My name is Paul Bartlett, my third child was born on 18/3/2006. We already had names selected for a girl or a boy and so we instantly know what to call him. Raphael Shalom Bartlett 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.Everyone told us that a lot of babies have stridors and facial palsy and that we could probably expect it to clear up in a few days. After a few days he still had the same little peculiarities and people comments turned to "it will probably clear up in the first few weeks". After a few weeks the predictions turned to "a few months" but by this time another problem had become to surface. Before he was three months old we visited a paediatrician because he wasn't putting on weight fast enough. This referred onto an ENT and barium swallow x-ray in the same day. Back then I thought (naively) that having three medical appointments in one day was probably some kind of record.
More work ensued over the following months looking for the reason that he was not putting on weight and trying different things to get Raphael to gain weight culminating in final success with placement of an NGT (NasoGastric Tube) to supplement his feeding by mouth. During this time we had an echo cardiograph that looked for vascular rings around his oesophagus. There wasn't one but it found a small ASD (Atrial Septal Defect) to add to his list of problems. His osteopath, who was trying to therapeutically resolve his facial palsy, noticed a difference in Raphael's eyes which was ultimately diagnosed as being a microphthalmus (small eye) with a large coloboma of the optic disc and retina. Later, a trip to an audiologist revealed that Raphael had hearing problems and the list of issues was beginning to form a small mountain of reports and letters detailing Raphael's problems.
Eventually an MRI was performed on his head and chest to try to find out what was going on inside him. The anaesthetic gave him a rough time but no permanent damage was done. The MRI revealed yet another problem with his vestibular semi-circular canals (which provides a sense of balance). This was enough for the geneticist to make the diagnosis of CHARGE syndrome for Raphael. He indicated to us that this was a very rare condition and according to his database this is the first case in Tasmania.
Researching on the web for any information on CHARGE syndrome, we came across information that seemed to match other issues that we had noticed in Raphael but previously had not considered them to be important. We found excellent sources of information from the CHARGE Syndrome Association of Australasia, the CHARGE Syndrome Foundation (US), the CHARGE Syndrome Listserv (US) and CHARGE Family Support Group (UK). Their websites, published documents and parent contributions have given us excellent sources of information and platforms for questions to our medical consultants.
So the number of appointment started to grow. Adding to the early intervention and therapy appointments came a bunch of tests to look for the other known potential problems with CHARGE syndrome. Three appointments in one day was no longer a record for us and it was becoming the norm. To date our record number of appointments in one day is eight.
I tell Raphael's full story on a blog that I keep about him. You can find it at http://raphaelincharge.blogspot.com/
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