Tuesday, 30 December 2008

No more warnings

Raphael is a bit sick again. Nothing major this time (yet). Just high temperature, diarrhoea, vomiting, reduced food intake and increased grumpiness.

The annoying thing this time is he is no longer giving a warning cough/grunt before he vomits. Over the last year he has been gradually giving less and less time between his cough/grunt and his vomiting, but now the first warning that we are getting is being covered in spew.

So in the supermarket, on my friends, in general public places, in the car (a favourite of his), and all over our house he is sharing the contents of his stomach in as many locations as possible.

Saturday, 13 December 2008

Eats chocolate cake for the first time

Since his doughnut triumph we have been trying a few different foods but without much success. But today he successfully manages very small pieces of chocolate cake. This is slightly tougher than the doughnuts.

Thursday, 20 November 2008

Melbourne Sleep Study

On Wednesday we flew to Melbourne to have a Sleep Study performed at the Monash Medical Centre to determine whether Raphael still needed CPAP.

I was unimpressed by the staff who managed the CPAP while Raphael slept. They did not seem to know how to use their own CPAP machine and did not do what I told them to do when it became obvious that they did not know what they were doing. The Nurses were lovely but I don't think that they would dispute the embarrassing mistakes that they made with the machine. It reminded me on how lucky we have been in Hobart where we had the specialist introducing CPAP on Raphael themselves.

Regardless of the errors in CPAP application it was obvious that Raphael is still unable to breath properly when he sleeps. I don't have the specialists final report yet but I am 100% certain that they will recommend continuing with CPAP.

Saturday, 1 November 2008

Raphael eats doughnut for first time

This is the first non-pureed food that Raphael has eaten without choking (much).

He seems to have learned to masticate very small pieces of it into a puree and then he is able to swallow it

Wednesday, 15 October 2008

Back from the conference

I have created a short video (~4 mins) to commemorate our visit to the Christchurch conference. This can be seen here:

I also took a number of notes that I'll be using to give a presentation to Early Childhood Intervention Australia next week. Here are the notes that I took (for anyone who may be interested). If you are one of the speakers and you feel that I have misrepresented what you have said then please comment on this post and I will gladly rectify any issue that you raise.

Charge Syndrome New Zealand 2008 Conference

One on one clinics

Tim Hartshorne (Psychologist and parent of 19yo CHARGE child)
“Try not to spoil CHARGE child... but I don’t know how to avoid it???”

Rob Last (Teacher of deaf and blind) 30y CHARGE experience
Use everything to communicate: pictures, signs, speech, sounds. If someone says that CHARGE child with mild-moderate hearing loss doesn’t need sign language, it’s “bullshit”.
Looking back on his career, there are some children whom he firmly believes would have significantly better communication if he had pushed the parents to do sign language from a young age.
The best way to get family to pick up sign language as a second language is to hire someone (Child of deaf Adults – CODA) to be with you in the home for a day per week and have no speech times.

Is BAHA (bone anchored hearing aid) worth investigating for Raphael?


George Williams (Paediatrician with special interest in CHARGE)
· Keep good records
· Use people that you trust
· Recognise the child’s disability but:
o Don’t let other people put limits on you because of the disability
o Decide on what intervention is worth doing
· CHARGE kids need help to enter puberty (seems like 100% of cases)
· At lease some CHARGE adults have a drive to get married and have kids.

Kasee Stratton (psychology PhD student from USA)
Pain and learning in schools
· CHARGE children can appear to be Resistant to pain and display bursts of aggression:
o Bullying is commonplace for children with disabilities.
o CHARGE kids may suffer from post traumatic stress disorder because of the early medical intervention. This in turn can lead to aggression, self destruction and the loss of self regulation.
o When suffering chronic pain, pain can build up unnoticed until it is excruciating, seeming like it is all of a sudden. This can look like someone flying off the handle for no reason.
o Children with developmental delays express pain less clearly.
· School is hard for children with disabilities.
o Sensory deficits make doing normal things exhausting because of the high concentration that is required all of the time.
o Lack of special treatment in schools makes it hard to perform at optimal level. It is important to get OT, PT and speech pathologist input in the classroom design for CHARGE children. (and I would add orientation and mobility consultant)
o Many people don’t recognise the fact that multiple disabilities do not just have an additive effect on learning difficulties but rather are multiplicative:
Learning difficulty factor <> +
Learning difficulty factor = x x x x
o CHARGE children need specific teaching with communication and social skills. You cannot assume that they will just pick them up like other children.

Tim Hartshorne
Parenting a child with CHARGE
· Questions with no good answers:
o How do we know that we are doing the right therapies?
o How do we know if we are prioritising the right areas?
o What professional advice should we defy?
o Do we have the right doctors and health professionals?
o How hard should we push to get our way with what we think is best?
· Hearing impaired and vision impaired is deafblind
· You will have to fight for services because either:
o He’ll never ... so there’s no point in trying
o He seems fine so he doesn’t need services
o Can only get therapy up to the lower end of “normal” even if skills in other areas are lacking
· Recognise the behavioural issues of CHARGE syndrome
o Poor ability to inhibit emotions
o Trouble shifting from one activity to another
o Obsessive compulsive especially in organising materials
o Inability to notice how own actions are affecting other people
o Inability to self calm/stimulate
o Inability to pay attention
o Can exhibit extreme behaviours to try to self stimulate but can go overboard and meltdown
· All behaviour has a purpose.
· Let the child know that you know what they want even if the answer is no.

James Townshend
CODA - only hearing family member, parent of child with Down syndrome, and teacher of the deaf.
Siblings of children with disabilities
· Alarm bells should ring if you see siblings showing signs of:
o Powerlessness to protect the disabled child from other’s ridicule or impatience.
o Fears that the disabled child’s needs will absorb much of the family resources
o Isolation caused by limits on the family’s social life.
o Diminished self-esteem.
o Real confusion about the disability
o Extra pressure to succeed in school
o Resentment about the role of always being ‘the helper’
· Strategies for siblings:
o Talk to others
o Read about your brother or sister’s disability
o Learn from other siblings who have had similar experiences
o Be willing to teach your parents
o Recognise that your disabled brother or sister has more similarities than differences to you
o Be proud of what your family experience provides you with
o Don’t be afraid to ask for help
o Teach your friends and others
o Keep your sense of humour and a positive outlook
o Remember that your brother, like you, needs to make his own way in the world
o Be the best person your can be
o Get involved in some way
· What can parents do?
o Recognise the uniqueness of your family
o Recognise, value and appreciate each child’s individuality
o Insist that extended family show no favouritism
o Be fair
o Arrange regular special times/ quiet time with hearing siblings
o Be alert for signs of stress in hearing sibling as well
o Limit responsibility
o Praise efforts
o Provide opportunities for siblings to express their feelings
o Have appropriate expectations of siblings. No saints thanks!
o Give siblings strategies
o Listen to siblings
o Admit you do not have all the answers
o Schedule family discussions
o Avoid comparing siblings
o Let siblings settle their own differences wherever possible
o Acknowledge and reinforce positive interactions
o Invite siblings’ friends over often
o Allow the siblings to be involved in activates designed to support the disabled child
o Provide opportunities to meet other similarly disabled children, siblings and adults.

