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].

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.

Adenotonsilectomy

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.

Raphael is out of hospital again

Not much more to say.

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.

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:

• Raphael's eyes and vision
  
• Raphael's cranial nerves
  
• Raphael's heart
• Raphael's growth
• Raphael's development: physical and mental
  
• Raphael's ears, hearing and balance
  
• Raphael's other medical issues
  

Summary
Eyes:
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.
  

Heart:
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.

Growth:
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.

Development:
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.

Balance:
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.

Breathing:
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.

Talking:
[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.

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.
   

Summary:
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.

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
• is small (microphthalmic) and underdeveloped;
• 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.

Summary:
"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.

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.
   

Summary:
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.
   
• Gross motor development
• Language development
• Fine motor development
• Hearing
  
• Vision
• Intellectual 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).
   

Summary:
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:
http://en.wikipedia.org/wiki/Cranial_nerve
http://mywebpages.comcast.net/wnor/cranialnerves.htm
http://faculty.washington.edu/chudler/cranial.html


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.
  

Summary:

• 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.
  

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.

Mama

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.

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.

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.

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.

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.

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.

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.

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.

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
  

possible:

• 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.

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.

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.

Raphael's heart

The "H" in CHARGE - Heart

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

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

1. "Mildly dilated right atrium" (This was noted in the preliminary report and removed in the final echocardiograph 26/5/2006)
   
2. "Two small low velocity shunts (1.1-1.2 m/sec) across the inter-atrial septum, suggestive of ASD or PFO." (echocardiograph 26/5/2006). "There is a small L-R shunt across the inter-atrial septum, Vmax=1.3m/sec, suggestive of small ASD" ... "ASD/PFO" (echocardiograph 24/11/2006).
   
3. "There is a left sided aortic arch. There is no evidence of a double arch." (MRI 18/12/2006)
4. There is, however, an aberrant right subclavian artery." (MRI 18/12/2006)

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

1. Given that this finding was removed in the final report I assume that this dilation was so mild as not to be worth commenting on.
2. An ASD (Atrial Septal Defect) is a type of defect that is commonly referred to as "a hole in the heart". It has been commented that this may in fact be a PFO (Patent Foramen Ovale), rather than an ASD, which is a common finding which may rectify itself with in the first few years of life.
3. The left sided aortic arch is a blood vessel that pushes on the oesophagus slightly. Fortunately this is not repeated on the other side as well.
   
4. An aberrant right subclavian artery is just a rare configuration in the rout of the right subclavian artery.
   

The Implications of These Conditions

1. No implication unless it is actually dilated
   
2. This reports that Raphael has a small ASD/PFO that seems to have no practical consequences.
3. I wonder whether the pressure on his oesophagus is partially responsible for his swallowing problems. A double arch could result in a ring around his oesophagus and trachea, choking him and preventing swallowing, but he does not have this.
4. There are no practical implications of having an aberrant subclavian artery. It is only relevant to make sure that medial professionals are aware of the condition when procedures are being carried out in the area.
   

Summary:
Raphael does not have any significant heart problems. The minor issues only seem to be relevant to anaesthetists and medical emergencies.

Another new sign: "nappy"

Raphael as started to sign nappy. He is very clear and he knows what it means but I don't think that he has put together the sensation of having a dirty nappy ad needing to have his nappy changed.

For instance If I tell him that it is bed time then he might sign "time" or "hearing aid" or "nappy" all things that we attend to at bed time. But he hasn't signed nappy due to having soiled it.

Finally signing "more"

Our first two earnest efforts to get Raphael to sign was with the signs "all done" and "more".

As Raphael always seemed to be "all done" when it came to eating he leared that one very early on. It was his first sign. And so we eagerly kept pushing for him to learn "more" but time dragged on and it didn't look like he was every going to say or sign more.

But all of a sudden here it is "more", spoken poorly, but signed nicely. He has been doing it for a few days now and it is very clear.

Ophthalmologist

We had a quick Ophthalmologist appointment today.

While waiting for the appointment we noticed some people signing in the waiting room and when I saw one of them comment of Raphael's hearing aids I introduced myself and took the opportunity to practice some Auslan on them.

There is nothing new to really comment on from the appointment except that the Doctor offered to examine the articles that I had found with regards to the benefits of occlusion (patching) with a severely malformed eye. I am looking forward to his reply to my email that I sent to him with the articles.

Intensivist consultation

We had an intensivist consultation today straight after discharge to talk about CPAP settings, adenotonsilectomy and future possible sleep study.

Finally out of hospital

Yay, finally out of hospital today with oral antibiotics and an iron supliment. Apparently he has low iron.

