Friday, 20 June 2008
Monday, 16 June 2008
Raphael must have read the letter and decided to get sick again. Annie took him to hospital on Monday night... another 3 and half hours waiting in the department of emergency medicine (DEM). Near midnight Raphael was finally admitted to hospital because of sustained high temperatures that could not be explained.
Friday, 6 June 2008
I intend on detailing all of Raphael's medical conditions, one at a time, over a long period of time. I will be using the CHARGE acronym and "other findings" from "CHARGE Syndrome - a management manual for parents" as a topic template.
It takes me quite a while to compile the information that I have and research it so that I understand it all. Don't hold your breath waiting for each detailed description to be published.
If I update these posts with new/additional information then I will change the "post time and date" to make them current and appear at the top of the blog.
Medical areas covered:
- Raphael's eyes and vision
- Raphael's cranial nerves
- Raphael's heart
- Raphael's growth
- Raphael's development: physical and mental
- Raphael's ears, hearing and balance
- Raphael's other medical issues
Testing shows that Raphael is almost completely blind in his left eye but seems to receive useful vision from his right eye despite the deformities present in that eye.
Cranial Nerves (effecting swallowing and breathing):
Deformities in Raphael's nervous system effect a number of areas:
- His sense of smell (Olfactory nerve) may be effected (common in CHARGE syndrome) but this cannot be tested for yet.
- His eyes (see above),
- Raphael has a left facial palsy which is most obvious at his mouth when he his crying or smiling.
- There are visible problems with Raphael's left vestibulocochlea nerve; that is responsible for transmitting hearing and balance information to his brain (also see hearing and balance below).
- Raphael has an uncoordinated swallow (probably the result of a malformed Glossopharyngeal and/or vagus nerve). This means that he cannot swallow anything lumpier than a fine purée. Anything lumpier gets stuck at the back of his throat causing him to cough, gag and then throw up. The uncoordinated swallow also results in him aspirating his food and secretions into his lungs and has resulted in pneumonias where he has required hospitalisation. His bad swallow means that he does not clear his own secretions and so his nose is always flowing as though he has a heavy cold. The secretions have also caused the Eustachian tubes to block up resulting in the need to insert VT tubes (grommets) in his ears.
Raphael has a small Atrial Septal Defect (ASD) (two small shunts) although it has also been described to us as a patent foramen ovale (PFO). This is a minor condition and as many as 15-30% of adults have this and most don't even know about it.
Raphael was unable to take enough nutrients by mouth to grow at a normal rate. He used to take a small amount of nutrient rich formula during the day (by mouth) and at night he was fed the same milk while he sleeps by a nasogastric tube (NGT) and pump. He no longer uses an NGT and now drinks nutrient rich formula and eats pureed foods fortified with a nutritional supplement.
In addition he also suffers from gastro-oesophageal reflux which can lead to vomiting and/or aspiration.
Raphael was delayed and so receives early intervention, lots of parent repetition and one-on-one training with regards to vision, hearing, gross motor, fine motor and language (English, Auslan and Chinese). He is slowly catching up but it is a lot of hard work.
Ears and Hearing:
Raphael has a moderate to severe hearing loss that is currently being managed with hearing aids. Unfortunately his external right ear is malformed and it is difficult to get the hearing aid to fit well. His left ear has a more severe hearing loss having a substantial sensorineural component to the loss.
Raphael's Vestibule (Balance organ) is malformed and it is expected that this is not functioning at all. This means that he will have to rely on his vision (reduced as it is) and sense of touch (which may also be compromised in CHARGE affected individuals) to enable him to walk or do anything requiring balance. Despite this Raphael walked at 25 months.
As previously mentioned, Raphael's breathing is somewhat compromised by is uncoordinated swallow, it is also effected by tracheomalacia (floppy skin in airway).
When he sleeps he has short periods when he stops breathing all-together. To manage this he has a CPAP mask that he wears at night. His ears are low-set (which apparently is common in people with genetic disorders) and his head is an unusual shape; this makes it difficult to fit the mask on his head and frequently at night his CPAP machine alarms with a high leak error.
[Still need to confirm the medical side of this] Raphael's voice box has excess skin related to his tracheomalacia. I believe that his vocalisations are not age appropriate but I don't know whether it is because he is hearing impaired or whether the voicebox deformity has something to do with it. I suspect that a combination of both factors is reducing his ability to vocalise.
