Chronology of events that doctors are usually interested in

When we see new consultants (which seems to happen frequently) they like to get a full medical history. This takes ages and we usually forget when things happened so I am compiling this list to help me with this.

colour legend:

• general notes
  
• doctor visits
  
• medical test results
  
• early intervention / therapy
  
• noted development milestones
• General hospitalisation
  
• Surgery

Raphael's timeline:

• 18/3/2006 - Raphael Bartlett born at term (on due date).
• birth weight 4.055kg.
• Initial anomalies noted: wonky ear, facial palsy, slightly low set ears.
• Gurgley breathing.
  
• Failed to reach birth weight by the time he left hospital (3.78kg).
  
• 11/5/2006 - first doctor appointments concerning weight gain (paediatrician and ENT).
  
• ENT noted laryngomalacia and mucus pooling at the back of his throat.
• 11/5/2006 first doctor appointments concerning weight gain (paediatrician and ENT).
• 11/5/2006 - first barium swallow showed significant aspiration and oesophageal reflux and that his oesophagus may be being slightly squeezed by an artery.
• 26/5/2006 - first echo cardiograph reported as showing a small ASD (Atrial Septal Defect) but other cardiologists since have also referred to it as a PFO (Patent Foramen Ovale).
• May - December 2006 - various attempts tried for oral feeding including:
• Using herbs to stimulate milk production.
• Expressing milk and adding HMF (Human Milk Fortifier).
• Using formula at a controlled increased concentration.
• Finally tried using Infantrini (high energy premixed formula).
• Higher intake was achieved but Raphael started vomiting large amounts undoing all the good work that we were doing.
  
• 31/5/2006 - started osteopathy for Raphael's facial palsy.
• September 2006 - first opthalmologist visit. He noted major left eye probelms rendering it practically useless and also commented on monir right eye problems.
  
• 1/9/2006 - Raphael rolled over for the first time (all the way).
  
• 19/9/2006 - Raphael takes solids for first time. Paediasure (complete feed supplement) added to fortify. Consumption of only liquids and pureed foods continue to 1/11/2008 but still remain the staple to date (6/1/2009).
  
• 24/10/2006 - first audiologist appointment reveals some hearing loss. Further test requirted to determine extent.
  
• 30/10/2006 - started Early intervention at Early Learning Tasmania.
  
• 10/11/2006 - Hearing test (ABR) revealed 40db loss in left ear and 50db loss in right ear
  
• 24/11/2006 - another echo cardiograph still shows the hole in his atrial septum.
  
• 28/11/2006 - another type of barium swallow done and no fistula was found between the oesophagus and trachea.
  
• 8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube) inserted in hospital which will be used to supplement his daytime oral feeding with overnight. This proved to be extremely effective.
  
• 18/12/2006 - MRI performed on head and upper chest. Cranail nerve anomalies were noted allong with a hypoplastic vestibular system rendering it useless. Reacted poorly to anaesthetic and hospitalised for one night (post intubation stridor).
• 20/12/2006 - consulted with geneticist who was still unsure what condition Raphael was experiencing. He suggested that some parts of Raphael's symptoms was similar to CHARGE syndrome but he did not beleive that is what Raphael had partly due to the asymitry of Raphael's problems.
  
• 11/1/2007 - Ophalmologist noted high right eye pressure, but still within normal limits
• 12/1/2007 - Geneticist now states that Raphael has CHARGE Syndrome
  
• 15/1/2007 - CT scan performed but movement has reduced its resolution significantly only showing fluid filled middle ear cavity.
  
• 1/2/2007 - Started learning and teaching Auslan to Raphael as language seems to be delayed.
  
• 13/2/2007 - Started to crawl backwards.
  
• 17/2/2007 - Raphael has started sitting unaided.
  
• 22/2/2007 - Started commando crawling.
• 23/2/2007 - Renal ultrasound showed no anomalies.
  
• 28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
• 5/3/2007 - Used first Auslan sign (hello).
  
• 11/3/2007 - used pincer grip.
  
• 15/3/2007 - kneeling for first time.
  
• 21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
• 26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
• 27/3/2007 - Crawling on hands and knees (classical crawl) for first time.
  
• 4/4/2007 - signing finished (appropriate usage of the sign).
• 4/4/2007 - moves from crawling to sitting comfortably.
  
• 18/4/2007 - General anaesthetic incorporating a number of procedures:
  
• CT scan gives no additional information apart from a possible cholestatoma in middle ear. ENT comments that this cannot be seen clinically and therefore it is probably just fluid buildup.
  
