hot milk. At this time the radiographer decided that it was a good time to insert the head supports (why she didn’t do this before was a bit of a puzzle to me) but he didn’t stir at all and finally everyone left the room except for me in a lead apron and Raphael lying on the bed. The room was dark and quiet and even Raphael was not making his normal snoring sound (for those of you who have not heard him, he is always making a snoring sound even when he is awake). The bed whizzed his head back and forward through the donut hole and finally slowly passed his head through the machine that seemed to take about a minute. Through all this time he was perfectly still.

After it was all done we took him back up to the day surgery and waited to hear whether he had been still enough for the CT scan results. I was sure that he must have been because I was convinced that he had not moved at all, but unfortunately the message finally came up that there had been some movement and they weren’t sure whether the resolution was good enough.

After a subsequent visit to an Ear, nose and throat doctor (25/1/2007) more than a week later (in the Hospital) about his hearing problems the ENT said that they could see from the CT scan report and from clinical inspection that he had fluid in his ears that is almost certainly interfering with his hearing and that he could need an operation to insert ear grommets in his ear. Apparently this operation requires a General Anaesthetic (sigh). We again told her about our concerns about General Anaesthetic and asked her if the repeat CT scan could be performed at the same time. She thought this was a good idea and said that she was sure that she could arrange it. In addition to this she also thought it was a good idea to do a thorough examination of his throat while he was under GA. So at least now we are going to have several procedures performed at once under the one GA.

(I still think that it was a bit extreme that God had to hit the Anaesthetist with a pole to prevent Raphael from having another GA)

January & February 2007 - Search for support

Armed this “very likely” CHARGE Syndrome diagnosis we started looked for more organised support and found a few things that we wished that we had organised earlier. Did you know that if you look after someone who is disabled or aged that you can get a “Carers Allowance” and possibly a “Carers Payment” from Centrelink (Australian Government welfare). This is turn opens up all sorts of possibilities for discounts on services because you now classify as a concession card holder. The financial benefits that we have found include:

• Carers Allowance
• Carers Payment
• Family Tax benefit changes
• Council Rates reduction
• Land tax exemption
• Aurora bill (Electricity) reduction

And that is just the financial side. There are also services such as:

• Early Learning Centre for disabled children
• Disabled Parking
• A Toy Library for special needs children
• Calvary health care children’s therapy services. This place offers integrated therapies for disabled children (eg speech pathologist, physiotherapy, and occupational therapy)
• All of this and I have still not mentioned the public health service provided by the Royal Hobart Hospital. Even though administrative mistakes are occasionally made, we are very grateful for the free expert services and high level of care that we get through the hospital.

Now we are looking for ways to spend this money to help our boy.

• We are in the fortunate position that it is not necessary for both of us parents to work to make a living and we are in the even more fortunate position that we can both work part time. So now Annie works two days a week and I work three to allow us to spend more time with all three of our kids. Losing a full time salary is of course a big financial hit but we were always planning on doing this for when our kids were little and so it is not a big deal for us.
• So far the only thing that we have spent money on (apart form medical expenses) for Raphael is toys; specifically toys that make noise. Have I mentioned that I hate toys that make noise? Well this is a sacrifice that I am going to have to make. We have a reasonably quiet house otherwise and with his hearing loss we thought it would be good to get some noisy toys so he could get some auditory stimulation apart from us just talking and singing.
• We are thinking about hiring some older kids who sign Auslan to play with him for an hour a day or so although we are not really sure how to go about doing this yet. Not to mention that it feels a bit odd to pay someone to be my son's friend.

An email from the geneticist

After doing some reading on CHARGE syndrome, Annie was convinced that Raphael had CHARGE. She emailed the geneticist to ask him about what she had found and he replied saying that he had gone over the MRI in more detail and he now thought that it was “very likely” that Raphael had CHARGE.

Ophthalmologist

Another Ophthalmologist visit confirmed that his left eye has Retinal Coloboma but his right eye clinically appears to be normal.

He said that there is nothing that can be done for Raphael's left eye but it is important to monitor his right eye to make sure that one remains ok. There were signs of high pressure but the figures are still currently within the safe upper limits.

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.

Paediatrician

Our paediatrician has finally gave into Raphael’s stubborn feeding problems and ordered him to hospital too have a Nasogastric tube (NGT) insertion and setting up a night time feeding regime.

Another Kind of Barium swallow attempt #2

This time it went well. Tube in, down to x-ray, short wait, the correct radiologist was there (phew) and the barium swallow was done with the appropriate x-rays. The result was even good news (not something that we were used to getting). There was no communication found between the oesophagus and the trachea.

Another echo cardiograph

Another echo cardiograph confirms that he still has an Atrial Septal Defect (ASD).

Eye behaviour

The eye behaviour doctor visited again and armed with the information from the ophthalmologist made further recommendations on how to exercise Raphael’s eyes and warned about watching for certain potential developmental problems.