Wednesday, 4 June 2008
The "R" in CHARGE - Retardation of growth
The following are the details of what we know about Raphael's growth.
Raphael's notable growth and development issues consist of the following:
- Diagnosed with Failure To Thrive (FTT) on 30/11/2006.
- Endocrinologist is happy with growth and does not think that growth hormones is a good idea for Raphael, but would like to have a thyroid blood test done.
- "Significant gastro-oesophageal reflux" (barium swallow report 17/5/2006).
- Excessive pharyngeal milk and secretion residue. (ENT 11/5/2006). Contrast pooling was also noted in the barium swallow report of 17/5/2006. There are problems with the IX and/or X nerve (Paediatrician consultation 20/2/2007).
- Repeated hospitalisations.
- Cannot swallow anything lumpier than a fine puree. All feeds are fortified with complete feed supliments such as "Pediasure".
The following is my simplified understanding of the terms and/or concepts listed above:
- Failure to thrive is an extended period of time as a baby where poor weight gain and other growth deficiencies are noted. From Rapahel's growth charts up to one year old, you can see the points, indicating his weight, curving away from the normal growth spectrum. In addition you can also see the length and head circumference charts also dragging away below the bottom line. Weight is the first statistic to drop when a child is not getting sufficient caloric intake, once length and head circumference are also exhibiting prolonged reduced growth then there is good reason to find a way to get more sustenance.
- A baby should grow normally if provided with the appropriate sustenance (including calories). But babies with growth hormone deficiency can exhibit a number of possible effects from having this problem (which include not growing normally). At this stage there are no signs that Raphael has growth hormone deficiency but because he is in a group that is at risk, he will continue to be monitored.
- Gastro-oesophageal reflux is usually seen as vomiting, but it refers to the chronic condition where stomach contents occasionally (or frequently) escape the stomach back up into the oesophagus (throat).
- Food, fluids and Raphael's own secretions pool at the back of his throat because he is unable to swallow them properly. In addition to this if he eats anything that is lumpy or not fluid enough then the food that gets stuck at the back of his throat agitates him causing a vomit reflex.
- Raphael has a number of medical problems requiring him to stay in hospital and be subjected to medical procedures.
- All of his feeds have extra calories and nutritional supplements added to them to ensure that he gets the right amount of nutrition and energy in his diet.
- Need to increase calorie intake
- Here are the steps taken to attempt to increase calorie intake:
- Introduced strict feeding regime to maximise number of feeds during the day.
- Attempted additional breast pumping to increase milk supply.
- Attempted supplying entirely pumped milk with added human milk fortifier to increase the calories.
- Tried a variety of bottle teats to try to find one that Raphael could drink from the most easily.
- Fortified human milk with formula for additional calories.
- Special formula "Infatrini" started on 4/12/2006. Migrated to "Nutrini - high energy multifibre" while in hospital in May 2007.
- NGT fitted on 4/12/2006 for supplemental overnight feeding through NGT
- An NGT is a short term solution and he used one for a long time. It was planned to insert a "mic-key button" g-tube as a more permanent solution but on 9/7/2007 we removed the NGT to see if he would grow without it and after two shaky months he started to gain weight properly by himself.
- Reached blue book "3 percentile line" around April 2007.
His growth is ok at the moment and is improving each time we weight him. He is now putting on weight with fortifeid feeds and no longer requires tube feeding.
Raphael will have a thyroid blood test in the future.
Tuesday, 3 June 2008
The following are the details of what we know about Raphael's eyes and eyesight.
Raphael's notable eye conditions consist of the following:
- Large right eye compared to his left eye (13/10/2006 - ophthalmologist).
- Corneas (13/10/2006 - ophthalmologist) are measured as:
- 11.5 in the right eye (at the upper limit of the normal range);
- less than 9 in the left.
