Getting milk and bags

I just realised that there is another regular appointment that I haven't included yet.

Once per month we have to arrange to go to pick up Raphael's milk supply from the RHH. Each month we load up ten boxes of milk and a large box of feeding bags in the back of our small car. Then we drive them home an download them onto the floor kitchen where we trip over them for the next four weeks.

Hearing aid adjustment

This morning we took Raphael to have his hearing aids adjusted to try to stop the awful squealing from the feedback.

They reduced the high pitch gain and this seems to have improved things a lot. It still squeals if he leans up against something but at least it isn't squealing all the time now.

Putting things on things

Finally he has got the hang of putting things in a designated area. For example he has a music box with magnetic dancing pieces (bees) and he has finally got the hang of putting the bees on the music box so that they dance. Admittedly they don't stay there long becuase he likes to pick them off whenever he sees them dancing on the music box.

It is still difficult for him to do and although he can put things on other things, I have still not seen him intentionally drop something in something else. Or to word it another way, I have not seen him drop an object into a container.

More language development and a game

His "mmmmm" sounds have actually developed a little more. They can vary in pitch and duration and he uses them a lot more than he used to. He used to only use them when he was excited, but now he will make the sounds while playing by himself as well.

He has also started to play peek-a-boo by raising a cloth between us and then bringing it down expecting me to say boo. This is usually followed by uncontrollable little giggles (and Raphael thinks that it is pretty funny too).

Two new notable developments for language

Raphael has started making a new sound "aaaaa". So this has added to his vocabulary of "eeeee" and "mmmmm".

He has also just started to use sounds to get out attention when he wants to be picked up. He will crawl up to one of us and raise his hand, if we ignore him for a little while then he will "eeeee" to get our attention.

Finished beginners Auslan course

Tonight was the last night of the eight week Auslan course. I really enjoyed it and I am using it as much as possible at home. I am sure that Raphael understands some of the common signs that I sign to him. Some common phrases that I think he understands:

• come here
• drink time
• bed time
• finished

When I started the course I was unsure whether Raphael would ultimately use Auslan for communication but I wanted to get started early in case he would. I still don't know know if he will so I might continue onto a level one Auslan course. I have not decided if I will do this yet but I have expressed my continuing interest to the teacher.

Hearing aids

After the morning's gymbaroo, Raphael went to Australian Hearing to have hearing aids fitted. As usual (after gymbaroo) he was exhausted but he performed well for the practical hearing tests and these actually showed an improvement in hearing low frequency sounds.

They customised some digital hearing aids and fitted the ear moulds that had arrived since our last visit. Raphael was well and truly sick of being held by then and so we put him down on the floor where he was happier. While the audiologist explained the use and care of the hearing aids to us Raphael explored the room and the corridor outside the room.

The mould doesn't fit very well in his wonky ear becuase the cartilage isn't in the right places to hold the mould in properly. Apparently this can be a common problem for kids with CHARGE syndrome. Because of this poor fit he seems to get a bit of feedback on the device. The audiologist fitted some kind of feedback protection but now that we have got it home and have put the aids on him I am not convinced that the feedback protections does anything. In the end I just resorted to hold him down and jamming the hearing aid in as hard as I though safe to do. This used much more force than any mother would endorse, it was lucky that Annie wasn't home at the time.

Results of post grommets ABR

We received the results from the post grommets ABR today so we eagerly opened the email to look at the results. We were disappointed with the results, they did not show any improvement at all. The results actually demonstrated significantly worse hearing than previously tested. This was attributed to the blood and "debris" in his left ear.

As far as we are concerned we think that his hearing has actually improved. Annie and I both think that he is much more likely to turn to look for us if we call his name. This is much better than before when we had to yell his name to get a response.

Discharged after the four procedures

He is even happier today and after a quick consultation with his ENT and a paediatrician they were happy for him to go home.

His left ear still has dried blood in it but we are not to wash his ear with water becuase of the grommets. Apparently there is a risk of infection if water gets into his ears.

They prescribed some ear drops (Sofradex) that we are to drop in each ear three times a day for three days. I believe that this is to treat the chronic infections and also help dissolve the wax and blood in his ear.

The four procedures

Grommets, ABR, CT scan and eye pressure test were the four tests to be done on my boy today.

My wife and I arrived shortly after 7:00am to the hospital. Raphael had already been given some preventative ventolin and the anaesthetis arrived shortly afterwards to give him some a drying medicine (to help with his secretions during the operation) and some other stuff. Actually with the number of syringe fulls of drugs that the anaesthetist injected into his line, I was half expecting Raphael to bulge a bit.

