An Orthoptist visit today confirmed that Raphael is not getting any usable vision from his left eye. But the good news is that his right eye seems to have good vision despite the small coloboma at the base of that eye.
There was not much to talk about with the ophthalmologist, so that was only a quick consultation. We talked about the possibilities of attaching the eye probing procedure to future surgeries because his last surgery was cancelled.
The longest part of this visit was actually trying to pay the bill, the new receptionist was hopeless, when she finally worked out what to do, she messed it up and had to do it all over again. I think it took about twenty minutes to pay the bill. I was not impressed becuase we had a tightly scheduled morning of twelve things to do at nine different locations. We still ended up managing all but two but I was so exhausted by the afternoon that I collapsed in my chair to sleep for two hours. Thank goodness that our ever-ringing phone didn't drill it's ring tone into my head while I was asleep.
Thursday 30 August 2007
Monday 27 August 2007
Development and weight gain (10.14kg)
Today we weighed Raphael at 10.14kg (a 60g increase from last time).
Raphael has begun cruising to more difficult surfaces of different heights. He still complains about having to do it but is willing to do it if the incentive is high enough.
He has also just managed to say Mama, it is a bit garbled but he clearly pointed to his mum and made this new sound. This is the first new sound in a long time and makes his list of sound:
Mama is English and Chinese for Mum and so we are going to claim it as two new words that he has learnt. I think that he knows that am "Dada" and that his mum is "Mama" but I can't be certain about that.
Raphael has begun cruising to more difficult surfaces of different heights. He still complains about having to do it but is willing to do it if the incentive is high enough.
He has also just managed to say Mama, it is a bit garbled but he clearly pointed to his mum and made this new sound. This is the first new sound in a long time and makes his list of sound:
- "dya-dya-dya"
- "adaadaadaadaa"
- "aiyaiyaiya"
- "mama"
Mama is English and Chinese for Mum and so we are going to claim it as two new words that he has learnt. I think that he knows that am "Dada" and that his mum is "Mama" but I can't be certain about that.
Friday 24 August 2007
Crazy heart beat
Yesterday we took Raphael to his GP and she confirmed, just as the home care nurse had said the previous day, that this was viral and could be the nasty Influenza that has been going around. We were hoping that he would not get this because he is too young to have had the Influenza vaccination and we knew that it would effect him hard. On the good side, the GP was very happy with how his lungs were sounding.
Last night at 2:30 am his heart rate raised realy high (because of his high temperature). When it past 170 beats per minute his monitor alarm went off and I grogily raised the threshold to 200, when he started to scream and his heart rate past 200 I fought off my deep sleep to see that it peaked at 224 before I disconnected his monitor and CPAP to pick him up.
It was like cuddling a boiling kettle; he was steamy hot and his racing little heart was boiling in his chest. I gave him some Panadol and some hydrolite (becuase he has really thirsty too) and eventually I was able to put him back to bed.
Last night at 2:30 am his heart rate raised realy high (because of his high temperature). When it past 170 beats per minute his monitor alarm went off and I grogily raised the threshold to 200, when he started to scream and his heart rate past 200 I fought off my deep sleep to see that it peaked at 224 before I disconnected his monitor and CPAP to pick him up.
It was like cuddling a boiling kettle; he was steamy hot and his racing little heart was boiling in his chest. I gave him some Panadol and some hydrolite (becuase he has really thirsty too) and eventually I was able to put him back to bed.
Thursday 23 August 2007
To the doctor
We took Raphael to his GP today because he is still having high temperatures and we also wanted our GP to fill in the medical professional component of the Companion Card form.
She told us the same that everyone else is telling us that Raphael has a viral infections and we will just have to wait it out and give him Panandol and ibuprofen when he needs it.
She is always very supportive of our applications for assistance and this was no exception. If you have a disabled child and your GP does not support you then I would suggest that you find another GP because it makes life so much easier.
She told us the same that everyone else is telling us that Raphael has a viral infections and we will just have to wait it out and give him Panandol and ibuprofen when he needs it.
She is always very supportive of our applications for assistance and this was no exception. If you have a disabled child and your GP does not support you then I would suggest that you find another GP because it makes life so much easier.
Tuesday 21 August 2007
Raphael is sick again
Unbelievable! I thought he had just gotten better but tonight we measured his temperature at 39.1 degrees. Some Panadol has picked up his spirits and he is sleeping at the moment.
Yet another contrast study - video fluoroscopy
Raphael had another barium swallow study test today, a video fluoroscopy. This is where they take an x-ray video of him swallowing various different textures to see what his swallow actually looks like.
Sure enough the speech pathologists called his swallow uncoordinated and there was a very clear aspiration when he was drinking thin textures, such as his Nutrini milk. There was no sign of reflux during this study but that doesn't mean that it doesn't happen at all, it just means that it didn't happen during the study.