- right 13/10/2006 (opthalmologist): 19mmHg
- left 13/10/2006 (opthalmologist): 14mmHg
- right 16/1/2007 (opthalmologist): 23mmHg (no evidence of glaucoma)
- right 17/4/2007 (opthalmologist): 21mmHg (no evidence of glaucoma)
- left 17/4/2007 (opthalmologist): 18mmHg
- right 18/4/2007 (opthalmologist - under GA): 15mmHg
- Essentially normal right eye;
- Microphthalmic left eye with posterior staphyloma and excavated morning glory type disc. [the MRI report 18/12/2006 confirms this staphyloma]
The following is my simplified understanding of the terms and/or concepts listed above:
- I suspect that Raphael's right eye is larger than his left becuase of the microphthalmic (genetic small eye) condition of his left eye (see point 6).
- The cornea is the transparent covering over the pupil (black bit) and iris (coloured bit) of an eye. The coloured bit of Raphael's eye is larger than the coloured bit of his left eye.
- intraocular pressure is a result of fluid in the eye. The normal range of this pressure is between 10mmHG and 20mmHg (mmHg is a measurement of pressure, see Torr). Raphael's right eye is at the upper limit of acceptable pressure. Under General anaesthetic another reading was taken that shows that there isn't a pressure problem. The readings that are taken under GA are much more reliable because normally the eye is squeezed to take the test which can give a higher reading than the actual pressure).
- His right eye is mildly far sighted.
- A retinoscopy is an objective method of examining some aspects of vision, it does not rely on a patient's response. a retinoscopy showed that the mechanics of his left eye have some myopia (short sightedness).
- His left eye
- is small (microphthalmic) and underdeveloped;
- has a posterior staphyloma: bump on the back of the eye;
- has a morning glory disc: a large gouge where the optic disc is (in the internal part of the eye ball where the nerves converge). A morning glory disc is a specific type of optic disc coloboma. Colobomas are common CHARGE syndrome features. I don't have a photo of Raphael's morning glory disc but I have sketched what I think it might look like. With permission, I have also included a scan from the Australian CHARGE association handbook that describes the parts of an eye with a coloboma; and there are some great photos of them here if you want to see what they actually look like in other patients.
- . .
- . .
- I don't think that there is any inherent problem with Raphael having his right eye larger than his left eye, except in this case the smaller eye is microphthalmic (see point 6).
- I am not aware of any implications of the retinas being different sizes (right larger than left).
- High intraocular pressure (fluid pressure in the eye) is called ocular hypertension. The risk associated with ocular hypertension is that it can lead to glaucoma which is the loss of retinal ganglion cells (nerve cells). This can in turn can lead to blindness. Because Raphael's right eye ( his only good eye) is at the higher end of normal pressure range, it is important to get his eyes checked regularly in case the pressure builds up.
- Far sightedness in his right eye can be corrected with glasses but isn't necessary at this stage.
- The short sightedness of his left eye could be compensated for with corrective lenses.
- Left Eye:
- Some potential issues of his left eye microphthalmia can be mitigated with "Lens correction for refractive errors, often tinted; lighting according to needs, to control glare" (source: spedex)
- Raphael's left eye staphyloma is the obvious external sign of the morning glory disk inside his eye. The staphyloma itself is not large enough to cause any mechanical problems; it is the internal component (coloboma) which has the implications.
- Raphael's the morning glory type disc (coloboma) is so large that it prevents vision in the upper/central and sides for his left eye (including his macula and fovea). Some simple experimentation while putting an eye patch over his right eye demonstrates that he can only see toys as they enter the lower central field of vision. Further testing at 26 months reveal that his left eye vision appears to be suppressed when his right eye is not patched. When his right eye is patched he has enough left eye vision to allow him to walk and manipulate medium sized objects with ease. Colobomas cause an increased risk of retinal detachment. Detachment is disastrous for vision and can only be detected by expert examination or changes in eyesight for the person affected.
"he has very limited or no useful vision in his left eye" (2/2/2007 - opthalmologist). At this stage is appears that Raphael has little practical vision in his left eye and his right eye also may have vision problems in the upper field and is mildly far sighted.
We have been told that nothing can be done to correct the vision problems with his left eye, but there is a good chance that he will have reasonable vision out of his right eye with corrective lenses if necessary.
I have not given up all hope for his left eye yet because I know that he has at least some vision in that eye.
Practical Tests by Behaviour at about 1 year old
Annie and I have performed some practical tests on his eyesight by eye patching each eye in turn and trying to see what he can see by introducing interesting objects into his field of vision.
