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This page is dedicated to our son Joshua Martineau who was born with kabuki syndrome and has blessed our lives in ways unmeasurable. He is an inspiration and a blessing. I created this page to help people understand more about kabuki syndrome and how it affects our son.I will update the page periodically as Joshua's journey progresses.Thank you God for this gift we call Joshua.
Joshua was born as a full term baby on March 21st 2001 by emergency c-section when his heart rate began to drop durring labour and delivery.It was evident at birth there were some difficult times ahead. I am listing bellow the medical and developmental issues Joshua faced as well as those he is still dealing with.
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CLEFT SOFT PALATTE: Joshua was born with this condition which was surgically corrected earlier than most. The correction was done at 6 months of age. The reasons for the early intervention was to hopefully help Joshua learn to suck and therefore drink. He had no ability to suck when born and the learned ability was not achieved because he needed surgery after surgery and thus was not fed by normal means but rather by IV. By the time we were able to introduce my milk into his diet, the instinct to suckle was completely not present. By this time Joshua had what is referred to as infantile anorexia. He did not know what hunger felt like or what instincts he needed to know when to eat or drink or feed in any way. As a result of all this, Joshua was fed by NG tube for his first year of life until we could establish his instinct to want to eat solids and learn to know he was hungry and co-ordinate to eat on his own. We tried various methods to teach him to eat including a squeezable baby bottle which was basically force feeding him milk and forcing him to learn to co-ordinate a swallow while drinking. This method was not as successful as we hoped and now as a result, Joshua tends to gulp his drink when not using a sippy cup. It is still not yet known if the surgical closure of the cleft was sufficient to help in speech abilities. Joshua is speech delayed and we are working with a speech pathologist at Chedoke from the cleft palate team there. We have decided to give Joshua at least 6 months to make more improvement in his speech before doing more invasive testing to see if he will need more surgical correction on his pharyngeal flap at the back of his palate. The closure there may still be inadequate for Joshua to properly learn how to form some sounds for speech.
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IMPERFORATED ANUS: (no anal opening) one had to be surgically created for him. Fortunately his rectal muscles and anatomy were present and in tact.
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HYPOSPADIUS:Hypospadias is a birth defect found in boys in which the urinary tract opening is not at the tip of the penis. Bending of the penis on erection may be associated and is known as chordee. Hypospadias occurs in about 1 in 100 to 1 in 200 boys. There are different degrees of hypospadias, some minor and others more severe. We name the types of hypospadias according to their anatomic location. In layman's terms. The opening in Joshua's penis is larger and not in the typical place.His is a mild case but still affects how he urinates.No surgical intervention was needed in his case as of yet.
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MALROTATED BOWEL: (twisted bowel). This was also surgically corrected at 4 days of age. During this procedure the surgeon used Joshua’s appendix to tack the bowel into place so now Joshua’s appendix is on the left instead of his right. If Joshua ever complains of pains on his left side, appendicitis will have to be considered.
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PATENT URACUS: Bladder tissue herniated through his umbilicus. At just over two weeks of age, Joshua started urinating through his belly button as his umbilical cord started to dry and separate. The tissue was surgically removed and cosmetic surgery was done to give Joshua a more attractive naval as the one he was born with was the size of a $2 coin.
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KIDNEY ISSUES:Joshua was born with only one kidney on his left side. The right kidney never developed at all. It is just not present.While I was pregnant, his kidney was malfunctioning causing my amniotic fluid to be dangerously low. I ended up on bed rest for a month until we could determine that it was Joshua’s kidney and not a leak in the amniotic sac.
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DANDY WALKER VARIANT: Joshua was diagnosed with a cyst on his cerebellum that could have caused hydrocephalus but we were blessed with a miracle after much prayer. Subsequent tests revealed that the cyst had disappeared.There is now a space where the cyst used to be. We know that not everyone believes in miracles or a Christian God but we do and feel we have been given proof in Joshua’s life. This would not be the last of the miracles for Joshua.
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ASD- ATRIAL SEPTAL DEFECT: This is a hole in Joshua’s heart. In some cases surgical intervention is needed to close the hole but in many cases the hole will gradually close on its own if the hole is not too large to cause trouble. Joshua’s ASD seems to be closing on its own. Joshua has had follow up heart testing which shows that he has no murmurs at this time though we will need to keep monitoring him once a year or sooner if symptoms arise for heart difficulties as he grows.