His fluid line was still in and the nurse came and asked us to put him in his baby hospital gown so we stripped his clothes of but of course his singlet could not be removed from the line Annie and I had a good chuckle about all of the possible ways that we could potentially get his singlet of him but eventually resigned ourselves to the fact that he would go into surgery with his grotty singlet dangling from the IV tube

Annie and I prayed that we would see his cheeky smile again.

Finally we brought him to the day surgery area where he was going to start his procedures with the insertion of grommets. We even ran into his normal Audiologist who had postponed her travel just so she could perform the ABR test on him.

After a short wait, I was asked to put on a surgical gown and hat in order to bring Raphael into the theatre. After several embarrassing attempts to correctly put on the surgical gown the nurse said that'll do. I can only assume that she would have a chuckle at my expense later, she did a good job at holding a straight face while I was fighting with it. In hindsight it really wasn't that hard to do. I can only assume that my mind was somewhere else completely, preventing me from completing even this simple task.

After wheeling him into the theatre and putting him on the operating table the surgeon advised me that the ophthalmologist would arrive in fifteen minutes to perform the eye pressure test. After that they ushered me out of the theatre and back to the waiting room.

We knew the procedures would probably take over 2 hours (if everything went well). After about 3 hours we were told that Raphael was awake and we went to see him in recovery. He was in a little pain and his eyes and lips were swollen from fluid (not an allergic reaction). He was in much better shape than last time he had a GA. We are grateful for the special preparation that the anaesthetist organised for him.

That afternoon he was hooked up to an oxygen saturation monitoring machine and while he was having an afternoon sleep he had two instances when he could not breath properly and had to be turned onto his side to get him breathing again properly. He had been given some codeine to help with his pain and since his episodes I heard a rumour that opioids like codeine can cause resperation difficulties in babies that are already at risk. This made me question why he was given codeine. I was told that the issue was that he had already had paracetamol, and aspirin was a bigger risk after surgery. There was also mitigation for giving him codeine in that he was given the minimum dose and also that there was a nurse constantly in the room monitoring the oxygen saturations of the kids in the room. It all turned out ok and to put this in context he has previously demonstrated that he can desaturate under normal circumstances when he is sleeping on his back so it may have had nothing to do with the opioid anyway.

Later that evening he even gave a smile although he wasn't quite back to his usual self yet.

Admitting to hospital

Tuesdays seem to be our days for multiple appointments. After the ophthalmologist Annie zoomed Raphael to his Gymbaroo class for the last half hour of it then back to home while Annie had to go to a dental checkup, then fetching the older kids from one baby sitter to deliver them to another babysitter and school and finally rushing Raphael to hospital to admit him for the procedures on the following day.

We spoke to the Anaesthetist that evening. They weren't aware of the eye pressure test yet but the other three procedures were ready to proceed.

Because he has only just recovered from a cold that he has had over the past week we asked the Anaesthetist about whether he thought it was still safe to proceed. He suggested that we see how he was overnight and then check him again tomorrow.

We were planning to stay until he had his line put in for intravenous (IV) feeding that evening but when we found out that it was going to be very late we went home for the night. He was given IV fluids because he had to be fasted from midnight and the anaesthetist didn't want him to be dehydrated before the operation.

Ophthalmologist

We had a long ophthalmology appointment today where we bombarded our ophthalmologist with a page of questions that we had based on research that we had done into charge syndrome.

I will add the list of topics that we covered here after I have had a chance to listen through the audio recording, I think that the most important thing to note was that the eye pressure of his right eye (the good one) is still at the upper limit of the acceptable range.

When we advised the doctor of the general anaesthetic that we are having tomorrow, he commented that this would be a good opportunity to get a more accurate eye pressure reading and we hastily arranged a consent form and someone to actually perform the test.

Another sign

He can now sign "up", well actually it is nothing like the Auslan sign for up, but I believe that it is a generic baby sign for "up".

This crawl speed is now quite fast when he wants it to be and if my wife or I give him a little smile then he responds with his huge lopsided smile and then he tears across the room all fours, booldozing any toys that may be in the way and finishing with him lifting one arm in the air indicating that he wants to be picked up.