David Brown (Consultant teacher for deaf blind)
· Recent study in USA looking at deafblind school leavers found:
o ½ have no formal communication system – recommendations to deal with this issue are not being actioned.
o 1/3 display Problematic behaviour
o Large majority are not working and are living with parents with little hope for independent living
o ½ have few friends outside their families

Social skills and Emotional Maturity
· Social skills are very important
o People offering residential housing, further education, and employment are looking for people who will fit in and are able to deal with the social demands.
o Education systems in US and UK don’t seem to place much priority on social skills.
o Challenging behaviours are usually tackled punitively without anything being offered to teach appropriate social behaviours.
o Get child involved in the community rather than schooling the child to be “ready” for the community.
· Emotional maturity is not being:
o Totally compliant
o Very quiet
o Very obedient
o No problem
· Emotional Maturity also involves:
o Making demands
o Asserting oneself
o Making one’s presence known
· Teaching emotional maturity involves these steps:
o The ability to identify own emotions (the ability for the child to label their own emotions)
o Understanding why they are having the emotion
o Self regulation - managing the emotion, keeping it under control
o Using emotions to aid ones own situation, ie intentionally summoning up an emotion that will be helpful for a coming situation.
· The adult child relationship is critical in developing emotional and social maturity.
· Emotional and social maturity gives someone skills to guard against:
o Loneliness
o Depression
o Feelings of isolation
o Panic
o Stress

Teaching and assessing
· Too much focus on establishing discreet skills
o eg can stack two 1” blocks, can stack three 1” blocks,
o Why not go on till they can stack 45 1” blocks to keep the child busy until they leave school [sic]
· Little interest in the process of acquiring skills
o When did the child learn this
o How did the child learn this
o Teachers change and records aren’t kept with this kind of information
· What about:
o Problem solving
o Rate of learning
o Generalisation of skills
o Combining skills spontaneously without being taught
o These skills are real independence, real functioning
· CHARGE kids need significant individualisation of the curriculum
o Schools are not good at doing this
o Even in cases where it is recognised that a student needs to have an individualised curriculum/communication and language programme David sees that they kids are still just doing the same as the rest of the kids in the classroom. Even when 1 on 1 assistant available this still doesn’t work properly.
· Consider the value in following the child’s interests as an aid to motivation for learning
o “Where is the joy in this child’s IEP?” – Individual Education Plan

CHARGE syndrome tips and traps
· Therapy in schools:
o Teachers are often unaware of what the child’s therapists are working on
o Therapy only seems to happen when the therapist is present
o Therapists should be embedding the required systems/equipment into the child’s every day environment
o Self regulation issues are not normally addressed at all in schools
o There can be lots of focus on vision and hearing but usually no focus on the other sensory systems (eg taste, smell, touch, balance)
· Consider the mental health issues for the child considering the medical intervention that they endure and the sensory impairments that they suffer from.
· Consider self regulation issues present in CHARGE
o State of arousal ranges from highly agitated to deep sleep.
o It is important for people to be able to move up or down based on their current situation
o CHARGE kids often don’t know what their current state is
o And the don’t have strategies to move themselves up or down by themselves
o You might need to intervene by taking away overstimulating environment or giving a calming activity
· “Feeling safe, secure and understood makes successful learning possible”
· CHARGE kids seem to have rapid turn arounds in emotion. David theorises that this could be put into words by saying “I had no idea I was:
o in pain until I was in agony”
o scared until I was terrified”
o angry until I was furious”
· Use Whatever works.
o If it works then it is good teaching, if it doesn’t work then it is bad teaching
o Don’t blame the child and don’t blame the tools, if it doesn’t work then it is just bad teaching
o Don’t do what is conventionally acceptable, do what works
o Don’t be afraid to make a fool of yourself it works

· CHARGE kids need to be in special positions to maximise sight eg:
o Lying down
o Head well supported
o Maybe even upside down
· People see with their brains, not with their eyes
o When providing visual information, provide context. Eg: “what animal’s head is this?”, not “what is that?”
o Point our important features to provide a reference to what is being seen.
Schooling CHARGE children
· Reducing stress needs to be a high priority because kids with CHARGE are constantly in stress to start with.
· Watch out for sensory defensiveness (for Raphael he hates people holding his arms/hands, but he is willing to initiate the contact if offered)
· CHARGE children have to contend with true multi sensory impairment: vision, hearing, smell, touch, empathy.
· CHARGE children have high developmental potential with therapists.
· In school environment, good outcomes are achieved with:
o 1 to 1 support
o Sensory impairment consultants (vision/hearing)
o Physiotherapist
o OT
o Speech pathologist
o Adapted furniture
o Individualised motivators
o Appropriate communication systems (eg added audio or visual support)
o Individual pacing
o Facilities for rest
o The right teacher (willing to explore for the benefit of education)
· An example of someone, who could not get a supported environment at school, created a home schooling environment by utilising distance education and support time to provide the in home care.

Rob Last
Developing Communication
· CHARGE kids with Mild-moderate hearing loss may not pick up speech as expected. Other senses play a role aswell
o Need to be able to breath well
o Have to have a clear mouth
o Facial muscles have to work well
o Cleft pallet (not Raphael)
o Eating issues
· It may be necessary to support spoken language with a visual language.
o All kids with CHARGE should be given spoken and sign options
· For teaching communication you need the following people:
o A teacher of the deaf who is fluent in sign language
o Paediatric audiologist
o Speech pathologist
o OT trained in sensory integration

Transitioning to school
· Start planning a year ahead
· Go to schools and speak to the principal
· During the year leading up Have thorough assessments made in the areas of:
o Vision
o Hearing
o Communication
o Physical development
o Orientation and mobility
o Occupational therapy
o Cognition
· Consider the Inclusion support workers and therapists that child will require
o Inclusion support worker
o Visiting teacher of the deaf
o Visiting teacher of vision
o Speech pathologist
o Occupational therapy
o Physiotherapy
o Be sensitive the teacher because this is a lot of people that have to come into their classroom
· Will the school welcome visiting role models eg Jasmine, Belinda, Ellen
· Is the school willing to offer Auslan as a second language.
· Will the school be willing to make modification eg
o moving classroom around
o erecting blinds
o highlighting edges in yellow
o clearing danger areas
o add lighting to passages
· question the schools policy on:
o diversity
o bullying
o discipline (relevant to your child’s potential behaviour and also the behaviour of other kids to your child)
· Consider the funding that is offered to the school (may differ public/private)
· Consider independent travel to school
· After the meeting with the principal offer a PD session (collaboratively with a teacher that already knows the child well and the parent) on your child to his new teachers
o Can do practical simulations eg stand on a wobbleboard, put bluetack in ears and put on vision reducing glasses. Now “write your name”
· Look at school environment (inside and outside) to find possible difficult navigation spots for child that might need modification.
· May need to redo all of the work if school gets a new principal

Wednesday, 24 September 2008

Found it!

I have found the old right hearing aid mould in a rather obscure location. This is much better than the new one because it doesn't have the incessant squealing from feedback caused by the weak fit of the new one.

Monday, 22 September 2008

Got hearing aids

Phew, we have the hearing aids and new moulds.

The bad news is that the new moulds are rubbish we will have to get new ones made and they wont be available in time. Oh well, at least we still have the old left mould still.

Saturday, 13 September 2008

Raphael has a high temperature

He is still ok, the reason that we knew to look was that he was off his food and was drinking a lot. Whenever this happens it is due to a high temperature so Annie tested him and sure enough there it was.

So we have just over two weeks before we leave for NZ and we have no working hearing aids and Raphael coming down with something.

Thursday, 11 September 2008


Raphael coughed all last night. Annie put the humidifier on and increased the CPAP slightly but this did not stop the coughing.

The doctor said that it does not sound like pneumonia, after an examination. So this is probably just yet another cold.

Tuesday, 9 September 2008

Broken hearing aid

I went to cook dinner and it could not have been more than 10 minutes before my 4yo ran intot he kitchen yelling something about Raphael's hearing aid.

On investigation, I found that I could not find his hearing aids at all. Raphael was handing me a piece of a huggie that normally holds his hearing aid to his ear but now it had been pulled apart and he was kindly handing it to me and signing that I should say thankyou to him for giving it to me.

I could hear the squeel of the hearing aids and soon I found them but they had been compeltely pulled appart. After 15 minutes of searching for hearing aid bits, and a rapid return to the stove when I heard the ominous sound of boiling over water, I had found 2 huggies, 1 hearing aid mould (with tube missing) and 2 hearing aids, one of them with the tube attachemnt thread broken nealry in half. I have no idea where his other mould is. I still can't believe the amount of damage that he managed to do in such a short time. He is normally realy good with his hearing aids.

And of course we are going to New Zealand at the end of this month for the CHARGE conference. I hope that Australian hearing can get us an appointment before then to get new moulds made and repair the hearing aids.