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ENLARGED ARTERY TO THE HEART: It was discovered when Joshua was a year or two old that one of the arteries to his heart was growing at a rate that was disproportionate to his heart. It was enlarged and could cause health issues if it continued to grow. Once again, after prayer, future tests at Toronto Hospital for sick children by a respected cardiologist revealed that the artery had healed and returned to a normal size. Joshua’s most recent heart follow up however revealed that a different artery to Joshua’s heart has now begun to be enlarged. We will be monitoring this and doing future tests in about a year. It is not in a life threatening state at this time and for now is no cause for concern. Also during recent testing at Mc Master Medical Centre it was discovered that one of the chambers to Joshua’s heart that should be smooth has a slightly serrated surface. The defect is mild and of no concern at this time according to the cardiologist but will need to be monitored in a year to see if the condition has worsened. As stated before…Joshua has no murmur and his heart is functioning as it should.
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SPINAL DEFECT: Joshua was born with a very small opening in his T-10 vertebrae. This opening could have developed into full blown Spina bifida but fortunately did not and doctors believe that the defect does not affect Joshua in any way to be concerned about.Some would diagnose this as something called “Spina bifida occulta.”
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HYPERTONIA: after some of the more serious issues were dealt with when Joshua was born by the appropriate specialists we discovered that Joshua was unable to straighten his legs. Hypertonia is a condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch .We did physiotherapy several times daily to treat and correct the condition. Joshua now has full range of motion in his legs.
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HYPOTONIA: involves decreased muscle tone. Infants with hypotonia seem floppy and feel like a "rag doll" does when held. Hypotonia is often a sign of a worrisome abnormality and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorders. In Joshua’s case it is directly linked to his genetic condition of kabuki syndrome to cause weak and floppy muscles. This also causes Joshua to be extremely double jointed. Joshua can turn his feet almost all the way around without any discomfort and touch the backs of his hands together directly behind his back ( shoulder blades) This condition also contributes to Joshua's next condition with his feet.
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PRONATED FEET: To pronate is to turn or rotate the foot inward so that the inner edge of the sole bears the body's weight. The right way for the foot to land is to hit the ground heel first. Body weight is then passed along by the arch toward the outside of the foot and upward to the ball of the foot. A pronated foot is one that rolls inward when walking or running and does not properly pass the weight over the foot. This creates a biomechanical problem that stresses the foot and lower leg. The knee and hip are affected as well because of the inward rotation of the leg. People with pronating feet are at risk for developing overuse injuries, such as ankle and Achilles tendonitis, shin splints, heel and kneecap pain, and heel spurs. People who have excessive pronation are said to have flat feet. They are particularly sensitive to overuse injuries such as stress fractures and tendonitis. The problem of pronation or 'flat feet' will not go away for you were most likely, born with it as was Joshua. He wears orthotics for his condition and will likely need to wear them for most of his life. He needs a balance of time with and without orthotics so that the muscles and bones of his feet both have ideal conditions to develop in a healthy way. Joshua will need to wear his orthotics when ever he is away from home including school time to achieve this balance.he also needs to wear them during some of his home times. He is required to wear them most of the time to help proper bone development in the feet. The time spent without wearing them is meant to allow proper muscle development.
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HEARING LOSS: Children born with cleft palates also tend to be prone to frequent ear infections. Joshua has had several and as a result has had need to have myringotomy tubes inserted into his ears. His current set has fallen out but they have left holes permanently scarred in his ears where the tubes used to be. Insertion of ear tubes is a 10 minute surgery and quite common.Joshua has had three sets to date. He will may need future sets inserted as long as he continues to get chronic ear infections. The catch with the tubes is that they help prevent but not completely eliminate infections to avoid hearing loss but the scar tissue from repeated surgeries to insert the tubes can also cause hearing loss. Joshua has some mild hearing loss in his left ear as well as even more slight loss in his right ear. As many children do…he also suffers from selective hearing when he is distracted so it can at times be difficult to know if he is ignoring you or actually having difficulty hearing you. For the most part, Joshua seems to hear us fine but there are times where we question his hearing ability in certain situations .At present, Joshua has enough hearing loss that he requires a hearing aide for his left ear. Because of the holes left from the ear tubes, it is important to not get water in Joshua’s ears. We continue to have Joshua’s hearing tested every 4 months Joshua will also be using an FM system in school soon( perhaps not until September 2007 ) to help him hear what his teacher is saying to the class.
