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swallow test where the barium is pumped into his stomach directly via a Nasogastric Tube (NGT) and then it is slowly withdrawn (while still pumping) to show if there are any problems along the length of his oesophagus.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/