Consenting to the procedures

I am finding this decision quite stressful, particularly because Raphael's Paediatrician was away at this time. In my mind I kept going over the pros and cons (as I saw them) of doing each of these procedures. The following were the major points that effected my decision on each procedure:

Grommets
Grommets pros:

• Good chance to improve hearing and therefore verbal and communication skills. I believe that Raphael is at a critical age with regards to learning communication and I am doing my best to learn Auslan (sign language) and sign to him whenever I talk to him. But verbal communication could give him so much more in life and so I am very keen on doing all that I can to allow him to do this.
• Tubes are automatically discharged after six to eighteen months. This means that he won't necessarily have to have an operation to remove the tubes when they are no longer needed.
• No longer have to worry about damage to facial nerve due to pressure build-up in the middle ear.
  

Grommets cons:

• Increased risk of ear infection. I believe that these can be adequately fought with antibiotics and, in the worst case scenario, another surgery can be done to remove the tubes should they prove to be causing more problems that what they are solving.
  
• His ear tubes may vent his secretions. Although this may be only aesthetic, this can also lead to an increased risk of ear infection. I don't want to down play the aesthetic nature of this too much; it saddens me to admit that Raphael gets less kisses and slightly different cuddles than my other children received from me because of his copious slimy secretions from his nose. I have to assume that if his ears leak goo, then this will also change the way in which I show affection to my son.
• Tubes are automatically discharged after six to eighteen months. I realise that I also listed this as a pro, but if the middle ear fluid problem persists after this time is up then he may need to have another operation to fit new tubes.
  
• Requires a short general anaesthetic, but this still has higher risks for Raphael than for most children. The biggest disasters that I can imagine coming directly from this procedure are death, brain damage from lack of oxygen, and/or potential irreversible damage to ears. I see the risks of these events as real but very very small
  

Grommets decision:
I believe that the risk of not doing the operation outweighs the risk of doing the operation. We have decided to consent to this procedure.

Video of fitting grommets that I found on the web

ABR (under general anaesthetic)
ABR (under general anaesthetic) pros:

• Achieves a high likelihood of accurate results which can be used to programme Raphael's future hearing aids accurately.
• Doing the test at the same time as other procedures means that there is some benefit in not having to have multiple GAs.
  

ABR (under general anaesthetic) cons:

• ABR can be performed without a general anaesthetic. But in this case there is no guarantee that it will be possible to gain accurate results; and past experience shows that it is unlikely that good results will be obtained while just sleeping.
• The procedure takes about an hour. This is a long time to keep him under GA.
  

ABR (under general anaesthetic) decision:
This was a hard decision. I would prefer to be able to ask more questions from Raphael's paediatrician about possible alternatives before I commit to consenting to this procedure but for now I am happy to trust the ENT doctor and anaesthetists opinion and skills on performing this procedure.

CT scan
CT scan pros:

• This will be able to reveal more information with regards to Raphael's cochlea and middle ear ossicles. It would be nice if something could be found that can be corrected; I am sceptical that this will be the case though.
• Having the CT scan now means it is combined with other procedures under a single general anaesthetic.

CT scan cons:

• He needs to have a general anaesthetic.
• He needs to be transported from radiography to the surgical area while under anaesthetic.
• He will be subjected to another dose of radiation.
  

CT scan decision:
We have already consented to having this test done in the past and my opinion hasn't changed. I would like to do as much as we can to improve his hearing and if the specialists believe that the risks are manageable then I am still in favour of this procedure going ahead.

G-Tube
Thank goodness I don't have to make a decision on this one any more. I still have lots of unanswered questions about having a procedure to fit a G-tube. The main outstanding questions that I have are regarding what type of g-tube is best to be fitted, the method used to get it in place, and whether a fundoplication is also necessary for him.

I have found a video of someone performing a PEG (one of the three ways that I am aware of inserting a G-tube)


Summary:
I would like the three procedures (grommets, ABR, and CT scan) to go ahead. Even if the outcome is the worst result, I believe that I will be able to say that I carefully considered my son's future life and made the decision to the best of my ability with the best advice that I could find.

Prayer is the only thing left for me to do now.

Confirmed not doing G-tube

Raphael's Paediatrician's rooms called us to confirm that our paediatrician does not want to proceed with the fitting of the G-tube at this time.

Not doing G-tube now

Surgical bookings managed to contact Raphael's Paediatrician and have received advice to hold off on performing the G-tube surgery. From another source I heard a rumour that it is very difficult to perform a PEG on a child this young, keyhole surgery for this procedure is not offered at RHH, and a laparotomy procedure could take 6 hours and so entails considerable risk for a child with general anaesthetic problems.

Pre-admission clinic

After hastily arranging a baby sitter for our older kids we turned up to the peri-operative unit just on time. The administrative staff confirmed the details that they had about us and then we were advised that we were to see a nurse, anaesthetist, and surgical doctor.