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LOW SET EARS: Joshua’s ears are actually almost an inch lower on the side of his head than they should be. The cartilage in his ears is also soft and floppy and will remain this way for life. As humans grow, the cartilage in our ears firms up and hardens giving our ears a stability and stiffness. Joshua will never have this. His ears will remain very pliable and floppy. At this age the floppy ears are very cute and we love him just the way he is. Unfortunately, kids and even some adults can be cruel so we will be having his ears surgically corrected (pinned)on August 27th , 2007. We have seen pictures of older children who have not had the correction done and we as his parents have decided that Joshua deserves to have the opportunity to go through his childhood (particularly his teen years) with out the teasing that could arise from this feature. Joshua has endured so much already in life that if we can make this one thing easier for him in life, we feel we should.
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OCULAR EXOTROPIA: This refers to an outward deviation of the eyes. Exotropia is a type of strabismus. Strabismus refers to any misalignment of the eyes. Joshua will be undergoing surgery some time this year to correct the misalignment of his eyes. This surgery will be cosmetic only and will only correct his vision slightly if at all. We were told by Dr. Patricia Harvey at Mc Master Medical centre that vision correction was not likely in Joshua’s case. Dr. Harvey told us that Joshua has no binocular vision and no depth perception. This condition combined with his other issues such as his pronated feet and hypotonia makes it difficult for Joshua to play safely and therefore, he needs someone to watch him in many play situations...particularly in the play ground.A a result of this condition coupled with his other issues such as hypotonia and hearing loss, Joshua loses his balance and stumbles easily. He bumps into things and falls frequently.
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ASTIGMATISM: Usually it is caused by an irregularly shaped cornea (called corneal astigmatism). But sometimes it is the result of an irregularly shaped lens, which is located behind the cornea; this is called lenticular astigmatism. Either kind of astigmatism can usually be corrected with eyeglasses, contact lenses or refractive surgery. Astigmatism causes blurred or distorted vision . Unfortunately, astigmatism can affect children and their ability to see well in school and during sports.Astigmatism occurs when the cornea is shaped more like an oblong football than a spherical baseball, which is the normal shape. In most astigmatic eyes, the oblong or oval shape causes light rays to focus on two points in the back of your eye, rather than on just one. This is because, like a football, an astigmatic cornea has a steeper curve and a flatter one.
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SEIZURES: Joshua has been tested for seizures twice (once recently) which has shown seizure activity. Kids affected with kabuki syndrome are more prone to seizures. I am in contact with one woman in her 20s with the syndrome who has had seizures most of her life and now treats and deals with 23 different kinds of seizures. It is suspected that Joshua most likely experienced what is called a RAS (Reflex Anoxic Seizure) when he was 2 and a half years old. This he turned white dropped to the floor, his eyes rolled into his head and he came to and then vomited. Joshua's seizure activity has been mostly absent seizures but they have been increasing in frequency and severity as of late.Also, Joshua has recently begun exeriencing what we beleive are runnign tantrum seizures also known as screaming seizures.This is not behavioural and joshua has no control of it. They arevery disturbign and no discipline can calm him when this occurs.They have been known to last as short as 2 minutes and as long as 40 minutes.
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REFLEX ANOXIC SEIZURES occur mainly in young children but can occur at any age. Any unexpected stimuli, such as pain, shock, fright causes the heart and the breathing to stop, the eyes to roll up into the head, the complexion to become deathly white/grey, often blue around the mouth and under the eyes, the jaw to clench and the body to stiffen, sometimes the arms and legs jerk. After 30 seconds or so, the body relaxes the heart and breathing resume and the person is unconscious. One or two minutes later the person may regain consciousness but can remain unconscious for well over an hour. Upon recovery the person maybe very emotional and then fall into a deep sleep for two to three hours and looks extremely pale. RAS attacks may occur several times a day / week / month. The attacks sometimes appear to come in batches. Unfortunately, because of the symptoms, it is known that RAS is often mis-diagnosed as temper tantrums, breath holding or as epilepsy. There are two different types of RAS seizures. There are white seizures which is what we believe Joshua had and blue seizures. In a blue seizure the child can appear to be dead.
We also feel Joshua may be experiencing absent seizures. He has shown the symptoms of absent seizures since he was an infant. He will completely zone out. Even waving your hand in front of his face will not bring him out of it. Joshua is not on any seizure medications as his seizures are only suspected and no seizures have occurred during testing. The types of seizures we believe he may have experienced are mild and no medication has been recommended for him at this time.
