A couple more Doctor appointments

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

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

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.

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.

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.

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.

Endocrinologist, dietician, paediatrician and hospitalisation

Raphael had his first endocrinologist appointment today. There were no surprises, but it is good for us to hear from the specialist. We will have a thyroid blood test at some time but this is not urgent.

While we were waiting for the the endocrinologist we managed to see Raphael's dietician and we were able to adjust his feeding script that we receive from the hospital to reduce the amount of Nutrini and increase the amount of solids fortification (PediaSure).

Raphael had lots of coughing yesterday afternoon so while we were in the clinic we also asked to see a paediatrician to just check his lungs and make sure that he was ok. He had a temperature of 40.9c! He didn't seem to be that sick to look at him but apparently he was cooking inside.

The paediatric registrar had a look at him and his lungs sounded clear, which is good, but his tonsils were really swollen. Any other child would have been sent home but because he is complicated the registrar phoned Raphael's regular paediatrician and when she came in to have a look at him, she ordered him to the ward for the night. His tonsils were so swollen that she was concerned that may exacerbate his sleep apnoea and so wanted him to be constantly monitored overnight.

He was written a script for Penicillin (to treat any possible bacterial tonsillitis infection) and Prednisolone (to reduce the swelling of his tonsils). Of all the drugs in the world I would have thought that penicillin was probably the most well known, well maybe apart from Viagra. But the hospital didn't have any Penicillin. Isn't that kind of like the cheese shop sketch? Oh well the doctors said that Amoxycillin would be fine in this instance and so he was given that instead.

Paediatrician and travel help

We went through a good list of questions today with Raphael's paediatrician. Just like me she is very happy with his weight gain and general appearance. Fortified feeding is still required but tube feeding is no longer being considered (which is great news). I believe that this marks the end of the "no NGT trial" and that we can call it an outstanding success.

We are giving ourselves a great big pat on the back for all the hard work that we have done but also not forgetting to praise God for this amazing turn around that no-one predicted.

After the paediatrician appointment we went to see the guy in the hospital who manages the travel support for assisting us to travel to Sydney. We were careful to clearly explain the travel and accomodation support that we will receive from other places because we don't want to "double dip". The hospital is going to be very helpful for us financially as they are willing to cover some of our taxi trips which looked like they were going to be more expensive than our air tickets.

Another long paediatrician appointment

We had another 1.5 hour paediatrician appointment today. I have been quite sick and so it took all of my concentration to follow what was going on during this consultation, at one point the doctor asked if I felt ok because I had gone pale and broken out in a sweat.

Raphael had re-hydrated himself since his last weighing and he weighed in at as respectable 10.18kg in the hospital. Again the dietician and paediatrician are happy to continue the trial without the NGT for another month.

We are also going to have a third in-depth barium swallow to examine Raphael's swallowing mechanism.

During the consultation, our paediatrician said that we are brave parents because we are willing to explore how far Raphael can go without committing him to surgery. I have to say that there is no more effective way to crush someone's bravery by telling them how brave they are. But for me, the safest course of action (surgery and drugs) is not something that I think would make my son's life worth living. So my bravery is not grounded in bold confidence but rather in choosing the long term life benefit over the short term risks. This means that I need to take other courses of action to mitigate the short term risks.

Other topics covered:

• Weight gain, feeding, milk, solids and vomiting
• This last cold that he has had
• Aspiration risks and fundoplication
• Other CHARGE kids swallow development and reflux
• Fundraising for going to Australasian CHARGE conference next year
• List of CHARGE features from UK website. Notably
• Cranial nerves
• Gross motor skills
• Language skills
• Dental issues including teeth grinding
• Sleep sitting parasomnia (like sleep walking except Raphael can't balance standing up up and so he just sits up)

Here is a video of his sleep sitting:

Paediatrician

We had a quick paediatrician consultation today to review Raphael after his hospital discharge and to talk about the results from the tests. The tests were all clear btu this still means that we don't realy know what has been giving him the last three high temperatures. We are guessing that it is just cold viruses.

We talked about the possibility of trialling Raphael on oral feeding without using his NGT before we make the current solution more permanent with a G-tube. Our paediatrician doesn't think that it will be successful but is happy for us to try. Her main concern is that the increased volume taken by mouth might result in an aspiration pneumonia and if this happens then we will have to abort the trial.