Notably after he had a drink, later in the day, he did a massive vomit, the largest one I have ever seen him do.
Sure enough the speech pathologists called his swallow uncoordinated and there was a very clear aspiration when he was drinking thin textures, such as his Nutrini milk. There was no sign of reflux during this study but that doesn't mean that it doesn't happen at all, it just means that it didn't happen during the study.
Notably after he had a drink, later in the day, he did a massive vomit, the largest one I have ever seen him do.
Monday 20 August 2007
Weighing today (10.08kg)
Today his weekly weighing put him at 10.08kg which is a marginal increase of 50g since last weighing.
Also today, Raphael's Early Learning Teacher and Vision consultant visited us because Raphael could not make it to the last group with his ear infection. His teacher brought a box with her that seemed to contain an endless stream of things that Raphael found intensely interesting. Raphael showed off his ability to see and demonstrated his fine motor skills by posting objects into a box and manipulating small objects with his fingers.
Also today, Raphael's Early Learning Teacher and Vision consultant visited us because Raphael could not make it to the last group with his ear infection. His teacher brought a box with her that seemed to contain an endless stream of things that Raphael found intensely interesting. Raphael showed off his ability to see and demonstrated his fine motor skills by posting objects into a box and manipulating small objects with his fingers.
Saturday 18 August 2007
Companion card application
The following are the answers that we are submitting for the complicated question on the application for a companion card.
Describe your need for assistance in the areas of mobility, communication, self-care, learning and planning.
Raphael was diagnosed with CHARGE syndrome on 12/1/2007. Raphael has a number of factors caused by this syndrome that makes it difficult for him to attend community activities and events.
Raphael has respiratory problems that could potentially require immediate first aid and medical aid. Raphael has previously quickly descended into respiratory problems that have required hospitalisation on a number of occasions. Early identification of the warning signs has been important on these occasions in obtaining medical aid in time.
Raphael has propensity to vomit multiple times a week due to nerve problems. Raphael requires assistance while vomiting to ensure that it happens in a socially acceptable way (for instance, not in a public swimming pool as nearly happened on one occasion). But more importantly it is necessary to make sure that his airway is not compromised after vomiting. Equipment to cope with his vomiting (cloths, water, change of clothes, and bags) need to be taken everywhere he goes which he is not capable of carrying himself.
Raphael has no sense of balance, he is blind in his left eye and has vision problems with his right eye.
Raphael's vestibule (sense of balance) is completely malformed and he receives no useful information from this organ. Raphael currently cannot walk and, although it is hoped that physiotherapy and occupational therapy will eventually enable him to do so, his lack of depth perception and decreased field of vision will always make mobility and orientation a difficult task without the aid of someone to guide him.
Raphael has a moderate to severe hearing loss and partially paralysed vocal chords making verbal communication very difficult for him. Raphael uses hearing aids but these cannot be worn on all occasions (for example while swimming or air travel) and his external ear malformation means that hearing aids are not comfortable for him to wear for any length of time. Raphael may be able to communicate with sign language, in these instances when he does not wear his hearing aids, but this will require an interpreter to be with him.
Raphael's paediatrician has said that she only trusts a limited number of people with the care of Raphael because of his complicated medical problems: Royal Hobart Hospital Paediatric Unit, The Royal Children's Hospital (in Melbourne), and us (his parents). Even the Commonwealth Carer Respite Centre refuses to look after him because of his complicated high needs. This effectively means that he cannot go anywhere without one of us being with him.
Please provide the name, date and outcomes of any formal assessments of your condition.
Raphael was diagnosed with CHARGE syndrome by a Geneticist on 12/1/2007.
An Ophthalmologist stated that Raphael has "very limited or no useful vision in his left eye" (7/2/2007) and on 5/6/2007 another ophthalmologist advised us of another serious eye defect in Raphael's right eye that limits his field of vision in that eye.
Raphael has had a Barium Swallow on 17/5/2006 that identified significant gastro-oesophageal reflux and aspiration.
Raphael has had numerous audiological tests including ABR (Auditory Brainstem Response) and VROA (Visual Response Orientation Audiometry) tests to determine his hearing level. He has been classified as having a moderate to severe hearing loss.
Raphael had an MRI scan on 18/12/2006 that identified severe eye and ear malformations including complete deformity of the vestibular semi-circular canals (sense of balance).
Raphael has 25 medical professionals and 8 education professionals who look after his complicated case. We have a whole folder full of reports on his condition. I have summarised a very limited number of the reports here.
Medical professionals:
Describe your need for assistance in the areas of mobility, communication, self-care, learning and planning.