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TACTILE DEFENSIVENESS: Joshua has a fear of certain textures and touches. We have been offering him Occupational therapy to help him over come his tactile defensiveness. Joshua would not play in a sand box for many years so we have been working towards getting him to happily touch textures similar to sand and I am happy to report that Joshua now looks forward to playing in the pea gravel at the park and in the sand at the beach. We have already made strides in this area and Joshua is now even eating food( with slight to medium resistance that we could not even get to his lips before. Joshua also has a phobia of water when it comes to hand washing and hair washing. He needs encouragement to wash his hands most times but he also does not like getting sticky textures on his hands such as finger paint. He refuses to touch finger paints and will have a panic attack if he thinks you will force him to touch a texture he is afraid of or does not like the feel of. That said…we are still working toward helping him overcome this.
He is also defensive from certain food textures which include most fruits and vegetables. Improvements have been made in this areas as well but Joshua would still prefer not to eat fruit and veggies at all unless they are hidden in a food or pureed such as applesauce which is actually one of his favourite snacks. Apple sauce and bananas are the only two fruits he will happily eat without being coaxed. Joshua will not eat anything slippery or slimy such a canned peaches or Jell-O. He also does not like rubbery texture like cooked broccoli and he will not eat anything hard or too crunchy like hard cookies (cheap store bought oatmeal cookies for example) he also won’t eat lollipops or any hard or chewy candy. The only candy Joshua will eat is chocolate. Gummy bears and fruit roll ups are a definite no no for him as far as texture goes.
When washing, Joshua dislikes the use of soap though he is made to use it at home for obvious cleanliness reasons. He prefers it when we use a rougher wash cloth. Many kids with kabuki syndrome strongly dislike soft touch. To them, it is like torture. Joshua will tolerate soft touch happily from me (his mother) but prefers a firm hug to a soft one. He loves being tickled but hates it when you stroke his back or his head in a soft loving way. This soft touch irritates him. He will at time completely freak out when we are trying to wash his hair. Though hair washing is nothing to us, it is sheer torture to him in a very real sense.
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O.C.D.-OBSESSIVE COMPULSIVE DISSORDER: Joshua will obsessively repeat words, phrases and questions literally asking or saying the same thing up to 20, 30 or even 50 times no matter how clear you made the answer for him. We do not like to indulge him in this. Once he has been given an answer to a question once or twice and then continues to ask the same thing , we will then ask him to repeat to us what we told him the answer was instead of answering it ourselves yet again. O.C.D behaviours are difficult to change but we are making every effort to try to teach Joshua socially acceptable behaviours.
Joshua will also shriek as a form of laughter. He will sometimes do this obsessively to stimulate himself. Though we love hearing our child laugh ( he is a happy child) we discourage the random shrieking. It can be quite grating when allowed to continue in an obsessive manner particularly at inappropriate times. Joshua loves to laugh but when allowed he will shriek in a high pitched tone in place of a laugh. The first time he does it , it is cute but trust me..when you hear him shriek frequently in a day, it will not be so cute. This is a behaviour that he is more prone to at home though it has occurred at his old school to a lesser degree.He also exhibits other OCD behavious that are also a self stimulation tactic such asa constant need to move or to tear paper. He will also walk around playing with paper or plastic all day if we allow him to. We have solved one issue( tearing paper) by giving him a tray full of old news papers in his room and placing a swing lid garbage can in his room to place the torn paper in. he also obsessively likes to throw things in the trash so this solution satisfies two OCD ans stimulation needs for him. Since implementing this tool, Joshua’s room is much cleaner. Though pieces of paper do occasionally make it onto the floor, we are not as concerned because his books are no longer being torn u p. Joshua is not a distructive child with anything but paper.
Need for stimulation: Joshua loves to stimulate himself by being in almost constant movement. He is therefore very fidgety. He has a hard time sitting or standing still. He will also obsessively carry around a book , a toy or a piece of paper. Most frequently, as previously stated, it is a piece of paper or plastic. He will wander around the house swinging the paper or plastic back and forth. He will also stimulate himself with obsessive chewing which we discourage unless he is chewing an appropriate object like the chewy tube given to him by his occupational therapist to improve mouth strength and co-ordination. I may at times send his chewy tube to school with him. This tube can be very calming for him. We do not allow him to chew on toys or other objects…just his chewy tube. He has learned to chew only his chewy tube.