Wednesday, 27 August 2008


What we have managed to do for Raphael

My intention for this post is to boast about the progress that we have made with Raphael.
  1. To get Raphael to gain weight in the early months he was given a Naso-Gastric Tube (NGT) to help him get enough food.
  2. We avoided the next step, after an NGT, which was stomach surgery involving a gastrostomy tube and a fundoplication. We managed this by pulling out his NGT and putting him on a strict feeding schedule of rich formula and heavily fortified pureed foods.
  3. We pushed hard to get Raphael's hearing tested early. The testing showed hearing loss which is currently being addressed with hearing aids
  4. Very early therapy, that we initiated, found a problem with his left eye. This was ultimately found to be a severe malformation.
  5. We were advised that his malformed left eye was totally useless (practically completely blind) but after incessantly asking for things that we could do for his eye we were eventually told that patching (right eye occlusion) might help. Disciplined patching has resulted in his left eyesight dramatically improving even to the extent that he is even receiving useful peripheral vision in his left eye even while his right eye is open. Three expereinced ophlalmologists, two orthoptists, and one optometrist told us that we would not be able to achieve this.
  6. There is a three month waiting list to have a real sleep study done in Melbourne or Sydney but my wife pushed hard to get some kind of sleep study for Rapahel because he would stop breathing at night for long periods of time. She managed to get a pulse and oximetry test for two nights in our local hospital and this showed very clearly that Raphael needed assistance breathing at night. This then resulted in Raphael being added to the home care nursing programme and being put on CPAP with a variety of other devices surrounding him.
  7. Our desire to leave no T uncrossed led us to travel to Sydney to get second opinions in all the areas that effected Raphael. This resulted in us comming back to Hobart with the request that he have an adenotonsilectomy. The result of this so far seems to be that we have been able to reduce the pressure of his CPAP and we are hoping that we might be able to remove it alltogether in the no-too-distant future.
  8. despite being completely blind in one eye and haveing no balance sense, lots of dedicated therapy and appointments mean that we ave been able to get Raphael to walk unaided at just over two years of age. I wonder if this might be some kind of record for a child with his medical problems.
  9. We have taught Raphael some sign language (Auslan) becuase of his early hearing problems. He is still unable to talk properly because of his early deafness and throat problems, but Raphael has a functional method of communication with the sign language that we have worked so hard to learn for him.
Of course this is only the list of successes that we have had. It does not cover the amazing multitude of things that we have tried that have gone nowhere.

Lastly I want to give credit where it is due for the amazing Progress that Raphael has made:
  • Thanks to all of his wonderful medical staff, doctors and nurses who have been patient with our incessent and repetative questioning. Thankyou also for your caring for Raphael and having a give-it-a-go attitude even you have know that what we wanted to do was not going to work.
  • Thanks to all of his early intervention therapists and teachers who have accomodated us with extra hours of work to help him extend to his full potential.
  • Thanks to support organisation and our wonderful Australian government for money that has helped us do things like go to Sydney for the expert second opinions and that will help us go to New Zealand for the CHARGE Conference in October this year.
  • Thanks to my dear wife who always has time for Raphael, and the other kids, and is so amazingly organised when it comes to appointments (only missed two amidst the hundreds that we have had). Thanks also for her dedication to dragging him around to the multitude of therapy appointments that he has. Thanks are also necessary for her encouragement in times when I have been ready to give up on some aspects which, in time, have turned out to be some of his greatest successes.
  • Credit to Raphael for his persistent and social nature that have greatly aided his development.
  • Praise be to God for his amazing faithfulness in supporting us and slowly healing Raphael in this trying time for our family.

A couple more Doctor appointments

We have had a couple more appointments with a Pediatrician and his ENT but apart from Raphael having yet another cold and having his left ear clogged with wax there wasn't much to say.

He has completely recovered from his adenotonsilectomy and now that his latest respiratory infection is subsiding, we have managed to reduce his CPAP level to 4.0 without having any desaturations over night. This weekend we are going to try to put him to sleep without the CPAP on at all (only the O2 monitor).

Thursday, 31 July 2008

Not an ordinary eye examination

We saw the orthoptist today and the conversation went something like this. Edited for brevity

After a bit of testing...
orthoptist: his right eye seems to be developing normally
me: should we patch him to see how his left eye is going?
orthoptist: he won't be able to see
me: I think it is worth a try
orthoptist: there is no point he wouldn't be able to see out of that eye because it is too abnormal
me: "you're wrong" (my exact words)
orthoptist: pardon?
me: "you're wrong!" (more exact blunt words)
orthoptist: ok, lets have a try to see what he can see

After a bit more testing with his right eye patched...
orthoptist: I am pleasantly surprised with what he can see with his left eye
me: it is a shame that he is not getting any vision from his left eye when his right eye is open
orthoptist: no he is getting peripheral vision from his left eye
me: I don't think so

After a bit more testing...
me: wow you are right!

After we saw the orthoptist we saw the ophthalmologist (eye doctor) and his general comments were that he was surprised as how the patching had been so successful in improving his vision in his left eye and that, even though his right eye was still the most important eye in terms of real vision for Raphael, it would be nice to get as much vision out of the left eye as we can.

He stressed the importance of not patching Raphael too much, so as to hinder the normal development of his good eye, but our current regime of 30-60 minutes of patching each day (when we remember, ie more like every other day) was not too much and as it had been so successful so far he encouraged us to continue with this method.

The bad news is that since the patching seems to have been at least partially successful we will have to keep on doing it. ie Because we have done all this hard work, we have more hard work to do [sigh].

Wednesday, 30 July 2008

intensivist followup

We had a followup with Raphael's intensivist today after his adenotonsilecomy some time ago.

The plan is that when he gets over his current cold we will reduce his CPAP pressure down to see at what level he starts to desaturate again.

Then about late October we will go to Melbourne or Sydney to have a formal sleep study
done again to see what problem there remain with his breathing while he sleeps.

Sunday, 6 July 2008


Raphael was admitted to hospital on Thursday 3/7/2008 to have the adenotonsilectomy surgery on Friday.

Thursday night I received a concerned call from a anaesthetist registrar who went to check on Raphael saying that he sounded like he had a severe respiratory infection and that it might not be safe to proceed with the surgery. But after I explained his normal state she understood that this was as good as he ever got. His normal anaesthetist also had a look at him that night and agreed that this was as good a time as any.

Friday surgery went smoothly and he was in NPICU (Neonate and Paediatric Intensive Care Unit) within three hours. He was very dopey coming out of his General anaesthetic with morphine, as would be expected. But after a nap and waking up in the evening, he set about his work charming the nurses in the ICU. Because of his risk factors he was kept in ICU overnight but he was in very good condition.

The next day he was moved to the Paediatric ward and we found out later that the nurse handing him over said that she had fallen in love with Raphael and it was so nice to actually be a nurse to a person rather than to machines (which is what ICU nursing is normally about).

The ENT surgeon gave us a quick run down on how the surgery went (adenotonsilectomy and laryngoscopy) and the only thing that we were worried about was that his right ear had some blood in it. (The last time his left ear came back from surgery with blood in it he lost 50db of hearing in that ear).

Sunday morning 6/7/2008 he was discharged and he was very happy to come home again.

Friday, 20 June 2008

Monday, 16 June 2008

Raphael in hospital again

On Monday lunch time we got our mail. One was from the Royal Hobart Hospital saying that Raphael is scheduled to have his operation on the 4th of July. This was a reschedule because last time he was hospitalised with a pneumonia instead of having the surgery.

Raphael must have read the letter and decided to get sick again. Annie took him to hospital on Monday night... another 3 and half hours waiting in the department of emergency medicine (DEM). Near midnight Raphael was finally admitted to hospital because of sustained high temperatures that could not be explained.

Friday, 6 June 2008

Known medical status and development

(for a summary written for medical professionals please look here)

I intend on detailing all of Raphael's medical conditions, one at a time, over a long period of time. I will be using the CHARGE acronym and "other findings" from "CHARGE Syndrome - a management manual for parents" as a topic template.

It takes me quite a while to compile the information that I have and research it so that I understand it all. Don't hold your breath waiting for each detailed description to be published.

If I update these posts with new/additional information then I will change the "post time and date" to make them current and appear at the top of the blog.

Medical areas covered:
Testing shows that Raphael is almost completely blind in his left eye but seems to receive useful vision from his right eye despite the deformities present in that eye.