We spent a few minutes with the nurse who has some administrative questions to ask and some simple medical questions, eg if he has any allergies.

Then we had a wait before an anaesthetist saw us. He wasn't the anaesthetist that we were expecting to see and the more answers we provided to his questions, the more puzzled he appeared to become. Eventually he worked out that we really shouldn't be speaking to him because we had already had the consultation for the special case that had been arranged for Raphael. We asked him about Raphael's cold that he has had for the last week and he said that we should bring up his issue when we see the anaesthetist on the day of the operation so that the anaesthetist can assess the situation then. He said that the complexity of Raphael plays a big part but also made the comment that Raphael's anaesthetic risks need to weighed up against the long term risks of not repairing the hearing loss as early as possible.

After another long wait we met with an intern who asked us a lot of questions. She apologised in advance because she knew that she was going to ask a large number of questions that we had already answered today. The staff are always so nice and understanding of our situation. After she had finished gathering information we pulled out our list of questions but as she was only filling in for the normal surgical ENT intern, she couldn't answer many of them. She kindly offered to arrange appointments with the relevant specialists.

On our way out to try to find someone who might be able to help us with our questions about the potential fitting of the G-tube we ran into the anaesthetist who is going to perform the GA on the day. Fortunately he could shed some light on the G-tube questions that we had but we still didn't know who had ordered the G-tube surgery, what type of G-tube surgery had been planned and if our paediatrician knew anything about the plans.

After this fortuitous, informative meeting we managed to speak with the person who had managed to arrange the line up of the procedures. From this we found out a few interesting things:

• Our ENT is prepared to give up their entire morning list for Raphael's multiple procedures.
• Our normal RHH audiologist will be away at the time of the procedure so a different one will do the work on the day.
• It seems that no-one actually requested the G-tube. It appears to have purely stemmed from our conversations with various specialists. We mentioned that we thought that our paediatrician will arrange for Raphael to be fitted with a G-tube in the future some time and we questioned whether this next GA would be the right time to do this.
• They seem to have started to organise the G-tube procedure but are still trying to contact our paediatrician. The hospital got a tentative OK to proceed by contacting our GP but I don't know what will happen if they can't contact the paediatrician before the scheduled operation.
  

We are not confident about the G-tube aspect because we seem to have been the driving force where as we would rather the recommendation from from a consultant (not us).

After four hours we got home we called our paediatrician's rooms and even though our Paediatrician is still on holiday; they had just arrived back in the country and so we managed to pass a few messages back and forth. The end result is that we think that our paediatrician is currently recommending against getting a g-tube fitted at this time. There are a number of possible reasons for this decision and although we don't know what they are yet, we trust our paediatrician and so will cancel this procedure.

Pre-admission time booked

Today we received a letter advising us to present at the peri-operative at 12:55 on 11/4/2007 for pre-admission, and if we miss the clinic time then the procedures will be cancelled. Yikes! that's less than 24 hours away.

It is good news that we'll have the chance to talk to someone about Raphael's procedures. I am looking forward to this.

The procedures are scheduled to start at 7:30am on Wednesday 18/4/2007.

Four procedures under the one GA

Last night we received a phone call from the surgical unit at RHH saying that they have somehow managed to line up the four procedures that we had been preparing for:

• Grommets
• ABR
• CT scan
• G-Tube (or PEG)
  

I was excited to hear this news but later that night my sleep was very restless, I kept going through the whole thing in my mind and wondering whether it would be the right decision to go ahead with all of these procedures at once. For CHARGE syndrome kids I have read that it is a good idea to combine procedures under a single general anaesthetic. But having said that, consultations with specialists reveal that long anaesthetics have their own considerable risk.

Yet another NGT

Raphael extracted his NGT again this evening. After his evening oral milk feed he rolled over to play and after a very short time stated to vomit out everything that he had drunk. I was too slow to catch this one with a chuck cloth, but fortunately it was caught by the blanket that we have laid on the ground to catch just such an occurrence.

One of his expulsions pushed out part of the tube. In the heat of the moment I was in two minds as to whether it was still in far enough for me to push it back in again. My indecision gave him the chance to reach up and he tugged it out further. That became the deciding factor and I pulled the rest of the tube out.

If he would have managed to hold onto the tube for just two more weeks then he might not have had to have another one fitted. We have tentatively got a surgery date to have a G-tube fitted (along with CT scan, grommets, and ABR) in two weeks time - more on that later, as we are not exactly sure what is going on with that yet.

