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.