• Grommet insertion surgery.
• ABR test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
• eye pressure test shows normal pressure.
  
• 24/4/2007 - Hearing aids fitted for first time.
  
• 4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
• 9/5/2007 - commenced CPAP with intensivist in hospital.
  
• 1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
• 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.
• 27/6/2007 - Cruised for first time (walking while holding onto a surface).
  
• 9/7/2007 - stopped NGT feeds for oral feeding trial (never went back to tube feeding). He was scheduled to have Fundoplication and Gastrostomy but he was sick when it was supposed to happen and the this successful oral feeding trial has made it unneccessary.
  
• 8/8/2007 - Parasomnias noticed. Started out with sleep sitting but went on to sleep standing and night-terrors. These eventually subsided by the middle of 2008 and appear to have completely gone by 2009.
  
• 21/8/2007 - Barium swallow video fluoroscopy test. Showed aspiration of thin fluids (such as milk) but no sign of reflux during the study (he vomited afterwards though).
  
• 15/9/2007 - makes the following sounds: "dya-dya-dya", "adaadaadaadaa", "aiyaiyaiya", "mama", "ba". this is notbale becuase he doesn't make any new sounds for over a year from here.
  
• 27/9/2007 - commenced occlusion thereapy by patching Raphael's right eye to try to stimulate the development of his left eye vision. We kind of talked the ophalmologist into giving us patching advice, he did not think that patcihng will help.
  
• 12/10/2007-13/10/2007: admitted to hospital because of very large tonsil airway obstruction concerns.
  
• 1/11/2007 - Second oppinions sought in Sydney from education specialists, therapists, paediatrician, ENT, opthalmologist, cardiologist, thorasic surgeon (sleep specialist). Only new recommendation is to have adenoids and tonsils removed.
  
• 30/1/2008 - taking first unaided walking steps.
  
• 11/2/2008-13/2/2008: brought into hospital because of concern about possible dehydration; admitted to hospital with pneumonia.
  
• 28/2/2008 - signs about 5 signs.
  
• 12/3/2008 - Nearly suffocated to death on vomit in CPAP.
  
• 28/3/2008 - confident walking with trolley.
• 7/4/2008 - walks confidently.
• 8/5/2008-10/5/2008: admitted to hospital with pneumonia, suspected viral, temperature peaked over 40.
  
• 16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
• 4/7/2008 - adenotonsilectomy performed in the hope that it would improve breathing at night.
  
• 31/7/2008 - ophalmologist acknowledges that patching has improved raphael's left eye and it now provides peripheral vision.
  
• 4/10/2008 - Australasian CHARGE Syndrome conference in Christchurch, New Zealand.
• 20/11/2008 - Sleep study in Monash showed that CPAP level should be set to 5.0.
• 13/12/2008 - eats chocolate cake without choking
• 15/1/2009 - third echo cardiograph still shows the hole in his atrial septum.
• 1/1/2009 - started to use two sign phrases (not just two gestures)
  
• 16/1/2009 - eats bread without choking
• 18/1/2009 - eats toast and a fresh apricot without choking
• 8/4/2009 - Jumped for the first time (both feet off the ground)
  
• 9/4/2009 - eats just about anything except fibrous meat and crunchy foods (like apple)
• 27/3/2009 - Renal ultrasound shows no issues
• 10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
• 29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
• 22/5/2009 - started at ABC learning childcare 1 day per week for socialisation
• 8/2/2010 - now able to make k sound can make dy sound sometimes
• 4/6/2010 - can make an s sound in specific circumstance "is"
• 13/8/2010 - made a "sh" sound for the first time but is unreliable in reproduction
• 13/8/2010 - started 2 half days at local kindergarten as a prekinder type of experience
• 1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
• 13/9/2010 - Renal ultrasound shows now issues
• 29/9/2010 - eats everything but occasionally has a bit of a cough

Summary of chronology summary

As my wife bluntly pointed out to me, the last timeline summary is very difficult to pick out individual items. Thankfully she created this summary summary. Indeed this is much better for the job.