On another note, even though the latest antibiotics have given him severe diarrhoea, he reached 10.0kg today; Yay!

Bronchiolitis

Home care nurse visited again this morning to check up on Raphael. She is concerned about him and thinks that he is a borderline case of needing oxygen overnight tonight because of his respiratory difficulties. We are not equipped at home to supply oxygen to Raphael with his CPAP so he would have to go to hospital if he needed this.

We put him down for a morning sleep with his CPAP machine and agreed to take him into the ward tomorrow for a Paediatric resident to check him. I personally didn't think that he needed to go to hospital but I was not going to reject the advice.

He slept very well with the CPAP and I took him in after he woke up. I believe that the resident was a bit overwhelmed by Raphael's condition. Raphael always appears to be in slight respiratory distress, even when he is well, so it is hard for doctors to decide whether he needs close monitoring in hospital. In the hospital his temperature was measured as 37.5 and it was noted that he had more respiratory distress than normal but was well hydrated. The resident called the on-call paediatric consultant, who just so happened to be our paediatrician, and returned to us with the same opinion. Everyone agreed that he is a borderline case for hospitalisation.

This places the decision on us and so I brought him back home with the advice to bring him into emergency if we think he heeds to be hospitalised.

One appointment becomes four

This morning We had an appointment at the hospital for our other son. This just so happened to be with the same surgeon who is scheduled to perform Raphael's coming surgery.

We had Raphael with us and at one point the Surgeon stopped and commented on the nasty cough that Raphael has barking. He said that this might be an issue for his surgery next week. When we said that we were happy for Raphael's preferred anaesthetist to make that decision on the day before the surgery the surgeon replied by saying that the anaesthetist in question would be on leave, and would not be back for seven weeks. Annie and I were dumbfounded. We thought that we had already confirmed that Raphael's anaesthetist would be available and so we didn't know what to say. Later the surgeon confirmed for us that particular anaesthetist would definitely not be available.

Due to an administrative error we still had a paediatrician appointment today that should have been cancelled. So we took advantage of this appointment and had a consultation with our paediatrician about what we were going to do. She was a little concerned about his current cold symptoms and so this, mixed with the absence of Raphael's anaesthetist, resulted in her suggesting that we wait until after his anaesthetist is back. Annie and I were relieved with this assessment.

While we waited between the two appointments we made two impromptu appointments with the hospital social worker (to ask about respite options) and dietician (to talk about his weight gain and dietary requirement).

In hospital again

Raphael had a hard night on Thursday 31/5. He coughed up mucus into his CPAP mask and we think that he may have inhaled some back into his lungs. He didn't have a temperature but he was starting to cough, reminding us of previous times when we had to admit him to hospital. After taking the mask off and putting him on his stomach he coughed up a lot more mucus. Annie and I couldn't agree on whether to refit his mask again and so we called on a home care nurse again. The nurse visited us and had a listen for any problems in his lungs and we eventually refitted his mask. The rest of the night was generally uneventful (apart from a few "high leak" mask alarms)

Early Friday morning (1/6) we called on the home care nurse again because we found that Raphael had a high temperature. Sure enough we packed up and went into hospital again and dumped our other kids on one of our baby sitters. He was inspected by a doctor and a chest x-ray and blood was taken. The verdict was that Raphael probably just has a viral infection that isn't causing pneumonia yet but given his history, and condition, it would be wise to admit him over night to monitor him if he gets worse.

Our paediatrician was on the paediatric ward and so we managed to ask her our two burning questions about the surgery coming up on the 12/6 (it has been brought forward from the 14/6). We wanted to know what people can eat after having fundoplications and we wanted to make sure that our preferred anaesthetist was going to be able to perform the anaesthesia on the modified surgical date. Her answers put our minds at rest and we are all ready to proceed with the surgery on 12th of June.

Later that day a registrar tried unsuccessfully to insert an intravenous line to give him antibiotics (just in case). Eventually he was given an injection into his muscle to slowly release antibiotics over a period of twenty four hours. Apparently this is much more painful for the child and so it is blended with a local anaesthetic to make the pain go away quickly. The irony is that the anaesthetic causes more pain while the injection is being given.

