Geneticist Appointment

Some time ago our paediatrician arranged for a visiting geneticist to see Raphael with the paediatrician present as well, but as the geneticist only visits once every two months this was the first chance that we had to see him. He had a chance to scan over the MRI report and he concluded that the only condition that was close to Raphael’s condition is CHARGE syndrome, but he did not think that this fitted enough. The paediatrician and geneticist organised to run a CT scan to do further tests to see if there is anything wrong with his ear bones that the MRI hinted at.

MRI scan

This was Raphael’s first general anaesthetic (GA). He has to hold very still while the MRI is performed and the only way to guarantee this was to put him to sleep. His breathing problems already made him a problem candidate for GAs but there were other problems in store as well.

We arrived for “day surgery” at the Royal Hobart Hospital (RHH) and the staff helped us through all of the administrative work that needed to be done. Then a nurse put some contact anaesthetic on the back of both of his hands so that it would not hurt him so much when they stuck him with the GA needle. Of course he instantly wanted to wipe it all over everything in site but the nurse was ready for this and quickly taped the goo down and then wrapped up his hands in bandages until they looked like little boxing gloves. After a short wait the anaesthetist came to us to have a chat about the anaesthetic that was going to be performed on our baby. But first a flashback:

We really wanted to have this MRI test done to see if it could help with his feeding but when we received the anaesthetic information gathering sheet we wondered whether they would be willing to perform a GA on him. Normally when we fill in medical forms for ourselves they ask if we have any pre-existing medical conditions and I tick “no” in all of the tick boxes down the column. But with Raphael I found that I was ticking yes, and providing more information for all of the questions that they were asking.

Fortunately the anaesthetist assured us that he would be willing to do the anaesthetic even though Raphael was a high risk candidate; and we happily signed the consent form that indicated that we understood that there were respiratory risks associated with the procedure.

We trooped down to the X-ray department and hung around the waiting room for a while. Finally we were called and we were told that only one parent could go into the preparation area and that parent would have to leave once Raphael was asleep. So I started to walk into the MRI room when I was confronted with a large sign on the door “WARNING: POWERFUL MAGENTS. NO METAL OBJECTS TO BE TAKEN INTO THIS ROOM”. A quick mental check yielded that I had a mobile phone, watch, wallet, keys, wedding ring and fly zipper, none of which I would be happy about having ripped off me by a powerful magnet. The radiographer realised that I had stopped following behind her and she turned to see me staring intently at the large warning sign. “Don’t worry about that” she said ‘easy for her to say’ I thought, ‘she isn’t the one with serrated metal close to her crotch’. Anyway I took her advice and sure enough I did not sustain serious injury that the huge warning sign implied might happen.

I laid Raphael down on the preparation bed and a swarm of medical staff surrounded us with tubes, masks, needles, syringes, ties, bandages, swabs, and all sorts of things that I could not identify. I unclothed him and the anaesthetist got to work with putting him to sleep.

I have witnessed a few general anaesthetics and received one myself. It seems like when someone is given the injection that they are basically out in two seconds. But this was not the case with Raphael. The anaesthetist inserted a tap into the back of Raphael’s hand. I am not sure how good the contact anaesthetic is supposed to be that he had earlier, but I don’t think it worked very well in this case. Raphael cried out and began to fight full force. He was given an anaesthetic dose and it seemed to have no effect. The anaesthetist's assistant then held a mask over Raphael's face and after another dose from a syringe, he was still fighting and kicking. After a third unsuccessful dose the anaesthetist said that they would need to intubate Raphael and that I might not like to be here when they do it. I am always interested in medical procedures and am not a squeamish person so I said “I’d like to stay and watch if that is ok with you” but to that he replied “actually I think it would be better for us if you left”. Not wanting to make their life difficult, I left them to it and Annie and I went to wait for everything to be over.

After many hours of not hearing any news, we were getting worried about what was going on. Our queries only resulted in the nursing staff saying as soon as he is awake they will call you to go and see him. After more time and more harassing from us the anaesthetist finally came to us to let us know that there were problems with the anaesthesia specifically that his airway closed up and he was unable to breath for short periods of time. He assured us that each incident was dealt with quickly and there will be no lasting damage. We asked if we could see him but were told that we should wait until he is out of the post-operative intensive care unit as he was on a nebuliser and still having breathing difficulties. After grilling him for information on all the details on what went wrong and making sure that he had written notes on the procedure for future GAs we waited for him to get out of sight and then casually asked some other staff where the post operative intensive care unit was.

