ENT

Our ENT spent over an hour and a half with us today.

She examined his upper respiratory tract with an endoscope to confirm that there is no blockages that could have caused the poor oxygen levels during his last hospital stay. The only thing of note found in this endoscopy was the confirmation of his laryngomalacia.

Examination of the ears revealed a stenosis (extra narrow path) of the external ear canals and a chronic inflammation of the ear drum due to fluid build-up in the middle ear. [Previously in this blog I referred to this inflammation fluid as "otitis media" but I was told that that was an incorrect term.] Inserting grommets is still recommended as an attempt to resolve this inflammation (and associated conductive hearing loss). We were warned that because of the copious secretions in his throat, we may find that his ears may leak like his nose does. This is a potential infection risk that may require frequent ear drops.

We also discussed other procedures that could be done under the same GA:

• PEG insertion
• CT scan
• ABR test

The ENT also told us that getting two procedures done at once was very difficult, getting four together may be extremely difficult. The nurse in charge of booking the theatres and surgical teams gave us some of the reasons for this impracticality and didn't think that it would be possible to achieve. I still don't know if this is a good idea to do all of these procedures together as these other procedures will add a considerable length of time to Raphael's anaesthetic. I don't know what the best thing to do is anymore with regards to all of this, but I do know that want to improve his hearing as soon as possible.

We have another Australian Hearing appointment on Tuesday 3/4/2007 which I believe will be an opportunity to fit hearing aids.

Crawling on hands and knees

Although he still prefers to use his lizard like locomotion for high speed travelling, he has started to occasionally take three or four 'steps' on his hands and knees.

[Also depicted in the photo is Royal (or Roy for short). He is the cuddly rabbit toy that the Royal Hobart Hospital gave to him for staying in the paediatrics ward.]

appointment day

Today was a busy day. This is my (Paul's) day off but Annie had to take the morning off aswell because of the number of appointments that we had lined up. Today we had:

1. Consultation with PEG nurse,
2. Gymbaroo (gross motor development for Raphael),
3. Consultation with ENT,
4. "Let's sign" sign language course, and
5. Tonight Raphael's Early learning teacher will come to our house to discuss a learning plan for Raphael.

Appointment with PEG nurse

A specialised nurse came to see us this morning, before the ENT appointment, about the procedures and practices involved with Percutaneous Endoscopic Gastrostomy (PEG) tubes.

She talked to us about:

• how the ways in which the procedures can be carried out,
• how to care for the tubes or "buttons" (including the regular maintenance),
• what to do in certain unexpected circumstances, and
  
• how feeding occurs through the tubes

Now it would be good to speak to Raphael's paediatrician again to find out exactly what they have in mind for Raphael with regard to the type of procedure and possible additional fundoplication.

Sleep study

Raphael spent two nights in hospital (Sunday and Monday night) to monitor his oxygen level while sleeping.

The first night showed very low oxygen levels, sometimes down in the 60s. The second night was much better only sometimes going down into the 80s.

Because his oxygen was so bad on Sunday night we had an appointment this morning with an ENT doctor in the hospital. As the oxygen was much better last night, the ENT visit was very short; really only to say that we don't need to do anything right at the moment. We have another appointment with the ENT on Thursday where we will have more time to ask questions about his throat and ear problems.

The nurses supposed that his position seemed to effect his oxygen intake. One said that when his head was tilted forward, his O2 levels dropped. I don't know if we will get a formal report from the sleep study. I suppose I'll have to wait and see.

ABR results

The results of the recent ABR test were not as good as what we were hoping.

The test demonstrate a hearing loss up to 50db on his right ear which is "consistent with a moderate, predominately conductive loss". The test also showed a hearing loss up to 40 or 50db in his left ear "consistent with a mild to moderate predominately sensorineural hearing loss."

It was recommended that Raphael be fitted with hearing aids in the short term, "until more accurate results can be obtained."

If his right ear's conductive hearing loss is due to otitis media (fluid in the middle ear), then it is possible that a simple surgery to insert grommets will resolve this hearing loss. Sensorineural loss is much more difficult to repair and I doubt that there is much that can be done to improve the hearing of his left ear.