Admitted to hospital with pneumonia

Yesterday Raphael didn't eat anything and didn't drink much all day and vomited what he drank. He hasn't been eating anything for a week now and he has been drinking less and less of his formula each day so yesterday when he had practically nothing I thought I should call the paediatric ward and ask them what I should be looking for with dehydration. The head nurse went to ask the registrar and came back with the asnwer "bring him in to DEM (Department of Emergency Medicine) so that the registrar can have a look at him". I wasn't very happy about this, but when I pushed for my original question to be answered the nurse did not respond well so I brought Raphael into Emergency in the hospital.

On arrival to DEM we noticed that it was quite busy. There was a person waiting in front of us with a bucket. She was obviously very unwell and just in case she was contagious, I moved Raphael's pram around to face the other way away from her. At that moment another guy came into emergency, also carrying a bucket. I shuffled Raphael's pram away from him too but became quite sandwiched between these two sick people. After going through the triage desk I was asked to sit in the priority seats but one look at them saw little space between even more people I was beginning to think that I had taken Raphael into hospital just so he could catch another vomiting disease. I sat a short distance away from "vomit row" and sadistically amused myself by noticing that when one of the poor soles vomited others joined in the chorus.

After only 1.5 hours we saw the registrar and his examination showed that Raphael was only mildly dehydrated and he could go home and stay home if his intake improved tomorrow. Before we left though he wanted Raphael to have an x-ray just to make sure that Raphael didn't have a pneumonia. Well and you know the result of this already... he had pneumonia.

Raphael stayed in last night and he was a little better today, they suspect viral pneumonia but are giving him oral antibiotics as a "just in case" measure. He will probably be in for a few days so they can monitor his condition.

Not happy about language development

Raphael has been very slow with his language development lately and his new speech pathologist was very unhappy about him only having only about six signs and fewer spoken words.

We are working on doubling his vocabulary by selecting a number of new nouns that are important to him and encouraging/forcing him to sign them before acting on what he wants.

He has made up a new sign where he taps the back of his hand with his index finger. He is starting to use it quite a lot while looking expectantly to us, but Annie and I have yet to work out what it is supposed to mean. I am not sure if he knows what it means either so I think that we'll just force a translate of "shoe" and give him his shoes along with the correct sign whenever he signs his version.

Sick again

We called a home care nurse out today because Raphael has a bad cough and sure enough later in the day when the nurse arrives his temperature had risen.

Fortunately his breathing is still ok so we wont need to goto hospital... yet...

Walking, wow!

Home care nurse project review

Today we attended a meeting to talk with the hospital about the home care nursing. This was an important meeting with a few families and hospital staff involved with the home care nursing team. The goal was to gather information to achieve a permanent home care nursing programme for high needs children.

Injection and bloods at PACU

Raphael was subjected to some needles this morning involving an intramuscular testosterone injection and taking 12ml of blood for tests (thyroid, haemachromatosis, and CHD7 genetic test).

I am sure that they had previously taken blood for CHD7 genetic testing and I was surprised to see that it had been added to the list of things that blood was being taken for. But when I grilled them about this the kind nursing staff checked the records and could find not find any blood being kept for Raphael's genetic testing so it would have to be done anyway.

He has previously been very difficult to get blood from and I don't think that the registrar who came in to do the job had successfully taken blood from Raphael before. However, this was the most successful time ever and Raphael didn't even vomit when he was distressed about what was being done to him.

Head nodding and shaking

Raphael has begun to nod and shake his head when indicating yes and no to us. You have to have a sharp eye to notice that he does it because it is over so quickly, but we are now convinced that he is using it as part of his everyday language.

ENT

Our long ENT consultation to day focused on the Adenotonsilectomy and timing for the surgery given that our ENT will be away for a while shortly. We also discussed his hearing loss and further tests.

New signing skills

Raphael has just signed some two sign sentences:
"This", "there" (put this in there)
"that", "head" (put that on my head)
"finished", "there" (I am all done, put this pencil away)

Paediatrician

A one hour consultation involved discussing Raphael's letters, that we have received from the doctors in Sydney. We also talked about his most recent ear infection and more about the possibility of surgery to have his tonsils and adenoids removed.

First optometrist visit

We saw an optometrist for Raphael the first time today. He spent a bit of time examining the behaviour of Raphael's left eye. We were very happy with the large amount of time that he gave to us but, after careful examination, his summary was the same as what all the other eye professionals have been telling us.

There is little very little research on the benefits of eye patching to improve the vision of an eye with extensive physical defects. Simply there is no chance for the left eye to be visually active while his right eye is so useful to him.

The only benefit that could be achieved in improving the vision in his left eye is that, in the unlikely event of him losing his sight in his right eye, his left eye will at least have the best vision possible.

New communication skills

Raphael has a new sign "here". He uses it to indicate where you should put the thing that is the current focus of his attention.