Cranial Nerves (effecting swallowing and breathing):
Deformities in Raphael's nervous system effect a number of areas:
  • His sense of smell (Olfactory nerve) may be effected (common in CHARGE syndrome) but this cannot be tested for yet.
  • His eyes (see above),
  • Raphael has a left facial palsy which is most obvious at his mouth when he his crying or smiling.
  • There are visible problems with Raphael's left vestibulocochlea nerve; that is responsible for transmitting hearing and balance information to his brain (also see hearing and balance below).
  • Raphael has an uncoordinated swallow (probably the result of a malformed Glossopharyngeal and/or vagus nerve). This means that he cannot swallow anything lumpier than a fine purée. Anything lumpier gets stuck at the back of his throat causing him to cough, gag and then throw up. The uncoordinated swallow also results in him aspirating his food and secretions into his lungs and has resulted in pneumonias where he has required hospitalisation. His bad swallow means that he does not clear his own secretions and so his nose is always flowing as though he has a heavy cold. The secretions have also caused the Eustachian tubes to block up resulting in the need to insert VT tubes (grommets) in his ears.
Raphael has a small Atrial Septal Defect (ASD) (two small shunts) although it has also been described to us as a patent foramen ovale (PFO). This is a minor condition and as many as 15-30% of adults have this and most don't even know about it.

Raphael was unable to take enough nutrients by mouth to grow at a normal rate. He used to take a small amount of nutrient rich formula during the day (by mouth) and at night he was fed the same milk while he sleeps by a nasogastric tube (NGT) and pump. He no longer uses an NGT and now drinks nutrient rich formula and eats pureed foods fortified with a nutritional supplement.

In addition he also suffers from gastro-oesophageal reflux which can lead to vomiting and/or aspiration.

Raphael was delayed and so receives early intervention, lots of parent repetition and one-on-one training with regards to vision, hearing, gross motor, fine motor and language (English,
Auslan and Chinese). He is slowly catching up but it is a lot of hard work.

Ears and Hearing:
Raphael has a moderate to severe hearing loss that is currently being managed with hearing aids. Unfortunately his external right ear is malformed and it is difficult to get the hearing aid to fit well. His left ear has a more severe hearing loss having a substantial sensorineural component to the loss.

Raphael's Vestibule (Balance organ) is malformed and it is expected that this is not functioning at all. This means that he will have to rely on his vision (reduced as it is)
and sense of touch (which may also be compromised in CHARGE affected individuals) to enable him to walk or do anything requiring balance. Despite this Raphael walked at 25 months.

As previously mentioned, Raphael's breathing is somewhat compromised by is uncoordinated swallow, it is also effected by tracheomalacia (floppy skin in airway).

When he sleeps he has short periods when he stops breathing all-together. To manage this he has a CPAP mask that he wears at night. His ears are low-set (which apparently is common in people with genetic disorders) and his head is an unusual shape; this makes it difficult to fit the mask on his head and frequently at night his CPAP machine alarms with a high leak error.

[Still need to confirm the medical side of this] Raphael's voice box has excess skin related to his tracheomalacia. I believe that his vocalisations are not age appropriate but I don't know whether it is because he is hearing impaired or whether the voicebox deformity has something to do with it. I suspect that a combination of both factors is reducing his ability to vocalise.

Wednesday, 4 June 2008

Raphael's growth

The "R" in CHARGE - Retardation of growth

The following are the details of what we know about Raphael's growth.

Medical Information
Raphael's notable growth and development issues consist of the following:

  1. Diagnosed with Failure To Thrive (FTT) on 30/11/2006.
  2. Endocrinologist is happy with growth and does not think that growth hormones is a good idea for Raphael, but would like to have a thyroid blood test done.
  3. "Significant gastro-oesophageal reflux" (barium swallow report 17/5/2006).
  4. Excessive pharyngeal milk and secretion residue. (ENT 11/5/2006). Contrast pooling was also noted in the barium swallow report of 17/5/2006. There are problems with the IX and/or X nerve (Paediatrician consultation 20/2/2007).
  5. Repeated hospitalisations.
  6. Cannot swallow anything lumpier than a fine puree. All feeds are fortified with complete feed supliments such as "Pediasure".
Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:
  1. Failure to thrive is an extended period of time as a baby where poor weight gain and other growth deficiencies are noted. From Rapahel's growth charts up to one year old, you can see the points, indicating his weight, curving away from the normal growth spectrum. In addition you can also see the length and head circumference charts also dragging away below the bottom line. Weight is the first statistic to drop when a child is not getting sufficient caloric intake, once length and head circumference are also exhibiting prolonged reduced growth then there is good reason to find a way to get more sustenance.
  2. A baby should grow normally if provided with the appropriate sustenance (including calories). But babies with growth hormone deficiency can exhibit a number of possible effects from having this problem (which include not growing normally). At this stage there are no signs that Raphael has growth hormone deficiency but because he is in a group that is at risk, he will continue to be monitored.
  3. Gastro-oesophageal reflux is usually seen as vomiting, but it refers to the chronic condition where stomach contents occasionally (or frequently) escape the stomach back up into the oesophagus (throat).
  4. Food, fluids and Raphael's own secretions pool at the back of his throat because he is unable to swallow them properly. In addition to this if he eats anything that is lumpy or not fluid enough then the food that gets stuck at the back of his throat agitates him causing a vomit reflex.
  5. Raphael has a number of medical problems requiring him to stay in hospital and be subjected to medical procedures.
  6. All of his feeds have extra calories and nutritional supplements added to them to ensure that he gets the right amount of nutrition and energy in his diet.
The Implications of These Conditions
  1. Need to increase calorie intake
    • Here are the steps taken to attempt to increase calorie intake:
      • Introduced strict feeding regime to maximise number of feeds during the day.
      • Attempted additional breast pumping to increase milk supply.
      • Attempted supplying entirely pumped milk with added human milk fortifier to increase the calories.
      • Tried a variety of bottle teats to try to find one that Raphael could drink from the most easily.
      • Fortified human milk with formula for additional calories.
      • Special formula "Infatrini" started on 4/12/2006. Migrated to "Nutrini - high energy multifibre" while in hospital in May 2007.
      • NGT fitted on 4/12/2006 for supplemental overnight feeding through NGT
      • An NGT is a short term solution and he used one for a long time. It was planned to insert a "mic-key button" g-tube as a more permanent solution but on 9/7/2007 we removed the NGT to see if he would grow without it and after two shaky months he started to gain weight properly by himself.
    • Reached blue book "3 percentile line" around April 2007.
  2. Will continue to monitor Raphael's weight looking for potential growth hormone deficiency and perform a thyroid blood test.
  3. Raphael's repeated vomiting from the reflux makes it difficult to give him an appropriate quantity of food. We are always walking the fine line of wanting to get as much food into him as we can but not feeding him too much which will result in him vomiting all of it out. Raphael can use sign language to indicate when he has had enough food and he is skilled at knowing when to stop. We find that if we feed him more after he has indicated that he is "finished" then we run a very high risk of him vomiting, even two more spoons might be enough to cause a cataclysmic vomit. To try to stop the vomiting a fundoplication has been ordered for Raphael.
  4. The pooling of secretions and food increases his risk of aspiration pneumonia becuase there is always some loose material near the entrance to his trachea (air pipe). The problem with lumpy foods causing vomiting means that we only feed Raphael puréed foods. However the lack of oral stimulation by not eating lumpy foods is likely to cause problems with learning to speak.
  5. Hospitals are terrible places to feed in. Nurses are generally too busy to provide food at the precise times necessary to maximise his food intake. For example, at home we are able to get about 750ml of milk into Raphael per day but when in hospital we can only get about 500ml in if we work really hard. In addition hospital procedures have required days and days of reduced or no food.
  6. With all the extra calories we are adding to Raphael's food, we have to make sure that Raphael maintains his hydration level appropriately by looking for signs such as clear wet nappies and saliva in his mouth.
His growth is ok at the moment and is improving each time we weight him. He is now putting on weight with fortifeid feeds and no longer requires tube feeding.

Raphael will have a thyroid blood test in the future.

Tuesday, 3 June 2008

Raphael's eyes and vision

The "C" in CHARGE - Coloboma (ocular)
The following are the details of what we know about Raphael's eyes and eyesight.