His right eye seems to have an excellent field of vision and it appears that he can spot toys in the centre, high, low, left and right. He also responds (smiles) to a person who smiles when they are five metres away.
His left eye is hopeless compared to his right. When his right eye is covered he pulls back as though he has been blinded and pulls at the eye patch to try to remove it. This is a very different reaction to when his other eye was covered. His left eye field of vision seems to be very poor. He can only sight toys as they enter the lower central field of vision. He does not respond to anything presented in the centre, top, left, or right of his vision.
When not eye patched and looking up his right eye tracks an object well, but his left eye rolls back and is clearly not even centred on the target at all.
Sunday, 1 June 2008
The following are the details of what we know about Raphael's ears.
Raphael's notable ear conditions consist of the following:
- "The vestibule is enlarged and only 1 hypoplastic semi-circular canal is identified" (MRI 18/12/2006 and confirmed in CT 18/4/2007). I believe that this finding is bilateral.
- Vestibule aqueducts could not be identified (CT 18/4/2007)
- "on the left side there is soft tissue density material within the middle ear, possible congenital choleseatoma" (CT 18/4/2007). Physical examination by ENT before and after CT scan shows no corroborative evidence of this.
- ABR tests (summarised by audiologist 18/4/2007) reveal that the right ear has a predominantly conductive haring loss whereas the left ear has a predominantly sensorineural hearing loss.
- VROA tests show functional hearing as:
- 50-60db loss in his right ear
- 90-100db loss in his left ear
- "bone conduction testing indicates Raphael's hearing loss is conductive in at least one ear" as bone conduction tests gain responses from sounds as low as 15db at 1000Hz and 4000Hz
The following is my simplified understanding of the terms and/or concepts listed above:
- The vestibular semicircular canals are responsible for the sense of balance. As Raphael only has one on each side and they are hypoplastic (underdeveloped), this mechanism is not giving him any input as far as balance in concerned.
- The passage through the bone that normally holds the vestibular nerve could not be seen, suggesting that no information from the vestibule is being transmitted to the brain.
- The CT scan showed some evidence that there could possibly be congenital cholesteatoma in Raphael's left middle ear. However the ENT said that she did not see any sign of a cholesteatoma and, in addition, the left ear was fluid filled which can appear to be skin on a CT scan; so she does not believe that Raphael actually has a cholesteatoma.
- Raphael's hearing loss (determined by Auditory Brainstem Response test) in his right ear is mostly conductive which means that there is a problem with the outer and/or middle ear which is reducing the effectiveness of his hearing. Raphael's left hearing loss is mostly due to sensorineural problems which means that there is a problem with his cochlea or nervous system transmitting the information to his brain.
- Raphael's hearing loss determined by a VROA (Visual Reinforcement Orientation Audiometry) test shows a moderate to severe hearing loss.
- With no sense of balance Raphael will be (and is) delayed in gross motor skills. Raphael is likely to walk late and require physiotherapy and mobility training to help him in navigating routs that other people don't have to think about. Raphael started walking exclusively at 26 months.
- Erroneous vestibular nervous information can make the afflicted person very sick with motion sickness so, because Raphael's vestibule is malformed, it may be a good thing that Raphael's vestibular nerve is absent.
- Because of the hint of cholesteatoma, Raphael will need to be monitored regularly to make sure that there is no abnormal growth in his middle ears.
- Conductive hearing loss can often be resolved by the insertion of grommets, but this has unfortunately not resolved Raphael's hearing problems. Raphael's conductive hearing loss component could be bypassed by fitting a bone conduction hearing aid but this solution is not perfect. Little can be done to resolve sensorineural hearing loss short of a cochlea implant, which would be more damaging to Raphael than productive.
- The general hearing loss is being addressed by fitting hearing aids while he is awake. Repeated visits to the audiologist are required to make new moulds as he grows rapidly. His abnormal right ear is also creating challenges in fitting his hearing aid successfully to prevent feedback.
Raphael had gormmets inserted on 18/4/2007 and hearing aids fitted shortly afterwards. He wears his hearing aids all the time while he is awake. The exception to this is that we take out his right hearing aid sometimes because it causes a lot of feedback (hich pitched squealing). The problem is that his outer ear is not the right shape and does not have all of the same cartilage that is normally present and able to be used to anchor a hearing aid in.