Standing with aid

Raphael stood holding onto the bars of his big brother's cot in the evening that he got home from hospital. He did not stand up by himself, but rather was placed on his feet with his hands holding onto he bars to support himself. He only held himself there for a few seconds but I still think that this is a step forward in his gross motor development.

Since the first time that he moved from crawling to sitting by himself twice on that first day he has not done it again, maybe it had something to do with him falling over both times and hurting himself.

However, he has pulled himself to kneeling a few times since he did it for the first time.

In hospital again

On Wednesday (21/3/2007) morning Raphael started coughing after one of his vomits. After this did not stop for a while, Annie took him to our GP who was concerned that he might have vomited his NGT out of his stomach into his lung. She pulled his tube out but when this didn't stop his coughing, she sent Raphael to hospital.

Annie called me at work and asked me to come into hospital. I went to the emergency room but it was closed. Huh? Emergency room closed!?!? Oh no wait... the new emergency room has opened in Liverpool street. I had thought that the "emergency" sign in Argyle street must have removed by vandals or drunks.

So I went to the new emergency room and found Annie there. It wasn't long before Raphael was brought into the treatment area and a doctor came down from paediatrics to have a look at him. His temperature wasn't too bad and so he wasn't put on antibiotics immediately like last time. He had a sitting chest x-ray and the initial cursory examination showed no obvious problems in his lungs. Later when the x-ray was enlarged and examined closely, our normal paediatrician found some signs of a previous infection in his lungs.

After a few hours he was transferred up to the paediatric ward and he stayed there that night. His oxygen level was a little on the low side so the nurses tried to give him oxygen with a mask and later with little nostril tubes (I don't know what they are called). But he struggled a lot with this tube on and it seemed as though all his struggling seemed to result in his oxygen level going down rather than up.

The following day (22/3) his temperature had come down and he had stopped coughing. We were getting ready to go home but took the chance to see the dietician while Raphael was still an inpatient.

We are going to continue with primarily feeding him with Infatrini in the short term because his vomiting of solids other than purée causes difficulty in managing a balanced diet. The dietician suggested a number of reducing solids to purée so we will try some of those suggestions out soon. Feel free to leave comments about how to purée meat down to a fine paste if you have any suggestions.

Just before we were about to leave he had his temperature taken again and it was rising again. A paediatrician had a look at him and took blood to have it tested. When the results came back they showed that his white blood cell count was elevated. He was put on intravenous antibiotics again. Raphael is a terrible fiddler and so his line was taped in well and bandaged over the top to stop him from ripping out his line.

He stayed in hospital till today (Saturday 24/3). The antibiotics seem to have worked their magic and he is back to his normal, cheery, smiley self. We will be giving him antibiotics through his NGT three times a day for the next seven days to remove this last infection.

What does he eat?

My sister-in-law recently asked me what Raphael eats and so I thought I would share the information here as well.

At night we have recently worked out a way to crank up his feeds to 450ml of Infatrini (high energy formula). During the day we feed him about 200ml of Infatrini orally.

We also give him a small selection of solids that we know that he will eat with a limited chance of throwing up. We give him a tub of yoghurt or custard (~100ml), puréed fruit (~30ml), and puréed sweet potato or pumpkin (~150ml).

As you can see everything that we feed him is sweet. We are a bit worried about this but it is much harder to get him to eat other things and we are just happy that he is eating at all.

Today we weighed him at 8.29kg

Growth charts at 12 months old

Head circumference:


Length:


Weight:

Key word signing "Let's Sign" course

Our vaccination appointment was an hour late today and I only arrived to the Early Learning signing course just as everyone else was leaving.

The teacher is so nice though, and gave me a quick one-on-one run through of all of the things that the course covered plus some extra signs that she had prepared just for me (because she knows that I know a little bit of signing already and I am very keen).

My Auslan vocabulary from the "Let's Sign" course with extra tuition consists of about 61 words and 26 letters. From the Tasdeaf Auslan course we have covered about 36 words plus letters and numbers. I don't know how much I have learnt from dictionaries, videos and web resources so far.