Medical Information
Raphael's notable eye conditions consist of the following:
  1. Large right eye compared to his left eye (13/10/2006 - ophthalmologist).
  2. Corneas (13/10/2006 - ophthalmologist) are measured as:
    • 11.5 in the right eye (at the upper limit of the normal range);
    • less than 9 in the left.
  3. Intraocular pressures are:
    • right 13/10/2006 (opthalmologist): 19mmHg
    • left 13/10/2006 (opthalmologist): 14mmHg
    • right 16/1/2007 (opthalmologist): 23mmHg (no evidence of glaucoma)
    • right 17/4/2007 (opthalmologist): 21mmHg (no evidence of glaucoma)
    • left 17/4/2007 (opthalmologist): 18mmHg
    • right 18/4/2007 (opthalmologist - under GA): 15mmHg
  4. Right eye is mildly hypermetropic (13/10/2006 - opthalmologist).
  5. Left eye retinoscopy suggests some myopia (13/10/2006 - opthalmologist).
  6. Dilated examination (13/10/2006 - opthalmologist) shows:
    • Essentially normal right eye;
    • Microphthalmic left eye with posterior staphyloma and excavated morning glory type disc. [the MRI report 18/12/2006 confirms this staphyloma]
  7. The "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI report 18/12/2006)
  8. There is "also cupping of the optic disc / optic nerve head in the right globe also", "but much less severe than on the left" (MRI report 18/12/2006)
  9. Right eye has an inferior chorioretinal coloboma at bottom of eye (5/6/2007 - opthalmologist, second opinion).
Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:
  1. I suspect that Raphael's right eye is larger than his left becuase of the microphthalmic (genetic small eye) condition of his left eye (see point 6).
  2. The cornea is the transparent covering over the pupil (black bit) and iris (coloured bit) of an eye. The coloured bit of Raphael's eye is larger than the coloured bit of his left eye.
  3. intraocular pressure is a result of fluid in the eye. The normal range of this pressure is between 10mmHG and 20mmHg (mmHg is a measurement of pressure, see Torr). Raphael's right eye is at the upper limit of acceptable pressure. Under General anaesthetic another reading was taken that shows that there isn't a pressure problem. The readings that are taken under GA are much more reliable because normally the eye is squeezed to take the test which can give a higher reading than the actual pressure).
  4. His right eye is mildly far sighted.
  5. A retinoscopy is an objective method of examining some aspects of vision, it does not rely on a patient's response. a retinoscopy showed that the mechanics of his left eye have some myopia (short sightedness).
  6. His left eye
    • has a posterior staphyloma: bump on the back of the eye;
    • has a morning glory disc: a large gouge where the optic disc is (in the internal part of the eye ball where the nerves converge). A morning glory disc is a specific type of optic disc coloboma. Colobomas are common CHARGE syndrome features. I don't have a photo of Raphael's morning glory disc but I have sketched what I think it might look like. With permission, I have also included a scan from the Australian CHARGE association handbook that describes the parts of an eye with a coloboma; and there are some great photos of them here if you want to see what they actually look like in other patients.
    • . .
    • . .
  7. Raphael's left Optic nerve hypoplasia is the underdevelopment of the nerve that connects the left eye to the brain. I suspect that this is associated with the microphthalmia but I have no texts or professional advice to support this assertion.
  8. The optic disc is the small portion of the back of the inside of the eye where the nerves converge and exit from the eye ball. The optic disc is a cup shape that is actually a blind spot in vision. "Optic disc cupping" refers to when this cup is enlarged thereby enlarging the blind spot and possibly indicating nerve damage. In Raphael's case the cupping noted on the MRI report is just a different way of different way of describing the morning glory disc.
  9. There is also a coloboma (problem with the retina) down the bottom of his eye which is probably going to reduce his upper field of vision from his right eye.
The Implications of These Conditions
  1. I don't think that there is any inherent problem with Raphael having his right eye larger than his left eye, except in this case the smaller eye is microphthalmic (see point 6).
  2. I am not aware of any implications of the retinas being different sizes (right larger than left).
  3. High intraocular pressure (fluid pressure in the eye) is called ocular hypertension. The risk associated with ocular hypertension is that it can lead to glaucoma which is the loss of retinal ganglion cells (nerve cells). This can in turn can lead to blindness. Because Raphael's right eye ( his only good eye) is at the higher end of normal pressure range, it is important to get his eyes checked regularly in case the pressure builds up.
  4. Far sightedness in his right eye can be corrected with glasses but isn't necessary at this stage.
  5. The short sightedness of his left eye could be compensated for with corrective lenses.
  6. Left Eye:
    • Some potential issues of his left eye microphthalmia can be mitigated with "Lens correction for refractive errors, often tinted; lighting according to needs, to control glare" (source: spedex)
    • Raphael's left eye staphyloma is the obvious external sign of the morning glory disk inside his eye. The staphyloma itself is not large enough to cause any mechanical problems; it is the internal component (coloboma) which has the implications.
    • Raphael's the morning glory type disc (coloboma) is so large that it prevents vision in the upper/central and sides for his left eye (including his macula and fovea). Some simple experimentation while putting an eye patch over his right eye demonstrates that he can only see toys as they enter the lower central field of vision. Further testing at 26 months reveal that his left eye vision appears to be suppressed when his right eye is not patched. When his right eye is patched he has enough left eye vision to allow him to walk and manipulate medium sized objects with ease. Colobomas cause an increased risk of retinal detachment. Detachment is disastrous for vision and can only be detected by expert examination or changes in eyesight for the person affected.
  7. I don't know if Raphael's vision is effected by his left eye optic nerve hypoplasia. http://www.blindbabies.org/factsheet_onh.htm describes the characteristics of optic nerve hypoplasia (ONH) as ranging from "normal visual acuity to no light perception. The effect on the visual field may range from generalized loss of detailed vision in both central and peripheral fields (depressed visual fields) to subtle peripheral field loss."
  8. The cupping of the left optic disc noted in Raphael's MRI is the same as the morning glory disc. See point 6 with regards to the implications of the morning glory disc.
  9. Nothing can be done to repair his right eye coloboma, some people have described that these types of colobomas are like wearing a cap that obscures the top part of vision.
"he has very limited or no useful vision in his left eye" (2/2/2007 - opthalmologist). At this stage is appears that Raphael has little practical vision in his left eye and his right eye also may have vision problems in the upper field and is mildly far sighted.

We have been told that nothing can be done to correct the vision problems with his left eye, but there is a good chance that he will have reasonable vision out of his right eye with corrective lenses if necessary.

I have not given up all hope for his left eye yet because I know that he has at least some vision in that eye.

Practical Tests by Behaviour at about 1 year old
Annie and I have performed some practical tests on his eyesight by eye patching each eye in turn and trying to see what he can see by introducing interesting objects into his field of vision.

His right eye seems to have an excellent field of vision and it appears that he can spot toys in the centre, high, low, left and right. He also responds (smiles) to a person who smiles when they are five metres away.

His left eye is hopeless compared to his right. When his right eye is covered he pulls back as though he has been blinded and pulls at the eye patch to try to remove it. This is a very different reaction to when his other eye was covered. His left eye field of vision seems to be very poor. He can only sight toys as they enter the lower central field of vision. He does not respond to anything presented in the centre, top, left, or right of his vision.

When not eye patched and looking up his right eye tracks an object well, but his left eye rolls back and is clearly not even centred on the target at all.

Sunday, 1 June 2008

Raphael's ears, hearing and balance

The "E" in CHARGE - Ear defects and/or hearing loss

The following are the details of what we know about Raphael's ears.