Raphael is still underdeveloped with regards to his hearing ability. Even though he is receiving amplified sounds, meaning that he should be hearing the same as any other baby of the same age, he has been without an adequate level of sound thus far and his brain has not yet developed the skills to learn how to hear. A hearing specialist is teaching us how to teach Raphael to use and develop his hearing and so we are confident that his hearing will improve.
Raphael's equilibrioception (sense of balance) is hampered by not having a functional vestibular system. Without this, Raphael has to rely on eyesight and proprioception (muscle, skin and joint feedback) to maintain his balance. Raphael finds it difficult to maintain his balance and he often falls over; more so than others of his age.
The other "R" in CHARGE - Retardation of development
The following are the details of what we know about Raphael's development:
- It is noted that Raphael's brain appears normal from an MRI scan (18/12/2006)
- Sensory problems are noted with:
- Hearing from ABR (Auditory Brainstem Response) tests and VROA (Visual Reinforcement Orientation Audiometry) tests. See Raphael's ears, hearing and balance for detailed information.
- Vision because of bilateral colobomas in his eyes. His vision in his left eye is nearly non-existent but he seems to receive very useful information in his right eye. See Raphael's eyes and vision for detailed information.
- Balance from malformed vestibules with only one hypoplastic semicircular canal. Practical experiments show him to slow or no response to to unbalancing circumstances. See Raphael's ears, hearing and balance for detailed information.
- Gross motor development
- Language development
- Fine motor development
- Intellectual development
- A normal appearing brain is not necessarily a guarantee of normal mental and physical development but it is an encouraging sign.
- Raphael's sensory problems are likely to delay his development until he receives technology to help compensate for his sensory problems or until he learns to compensate for one sensory loss by using information from another sense.
- Raphael has been fitted with hearing aids and frequent visits to the audiologist are necessary to continue to try to resolve the problems with feedback that we are having with his right ear. The problems are probably due to the lack of definition in his right ear which make it difficult to find anchor points for the hearing aid.
- Sadly there is little that can be done for the lack of vision in one eye. If, in the future, Raphael demonstrates that he has some useful vision in his left eye then it may be appropriate to place a patch over his right eye for short periods of time to force his brain to analyse the data coming from his left eye.
- Poorly developed balance organs mean that Raphael will have to use different senses to compensate for the lack of balance organs (vestibular semi circular canals). Physiotherapy will play a big role in training his other senses.
Thanks to lots of stimulation, Raphael is developing well considering his sensory problems; he has even started to walk at 26 months and has a vocabulary of about 15 Auslan signs. It is encouraging that our hard work is helping him developing well, but this is a double edged sword. It means we need to continue to work hard on his therapies even though we feel drained from the endless appointments and hospitalisations.
The following are the details of what we know about Raphael's nerves in his head.
Raphael's notable cranial nerve conditions consist of the following:
- Nerve I - Olfactory nerve - cannot be tested satisfactorily at this age. No comments were made about this nerve on the MRI report.
- Nerve II - Optic nerve - Raphael's "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI 18/12/2006).
- Nerve VII - Facial nerve - facial palsy evident. "I strongly suspect that infact the facial nerve on the left in congenitally absent." (MRI 18/12/2006). The CT scan (18/4/2007) identifies the facial nerve canals bilaterally.
- Nerve VIII - Vestibulocochlear nerve - There appears to be problems within Raphael's left IAM: "on the left side there appears to be one larger (vestibular) and one smaller (cochlear) nerve" (MRI 18/12/2006). The CT scan (18/4/2007) identifies a normal cochlea aqueduct but does not identify a vestibular aqueduct bilaterally.
- Nerve IX and X - Glossopharyngeal and vagus nerve - Uncoordinated swallow indicates some problems with these nerves. No comments were made about these nerves on the MRI report.
The following is my simplified understanding of the terms and/or concepts listed above:
- The Olfactory nerve is used for olfaction (the sense of smell). CHARGE syndrome can result in this nerve not working properly. It is not known whether Raphael has a sense of smell and this probably cannot be reliably tested until he is about 8 years of age.
- The optic nerve is used for sight. I suspect that hypoplasia (incomplete development or underdevelopment) of Raphael's left optic nerve is related to the problem with his left eye.