• 28/11/2006 - barium swallow (2).
• 8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube).
• 18/12/2006 - General anaesthetic (1) - MRI (1) performed on head and upper chest.
• 12/1/2007 - Geneticist states that Raphael has CHARGE Syndrome.
• 15/1/2007 - CT scan (1).
• 23/2/2007 - Renal ultrasound (1).
• 26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
• 18/4/2007 - General anaesthetic (2) incorporating a number of procedures:
• CT scan (2).
• Grommet insertion surgery.
• ABR (2) test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
• 24/4/2007 - Hearing aids fitted for first time.
• 9/5/2007 - commenced CPAP with intensivist in hospital.
• 9/7/2007 - stopped NGT feeds for oral feeding trial.
• 8/8/2007 - Parasomnias noticed.
• 21/8/2007 - Barium swallow (3) video fluoroscopy test.
• 27/9/2007 - commenced patching Raphael's right eye.
• 4/7/2008 - General anaesthetic (3) adenotonsilectomy performed.
• 20/11/2008 - Sleep study in Melbourne Childrens Sleep Unit Monash Hospital.
• 15/1/2009 – echo (3)
• 27/3/2009 - Renal ultrasound shows no issues
• 10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
• 29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
• 1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
• 13/9/2010 - Renal ultrasound shows now issues

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 necessary.

Raphael has a very sensitive Gag reflex, touching the top of his tongue with a tongue depressor is usually enough to trigger a vomit.

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. Close observation is necessary while Raphael is drinking and eating.

Sleeping:
Raphael has two sleeps of a day:

1. Afternoon sleep from about 14:00 to 16:00
2. Night sleep from about 19:30 to 07:00 with CPAP
   

Raphael's 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 turn off) 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. If he is woken up during his afternoon sleep then it is unlikely that he will go back to sleep.

Feeding:
Raphael is transitioning from fortified foods to family meals.

Currently he has a number of sources of nutritian intake:

1. Milk (Nutrini high-energy multi-fibre) by straw cup
2. Slice of bread spread with "paediasure butter" (three scoops of paediasure mixed with small amount of water to make a spreadable texture).
3. Sustagen Icecreams (Sustagen made up to a thick consistency and then frozen on a paddlepop stick to make an icecream).
4. Offered family foods at meal times. He still has occasional trouble with fibrous meat (eg beef/pork) and crunchy foods (eg raw apple) so it is neccessary to observe him while he is eating these things.
   

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 foods and usually prefers Nutrini.

Milk (Nutrini) by straw cup
Raphael drinks milk throughout the day as he wants. He could drink anything from nothing to 400ml 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 at 5.0.

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%-100%.
• 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:

• Nappy needs changing
• Tired
• High temperature
• Frustrated about being unable to do something
• Wants something but is not getting it. Common wants include drink (Nutrini), bread, TV, or whatever he is pointing at.
  

Raphael might throw mini tantrums if he does not get something that he wants. If he can't have it tell him no. We don't mind if he chucks a temper tantrum.

Raphael loves to walk around and always enjoys exploring the playroom. Cars, aeroplanes, books and puzzles are usually winning toys.

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 and turn them on.
  
• 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 Nutrini Energy Multi Fibre (in a straw cup) and bread spread with "Paediasure butter" (see above). He may also want a tiny amount of cereal with milk.
  
• ~10:30: Maybe hungry again, offer left overs from breakfast.
• ~12:00: Offer whatever is going for lunch. He is usually fond of bread, so you can't go wrong with that.
• ~14:00-16:00: afternoon sleep (sleeps for 1-2 hours)
• ~16:00: Offer Nutrini Energy Multi Fibre (in a straw cup)
• ~17:00: Offer whatever is going for dinner.
  
• ~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 9/4/2009).
(this includes an influenza vaccination for 2009 winter).

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 tonsils)
• 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
  

Raphael's current issues and actions

Bad left eye vision

• Patching 30 minutes to 1 hour about three days per week. We have been letting this slip lately and it has been more like once a week.
  

Poor hearing

• Bilateral Hearing aids during all waking hours.
  
• hearing tests every three to six months.
• regular ENT appointments every three to six months.
  

Poor speech

• Bilateral Hearing aids on during all waking hours.
• Speech pathology appointments every three weeks.
• teacher of the deaf appointment once a week.
• learning to listen playgroup once a week.
• RIDBC video conference once a week.
• learning to sign Auslan by:
• Attending signing playgroup once per week.
• studying ipod signing teaching system borrowed from RIDBC.
• In February we are organising a deaf person to come to our house for maybe an hour a week to enhance our Auslan skills.
• using http://www.auslan.org.au/.
  

Facial palsy

• we have tried osteopathy and acupuncture point massage but neither of these has made any difference.
• Currently we are not doing anything to overcome this.
  