Another sign

He has learnt a new sign: "Finished" and this one is very interesting because he is actually using it at the appropriate times. As with all of his signs, he is not signing accurately, but I am not worried about that.

This was actually the first sign (along with "more") that I tried to teach him so it is very satisfying that he has finally picked it up.

Some development

He can now confidently move from sitting to crawling position without cracking the side of his head on the ground.

He has also worked out how to use a hammer to try to hammer little pegs in holes. This is definitely a small step up from his previous attempts where he would swing the hammer and miss the toy completely. He usually ditches the hammer after a short time and then just uses his palm to hammer at the pegs. The pegs usually don't move at all with either method so he then resorts to just pulling the pegs out of the top and chewing on them.

ELT consulation

Raphael went to an Early Learning Tasmania session today with Annie. Annie said that he was a bit bemused with the six or so women with varied specialities giving him their full attention.

• General teacher
• Vision and mobility specialist
• Speech pathologist
• Physiotherapist
• Occupational therapist
• Session recorder
• and of course mummy
  

Another dodgy plug on the NGT

Argh, this is the second NGT tube that we have had where the plug has come loose by itself. you might have notice that it has been over a week since he has had the tube replaced so we thought we were doing well; and then this happens.

A loose plug manifests itself in an devious way. The first sign that you might get is when you pick him up you might put your hand in a gooey slimy patch of vomit on his clothes, becuase this isn't that uncommon anyway we just change him and continue on our merry way until we find yet another vomit patch somewhere in a very short time. After another change of clothes we realise that his new change of clothes is already contaminated. That is when the alarm bells ring and we look for the offending plug. Sure enough when plugging it back in again it just slips straight back out again and the smelly part digested contents of his stomach start to leak out once again.

My wife has discovered that to perform a temporary fix we just need to snip of a plug from an old NGT and plug up the hole with it. And then do a load of washing.

The first photo shows the unplugged tube and the extra piece that we used from a previous tube. The second photo shows the extra piece plugged in, making the normal yellow plug redundant.

You might also be able to see dust stuck to the outside of the tube. This is just because it gets sticky-tape residue on it from where we tape the tube to his clothes during the day.

Hi five

There was lots of fun to be had this evening by encouraging Raphael to give "hi fives" to mummy and big sister.

Also on the development front he has also been known to sign "hello mummy" a few times recently. Two words together; wow! Or maybe it was just "hello" followed by him scratching his head again.

Four appointments today

The four appointments today were: Gymbaroo, Australian Hearing, Let's Sign and a meeting with Raphael's future primary school principal.

I have talked about Gymbaroo before so I won't elaborate further here.

At today's Australian Hearing appointment, Raphael had another functional hearing test. He was seated on his mother's lap and sounds were played through speakers to his left or right and if he responded by turning towards the sound then he was rewarded with either a puppet in a window or a toy elephant drumming on the other side. The results of the test were the same as previous tests with regards to what volume and pitch he could hear. Ear moulds were then taken of his ears canals for the purposes of fitting hearing aids. He wasn't very keen on having his ears filled up with putty; but I have become quite adept at holding his head still.

Today was the last day of the 4 week Let's Sign course. I am a little disappointed that it is finished but I am very grateful to the teacher who went to the trouble of preparing extra signs just for me and giving me one-on-one help with the signs.

After the Let's Sign course we met up with the state coordinator of ELT (Early Learning Tasmania) and the principal of our local primary school to discuss Raphael and his older siblings in the schools. They are extremely supportive and have seem to have fabulous resources to help educate disabled kids and their families. I felt tears of gratitude well in my eyes when they told me what they thought they would be able to do for Raphael and his older siblings.

Crawling to explore

Crawling is now the preferred method of getting around; and he is using it to start to explore our home.

We have learned a few things because of his new found desire to explore. Such as:

• Even if we can't see him, we can work out roughly where he is just by listening for his noisy, gurgley, wheezy breathing.
• Shoe laces might be the most interesting things on the planet.
  
• We know what rooms he has discovered because he has marked his explorations with small slimy patches of nose goop.
• There is no such thing as the "silence warning" with him. For those who don't know what the silence warning is, let me paint you a small picture. Your children are playing out of sight when all of a sudden you look at your spouse and say "I can't hear the kids"; this can only mean one thing... they are up to no good. Because Raphael is quiet all of the time, except for the gurgle and wheeze, we can't hear the quiet patches where he has found a power chord to chew on.

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.