An informative day in the hospital

Our paediatrician talked to me this morning. All the relevant consultants now agree that it is a good idea to proceed with inserting a g-tube and performing a fundoplication. We have a tentative date booked in three weeks for the operation but this is dependant on there being an intensive care bed available after the procedure.

I also finally managed to get copy of a stack of reports that I was missing. The consultants are generally too busy to chase down reports so the best thing to do is to ask a nurse (or intern/resident/registrar) to get copies of all the reports ready for the consultant so all the consultant has to do is say "give the reports to them".

Still in hospital

Yesterday we saw a paediatric surgeon about the possibility of performing a laparotomic (open) G-tube insertion and fundoplication.

The ENT registrar also visited to ask about the mysterious neck which had been ordered for Raphael. Like us, they seem to be unsure why this has been ordered. I actually think that there was a miscommunication somewhere and that it was supposed to be ordered for our other son Zachariah. He also commented that the CT scan showed some evidence of congenital cholesteatoma but he probably does not have this. It will continue be monitored and we will talk more about this at the next ENT consultation.

We attempted to connect for his afternoon sleep but he would not tolerate it again. It seems at though we are not going to have any success with his afternoon sleeps. I was exhausted and so I went home to sleep and while I was out I missed our paediatrician who came around to see us (rats).

Last nights CPAP was good. The intensivist made some adjustment to the mask by hacking at it with a pair of scissors becuase she said that it was probably the mask blocking his nose that was causing the unknown desaturations the previous night. He woke up four or five times last night, panicking with the air flow across his face but had no desaturations. His blood oxygen saturation level was consistently around 97%. They said that they will not send us home with this mask because it is not safe now. They have tried three masks so far but they will keep trying to find better ones.

The intensivist has increased the CPAP level to 9CWP (centimetres of water pressure). This seems to be enough to overcome his obstructive snore. This level of pressure is getting up to the level where we start to have to monitor his facial development. High levels of CPAP can push the front facial bones back during growth. The intensivist is interested to know how much the NGT is effecting the efficiency of the CPAP. We may have to do further adjustment of pressure after the NGT is replaced with a G-tube. This is what his profile looks like now

Still in hospital

Raphael is still on oxygen when sleeping otherwise his oxygen level maxes out at 85% and drops to the mid to low 70's frequently. The paediatricians say that they want him to be above 90-92%.

Early today we had a visit from a paediatric surgeon resident to have a quick chat about having a G-tube surgically placed via a laparotomy and also possibly performing a fundoplication. This initial consultation was mostly fact finding for the paediatric surgeon with some very basic information for us.

At 2:30 pm a session was arranged to give me an introduction to CPAP (Continuous Positive Air Pressure) and how we are going to introduce it to Raphael in the hope that it will overcome his obstructive sleep apnoeas. One thing which really stuck in my mind was when they said that applying CPAP for a child is a life altering decision becuase of the large amount of work involved in maintaining it at night through the alarms and potential issues that itself can cause. The meeting had our paediatrician, two intensivist consultants (intensive care doctors) and two home care nurses who are going to help us maintain this system long term.

Unfortunately (or one could argue fortunately) some of the equipment that was set aside for Raphael's CPAP was intercepted in an emergency for another child so we were not able to start CPAP on Raphael tonight. They pointed out that although CPAP is used widely, it is very difficult to find a mask that fits an infant well becuase the major market for these sorts of devices is for "fat men who drink too much".

We are planning to start the CPAP tomorrow at 3:00pm during Raphael's afternoon sleep.

Marathon paediatrician effort

We spent well over an hour and a half with Raphael's paediatrician today and also spent some time with an intensive care consultant (intensivist) discussing Raphael's need for some intervention regarding his sleep apnoea.

After Raphael's simple sleep study, his ENT examined his adenoids and tonsils but didn't find that they were obstructive and therefore would be no benefit in having them removed. Because of this, the next step is to admit Raphael to hospital on Monday for some days for all of us to get used to operating a CPAP (Constant Positive Air Pressure) machine while he sleeps.

As usual with long consultations, I will need to go over the recording that we made to pull out all of the information and to make the list of topics covered.