We sneaked through little back corridors to find it (it really didn’t look like a place that we were supposed to be in). We found an office just before big floor/wall/ceiling stripes and signs indicating that we definitely weren’t allowed to enter that particular area and we asked the nice lady inside if we could see Raphael. Once she realised that we were the parents of “the charming little baby” she went to check on him and then said that one of us could go in and see him for a very short time. Annie eagerly went in and shortly came out with tears in her eye from what she had seen. “He looks so sick” she said. We found an excuse for me to go in to see him as well and I could see why she was so teary. He was in a curtained off area sitting on the nurses knee. He was fighting to open his sleepy droopy eyes and he was requiring constant supervision for his breathing. He had an huge mask over his face (as though it was sized for an adult's nose and mouth) giving him testosterone and oxygen and his breathing was very strained; his stridor (gurgly breathing) was worse than I had ever heard it before. But I saw something else too, I saw the nurse whose knee he was sitting on. She had a big smile on her face and said it was a pleasure to look after this little baby.

He was admitted to hospital intensive care by the paediatrician and anaesthetist for the night where he could receive one-on-one nursing for the whole night and Annie and I went home to get some sleep.

The next morning we were woken up at 6:00am by a phone call from the hospital saying that Raphael was crying and they could not comfort him. Now of course he hadn’t eaten anything for over 24 hours so Annie told them that he was hungry and could be given some formula but they didn’t think that was the problem. Annie rushed to the hospital and I looked after the kids at home. After a short while Annie returned home with my boy. I asked her what the problem was and she said “he was hungry of course!”.

Thus ended the MRI saga.

Hospitalisation for Nasogastric tube (NGT) insertion

from the 4/12 to 8/12/2006 Raphael was hospitalised for getting an NGT and setting up a night time feeding regime. I (Paul) had a really bad cold at that time and between Annie and I taking shifts at the hospital and looking after our other kids, I did not get the rest that I needed to get over the cold. But the good news was that with the NGT, Raphael was able to put on over 100g a week. While consulting in the hospital, our paediatrician visited Raphael and ordered an MRI of his head and upper chest to see if that will help diagnose his throat problems. That was scheduled for 18/12/2006.

Paediatrician

Our paediatrician has finally gave into Raphael’s stubborn feeding problems and ordered him to hospital too have a Nasogastric tube (NGT) insertion and setting up a night time feeding regime.

Another Kind of Barium swallow attempt #2

This time it went well. Tube in, down to x-ray, short wait, the correct radiologist was there (phew) and the barium swallow was done with the appropriate x-rays. The result was even good news (not something that we were used to getting). There was no communication found between the oesophagus and the trachea.

Another echo cardiograph

Another echo cardiograph confirms that he still has an Atrial Septal Defect (ASD).

Eye behaviour

The eye behaviour doctor visited again and armed with the information from the ophthalmologist made further recommendations on how to exercise Raphael’s eyes and warned about watching for certain potential developmental problems.

Just a photo

Another Kind of Barium swallow

We arrived at the Paediatric Ambulatory Care Unit (PACU) on time to have the tube inserted for a barium swallow test but after waiting for a short while a nurse came out and sad “You are not supposed to be here today, it is for next week”. After a short some verbal negotiation she went back to check her calendar again and came back admitting that it must have been booked in her diary wrong as we definitely have a barium swallow X-ray booked for today.

We went into a treatment room and wrapped Raphael up in a blanket to immobilise his hands and then the procedure began. She measured the length of tube that she would need, lubricated the end of it and then slid it up his nose and slowly down the back of his throat. Of course he wasn’t very keen on this and thrashed his head from side to side (oops, I was supposed to be holding his head firmly to stop that). The poor boy gagged and choked and coughed and of course this made it all the more harder for the nurse to get the tube inserted. Finally it was over and the tube was tested to make sure it was in his stomach by sucking some bile out and testing it on some litmus paper.