Raphael's vocabulary is about 5 words so far. He has got some catching up to do! :)

12 month vaccinations

Raphael got his 12 month old vaccinations today. He wasn't happy about it, but he forgave the nurse and I quickly and forgot about it altogether soon afterwards.

Calvary Health Care Children's Therapy Services (CHC) first visit

Annie took Raphael to his first CHC appointment today. At this visit there was a social worker, physiotherapist and occupational therapist).

They all had a short chat about Raphael and then put him on the floor with some toys to see what he could do. After some prompting and testing Kylie said that:

• he is demonstrating some problem solving skills which is better than what she was expecting of him,
• he also demonstrates good concentration
• he is generally delayed in fine motor skills,

The physiotherapist said that the next step for his gross motor skills is to get Raphael moving from sitting to crawling and crawling to sitting.

Information card

Currently we are in contact with 15 different types of professionals and this list changes and grows as time goes on. It is getting tiresome to have to keep on giving people the same details again and again and so my wife wanted a business card with all of our details on it (and the address of this blog) that we can give to people such as friends, educators and medical professionals.
Of course the one that we give out doesn't have the blurry bits on it. Please comment on it if you wish.

One year old today

There were no guarantees that he would make it this far ("Infant mortality is high in individuals with CHARGE syndrome. However, life expectancy has improved for those surviving their first year.") and still no guarantee that he will survive to be an adult ("There is a lower life expectancy in children with CHARGE syndrome because of the high risk for hospitalization and the severe involvements. The highest mortality is in the first three years of life. Studies have shown a 70% survival rate to 5 years.") but we are very happy that our bundle of joy has made it to his first birthday.

He had lots of fun with his new toys. He pulled the bees off the music box, chewed on the xylophone, tipped over the mini play centre, slobbered over the train whistle, pulled the rods out of the hammer toy and hit his brother in the face with the hammer. Now I think about it, it was like a normal day for him really.

We bought a soft continental cheesecake for his birthday so that he could eat some too but unfortunately it still made him choke so he only had a few mouthfuls. This of course means more for the other kids (including me).

A burst of skills over the past week

After a long period of not doing much in his life, this last week has seen a burst of development for him.

He has discovered a bunch of Auslan signs and uses them whenever he can now. His vocabulary consists of:

• hello
• clapping (not strictly Auslan "applause" but pretty close to Auslan "happy")
  
• daddy/mummy (he uses these interchangeably but it is only luck if he gets the right one)
• more (This is associated with solids feeding so he doesn't use it at other times, not even for tickles yet)

His vocalisations are slightly better too. he has started to make an occasionally short sound. instead of always saying "mmmmmmmmmmmmmmm". Now he sometimes says "mmm"

He has definitely worked out the general concept of cause and effect. He has been shaking a rattle for a few weeks now and recently his fine motor skills have allowed him to press big buttons on sound toys that respond with lights and sound.

He has even had the energy and courage to crawl out of our living room by himself.

A successful ABR

The audiologist performed another ABR on Raphael today and this one was much more successful than the last one.

We hooked him up with wires and headphones and even taped the bone conduction device to his forehead so that we wouldn't have to touch him once he fell asleep.

The bone conduction test is used to send sound signals straight through his skull which bypasses the middle ear altogether. This test is a good way to determine how good inner ear and nerves are working. This test showed that his inner ear can detect sounds as low as 30db. A fully developed hearing system can generally hear down to about 20db so this is pretty good especially becuase infants hearing generally continues to improve.

Unfortunately he struggled a bit before falling asleep and knocked the headphones off before could test his total hearing ability. He woke up when we put his headphones back on him but fell asleep quickly afterwards and then he slept for ages. This was enough time for the audiologist to get an excellent sample of information including different pitched sounds. She said that this test showed a small improvement since the last test, but at this age a child's hearing ability fluctuates from day to day.

The audiologist hasn't analysed the results properly yet and said it will be about a week before the results can be posted to all of the parties involved with his hearing.

RIDBC - hearing specialist

I went along to the RIDBC teleconference at the Australian Hearing venue this morning (with Annie and Raphael). The teacher had brought along a hearing specialist to talk about Raphael's hearing and language development.