Medical Information
Raphael's notable ear
conditions consist of the following:

  1. "The vestibule is enlarged and only 1 hypoplastic semi-circular canal is identified" (MRI 18/12/2006 and confirmed in CT 18/4/2007). I believe that this finding is bilateral.
  2. Vestibule aqueducts could not be identified (CT 18/4/2007)
  3. "on the left side there is soft tissue density material within the middle ear, possible congenital choleseatoma" (CT 18/4/2007). Physical examination by ENT before and after CT scan shows no corroborative evidence of this.
  4. ABR tests (summarised by audiologist 18/4/2007) reveal that the right ear has a predominantly conductive haring loss whereas the left ear has a predominantly sensorineural hearing loss.
  5. VROA tests show functional hearing as:
    • 50-60db loss in his right ear
    • 90-100db loss in his left ear
    • "bone conduction testing indicates Raphael's hearing loss is conductive in at least one ear" as bone conduction tests gain responses from sounds as low as 15db at 1000Hz and 4000Hz
Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:
  1. The vestibular semicircular canals are responsible for the sense of balance. As Raphael only has one on each side and they are hypoplastic (underdeveloped), this mechanism is not giving him any input as far as balance in concerned.
  2. The passage through the bone that normally holds the vestibular nerve could not be seen, suggesting that no information from the vestibule is being transmitted to the brain.
  3. The CT scan showed some evidence that there could possibly be congenital cholesteatoma in Raphael's left middle ear. However the ENT said that she did not see any sign of a cholesteatoma and, in addition, the left ear was fluid filled which can appear to be skin on a CT scan; so she does not believe that Raphael actually has a cholesteatoma.
  4. Raphael's hearing loss (determined by Auditory Brainstem Response test) in his right ear is mostly conductive which means that there is a problem with the outer and/or middle ear which is reducing the effectiveness of his hearing. Raphael's left hearing loss is mostly due to sensorineural problems which means that there is a problem with his cochlea or nervous system transmitting the information to his brain.
  5. Raphael's hearing loss determined by a VROA (Visual Reinforcement Orientation Audiometry) test shows a moderate to severe hearing loss.
The Implications of These Conditions
  1. With no sense of balance Raphael will be (and is) delayed in gross motor skills. Raphael is likely to walk late and require physiotherapy and mobility training to help him in navigating routs that other people don't have to think about. Raphael started walking exclusively at 26 months.
  2. Erroneous vestibular nervous information can make the afflicted person very sick with motion sickness so, because Raphael's vestibule is malformed, it may be a good thing that Raphael's vestibular nerve is absent.
  3. Because of the hint of cholesteatoma, Raphael will need to be monitored regularly to make sure that there is no abnormal growth in his middle ears.
  4. Conductive hearing loss can often be resolved by the insertion of grommets, but this has unfortunately not resolved Raphael's hearing problems. Raphael's conductive hearing loss component could be bypassed by fitting a bone conduction hearing aid but this solution is not perfect. Little can be done to resolve sensorineural hearing loss short of a cochlea implant, which would be more damaging to Raphael than productive.
  5. The general hearing loss is being addressed by fitting hearing aids while he is awake. Repeated visits to the audiologist are required to make new moulds as he grows rapidly. His abnormal right ear is also creating challenges in fitting his hearing aid successfully to prevent feedback.
Raphael had gormmets inserted on 18/4/2007 and hearing aids fitted shortly afterwards. He wears his hearing aids all the time while he is awake. The exception to this is that we take out his right hearing aid sometimes because it causes a lot of feedback (hich pitched squealing). The problem is that his outer ear is not the right shape and does not have all of the same cartilage that is normally present and able to be used to anchor a hearing aid in.

Raphael is still underdeveloped with regards to his hearing ability. Even though he is receiving amplified sounds, meaning that he should be hearing the same as any other baby of the same age, he has been without an adequate level of sound thus far and his brain has not yet developed the skills to learn how to hear. A hearing specialist is teaching us how to teach Raphael to use and develop his hearing and so we are confident that his hearing will improve.

Raphael's equilibrioception (sense of balance) is hampered by not having a functional vestibular system. Without this, Raphael has to rely on eyesight and proprioception (muscle, skin and joint feedback) to maintain his balance. Raphael finds it difficult to maintain his balance and he often falls over; more so than others of his age.

Raphael's development: physical and mental

The other "R" in CHARGE - Retardation of development

The following are the details of what we know about Raphael's development:

  1. It is noted that Raphael's brain appears normal from an MRI scan (18/12/2006)
  2. Sensory problems are noted with:
    • Hearing from ABR (Auditory Brainstem Response) tests and VROA (Visual Reinforcement Orientation Audiometry) tests. See Raphael's ears, hearing and balance for detailed information.
    • Vision because of bilateral colobomas in his eyes. His vision in his left eye is nearly non-existent but he seems to receive very useful information in his right eye. See Raphael's eyes and vision for detailed information.
    • Balance from malformed vestibules with only one hypoplastic semicircular canal. Practical experiments show him to slow or no response to to unbalancing circumstances. See Raphael's ears, hearing and balance for detailed information.
  3. At this stage Raphael appears to only be slightly delayed in his development which is appropriate considering his sensory problems. The following are the groups of posts where I have noted (what I think) are significant signs of development.
The Implications of These Conditions
  1. A normal appearing brain is not necessarily a guarantee of normal mental and physical development but it is an encouraging sign.
  2. Raphael's sensory problems are likely to delay his development until he receives technology to help compensate for his sensory problems or until he learns to compensate for one sensory loss by using information from another sense.
    • Raphael has been fitted with hearing aids and frequent visits to the audiologist are necessary to continue to try to resolve the problems with feedback that we are having with his right ear. The problems are probably due to the lack of definition in his right ear which make it difficult to find anchor points for the hearing aid.
    • Sadly there is little that can be done for the lack of vision in one eye. If, in the future, Raphael demonstrates that he has some useful vision in his left eye then it may be appropriate to place a patch over his right eye for short periods of time to force his brain to analyse the data coming from his left eye.
    • Poorly developed balance organs mean that Raphael will have to use different senses to compensate for the lack of balance organs (vestibular semi circular canals). Physiotherapy will play a big role in training his other senses.
  3. I attribute Raphael's (only) slight delays to the excellent therapeutic advice and equipment that he is receiving from ELT (Early Learning Tasmania), CHC (Calvary Health Care), and RIDBC (Royal Institute for Deaf/Blind Children).
Thanks to lots of stimulation, Raphael is developing well considering his sensory problems; he has even started to walk at 26 months and has a vocabulary of about 15 Auslan signs. It is encouraging that our hard work is helping him developing well, but this is a double edged sword. It means we need to continue to work hard on his therapies even though we feel drained from the endless appointments and hospitalisations.

Raphael's cranial nerves

The other "C" in CHARGE - Cranial nerves
The following are the details of what we know about Raphael's nerves in his head.

Medical Information
Raphael's notable cranial nerve conditions consist of the following:
  1. Nerve I - Olfactory nerve - cannot be tested satisfactorily at this age. No comments were made about this nerve on the MRI report.
  2. Nerve II - Optic nerve - Raphael's "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI 18/12/2006).
  3. Nerve VII - Facial nerve - facial palsy evident. "I strongly suspect that infact the facial nerve on the left in congenitally absent." (MRI 18/12/2006). The CT scan (18/4/2007) identifies the facial nerve canals bilaterally.
  4. Nerve VIII - Vestibulocochlear nerve - There appears to be problems within Raphael's left IAM: "on the left side there appears to be one larger (vestibular) and one smaller (cochlear) nerve" (MRI 18/12/2006). The CT scan (18/4/2007) identifies a normal cochlea aqueduct but does not identify a vestibular aqueduct bilaterally.
  5. Nerve IX and X - Glossopharyngeal and vagus nerve - Uncoordinated swallow indicates some problems with these nerves. No comments were made about these nerves on the MRI report.
Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:
  1. The Olfactory nerve is used for olfaction (the sense of smell). CHARGE syndrome can result in this nerve not working properly. It is not known whether Raphael has a sense of smell and this probably cannot be reliably tested until he is about 8 years of age.
  2. The optic nerve is used for sight. I suspect that hypoplasia (incomplete development or underdevelopment) of Raphael's left optic nerve is related to the problem with his left eye.
  3. Raphael has a left facial palsy (paralysis) due to a possibly absent nerve. The canal through the bone can be seen on the CT scan suggesting that the nerve is actually present. Usually if the canal is there then the nerve is also there.
  4. Raphael's left IAM (internal acoustic meatus) canal (which carries the vestibulocochlea, autidory, or acoustic nerve and the facial nerve) appears to be small. This canal normally carries three nerves, the cochlea nerve, the vestibular nerve and the facial nerve. the cochlea nerve is responsible for transmitting sound information from the cochlea to the brain. The vestibular nerve transmits balance (or positional) information from the vestibule (part of the middle ear) to the brain and the facial nerve controls the muscles in the face. According to an MRI scan Raphael's left vestibular nerve appears to be the correct size but the cochlea nerve appears to be small and the left facial nerve appears to be absent. But according to the CT scan the cochlea and facial nerves appear normal and the vestibular nerve is absent.
  5. The glossopharyngeal and vagus nerves together, and amongst other things control the swallowing function. It is assumed that Raphael has problems with these nerves becuase of his inability to clear his own secretions in his pharynx (back of this throat).
Some interesting websites on cranial nerves:

