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.