She explained the stages of hearing and language development and she said that Raphael is still within the normal range for his age. She emphasised using cause and effect to encourage his hearing skills. Eg play a game with him and ask him if he wants more. If he responds (in anyway) then reward him with more of the game.

Point out sounds when they happen and what they mean. eg If you hear a door close then say "that was the door, I wonder who that was" and then take him to go and investigate. Also use simple sounds to associate with toys such as zooming planes and mooing cows.

We don't know how/if his face palsy will effect his speech yet, but it is encouraging that he can close his mouth.

When talking to him it is important to:

• get down to his level so he can see our faces
• speak in a normally volume to him (it is possible that louder volumes can be distorted in babies ears)
  
• speak clearly
• make sure there is no background noise

There are stages in hearing and speech development:

1. Listening skills
   
1. Detection (is there sound or no sound) - Raphael doesn't have a normal range of detection yet, but he can detect some sounds.
2. Discrimination - Determining one sound being distinct from another.
3. Identify sound - knows what a sound is (eg door slamming).
   
4. Comprehension - knows what a sound means eg understanding words such as ball to the level that if we say ball then he might look around for the ball.
2. Speech skills follow (although he might start experimenting with sounds sooner than this to imitate sounds).
   

Crawling and Kneeling

Today Raphael worked on two new gross motor skills

1. using his knees to help himself crawl
2. pulling himself to a kneeling position

He has been using his arms to commando crawl forwards and crawling backwards on all fours for quite a while now, but only today have I actually seen his legs helping him move forward. He certainly isn't "crawling on all fours"; he looks a little bit like a lizard with his knees splayed out wide and his legs kicking/swimming along behind him. He used to be quite slow, but with his new found propulsion he can zoom across the room quite quickly to new and interesting things that he should not be touching.

Pulling himself up to a kneeling position came as a surprise tonight also. When I saw him do it, I quickly grabbed my camera and took a wild shot without doing any lighting tests. Then I managed to get him to do it again with a bit of toy encouragement and my wife grabbed the camera and took a few quick snaps also.

Kneeling is an exciting development for us becuase doctors have told us that his underdeveloped ears will effect his ability to balance.

Auslan course

Another Auslan lesson today. The real teacher came along today (last week was a relief teacher). She is very good at teaching me.

She is completely deaf but does not need an interpreter to communicate with us becuase she is very good at reading lips and we have learnt finger spelling if things get too hard to understand between us.

Paul

Australian Hearing audiologist appointment

Raphael had an appointment today at Australian Hearing with their paediatric audiologist. This is an Australian federal government organization responsible for assessing hearing and supplying hearing aids for children (and other specific groups).

They performed a formal behavioural hearing test on him and found that:

• he responds to sounds above 50-60db
• he is more responsive to high pitched sounds
• he is unresponsive to low pitched sounds (even at 80db)

They commented that this is consistent for babies with middle ear fluid (otitis media). An air pressure test also had results that were consistent with middle ear fluid but she could not make out much about his ear drums because of his small canals.

They said that this test shows that it is unlikely that he has a severe hearing loss and if we sit close to him and talk clearly with no background noise then "he will be getting a lot of what we are saying".

From here they would like us to continue with what we were already doing with regards to trying to improve his hearing (eg more tests at the hospital and possibly fitting grommets). After all of this is done then he needs to have his hearing assessed again to see whether it has improved. If his hearing cannot be improved to hear 30db then hearing aids would be appropriate to improve his hearing at this important early developmental stage.

Weight watchers

We are still watching his weight

Key word signing course

There was a free sign language course put on Early Learning Tasmania (ELT) so we went along to see if it would be good for us. It is a basic 4 week/half hour course and so we were not to sure how much we would learn becuase we have already picked up a small vocabulary of signed English.

The idea of Key word signing is to use Auslan signs when talking to babies or young children but only using a single sign, the key object or activity, for the whole sentence. I am hoping to use this course to expand my Auslan vocabulary.

I am glad we went becuase even though the planned course was very basic, the instructor had something ready for people who knew a little already and afterwards she asked us what sort of areas we would like her to bring material on for us in the coming weeks.