Antisocial behaviour

• Now that we have the vomiting and aspiration under control most of the time we are starting to put firm boundaries in place for Raphael. He is no longer in charge of everything.
  

Poor swallow, aspirating fluids and choking on lumpy foods

• Main food is pureed fruit, custard, yoghurt, and pureed pumpkin
• gradually trying to give Raphael different textures, so far he can eat soft crumbly cake in small amounts.
  

Slowly developing gross motor skills

• Early intervention playgroup once per week.
• Auslan playgroup once per week.
• Added a double rail to our front steps so that Raphael can hold it while climbing and descending the steps.
• Lots of trips to the local park and playground equipment.
  

Sleep Apnoea

• Sleep testing about once a year
• CPAP while he sleeps overnight with an oximiter.
  

Heart defect

• Echo cardiographs occasionally to ensure stability.
• No current action.
  

Funny looking right ear

• Nothing.
• It would have been possible to mould his ear within the first few weeks of life without surgery, but unfortunatelly we did not know about the ways of doing this then.

Aspirations

• It has been recommended that thickening fluids that he drinks would be a good idea to reduce the chance of aspirating fluids.
• We are ignoring this as it is just too much trouble along with everything else we have to do.
  

Vomiting

• When he has periods of vomiting we limit his fluid intake and feed him10ml of water at a time every 10 minutes to try to keep his fluids up.
• We have to make sure that there are no drinks sitting around for him to find or he will guzzle them and then vomit.

Cognitive skills

• Formally testing him yearly to make sure that we are addressing any shortcomings.
• Attending early intervention once a week.
  

Known medical status (general executive summary for medical professionals)

Eyes:
Right eye:

• essentially normal
• small inferior coloboma
• vision seems to be normal for age from this eye
  

Left eye:

• microphthalmic
• extensive posterior polar coloboma
  
• posterior staphyloma
• excavated morning glory type disc
• all professionals say no useful vision from this eye but recent patching (27/9/2007) shows that he can distinguish objects at least as small as peas. 1/6/2008 he can walk with his right eye patched. 31/7/2008 vision improved in left eye, receives peripheral vision from left eye even with no occlusion of right eye.
  

Cranial Nerves:

• left facial palsy
• left optic nerve hypoplasia
• vestibulocochlea nerve malformations
• Uncoordinated swallow resulting in frequent aspirations (he has a good clearing cough though)
  

Heart:

• Small ASD (has also been described as a patent foramen ovale by different cardiologist)
• Aberrant right subclavian artery
  

Growth and development:

• fed by NGT from 4/12/2006 till 9/7/2007 because he would not put on weight fast enough.
  
• development slightly delayed, receives early intervention
• Poor swallow also means that he is unable to swallow anything lumpier than a purée without coughing and gagging. January 2009, has started to cope with bread and soft fruits. Currently main nutrition comes from Nutrini and purées (fortified with Paediasure).
  

Ears:

• Bilateral vestibular malformations; "only 1 hypoplastic semi-circular canal is identified". Walking is preferred mode of travel at 26 months.
  
• Bilateral grommets inserted to deal with chronic ear infection. These extruded around May 2008.
  
• Bilateral hearing aids to address hearing loss
  

Right ear:

• characteristic CHARGE external right ear
• moderate (60db) hearing loss in right ear
  

Left ear:

• severe (90db-100db) hearing loss
• vestibulocochlea nerve malformations

Airway:

• experiences frequent obstructive sleep apnoea has CPAP when sleeping to overcome this (pressure: 8-9). September 2008, post adenotonsilectomy, reduced CPAP to pressure 4.0. November 2008 sleep study in Monash recommends CPAP to be set to 5.0.
  
• aspirations are common while drinking ("significant gastro-oesophageal reflux" and "excessive pharyngeal milk and secretion residue")
• His laryngomalacia has not been noted for some time now. Laryngomalacia noted during adenotonsilectomy 4/7/2008.
  
• Mucus and food that he has recently eaten frequently runs from his nose.
  

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 with pneumonia, suspected viral, temperature peaked over 40.
  
• 11/2/2008-13/2/2008: brought into hospital because of concern about possible dehydration; admitted to hospital with pneumonia.
  
• 12/10/2007-13/10/2007: admitted to hospital because of very large tonsil airway obstruction concerns.
  
• 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.
  
• 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 (post intubation stridor).
• 4/12/2006-8/12/2006: hospitalised for NGT placement and training.
• 18/3/2006: Born in Calvary hospital. Normal full term delivery.

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.
  

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.
  

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.

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.