Just a photo

Another Kind of Barium swallow

We arrived at the Paediatric Ambulatory Care Unit (PACU) on time to have the tube inserted for a barium swallow test but after waiting for a short while a nurse came out and sad “You are not supposed to be here today, it is for next week”. After a short some verbal negotiation she went back to check her calendar again and came back admitting that it must have been booked in her diary wrong as we definitely have a barium swallow X-ray booked for today.

We went into a treatment room and wrapped Raphael up in a blanket to immobilise his hands and then the procedure began. She measured the length of tube that she would need, lubricated the end of it and then slid it up his nose and slowly down the back of his throat. Of course he wasn’t very keen on this and thrashed his head from side to side (oops, I was supposed to be holding his head firmly to stop that). The poor boy gagged and choked and coughed and of course this made it all the more harder for the nurse to get the tube inserted. Finally it was over and the tube was tested to make sure it was in his stomach by sucking some bile out and testing it on some litmus paper.

Finally when we got to x-ray a puzzled radiologist asked us if we knew why he was asked to perform this procedure as the order from the paediatrician specified a particular radiologist was to perform the x-rays. He was very nice and very apologetic of the obvious administrative error that had occurred. After a phone call to our paediatrician, he confirmed that it would not be worth him performing the test. He informed us that his specialities were livers, kidneys, breasts, and penises and if we ever needed x-rays for these then he would be the man to see but the last paediatric barium swallow that he did was a long time ago and he would not be confident that he would be the best person to perform the procedure on Raphael. We agreed and were very civil about the whole thing, but afterwards Annie and I had a good rant to each other about the time that I had to take off work and the pain my boy had to suffer for no reason.

Audiologist appointment

Raphael had another Hearing test today called a "Hearing assessment using Auditory Brainstem Responses". Basically he was hooked up to a bunch of wires attached to his head and had a big set of headphones put on him and we then let him fall asleep in his pram. Then sounds were played through the headphones and the brain sensors looked for activity that coincided with the sounds. The findings of this test were that he had 40 decibel (db) hearing loss in one ear and 50db loss in the other. This effectively means that Raphael can probably hear us if we are sitting close and speaking in a reasonably loud voice.

ENT

The ENT did another laryngoscope. This time his nose was big enough to be the entry point (so it should be, I have an enormous schnoz). He said that he no longer thought that Raphael had laryngomalacia but that there was definitely something going wrong back there.

He said that if more information was required on his condition then it might be necessary to see a paediatric ENT Doctor (possibly in Melbourne) but he was going to let the paediatrician decide on whether there was any value in doing this.

Early Learning

Annie started to take Raphael to the Early Learning programme run by the Tasmanian Department of Education.

Paediatrician

The paediatrician examined Raphael again today and recommended changes to his dietary intake, another visit to the ENT, and another kind of barium swallow test where the barium is pumped into his stomach directly via a Nasogastric Tube (NGT) and then it is slowly withdrawn (while still pumping) to show if there are any problems along the length of his oesophagus.

Audiologist

Had an Audiologist appointment where some ear echo type tests were performed. These determined that there was some hearing loss and further test would be needed to establish how much.

Solids for the first time

Introduced solids for the first time at the hospital with a speech pathologist present. Rice cereal… yum. All of our kids have pulled the same expression the first time we fed them rice cereal; just as though we had put the most bitter thing ever into their mouths.

Rolling over

Raphael has started to roll over by himself not just tummy to back but also back to tummy again although this is obviously much trickier for him.

September 2006 - Ophthalmologist

An eye surgeon examined Raphael and commented that Raphael’s left eye had a number of problems that probably renders it useless. His right eye also had some minor problems and it would be a good idea to keep track of that eyes progress to make sure that nothing further goes wrong with it.

Eye behaviour specialist

An eye behaviour specialist visited Hobart once every three months so this was the first time he could see Raphael. He noticed that there was definitely something wrong with his eyes and referred him to an Ophthalmologist (eye surgeon).

Vomiting

With all the different feeding attempts Raphael has begun vomiting. And when he vomits he expels everything. Usually in four or five hoiks he is swimming in a small puddle of everything that we had managed to feed him over the last hour.

This was actually previously diagnosed with a barium swallow as "significant gastro-oesophageal reflux" but this is where we really started to notice the consequences of it.

Osteopathy

Some time in May Annie started to take Raphael to a baby Osteopath once a week to see if that could help his problems. Annie also discovered some information on the web about Chinese acupuncture points and realized that Chinese acupuncture point massage was similar to what the osteopathist was performing on Raphael and so Annie started doing the acupuncture point massage on him every night. the osteopathist also referred Raphael to see an Eye behavioural specialist because of his different sized irises.