The Implications of These Conditions
  1. If Raphael has a lack of olfaction then this can result in different desires for food and potentially social problems later on in life.
  2. See Raphael's eyes and vision for comments on the optic nerve hypoplasia.
  3. It is unknown what effect Raphael's left facial palsy will have on him at this time. It is possible that this can result in difficulty eating (as food may escape the mouth), but this is usually only the case when the palsy is bilateral (on both sides). It is also possible that the palsy will effect his speech.
  4. The nerve problems with his cochlea can effect his hearing. I will be more thorough on this topic when and where I compile the information on his ears. Nerve problems with the vestibule effect his sense of balance.
  5. His dysfunctional swallow causes a few problems:
    • He is unable to properly swallow anything lumpier than puréed sweet potato. Even Mashed potato is too lumpy for him. non-smooth foods will cause him to start to cough which leads to vomiting.
    • He tires quickly and gets frustrated when eating, making it difficult to provide him with the necessary intake of food to make him grow. He has been fitted with an NGT (nasogastric tube) to provide supplemental feeding overnight to compensate for his poor intake during the day. An NGT is only a temporary measure, if he is unable to start to feed normally by himself then ultimately he will need to have a PEG (Percutaneous Endoscopic Gastrostomy) tube. This may also require a nissen fundoplication (fundo) to reduce the risk of gastroesophageal reflux (like vomiting).
    • He cannot swallow his own secretions properly. This results in gurgley breathing and a constant flow of mucus from his nose. Uninformed observers would think that he has a heavy cold because of the amount of mucus that comes from him. If he has eaten anything recently then the secretions are the colour of that food (can be very funny). Suctioning can remove the mucus but the mucus flow is back again within half an hour (closest web reference to suctioning I can find is here). He doesn't seem to be bothered by the mucus.
    • The mucus constantly makes his face damp. This used to moisten the tape that held his NGT (nasogastric tube) down and makes it more likely for him to be able to pull his NGT out. He has no tube now as weight gain is adequate without soon.
    • Increased risk of aspiration pneumonia. Aspiration pneumonia is an infection of the lung due to foreign material (which can include his own secretions) entering the lung. although antibiotics can be very effective in removing the infection, repeated aspiration pneumonia can result in scarring of the lung which permanently damages areas in the lungs functionality.
    • The secretions that are constantly in his throat prevent the fluid in his ears from draining properly through the eustachian tube and results in chronic glue ear. This directly causes conductive hearing loss because the build-up of fluid behind the eardrum prevents it from vibrating with sound waves normally. An operation, to insert grommets to drain this fluid, can be performed to rectify this problem; but grommets are self ejecting after 6-12 months and so the operation may need to be repeated a number of times.
  • At this stage we don't know if Raphael has a sense of smell.
  • His left facial palsy does not seem to cause him any problems at this stage.
  • His left eye nerve probably does not provide him with useful vision.
  • His left ear nerve has decreased functionality but still provides some hearing ability.
  • His swallowing problems have previously resulted in the need for supplementing his feeding with an NGT. There were plans for a PEG, but a successful oral feeding trial has removed the need for any tube feeding.

Saturday, 31 May 2008

Special Disability Trust

We have spent a couple of days investigating Special Disability Trusts. To summarise our findings of them:

They cost a fortune to set up, they are a pain to maintain, the tax law surrounding them is a obscene and they are ridiculously limited in what they can be used for. They are rubbish!

Apparently there are four public servants managing it and there are currently only 10 such trusts set up in Australia.

I am not asking for much. I just want to give some money to my disabled child to ensure that his future is financially secure. But if I do then social security don't recognise that I have done so and the tax office will take the lions share of what I put in.

Monday, 12 May 2008


Normally I don't talk about things other than Raphael in this blog but I will make an exception for this.

My mother-in-law (Mama) was in a car accident shortly after 2:00pm on Monday 12/5/2008 (the day after mother's day). Annie and I were attending a future planning day for children with disabilities and Mama was getting ready to run some errands and then pick up our daughter from school. It is not known exactly what happened but somehow her unpowered car came loose in her driveway and she probably tried to stop the car which ultimately resulted in her becoming crushed between the car and the house.

Mama was rushed to hospital and we found out about the accident at about 5:00pm when we got home from the planning day. We rushed into hospital only to find out that we had just missed her. She had been taken into surgery with severe internal injuries and a few broken bones. I rushed back home to arrange babysitting for the kids and the hospital kindly agreed to look after Raphael for the night as he was only just out of hospital and our babysitter was not trained to handle the CPAP machine. After I made it back into hospital to be with Annie, I found her talking with the surgeon who had said that they had done all they could and now they just had to hope that her liver would stop bleeding. We went back to waiting but it was only a few short hours with praying before we were told that she had died.

Annie was Mama's only child and they had a very special bond with each other. Mama also provided us with invaluable help by babysitting our other kids while we took Raphael to appointments. The news was a big shock to us and Annie took it particularly badly. Mama was also the sole carer for an elderly veteran who was a close family friend and her passing means that we inherit the responsibility of care. He has no family who can help him and he has been like a father to Annie in Australia. To our children he is uncle Max, he is the only honorary-family-member that we have.

Max has just sold his house that he and Mama lived in and has bought a new house close to where we lived so they could see more of the children and so that we could help each other more. the new house is in the middle of being renovated and Mama has packed up most of the old house but there is still a lot that needs to be done and Annie and I will have to do that because Max is not able to this for himself.

Mama leaves a memory of generosity and kindness but she will also be remembered for her furious rage that would boil over occasionally. The only reason that I mention this is that the time of her accident matched up with the awful earthquake in southern China on that same day. Her anger could be so enormous that I would not be surprised if her raw anger over the accident was a catalyst for this natural disaster.

The photo here is was when she was about 40 and was her favourite photo of herself.

We will miss her.

Saturday, 10 May 2008

in hospital again

Raphael went in to have his pre-assessment on 8/5/2008 for his upcoming adenotonsillectomy but as he was getting quite sick we took him around to the PACU area to squeeze in to see a doctor to see what they thought about him. Shipping him back and forth between PACU and the pre-assessment area when doctors were ready to see him filled our day.

I felt a bit guilty about turning up to the packed clinic times with people over flowing in the waiting area only to push in line to see the poor overworked registrar. When I told the registrar that I suspected that an x-ray will probably reveal a pneumonia she said "I think that you should really present to DEM (Eepartment of Emergency Medicine)". I responded with a cheeky "Yes but that will take us ages and you are supposed to make special exceptions for people like us (with complicated children)". She took pity and organised a queue jumping x-ray for us which of course revealed a pneumonia.

This wrecked his chances of having the adenotonsillectomy surgery any time soon and instead landed him in hospital for observation for a couple of days. He was discharged on 10/5/2008.

Wednesday, 7 May 2008

Everyday appointments

This last month has been very hectic with appointments every day. I have been going to a "magic with music" course to help with Raphael's speech amongst other appointments. I have not had time to have a good scratch and so that is why I have not blogged much lately.

Wednesday, 9 April 2008

Wife on leave

Annie and our daughter have gone to China for three weeks leaving me with the boys at home.

She left this morning and so far Raphael has already vomited in the car, just as I was turning onto the southern outlet (a kind of free-way). That was really annoying and it was the stinkiest vomit I have ever smelt him do.

I was tired after a morning and afternoon out with the boys and the last thing that I wanted to do was clean him and the car seat up after we got home but there was no-one else and so I had to do it.

Tuesday, 8 April 2008

A couple of learning to talk classes

We have been recently attending a couple of courses to learn to help Raphael learn to talk.

It takes two to talk and Magic with music. They are both courses developed by Hanen.

I personally find the material dull and repetitive but I recognise the importance in the information that they provide and I can see how it is helping Raphael learn to talk.