Finally when we got to x-ray a puzzled radiologist asked us if we knew why he was asked to perform this procedure as the order from the paediatrician specified a particular radiologist was to perform the x-rays. He was very nice and very apologetic of the obvious administrative error that had occurred. After a phone call to our paediatrician, he confirmed that it would not be worth him performing the test. He informed us that his specialities were livers, kidneys, breasts, and penises and if we ever needed x-rays for these then he would be the man to see but the last paediatric barium swallow that he did was a long time ago and he would not be confident that he would be the best person to perform the procedure on Raphael. We agreed and were very civil about the whole thing, but afterwards Annie and I had a good rant to each other about the time that I had to take off work and the pain my boy had to suffer for no reason.

Audiologist appointment

Raphael had another Hearing test today called a "Hearing assessment using Auditory Brainstem Responses". Basically he was hooked up to a bunch of wires attached to his head and had a big set of headphones put on him and we then let him fall asleep in his pram. Then sounds were played through the headphones and the brain sensors looked for activity that coincided with the sounds. The findings of this test were that he had 40 decibel (db) hearing loss in one ear and 50db loss in the other. This effectively means that Raphael can probably hear us if we are sitting close and speaking in a reasonably loud voice.

ENT

The ENT did another laryngoscope. This time his nose was big enough to be the entry point (so it should be, I have an enormous schnoz). He said that he no longer thought that Raphael had laryngomalacia but that there was definitely something going wrong back there.

He said that if more information was required on his condition then it might be necessary to see a paediatric ENT Doctor (possibly in Melbourne) but he was going to let the paediatrician decide on whether there was any value in doing this.

Early Learning

Annie started to take Raphael to the Early Learning programme run by the Tasmanian Department of Education.

Paediatrician

The paediatrician examined Raphael again today and recommended changes to his dietary intake, another visit to the ENT, and another kind of barium swallow test where the barium is pumped into his stomach directly via a Nasogastric Tube (NGT) and then it is slowly withdrawn (while still pumping) to show if there are any problems along the length of his oesophagus.

Audiologist

Had an Audiologist appointment where some ear echo type tests were performed. These determined that there was some hearing loss and further test would be needed to establish how much.

Solids for the first time

Introduced solids for the first time at the hospital with a speech pathologist present. Rice cereal… yum. All of our kids have pulled the same expression the first time we fed them rice cereal; just as though we had put the most bitter thing ever into their mouths.

Rolling over

Raphael has started to roll over by himself not just tummy to back but also back to tummy again although this is obviously much trickier for him.

September 2006 - Ophthalmologist

An eye surgeon examined Raphael and commented that Raphael’s left eye had a number of problems that probably renders it useless. His right eye also had some minor problems and it would be a good idea to keep track of that eyes progress to make sure that nothing further goes wrong with it.

Eye behaviour specialist

An eye behaviour specialist visited Hobart once every three months so this was the first time he could see Raphael. He noticed that there was definitely something wrong with his eyes and referred him to an Ophthalmologist (eye surgeon).

Vomiting

With all the different feeding attempts Raphael has begun vomiting. And when he vomits he expels everything. Usually in four or five hoiks he is swimming in a small puddle of everything that we had managed to feed him over the last hour.

This was actually previously diagnosed with a barium swallow as "significant gastro-oesophageal reflux" but this is where we really started to notice the consequences of it.

Osteopathy

Some time in May Annie started to take Raphael to a baby Osteopath once a week to see if that could help his problems. Annie also discovered some information on the web about Chinese acupuncture points and realized that Chinese acupuncture point massage was similar to what the osteopathist was performing on Raphael and so Annie started doing the acupuncture point massage on him every night. the osteopathist also referred Raphael to see an Eye behavioural specialist because of his different sized irises.

May to December 2006 - Feeding

From May to December we had been trying all sorts of different things to help Raphael gain weight based on advice from the staff at the RHH. Breastfeeding, expressing, different types of teats, different types of fortification, formula, different strength formula, different feeding schedules, and finally Infatrini (the highest powered formula that can be safely given to a baby). Also during this time we had many appointments with speech pathologists and dieticians.

Echo cardiograph

This test Showed that Raphael has an Atrial Septal Defect (ASD). “Two small shunts”; this is not a serious problem but will probably worth while revisiting when he is older as it may repair itself. It was lucky that this was found because no doctor has been able to hear his heart this far because of his really loud breathing and the echo cardiograph was actually only being performed to look at the arteries that were surrounding his oesophagus to check if they were squeezing in.