He also has a new word that is nearly understandable: "helo", he says "aaaaoooo".

Questions people keep asking us (or should ask us)

I will slowly modify and add to this over time

Name: Raphael Shalom Bartlett
Birth date: 18/3/2006
Handedness: Right ( I think)

Chief Problem: CHARGE syndrome

Mother and Father: Paul and Annie Bartlett

home phone: ___________________

mobile: ___________________

Important:
before performing any test or invasive procedure on Raphael (including suctioning) try to call me on my home number and work number. We find that Raphael is often given incorrect types of tests because of his complicated situation.

Don't suction Raphael, just wipe his nose. If the secretions are causing him discomfort then just use the suction hub (don't poke the tube up his nose or in his mouth, as this will cause him unnecessary distress).

Allergies:
No known allergies but:

• Codeine is a candidate as a cause for a particularly bad oxygen desaturation while sleeping in hospital once.
• Raphael is at high risk of aspiration (and aspiration pneumonia) because of his swallowing dysfunction and reflux/vomiting. Do not feed Raphael foods that cause him to vomit (see "Feeding" below)

Sleeping:
Raphael has twosleeps of a day:

1. Afternoon sleep from about 14:00 to 16:00
2. Night sleep from about 20:00 to 06:00 with CPAP
   

Raphael sleeps without a pillow. His airway is less obstructive if he sleeps on his side but he may roll onto either side and/or his back during his sleep. Raphael is used to falling asleep by himself and will do so by himself at his sleeping times unless there is too much stimulation. Before his sleep time, remove his hearing aids and it is generally a good idea to drape sheets over the side of his cot (if in hospital) until he is asleep so that he does not get distracted by the other activity in his room. With the exception of his night time sleep, if he is woken up then it is unlikely that he will go back top sleep.

It is important that he gets these sleeps as they interact with his feeding schedule (see below).

Feeding:
Raphael has been diagnosed with failure to thrive (FTT). He does not voluntarily take enough food to sustain his growth and he is prone to vomiting if he eats too much or the wrong types of foods. For this reason it is important to stick as close to the feeding schedule as possible.

He has two types of feeds:

1. Puréed/smooth solids with fortification (eg Paediasure)
2. Milk (Nutrini high-energy multi-fibre) by straw cup
   

Puréed solids
Raphael can only successfully swallow fluids and highly puréed foods. Other foods will collect at the back of his throat and cause him to cough and vomit. Raphael can manage smooth yoghurt, custard, fruit purée, and puréed sweet potato. Mashed potato is too lumpy and will guarantee a vomit. blend in one scoop of Paediasure for each 40g of purée that you feed to him for fortification.

If Raphael starts to cough then it is possible that he is about to vomit. Always be prepared with a decent sized cloth nearby to catch it.

When Raphael has eaten enough he might sign "finished" by twisting his fists slightly. He may even vocalise "A'da" (all done) as well and refuse food by turning away or pushing the food away.

When Raphael is sick he is less likely to want to eat puréed foods and usually prefers Nutrini.

Milk (Nutrini) by straw cup
Raphael drinks milk throughout the day as he wants it but we offer it to him specifically in the morning, at lunch time and in the evening. He could drink anything from nothing to 200ml depending on his mood.

For the milk feed, allow Raphael to sit up and hold the cup himself. He would like to be able to put the cup on a flat surface that he can reach to drink again at a later time.


CPAP:
Raphael sleeps at night with his CPAP machine to reduce his sleep apnoea. Normally his setting is 8.0 but when he is sick the intensivists usually order this to be raised to 9.0 to improve his blood oxygen saturations.

Our CPAP routine is:

1. Attach oxygen saturation probe.
2. fit CPAP mask. Note that the top three straps should be left alone as they don't need to be adjusted and if they are then it makes it harder to fit later.
3. Turn on CPAP.
   
4. When removing the CPAP mask, turn off the airflow and then disconnect both lower straps. Leave the top three straps alone.
   

Blood Oxygen Monitoring:

• Raphael's normal awake blood oxygen saturation is usually between 95%-99%.
• When deep sleeping he can desaturate down to 75% and his airway obstructs often. Raphael's obstructions appear to be worse when sleeping on his back and/or if his head is tilted forward.
  
• When sleeping with CPAP his saturations are usually between 97%-100%, sometimes as low as 95%
  
• When Raphael is sick his saturation fluctuates between 85%-93% while he is awake. while he is asleep this can be worse.
• When sick and on CPAP his saturations have been measured at around 91%. Adding a small amount of oxygen to the flow (even as low as two litres/minute) can bring his saturations back up to 95%.
  

