Quick visit from a new home care nurse

We had a quick visit from one of the new home care nurses just to check up on Raphael. It was nice to meet someone from the new team.

High temperature, vomiting and a little surprise

Last night at 10:30 Raphael became extremely restless while sleeping and it turned out he had a fever (39 degrees).

we gave him some panadol and he was so thirsty that we gave him some hydralite but after only 15ml of the hydralite he vomited everything up. We wanted to give him another dose of panadol because he had ejected it all but we weren't sure if it was safe, we didn't want to overdose him on paracetamol.

To find out if it is ok to give another dose if the first one is vomited out we called the new home care nursing team but we knew that they closed well before 10:30 and so we weren't surprised when there was no answer. We then called the 24 hour doctor telephone service available in Hobart. This was the first time that we had called this service for Raphael and after the nurse gathered some information from us over the phone, she asked us if we wanted an ambulance or to take him into the hospital emergency room. We didn't think that he needed to go to the hospital but this is the usual reaction for medical professionals who hear/see Raphael when he is a little sick. After getting a very brief medical summary, she referred us to a doctor and he told us that it would be ok to give Raphael another dose of panadol if he had vomited the previous dose out within 25-30 minutes of it being given.

He said that it was "refreshing to hear" when we said that we didn't want to bring Raphael into hospital whenever he is sick or we would be going there every week. From looking at him this time though I quietly thought that we might end up bringing him into hospital later that night; he had slight respiratory distress and he oxygen saturations were 90-91 when on CPAP instead of his normal high 90s. If he got any worse then I was going to bring him in. The previous night I was woken up 5 times by Raphael. I needed sleep but it didn't look like I was going to get much sleep that last night either so I mentally prepared myself for another sleepless night in the emergency room. I got to sleep at about 12:30 after monitoring him for a while and he woke up at 5:30. That was much better than I expected.

He is bright as a button now and this morning while watching me prepare his breakfast he even said and signed "more" without any prompting from me. His nose is runnier than normal but I don't think that we will be taking him to the emergency room today.

Development and vomit

Raphael has done some new things. He is getting over his sickness finally and has been trying out a new sign and a new sound. He can now say "ooooo" and can copy us when we sign "more" although I dont believe that he knows what it means.

On another note I have somethign to complain about. As a general rule we try to feed Rapahel as much food as possible, but if he eats too much too quickly then he vomits. So it has become an art form to determine whether he has eaten too much recently. Today, recently, we decided that he had eaten enough for the time being but for the first time I can remember he wanted to eat more. We didn't want to risk giving him more and so we refused to give him anything. Unfortunatelly this made him upset and when he gets upset he can go into a coughing fit and when he goes into a coughing fit he is very likely to vomit; this is exactly what happened. So in an attempt to prevent him from vomiting, we caused him to vomit. That was so frustrating!

Some developmental skills

Raphael has learned two new signs:

• "yummy" and
• "hearing aid"

He uses yummy usually when we feed him something from a spoon, particularly if it was something from our plate/bowl rather than something from his own bowl. He uses "hearing aid" whenever we are about to put his aids in. The problem with this is that his hand is in the way.

He is responding quite well to verbal communication while he is wearing his hearing aids but will only verbalize language with grunts rather than pronounceable words or syllables.

On the down side his left ear's hearing seems to have become significantly worse since the gromet insertion (90db loss) this places his left ear in the severe to profound hearing loss category. It is our fear that because it seems to have become worse, it may continue to degrade in the future.

Also at the moment his right ear's grommets are leaking quite a bit of goop which keep on clogging up the hearing aid molds making them useless. We have become quite proficient in cleaning them but it is not a pleasant task to extract a thick glob of puss from the mold tube.

The boiling tube

Last night a peculiar rattling sound emanating from Raphael's equipment woke us up. It turned out to be condensation in the tube that had built up over night into a small puddle in a loop of the tube. The air blasting past the puddle of water was making it gurgle.

We emptied the tube and turned the humidification setting down a notch to see if that solves the problem. I guess we'll find out tomorrow night.

Video conferencing at home

Today two guys have come to install a video conferencing unit in our home so we don't have to go to Australian hearing to use their unit. This will be really good for us because we wont have to get baby sitters every Friday and it is one less time per week that we have to go out for our appointments with Raphael.

RIDBC are fully funding the unit. I can scarcely believe that they are willing to fund this. It is costing them a fortune in start up and ongoing costs.

Paediatrician and paediatric intensivist

Today we had a paediatrician review to discuss the Sydney trip but we weren't really ready. We only had two letters and we had not gone through any of the recordings yet to consolidate our understanding of what we had learned in Sydney.

The paediatrician was impressed by the size of Raphael's tonsils and wants us to see our ENT to discuss removal again. She would like to wait until Raphael is over his current infection though.

While we were there we managed to see Raphael's intensivist who showed us how to setup the humidifier on Raphael's CPAP machine and also gave us the ability to make minor changes to the pressure if Raphael needs it. We also discussed the possibility of using the "AutoSet" feature on the CPAP machine but decided against.