May to December 2006 - Feeding

From May to December we had been trying all sorts of different things to help Raphael gain weight based on advice from the staff at the RHH. Breastfeeding, expressing, different types of teats, different types of fortification, formula, different strength formula, different feeding schedules, and finally Infatrini (the highest powered formula that can be safely given to a baby). Also during this time we had many appointments with speech pathologists and dieticians.

Echo cardiograph

This test Showed that Raphael has an Atrial Septal Defect (ASD). “Two small shunts”; this is not a serious problem but will probably worth while revisiting when he is older as it may repair itself. It was lucky that this was found because no doctor has been able to hear his heart this far because of his really loud breathing and the echo cardiograph was actually only being performed to look at the arteries that were surrounding his oesophagus to check if they were squeezing in.

Paediatrician

Finally our normal paediatrician was back from leave and we could consult with her.

She proposed that the number one problem that needed to be addressed was his weight gain and that all other problems could be allowed to wait as they weren’t life threatening and his weight gain may resolve some of those problems anyway. She referred us to the Royal Hobart Hospital (RHH) feeding specialist nurses in Paediatric Ambulatory Care Unit (PACU) and arranged an Echo cardiograph to also be performed in the hospital.

Barium swallow

This is turning out to be a very busy day. Went to have a Barium swallow performed at Calvary hospital with a paediatric radiologist persent. For this test he laid on an x-ray table and was presented a bottle with barium meal in it to drink. To my surprise he hungrily gulped down this apparently milky substance and a series of chest x-rays were taken of him. These showed that he aspirates a bit (sucks the fluid into his lungs), he has significant gastro-oesophageal reflux and that his oesophagus may be being slightly squeezed by an artery.

First ENT visit

Later that same day we visited the ENT. Annie and I carried in our three month, old gurgling like a jack hammer, to the Dr’s office and briefly explained the reason that we had been referred to him. He did a laryngoscopy (sp?) through Raphael’s mouth because his nose was too small for the scope to fit through. Raphael hated it. He sat on my lap with one hand pushing his head back into my chest and the other holding his arms down. Every now and then I had to remind myself to only hold his head firmly and that I didn’t have to squeeze the life out of him with my other arm across his abdomen. This is what fathers are for. Mothers seem have too much heart to torture their sons for a prolonged period of time. After what seemed an eternity the ENT reported that it looked like there was some signs of laryngomalacia but also that he was producing a lot of secretions that were pooling at the back of his throat that he was unable (or unwilling) to clear himself (hence the gurgling sound). He said that all these secretions made it difficult to see what was going on. He recommended a Barium swallow test to try to work out if there was anything basically wrong with his oesophageal plumbing (not the term he used).

First paediatrician visit

Eventually we made an appointment with a paediatrician on the 11/5/2006. This wasn't Raphael's normal paediatrician but we were in a rush. The paediatrician referred us to an ENT doctor for the problems that he was having with feeding and breathing.

Raphael was born

He came into the world with raspy, gurgly breathing (stridor), a crooked mouth and a funny ear but that didn’t stop us from instantly loving him. A bit of suctioning by the nurse did not improve his gurgle.


He added to our little family nicely:

• Paul and Annie Bartlett
• Faith Bartlett (3yo)
• Zachariah Bartlett (2yo)
• and now Raphael Bartlett (0yo)

After a few days in hospital there was a small concern that he wasn't starting to gain weight correctly. His suck was strong but he seemed to choke a lot and get tired quickly while on the breast. Follow up nurse visits after leaving hospital resulted in a gradual increase in concern over his weight gain. Our other children were slow weight gainers too so we weren't that concerned, but it took ages to feed Raphael and lactation herbs didn't seem to be helping the weight gain. If anything he would become overwhelmed by the milk and turn away to stop drinking.

Here is a photo showing his wonky ear and crooked mouth. Normally he is extremely passive but we managed to catch him in this moment of rage when he was 4 days old. Check out the creases on his head!

Introduction

I am writing this blog about my son Raphael and specifically about the genetic disability that he has, called CHARGE syndrome (or CHARGE association).

I will soon publish a long chronological order of events about the problems that Raphael (my son) has been faced with since birth up to and beyond when he was diagnosed with CHARGE syndrome.

After then I will publish events as they unfold about the challenges that he faces in his life.

The entries in the blog are likely to be a mixture of factual summaries and long winded stories.

I hope that this blog will be used for four things

1. To help me remember all of the components of his medical problems and how they interact with his development.
2. To communicate with friends and family about what is going on with my boy. Of course I don't mind to talk about it, but this will be a place where the most up-to-date and accurate information will be published.
3. To provide a small source of information about what parents of CHARGE syndrome children can do for their CHARGE children in my home city: Hobart, Tasmania, Australia.
4. To get it off my chest!
   

The two best websites (and contact information) about CHARGE has come from the US and Australasian CHARGE Syndrome organizations:
http://www.chargesyndrome.org/
http://www.chargesyndrome.org.nz/