Comforting:
If we (the parents) are not on the ward then we will not be far away. Common causes for when he is grumpy:

• Been held for too long
  
• Nappy needs changing
• Tired
• High temperature
• Wants something he can't reach
• Wants to go down (he may be pointing to the ground if you can find his hand)
  

Raphael might throw mini tantrums if he does not get something that he wants and is indicating so (by pointing). Distraction may work but this is getting harder as he becomes more stubborn.

Raphael loves to crawl around and always enjoys exploring the playroom.

We recognise that in hospital television is a useful tool to distract children from their problems and it is possible to distract Raphael with television but keep in mind that his moderate to severe hearing loss and left eye blindness can reduce his interest. The following are some tips to overcome this:

• Fit his hearing aids.
• Make sure he is sitting squarely towards the visual stimulation.
• Do not amplify the sound to a level that you think is too loud for yourself; this may distort the sound that Raphael hears.
• Even Raphael's good eye (right eye) has a problem that makes it difficult for him to see objects higher than eye level. It would be better if the visual stimulation was provided at his eye level rather than requiring him to look up to see it.
  

Communication:
Raphael has a moderate to severe hearing loss in both ears which is manageable with hearing aids. With or without hearing aids Raphael understands and uses some sign language. Useful signs that he uses include:

• "bed time"
• "drink"
• "hungry" and "eat"
• "Medicine"
  
• "Finished"
• "More"
  
• "Tissue"
• "Bib"
• "Shoes"
  

Raphael is effectively blind in his left eye and his right eye may have a reduced upper field of vision. Engage him front on and at his eye level to get his attention.

Daily Routine:

• ~6:00-7:00: Raphael wakes up. We disconnect his CPAP when he wakes.
  
• ~8:30: Offer fortified puréed fruit in a bowl with a spoon and Nutrini Energy Multi Fibre (in a straw cup)
• ~10:30: Maybe hungry again, offer left over purified fruit or fortified custard.
  
• ~12:00: Offer fortified yoghurt in a bowl with a spoon with Nutrini Energy Multi Fibre (in a straw cup)
• ~14:00-15:00: afternoon sleep (sleeps for 1-2 hours)
• ~16:00-17:00: Offer puréed pumpkin in a bowl with a spoon and Nutrini Energy Multi Fibre (in a straw cup)
• ~20:00: Night time sleep
• Offer Nutrini Energy Multi Fibre (in a straw cup)
• Brush teeth
  
• Connect CPAP mask and then turn it on (8.0 normally but sometimes raised to 9.0 when he is sick). Raphael usually falls asleep within a few seconds of the CPAP turning on)
  

Bathing:
We normally bath Raphael once per week on a Saturday. You can bath him more if you want (eg in case of a huge vomit)

Previous Hospitalisations:

• 20/11/2008-21/11/2008: Sleep study in Monash
  
• 3/7/2008-6/7/2008: adenotonsilectomy
  
• 16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
  
• 8/5/2008-10/5/2008: admitted to hospital for pneumonia.
• 11/2/2008-13/2/2008: admitted to hospital for pneumonia.
  
• 12/10/2007-13/10/2007: admitted to hospital because of upper respiratory infection and swolen tonsils. Constant observations because of possible risk of tonsils closing airway while sleeping.
  
• 22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
• 1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
• 4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
• 17/4/2007-19/4/2007: CT scan, grommet insertions, ABR test and eye pressure test under general anaesthetic. Good result from anaesthesia. This hospital stay noted the Codeine incident (see Allergies above).
• 25/3/2007-27/3/2007: hospitalised for two night sleep study. Study showed frequent and severe blood oxygen desaturations.
• 21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
• 28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
• 18/12/2006-19/12/2006: admitted to day surgery for MRI scan. Reacted poorly to anaesthetic and hospitalised for one night.
• 4/12/2006-8/12/2006: hospitalised for NGT placement and training.
• 18/3/2006: Born in Calvary hospital. Normal full term delivery.

Immunisations:
Up-to-date (as of 11/2/2008).
(he has had his 18 month old vaccinations).

Drugs Previously Taken:

• temp list:
• Ciprofloxacin (ear drops) - antibiotic for middle ear infection (first taken 31/1/2008)
  
• Prednisolone (oraly) - anti-inflamitory? (used to reduce the swelling of Raphael's tonsins)
• Demazin (oraly) - cough management
• Paracetamol (oraly) - pain relief
• Ibuprofin (oraly) - pain relief
• *Codine (iv[?]) - pain releife (*see allergies section)
• Amoxicillin (oraly intramuscular[?] and iv[?]) - antibiotic
• Ceftriaxone (iv) - antibiotic
• Clamohexal Duo (oraly) - antibiotic
  
• Sofradex (ear drops) - antibiotic
  
• local anaesthetic applied along with intramuscular antibiotic
• Drying medication for general anaesthetic
• General anaesthetic and associated drugs