Confirmed not doing G-tube

Raphael's Paediatrician's rooms called us to confirm that our paediatrician does not want to proceed with the fitting of the G-tube at this time.

Not doing G-tube now

Surgical bookings managed to contact Raphael's Paediatrician and have received advice to hold off on performing the G-tube surgery. From another source I heard a rumour that it is very difficult to perform a PEG on a child this young, keyhole surgery for this procedure is not offered at RHH, and a laparotomy procedure could take 6 hours and so entails considerable risk for a child with general anaesthetic problems.

In hospital again

On Wednesday (21/3/2007) morning Raphael started coughing after one of his vomits. After this did not stop for a while, Annie took him to our GP who was concerned that he might have vomited his NGT out of his stomach into his lung. She pulled his tube out but when this didn't stop his coughing, she sent Raphael to hospital.

Annie called me at work and asked me to come into hospital. I went to the emergency room but it was closed. Huh? Emergency room closed!?!? Oh no wait... the new emergency room has opened in Liverpool street. I had thought that the "emergency" sign in Argyle street must have removed by vandals or drunks.

So I went to the new emergency room and found Annie there. It wasn't long before Raphael was brought into the treatment area and a doctor came down from paediatrics to have a look at him. His temperature wasn't too bad and so he wasn't put on antibiotics immediately like last time. He had a sitting chest x-ray and the initial cursory examination showed no obvious problems in his lungs. Later when the x-ray was enlarged and examined closely, our normal paediatrician found some signs of a previous infection in his lungs.

After a few hours he was transferred up to the paediatric ward and he stayed there that night. His oxygen level was a little on the low side so the nurses tried to give him oxygen with a mask and later with little nostril tubes (I don't know what they are called). But he struggled a lot with this tube on and it seemed as though all his struggling seemed to result in his oxygen level going down rather than up.

The following day (22/3) his temperature had come down and he had stopped coughing. We were getting ready to go home but took the chance to see the dietician while Raphael was still an inpatient.

We are going to continue with primarily feeding him with Infatrini in the short term because his vomiting of solids other than purée causes difficulty in managing a balanced diet. The dietician suggested a number of reducing solids to purée so we will try some of those suggestions out soon. Feel free to leave comments about how to purée meat down to a fine paste if you have any suggestions.

Just before we were about to leave he had his temperature taken again and it was rising again. A paediatrician had a look at him and took blood to have it tested. When the results came back they showed that his white blood cell count was elevated. He was put on intravenous antibiotics again. Raphael is a terrible fiddler and so his line was taped in well and bandaged over the top to stop him from ripping out his line.

He stayed in hospital till today (Saturday 24/3). The antibiotics seem to have worked their magic and he is back to his normal, cheery, smiley self. We will be giving him antibiotics through his NGT three times a day for the next seven days to remove this last infection.

Paediatrician follow-up

We spent another 50 minutes consulting with our paediatrician today. The audio recordings that we take are so valuable. I have listened to it in detail again and I have taken notes from it.

I am a very studious listener normally but I still miss some points the first time through. It is also really good to double check the meanings of words that I thought I knew at the time she said them to be sure I understand what she is talking about. She can cover so much material in that time.

We covered many topics in excellent detail during this consultation. We read somewhere in the CHARGE literature that you should limit yourself to three topics per consultation so that you don't confuse the medical professional. But if we limited ourselves to three topics per consultation then it would take us years to get through everything that we want to talk about. Fortunately the paediatrician seems to be able to cope with our bombardment of questions with ease.

In this consultation we talked about:

• Raphael's last hospitalisation
• Sleep apnoea
• Timing of ENT reviews
• Auditory Brainstem Response test
• Organising a case conference with the ENT, anaesthetist and the paediatrician.
• Endoscopy during anaesthetic
• What is known about Raphael's current hearing
• Anaesthesia resistance
• Paediatric Cardiologist referral
• Endocrinologist referral
• Recent blood and urine test results
  
• How we can obtain medical records from the Royal Hobart Hospital (RHH)
• Renal ultrasound results and information on MCU (VCUG) test
• First aid course to handle aspiration and/or choking
• Nasogastric tube (NGT) versus percutaneous endoscopic gastrostomy tube (PEG)
• Vaccination recommendations
  
• skeletal anomalies