Grand up-chuck

Did I mention that he also threw up/out his NGT aswell?

We were a bit rushed between appointments and when we got home I fed him a pot of custard too soon after he guzzled down all that hot milk when we were trying to get him to sleep for the ABR. Poor lad, he doesn't know when to stop when it comes to eating solids after he has had milk. You'd have thought that I would have learnt though!

So now I have two more chuck cloths soaking in a bucket of water. If you have been to our house and wondered what all the white towelling nappies are doing draped over various objects or just lying on the floor, now you know. There must always be one in reach for whenever we hear the warning sign of an imminent eruption.

Another Auditory Brainstem Response (ABR) test

Before the ENT doctor commits to putting grommets in Raphael's ears, they wanted to have another ABR test done to see if his hearing had improved since the last one. So we went to another two hour appointment today with the audiologist.

Unfortunately he only slept for 30 minutes which was only enough time to test his right ear. This showed that he could only hear volumes over 60db.

Because there was not enough time to test his left ear, I will have to take him to another two hour appointment on Friday to have the test repeated. Hopefully there will also be time to perform a bone conduction hearing test as well. Because this requires touching him while he is sleeping there is a good chance that he'll wake up during this one so I don't know if that will be possible at all.

Gymbaroo

For several weeks now Annie has been taking Raphael to Gymbaroo. This is a special private class for early development. Today was the first day that I went along to this class.

It is interesting with activities to promote balance and muscle tone with special equipment and orientation changing activities. Also for memory with songs and movement.

I think that it is more of a workout for the mums (and dad) than the babies. But I can see how the activities could be helpful for him though . Especially the activities that train balance, such as being pushed around on the omni-directional skateboard.

Pincer grip

A while ago asked us if Raphael had managed to pick up objects with a pincer grip (thumb and pointer). We hadn't noticed him do that, but I must add that I hadn't been looking for it.

Today I noticed him do it but he obviously finds it difficult to aim his fingers at the object. I guess this is because of his poor depth perception.

Lying to siting position

Raphael manage to get himself from a lying position to a sitting position for the first time today. He did this twice. He hasn't mastered migrating from sitting to lying yet though, unless you count unintentionally swinging one leg into the air and nutting the ground with the side of his head, followed by a whimper of disapproval.

More development

He has two new top teeth. These seem to match up nicely with his bottom teeth. I don't suppose he will be using them much any time soon since anything that isn't puréed gets choked on and vomited back up again quick smart.

He has learned to clap hands. I always find uncoordinated babies hand clapping to be entertaining to watch.

He might have signed "all done" today in response to us signing "all done" to him (after finishing his puréed sweet potato). I can't be sure about that though.

First RIDBC teleconference

Annie took Raphael to his first RIDBC teleconference session this morning. I was not there so I can't comment on what went on. I believe that Annie recorded the session though so I'll have a casual listen at home tonight.

Woosh, there goes another NGT

I wonder how much these NGT tubes cost. They don't cost us anything except for about an hour of our time to get them fitted again.

The rostered head nurse greeted me kindly at the paediatric ward. She is always good fun and she is excellent at placing the tubes. She looked at my detubed son and said, "he is easy to place the tubes in isn't he".

So I looked at her quizzically and said "you mean apart from the aspiration, blockages and vomiting that usually happens with it don't you?". She hadn't had a problem doing him in the past so that came as a bit of a surprise to her. I praised her past skill in tubing him and so she did his tube again. This time and it went pretty smoothly, as smoothly as it can go anyway.

First Auslan course

Although I have been learning Auslan from books, videos and the internet, I wanted to get some official training with feedback. So I enrolled in an Auslan course run by TasDeaf. I attended my first lesson today and I think that this will be a good course.

Of course I am learning Auslan because of my son's hearing. We are still not sure how severe this will be but we want to expose him to Auslan as soon as possible to aid in language development at this early age.

Paediatrician follow-up

We spent another 50 minutes consulting with our paediatrician today. The audio recordings that we take are so valuable. I have listened to it in detail again and I have taken notes from it.