Paediatrician

Finally our normal paediatrician was back from leave and we could consult with her.

She proposed that the number one problem that needed to be addressed was his weight gain and that all other problems could be allowed to wait as they weren’t life threatening and his weight gain may resolve some of those problems anyway. She referred us to the Royal Hobart Hospital (RHH) feeding specialist nurses in Paediatric Ambulatory Care Unit (PACU) and arranged an Echo cardiograph to also be performed in the hospital.

Barium swallow

This is turning out to be a very busy day. Went to have a Barium swallow performed at Calvary hospital with a paediatric radiologist persent. For this test he laid on an x-ray table and was presented a bottle with barium meal in it to drink. To my surprise he hungrily gulped down this apparently milky substance and a series of chest x-rays were taken of him. These showed that he aspirates a bit (sucks the fluid into his lungs), he has significant gastro-oesophageal reflux and that his oesophagus may be being slightly squeezed by an artery.

First ENT visit

Later that same day we visited the ENT. Annie and I carried in our three month, old gurgling like a jack hammer, to the Dr’s office and briefly explained the reason that we had been referred to him. He did a laryngoscopy (sp?) through Raphael’s mouth because his nose was too small for the scope to fit through. Raphael hated it. He sat on my lap with one hand pushing his head back into my chest and the other holding his arms down. Every now and then I had to remind myself to only hold his head firmly and that I didn’t have to squeeze the life out of him with my other arm across his abdomen. This is what fathers are for. Mothers seem have too much heart to torture their sons for a prolonged period of time. After what seemed an eternity the ENT reported that it looked like there was some signs of laryngomalacia but also that he was producing a lot of secretions that were pooling at the back of his throat that he was unable (or unwilling) to clear himself (hence the gurgling sound). He said that all these secretions made it difficult to see what was going on. He recommended a Barium swallow test to try to work out if there was anything basically wrong with his oesophageal plumbing (not the term he used).

First paediatrician visit

Eventually we made an appointment with a paediatrician on the 11/5/2006. This wasn't Raphael's normal paediatrician but we were in a rush. The paediatrician referred us to an ENT doctor for the problems that he was having with feeding and breathing.

Raphael was born

He came into the world with raspy, gurgly breathing (stridor), a crooked mouth and a funny ear but that didn’t stop us from instantly loving him. A bit of suctioning by the nurse did not improve his gurgle.


He added to our little family nicely:

• Paul and Annie Bartlett
• Faith Bartlett (3yo)
• Zachariah Bartlett (2yo)
• and now Raphael Bartlett (0yo)

After a few days in hospital there was a small concern that he wasn't starting to gain weight correctly. His suck was strong but he seemed to choke a lot and get tired quickly while on the breast. Follow up nurse visits after leaving hospital resulted in a gradual increase in concern over his weight gain. Our other children were slow weight gainers too so we weren't that concerned, but it took ages to feed Raphael and lactation herbs didn't seem to be helping the weight gain. If anything he would become overwhelmed by the milk and turn away to stop drinking.

Here is a photo showing his wonky ear and crooked mouth. Normally he is extremely passive but we managed to catch him in this moment of rage when he was 4 days old. Check out the creases on his head!

Introduction

I am writing this blog about my son Raphael and specifically about the genetic disability that he has, called CHARGE syndrome (or CHARGE association).

I will soon publish a long chronological order of events about the problems that Raphael (my son) has been faced with since birth up to and beyond when he was diagnosed with CHARGE syndrome.

After then I will publish events as they unfold about the challenges that he faces in his life.

The entries in the blog are likely to be a mixture of factual summaries and long winded stories.

I hope that this blog will be used for four things

1. To help me remember all of the components of his medical problems and how they interact with his development.
2. To communicate with friends and family about what is going on with my boy. Of course I don't mind to talk about it, but this will be a place where the most up-to-date and accurate information will be published.
3. To provide a small source of information about what parents of CHARGE syndrome children can do for their CHARGE children in my home city: Hobart, Tasmania, Australia.
4. To get it off my chest!
   

The two best websites (and contact information) about CHARGE has come from the US and Australasian CHARGE Syndrome organizations:
http://www.chargesyndrome.org/
http://www.chargesyndrome.org.nz/