Monday, 7 April 2008

Australian hearing and signing playgroup

Another Australian Hearing appointment today confirmed that the grommets are no longer in effect and it looks like he might have more fluid in his right ear. We will have to decide whether we want them to be reinserted during his next operation.

He performed as expected on his hearing tests and new moulds were taken to try to resolve the increasing problems that we are having from feedback (squealing).

It was a long appointment and we arrived at Raphael's new signing playgroup with only 15 minutes left. We had a brash introduction to the teachers there and I was a little disappointed that there was a lot of talking happening there. I was hoping that it might be a speech-free playgroup to encourage Auslan development for the children but there seemed to be more English than Auslan. Maybe all of the administrative work necessitated using a language that most people were fluent with and maybe the quantity of signing will increase next time.

Gross motor skills

Shortly after we found out that Raphael had a completely malformed vestibular (balance organ) and only monocular vision we were told that we could expect problems for Raphael being able to sit.

Then when he was sitting we were told that there would be real trouble for him to be able to pull to stand.

Now he walks!

He now happily chooses between walking unaided, crawling, and pushing a trolley. He is even trying to increase speed, although this usually ends up with a runaway effect followed by a crash that only a father could laugh at while the mother is not present. Turning is a tricky business and sometimes he has a very wide turning circle involving precariously placed footsteps with near toppling consequences, but he usually doesn't fall over during a turn though.

Thursday, 3 April 2008

Two year old Ocupational Therapy assessment

Raphael had an Occupational Therapy (OT) assessment today and passed with flying colours.

This gives us even more incentive to focus on his communication and gross motor skills which are lagging behind significantly.

Friday, 28 March 2008

Busy day with appointments

I had a hectic day yesterday, but here I will just talk about Raphael's appointments.

In the morning we had a consultation with a physiotherapist with lots of standing and walking practice. Handling uneven ground and very small steps is the next objective for him now. Also we will try throwing objects while standing up. I think we will be able to find a good game of throwing ping-pong balls at each other while standing.

He is confidently walking with a trolley that I hand customized for him. I added swivel wheels to the bottom of a normal child's walking trolley so that he can swing it around on the ground easily. I made it with some old bed wheels which were quite high and I was planning on going to buy some lower ones becuase initially I thought that it would be too unstable. But now looking at it, I am happy that it is not rock solid as it makes him practice his balance skills more and not just lean on the trolley all the time. He loves it and he seems to be walking with it all the time so I am happy that I spent the time on the modifications.

Later in the day we had an ENT appointment to book in his Adenotonsilectomy surgery for May when his normal ENT returns from being away. One of his grommets has probably extruded (fallen out) and is just sitting in his ear canal. Apparently it can take weeks for a grommet to travel down the canal in normal conditions but putting his hearing aids in all the time might be perpetually pushing it back up the canal and not permitting it to fall out by itself. When he is under anaesthetic for his surgery in May they will have a thorough look and see if they can just be taken away they will also look for any more sign of "glue" in his middle ears.

We also had a meeting with a home care nurse about his CPAP mask. It is starting to get too small and it is tricky to get on him at night without obscuring his nostrils. We had tried a larger one but it gave him a big blister on his cheek. We will try taping up his face with soft tape and giving the new mask another go tonight but I am not confident in succeeding with this.

We were also planning to see one of his intensivists but she was stuck in an emergency case so we abandoned that plan and will proceed without the consult until we exhaust our current CPAP ideas.

Tuesday, 18 March 2008

Two years old today

Raphael has made it to two years old. Good-on-ya little buddy! After a near disaster only a few days ago, we are proud that he has made it this far.

His fine motor skills are excellent, but his walking is still designed around crashing and he still uses crawling for his main method of transportation.

He is currently on antibiotics because of his inflamed tonsils and this last year seems to have had more than its fair share of hospitalisations.

His communication is disappointing but we are persisting with communication training courses and Auslan. Thankfully, just recently he has started using some more signs.

We now count 11 signs that we are sure that he is using and a further 4 that he might be using:
  • finished
  • more
  • nappy
  • ready
  • go
  • hello/goodbye
  • bib
  • hearing aid
  • time (bed time)
  • yummy
  • safety belt
  • turn around
  • car
  • pack up
  • listen
His vision seems to be stable. He can see most things except if they come from his left and he still short grabs some times.

We have been patching his right eye to try to get as much vision as we can out of his left eye before the window of oportunity passes. He is not keen on having his right eye patched and sometimes hides his face when we tell him that we are going to patch him. But he doesn't complain about it any more and goes about his business as usual while patched. He even tries to walk sometimes, while patched, but he is much less competent this way. I like to think that his left eye's vision is improving but we won't know until we do further vision tests. He is extremely happy when we take his eye patch off.

Thursday, 13 March 2008

FACSIA Carer Payment review and stories

Some time ago I filled in a survey on the Carer Payment and was invited to share Raphael's story in a publication to be submitted with the recommendations of the review to the minister.

The recommendations and stories are now publicly available at: http://www.facsia.gov.au/internet/facsinternet.nsf/disabilities/carers-review_carer.htm called the "Carer's Storybook". Raphael has changed a little since then but it is still an interesting read.

Paediatrician and paediatric intensivist

Raphael weighed in at 10.97kg today. This is a good result! His head circumference is big but he is still very short.

He was a little sick and so the paed gave us a script for antibiotics. She reassured us that his vomit in CPAP two days ago doesn't appeared to have had any detrimental effect on him.

We also talked about our concern over Raphael's speech and she gave us some ideas on avenues we could go down to ultimately improve his communication.

After the consualtion we ran into one of Raphael's intensive care consultants and we had a brief chat about his mask getting to small for him. She kindly went and got a batch of masks that were around his size but there wasn't one that was going to fit him. She said that she would contact her interstate colleagues and see if there was anything that might fit Raphael. In the mean time she gave us a maks that we can attack with some scissors to try to get it to fit.

Wednesday, 12 March 2008

Vomit in CPAP

Raphael vomited into his CPAP mask last night and we were lucky to catch it and prevent him from drowning. A number of events conspired against us last night resulting in a near disaster.

Within 15 minutes of putting Raphael to sleep with his CPAP Raphael vomited into his nasal mask and his mouth filled up with vomit to. For some reason he did not sit up or roll over and instead just struggled with no source of air.

The Oximeter alarm went off when his blood oxygen level degraded below 85% but neither my wife nor I reacted to this alarm immediately. I heard the alarm but I was doing some business in the "little boys room" and I expected Annie to go to the alarm. Tonight however we had forgotten to turn on the baby monitor in our lounge room which we need to be able to hear the Oximeter alarm in the lounge room. Our current Oximeter is only monotone and is diffucult to hear in other parts of the house without the baby monitor to relay the alarm sound. In addition to this we get so many "false alarms" that I had become complacent and was happy to complete the task that I was attending to before going to see what was the matter. I was expecting that it was just Raphael having pulled off the Oximeter probe.

As soon as I entered the room though I realized that the problem was much more serious. The room was dark but there was two numbers glowing on the Oximeter his pulse rate and his Blood Oxigen saturation. The pulse rate was on the high end of normal but the other number burned into my eyeballs as 71. Going over to him I turned on the bedside lamp and saw his nasal mask which was full of vomit and his face covered with vomit. He was pulling at his nasal mask trying to take it off and his mouth was opening and closing trying to expel the pool of vomit that was in there.

Yelling out for my wife, I sat him up and ripped off his mask. He sat there for a moment without breathing and then coughed and vomited a lakes worth into the chuck cloth that I grabbed from his bed.

He recovered quickly and after a mop-up and a change of clothes and bedding he was was ready to go back to sleep. Sitting with him on our bed and recovering from the shock, he lent over and gave both of us a gentle stroke on the arm in turn (one of his ways of showing affection). This picked up our spirits immensely.

After we put him back down to sleep I turned the baby monitor on and then called the home care nursing team to let them know of the problem that we had just experienced. They checked with the registrar and were happy with what we had done. We have an appointment with our Paediatrician in two days and mentioned that any aspiration infections will probably start to show around that time so it is important to talk with the doctor then about the incident.

We were lucky that Raphael didn't drown last night.