I am a very studious listener normally but I still miss some points the first time through. It is also really good to double check the meanings of words that I thought I knew at the time she said them to be sure I understand what she is talking about. She can cover so much material in that time.

We covered many topics in excellent detail during this consultation. We read somewhere in the CHARGE literature that you should limit yourself to three topics per consultation so that you don't confuse the medical professional. But if we limited ourselves to three topics per consultation then it would take us years to get through everything that we want to talk about. Fortunately the paediatrician seems to be able to cope with our bombardment of questions with ease.

In this consultation we talked about:

• Raphael's last hospitalisation
• Sleep apnoea
• Timing of ENT reviews
• Auditory Brainstem Response test
• Organising a case conference with the ENT, anaesthetist and the paediatrician.
• Endoscopy during anaesthetic
• What is known about Raphael's current hearing
• Anaesthesia resistance
• Paediatric Cardiologist referral
• Endocrinologist referral
• Recent blood and urine test results
  
• How we can obtain medical records from the Royal Hobart Hospital (RHH)
• Renal ultrasound results and information on MCU (VCUG) test
• First aid course to handle aspiration and/or choking
• Nasogastric tube (NGT) versus percutaneous endoscopic gastrostomy tube (PEG)
• Vaccination recommendations
  
• skeletal anomalies
  

RIDBC and Australian Hearing

Today we received a package from RIDBC (Royal Institute for Deaf and Blind Children) containing:

• A few toys to borrow (these are great, we had to forcibly extract these cool new toys from our older kids so we could play with them - erm I mean so that Raphael could play with them);
  
• Some suggestions on methods that we can use at home to test Raphael's vision and hearing; and
  
• Some specific games designed to solicit responses from visual and auditory stimulation.

Annie will hopefully go to a video conference with Raphael's RIDBC teacher who is in New South Wales. The teacher said that her speciality is for blind children, it is a shame that in our case Raphael is more deaf than blind, but we are very happy to get the multi-sensory loss early intervention services.

I say "hopefully go" because the venue that hosts the video conferencing facilities in Hobart is owned by Australian Hearing and they will only allow their own clients to use this facility. So guess what we did... that's right, we applied to become clients of Australian Hearing. This bureaucracy is actually good because we were not aware of Australian Hearing before. Australian Hearing are the Australian federal government group responsible for supplying hearing aids for children who are assessed as needing them. To qualify for this free service we need to apply and we are required to have a doctor's referral. So tomorrow morning we have a an appointment with our GP to get one of these. Hopefully all of this will be sorted out by Friday so we can use the video conferencing facility.

First Auslan sign

Raphael signed 'hello' very clearly several times throughout today in response to my signed 'hello'. This is the first sign that I can be sure that he is actually intentionally making.

His mother would have you believe that He learned to sign mummy a month or so ago but I think that she is a bit optimistic about that sign; I think that he was just scratching his head.

Discharged

I arrived back in the hospital at 8:30am today and spent most of the day with my boy. He seems fine now.









He was attached to two pumps in the hospital: his regular feeding pump and a pump for his intravenous antibiotics.






He likes to use his feet to play with toys. And I suppose since they have turned his right hand into a club they really became his implements of choice for his hospital stay.

Eventually the paediatrician came to check on him and we went through a few things while she was there:

• His urine test showed that it was probably not a bladder or kidney infection
• His blood test showed negative for DiGeorge sequence (Association?)
• His previous MRI scan showed that the Auditory nerve appears to be missing to one of his ears but the canal is there and the Brainstem Auditory Response test shows that he does have some hearing in both ears so this information is a bit contradictory.
• The paediatrician reiterated that the information in the CHARGE manual about the 40% death rate for CHARGE babies with an NGTs did not apply to Raphael's case but that sometime in the future he will probably need to be fitted with a Gastrostomy Tube (see http://en.wikipedia.org/wiki/Feeding_tube) and have a Fundoplication (see http://en.wikipedia.org/wiki/Nissen_fundoplication)

We were discharged from hospital at 4:00pm with some antibiotics that we can give to Raphael through his NGT three times a day for the next five days.

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.