Raphael was diagnosed with CHARGE syndrome on 12/1/2007. Raphael has a number of factors caused by this syndrome that makes it difficult for him to attend community activities and events.
Raphael has respiratory problems that could potentially require immediate first aid and medical aid. Raphael has previously quickly descended into respiratory problems that have required hospitalisation on a number of occasions. Early identification of the warning signs has been important on these occasions in obtaining medical aid in time.
Raphael has propensity to vomit multiple times a week due to nerve problems. Raphael requires assistance while vomiting to ensure that it happens in a socially acceptable way (for instance, not in a public swimming pool as nearly happened on one occasion). But more importantly it is necessary to make sure that his airway is not compromised after vomiting. Equipment to cope with his vomiting (cloths, water, change of clothes, and bags) need to be taken everywhere he goes which he is not capable of carrying himself.
Raphael has no sense of balance, he is blind in his left eye and has vision problems with his right eye.
Raphael's vestibule (sense of balance) is completely malformed and he receives no useful information from this organ. Raphael currently cannot walk and, although it is hoped that physiotherapy and occupational therapy will eventually enable him to do so, his lack of depth perception and decreased field of vision will always make mobility and orientation a difficult task without the aid of someone to guide him.
Raphael has a moderate to severe hearing loss and partially paralysed vocal chords making verbal communication very difficult for him. Raphael uses hearing aids but these cannot be worn on all occasions (for example while swimming or air travel) and his external ear malformation means that hearing aids are not comfortable for him to wear for any length of time. Raphael may be able to communicate with sign language, in these instances when he does not wear his hearing aids, but this will require an interpreter to be with him.
Raphael's paediatrician has said that she only trusts a limited number of people with the care of Raphael because of his complicated medical problems: Royal Hobart Hospital Paediatric Unit, The Royal Children's Hospital (in Melbourne), and us (his parents). Even the Commonwealth Carer Respite Centre refuses to look after him because of his complicated high needs. This effectively means that he cannot go anywhere without one of us being with him.
Please provide the name, date and outcomes of any formal assessments of your condition.
Raphael was diagnosed with CHARGE syndrome by a Geneticist on 12/1/2007.
An Ophthalmologist stated that Raphael has "very limited or no useful vision in his left eye" (7/2/2007) and on 5/6/2007 another ophthalmologist advised us of another serious eye defect in Raphael's right eye that limits his field of vision in that eye.
Raphael has had a Barium Swallow on 17/5/2006 that identified significant gastro-oesophageal reflux and aspiration.
Raphael has had numerous audiological tests including ABR (Auditory Brainstem Response) and VROA (Visual Response Orientation Audiometry) tests to determine his hearing level. He has been classified as having a moderate to severe hearing loss.
Raphael had an MRI scan on 18/12/2006 that identified severe eye and ear malformations including complete deformity of the vestibular semi-circular canals (sense of balance).
Raphael has 25 medical professionals and 8 education professionals who look after his complicated case. We have a whole folder full of reports on his condition. I have summarised a very limited number of the reports here.
Medical professionals:
- Audiologist [RHH & Aus Hearing]
- Dietician
- Ear Nose and Throat Doctor (ENT) (x2)
- General Practitioner
- Geneticist
- Intensivist (x2) [RHH]
- Occupational therapist [CHC]
- Ophthalmologist (eye surgeon)
- Orthoptist [RHH]
- Osteopath
- Paediatric Anaesthetist (x2)
- Paediatric Cardiologist
- Paediatric home care nurse (x2) [RHH]
- Paediatric Surgeon
- Paediatrician
- Physiotherapist [CHC]
- Social worker [CHC]
- Speech Pathologist [RHH (x2) & CHC]
- Deaf/Blind teacher [RIDBC]
- Gross motor skills teacher [gymbaroo]
- Hearing consultant
- Occupational therapist [ELT]
- Physiotherapist [ELT]
- Speech pathologist [ELT]
- Teacher [ELT]
- Vision consultant [ELT]
Tuesday 14 August 2007
Losing power
Last night we had a live test of losing power while Raphael is connected up to his CPAP machine.
For some reason one of our electrical appliances acted up and tripped the safety switch that powers our house. The Oxygen monitor alarmed for just long enough to wake me up before its aged battery died. Floundering up from my deep sleep and trying to find my torch in the pitch black, I could hear Raphael starting to snore without the CPAP operating and so I knew that he was ok.
After calling our electrical provider and resetting our safety switch, I got back to sleep at 3:15am only to be awoken again at 3:45 by one, rather sad sounding, oxygen alarm beep as the power was cut off again. I reset the switch again and this time I was only awarded 15 minutes before the power failed again and now I couldn't reset the power switch without it immediately tripping. The next hour was spent by me hunting around the house turning off all of the power points I could think of, in my sleepy state, and resetting the safety switch. I had to try this several times until I had though of the device which was actually causing the problem.