Raphael does not like to touch grass

And my wife needed a way to remind me that it was time to mow the lawn

Trip to Sydney

We traveled to Sydney from 16/10/2007 to 31/10/2007 to get some second opinions from medical paediatric specialists and educational specialists who had dealt with CHARGE syndrome.

It would have been nice to be able to say that we had a nice vacation but in reality it was really hard work. The hardest bit by far was transport. We were kindly hosted by RIDBC in a fabulous four bedroom house that they allowed us to use while we were there. But this location is not near a train station and to get to our appointments, that weren't at RIDBC, we had to catch a bus to the nearest train station, catch a train to the city and then transfer to another train or bus to get to where our appointment was. This usually took between 2.5 to 3 hours one way and after over five hours travel each day we were exhausted. The furthest we travel in Hobart is 20 minutes so this was a bit of an adjustment for us. When I have previously stayed in Sydney I have been near a train line and I have only traveled into the city which was really easy and fast. Because of this past experience, I wasn't prepared for long travel times. We had even made some 9:30am appointments; I don't know how we managed to get to them on time.

While we were there we saw:

• Medical Specialists:
• Paediatric Cardiologist
• Paediatric ENT
• Paediatric Ophthalmologist
• Paediatric Sleep Specialist
• Paediatrician
• General Practitioner
  

• Education and Allied specialists
  
• Teacher for the deaf and blind
• Specialist teacher for learning to hear
  
• Orthoptist
• Educational Psychologist
• Occupational Therapist
• Preschool teacher for the hearing impaired and Auslan signing
• Preschool teacher for the vision impaired
• Playgroup leader for hearing impaired children
  

• We also met with some "CHARGE families" (families with a member who has CHARGE syndrome). Thanks to Stephanie and Angela who made an extra special effort to meet with us. Stephanie also has a blog. Pictured to the right are photos "Oscar and Raphael" and "Stephanie and Raphael".
  

(I hope I haven't missed anyone out)

We selected all of the Medical specialists based on recommendations from other CHARGE families. It was comforting to see doctors who said "I have seen children with CHARGE syndrome before" rather than "CHARGE association... hmm, I've heard of that". Actually there was one exception to this, the GP that we saw in Sydney hadn't heard of CHARGE syndrome at all. We weren't planing on seeing a GP but of course Raphael (and the rest of us) got sick while we were there. It didn't matter that the the GP didn't know about CHARGE syndrome; he checked Raphael's lungs, airway and ears which was all that we needed.

The following is a compilation of the topics that were covered with the relevant specialists. This has taken me ages to compile (I actually only added this list to the post in very late December)

Topics covered with the ENT (Ear, Nose and Throat surgeon)

• hearing (and getting worse), current hearing aid solution good at this time.
  
• CPAP, sleep study and airway issues, also associated with tonsils
• poor feeding and regurgitation
  
• possibility of seeing gastroenterologist
• good nasal passages
• good teeth
• medications
• improvement over time
  

Topics covered with the Ophthalmologist (eye surgeon)

• extensive left eye coloboma
• right eye coloboma
• lots about patching (ocular occlusion)
• eye pressure
• retinal detachment
• photographing colobomas
• Raphael's general vision capabilities
• eye conditions associated with CHARGE syndrome

Topics covered with the Cardiologist (heart doctor)

• PFO/ASD
• aberrant left subclavian artery

Topics covered with the Paediatrician (CHARGE specialist)

• Raphael's complete medial and developmental history, conditions and diagnosis including:
  
• Notable test results
• Stridor
• funny right ear
• hearing loss
• poor weight gain
• low set ears
• short neck
• facial weakness
• hearing loss
• physical skills
• speech/communication
• ear infections
• pneumonia, choking and aspirations
• CPAP and sleep
• PFO
• Need for thyroid test
  
• Infections
  
• Grommets
• Vestibular dysfunction (balance)
  
• How to go about getting testing for the CHD7 gene
• Need for continued early intervention including total communication (signing and verbal)
• Specialists we are seeing in Sydney
• Other incidence of CHARGE in Tasmania
• Good prognosis

Topics covered with the Thorasic Surgeon (and sleep specialist)

• CPAP pressures and variable pressures
• Tonsils and adenoids
• Need for a sleep study (better after removal of tonsils and adenoids)

The most notable medical outcome of the trip is that were are almost certainly going to have Raphael's tonsils and adenoids removed to help with his breathing while sleeping.

The education and allied health specialists at RIDBC gave us excellent information while we were there including:

• how to test Raphael's responsiveness to the ling sounds
• how to incorporate a communication programme to teach both signing and verbal skills
• visual skill testing

We are still waiting for the written combined services report (as of 27/12/2007) but my wife has talked with them about their observations over the video conferencing facility.

We did have a couple of days when we could do some sight seeing for the kids. But don't think that Raphael got to fully appreciate the 3D IMAX theater, given his monocular vision. Even 3D glasses won't let him see in 3D.