- Raphael has a left facial palsy (paralysis) due to a possibly absent nerve. The canal through the bone can be seen on the CT scan suggesting that the nerve is actually present. Usually if the canal is there then the nerve is also there.
- Raphael's left IAM (internal acoustic meatus) canal (which carries the vestibulocochlea, autidory, or acoustic nerve and the facial nerve) appears to be small. This canal normally carries three nerves, the cochlea nerve, the vestibular nerve and the facial nerve. the cochlea nerve is responsible for transmitting sound information from the cochlea to the brain. The vestibular nerve transmits balance (or positional) information from the vestibule (part of the middle ear) to the brain and the facial nerve controls the muscles in the face. According to an MRI scan Raphael's left vestibular nerve appears to be the correct size but the cochlea nerve appears to be small and the left facial nerve appears to be absent. But according to the CT scan the cochlea and facial nerves appear normal and the vestibular nerve is absent.
- The glossopharyngeal and vagus nerves together, and amongst other things control the swallowing function. It is assumed that Raphael has problems with these nerves becuase of his inability to clear his own secretions in his pharynx (back of this throat).
The Implications of These Conditions
- If Raphael has a lack of olfaction then this can result in different desires for food and potentially social problems later on in life.
- See Raphael's eyes and vision for comments on the optic nerve hypoplasia.
- It is unknown what effect Raphael's left facial palsy will have on him at this time. It is possible that this can result in difficulty eating (as food may escape the mouth), but this is usually only the case when the palsy is bilateral (on both sides). It is also possible that the palsy will effect his speech.
- The nerve problems with his cochlea can effect his hearing. I will be more thorough on this topic when and where I compile the information on his ears. Nerve problems with the vestibule effect his sense of balance.
- His dysfunctional swallow causes a few problems:
- He is unable to properly swallow anything lumpier than puréed sweet potato. Even Mashed potato is too lumpy for him. non-smooth foods will cause him to start to cough which leads to vomiting.
- He tires quickly and gets frustrated when eating, making it difficult to provide him with the necessary intake of food to make him grow. He has been fitted with an NGT (nasogastric tube) to provide supplemental feeding overnight to compensate for his poor intake during the day. An NGT is only a temporary measure, if he is unable to start to feed normally by himself then ultimately he will need to have a PEG (Percutaneous Endoscopic Gastrostomy) tube. This may also require a nissen fundoplication (fundo) to reduce the risk of gastroesophageal reflux (like vomiting).
- He cannot swallow his own secretions properly. This results in gurgley breathing and a constant flow of mucus from his nose. Uninformed observers would think that he has a heavy cold because of the amount of mucus that comes from him. If he has eaten anything recently then the secretions are the colour of that food (can be very funny). Suctioning can remove the mucus but the mucus flow is back again within half an hour (closest web reference to suctioning I can find is here). He doesn't seem to be bothered by the mucus.
- The mucus constantly makes his face damp. This used to moisten the tape that held his NGT (nasogastric tube) down and makes it more likely for him to be able to pull his NGT out. He has no tube now as weight gain is adequate without soon.
- Increased risk of aspiration pneumonia. Aspiration pneumonia is an infection of the lung due to foreign material (which can include his own secretions) entering the lung. although antibiotics can be very effective in removing the infection, repeated aspiration pneumonia can result in scarring of the lung which permanently damages areas in the lungs functionality.
- The secretions that are constantly in his throat prevent the fluid in his ears from draining properly through the eustachian tube and results in chronic glue ear. This directly causes conductive hearing loss because the build-up of fluid behind the eardrum prevents it from vibrating with sound waves normally. An operation, to insert grommets to drain this fluid, can be performed to rectify this problem; but grommets are self ejecting after 6-12 months and so the operation may need to be repeated a number of times.
- At this stage we don't know if Raphael has a sense of smell.
- His left facial palsy does not seem to cause him any problems at this stage.
- His left eye nerve probably does not provide him with useful vision.
- His left ear nerve has decreased functionality but still provides some hearing ability.
- His swallowing problems have previously resulted in the need for supplementing his feeding with an NGT. There were plans for a PEG, but a successful oral feeding trial has removed the need for any tube feeding.