I checked on Raphael every few minutes during this time but he happily slept through the whole thing, apparently oblivious to the lack of sleep that my concern for him was causing.
For some reason one of our electrical appliances acted up and tripped the safety switch that powers our house. The Oxygen monitor alarmed for just long enough to wake me up before its aged battery died. Floundering up from my deep sleep and trying to find my torch in the pitch black, I could hear Raphael starting to snore without the CPAP operating and so I knew that he was ok.
After calling our electrical provider and resetting our safety switch, I got back to sleep at 3:15am only to be awoken again at 3:45 by one, rather sad sounding, oxygen alarm beep as the power was cut off again. I reset the switch again and this time I was only awarded 15 minutes before the power failed again and now I couldn't reset the power switch without it immediately tripping. The next hour was spent by me hunting around the house turning off all of the power points I could think of, in my sleepy state, and resetting the safety switch. I had to try this several times until I had though of the device which was actually causing the problem.
I checked on Raphael every few minutes during this time but he happily slept through the whole thing, apparently oblivious to the lack of sleep that my concern for him was causing.
Monday 13 August 2007
Yucky ear
This morning I went to put Raphael's hearing aid in and I found a disgusting brown goo in his ear. Yes he has an ear infection and this brown goo is apparently what you get if you have grommets that allow it to ooze out. So we have more antibiotics to give to the poor lad: eardrops (sofradex) and the regular amoxycillin.It is also weighing day again so I weighed him while we were visiting the doctor surgery and he weighed 10.03kg. This is a respectable 210g gain since the last weighing but it is still a 270g loss since we started the trial.
Sunday 12 August 2007
Development notes
Raphael is cruising a bit more confidently now and sometimes he is willing to transfer his grip from the low table to another nearby object, but usually he will stay standing around the table until he is tired and then complains to us, because he doesn't know how to get down by himself. We have been trying to teach him how to get down but it is like trying to bend a plank of wood - except this one complains at us.
Cruising transfer:
Can't get Down:
He has become very eager to feed himself with a spoon and eat food that his older siblings are eating. This has posed a bit of a problem becuase he can now reach some of the food that his siblings eat and we have caught him putting food in his mouth on a number of occasions. Of course this makes him choke and vomit.
He is able to draw with crayons a bit now. Well by draw I mean that he can throw the piece of paper off the table and make a stripe and some hammered dots on the table where the paper used to be. This is usually followed by an attempt to chew the top off the crayon which, while isn't desirable in itself, is encouraging that he hasn't developed an oral aversion which is common in tube fed babies.
Cruising transfer:
Can't get Down:
He has become very eager to feed himself with a spoon and eat food that his older siblings are eating. This has posed a bit of a problem becuase he can now reach some of the food that his siblings eat and we have caught him putting food in his mouth on a number of occasions. Of course this makes him choke and vomit.He is able to draw with crayons a bit now. Well by draw I mean that he can throw the piece of paper off the table and make a stripe and some hammered dots on the table where the paper used to be. This is usually followed by an attempt to chew the top off the crayon which, while isn't desirable in itself, is encouraging that he hasn't developed an oral aversion which is common in tube fed babies.
Sick and hot
We measured his temperature as 38.4c on two occasions today. Panandol made him feel a lot better on both occasions but his fluid intake is well down today. His home care nurse visited and she recommended that we give him some gastrolyte to re-hydrate him a bit becuase he would not drink water or his Nutrini (formula). He is not dehydrated yet but of course we don't want him to become that way so I went to the chemist and bought some Hydralyte (which is a re-hydration fluid like gastrolyte). He was happy to take 60ml of that from a 20ml syringe.
Wednesday 8 August 2007
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:
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)
Monday 6 August 2007
Another weigh-in (9.82kg)
Today I weighed Raphael at 9.82kg. which is a loss of 380g. I am not entirely surprised because he has been sick, vomiting and not eating much over the last week. His appetite is still not good at the moment, so I don't know how the next week will be.
Friday 3 August 2007
Still sick
After a number of evening with high temepratures and a few visits from the home care nurses, I took Raphael to see a GP today. Although his ears were ok, a throat examination showed a pussy adenoiditis. He is on antibiotics now and the good news is that although we don't have the NGT to give him the medicine, he is willing to take it by mouth with no problems.
I assume that this is on top of his cold that his his two siblings and I also have, so even if the antibiotics fix his adenoids, he will still be miserable.
I assume that this is on top of his cold that his his two siblings and I also have, so even if the antibiotics fix his adenoids, he will still be miserable.
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