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DYSPRAXIA: Symptoms
People who have dyspraxia often find the routine tasks of daily life such as driving, household chores, cooking and grooming difficult. They can also find coping at work is hard. People with dyspraxia usually have a combination of problems, including:
Gross motor co-ordination skills (large movements):
Poor balance. Difficulty in riding a bicycle, going up and down hills
Poor posture and fatigue. Difficulty in standing for a long time as a result of weak muscle tone. Floppy, unstable round the joints. Some people with dyspraxia may have flat feet
Poor integration of the two sides of the body. Difficulty with some sports involving jumping and cycling
Poor hand-eye co-ordination. Difficulty with team sports especially those which involve catching a ball and batting. Difficulties with driving a car
Lack of rhythm when dancing, doing aerobics
Clumsy gait and movement. Difficulty changing direction, stopping and starting actions
Exaggerated 'accessory movements' such as flapping arms when running
Tendency to fall, trip, bump into things and people
Fine motor co-ordination skills (small movements):
Lack of manual dexterity. Poor at two-handed tasks, causing problems with using cutlery, cleaning, cooking, ironing, craft work, playing musical instruments
Poor manipulative skills. Difficulty with typing, handwriting and drawing. May have a poor pen grip, press too hard when writing and have difficulty when writing along a line
Inadequate grasp. Difficulty using tools and domestic implements, locks and keys
Difficulty with dressing and grooming activities, such as putting on makeup, shaving, doing hair, fastening clothes and tying shoelaces
Poorly established hand dominance:
May use either hand for different tasks at different times
Speech and language:
May talk continuously and repeat themselves. Some people with dyspraxia have difficulty with organising the content and sequence of their language
May have unclear speech and be unable to pronounce some words
Speech may have uncontrolled pitch, volume and rate
Eye movements:
Tracking. Difficulty in following a moving object smoothly with eyes without moving head excessively. Tendency to lose the place while reading
Poor relocating. Cannot look quickly and effectively from one object to another (for example, looking from a TV to a magazine)
Perception (interpretation of the different senses):
Poor visual perception
Over-sensitive to light
Difficulty in distinguishing sounds from background noise. Tendency to be over-sensitive to noise
Over- or under-sensitive to touch. Can result in dislike of being touched and/or aversion to over-loose or tight clothing - tactile defensiveness
Over- or under-sensitive to smell and taste, temperature and pain
Lack of awareness of body position in space and spatial relationships. Can result in bumping into and tripping over things and people, dropping and spilling things
Little sense of time, speed, distance or weight. Leading to difficulties driving, cooking
Inadequate sense of direction. Difficulty distinguishing right from left means map reading skills are poor
Learning, thought and memory:
Difficulty in planning and organising thought
Poor memory, especially short-term memory. May forget and lose things
Unfocused and erratic. Can be messy and cluttered
Poor sequencing causes problems with maths, reading and spelling and writing reports at work
Accuracy problems. Difficulty with copying sounds, writing, movements, proofreading
Difficulty in following instructions, especially more than one at a time
Difficulty with concentration. May be easily distracted
May do only one thing at a time properly, though may try to do many things at once
Slow to finish a task. May daydream and wander about aimlessly
Emotion and behaviour:
Difficulty in listening to people, especially in large groups. Can be tactless, interrupt frequently. Problems with team work
Difficulty in picking up non-verbal signals or in judging tone or pitch of voice in themselves and or others. Tendency to take things literally. May listen but not understand
Slow to adapt to new or unpredictable situations. Sometimes avoids them altogether
Impulsive. Tendency to be easily frustrated, wanting immediate gratification
Tendency to be erratic ñ have 'good and bad days'
Tendency to opt out of things that are too difficult
Emotions as a result of difficulties experienced:
Tend to get stressed, depressed and anxious easily
May have difficulty sleeping
Prone to low self-esteem, emotional outbursts, phobias, fears, obsessions, compulsions and addictive behaviour
Many of these characteristics are not unique to people with dyspraxia and not even the most severe case will have all the above characteristics. But adults with dyspraxia will tend to have more than their fair share of co-ordination and perceptual difficulties.
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ADHD / ATTENTION DEFICITE HYPERACTIVITY DISORDER: Joshua has exhibited ADD behaviours. When overly fatigued, he will show some hyperness but the concern is more with attention span. He has difficulty focusing on task. There have been improvements in this area and we have started using supplements such as Omega 3( fish oil) to help him focus and memory. We are not yet sure how this is affecting him as we have only been using this regimen for a short time. We have had to start using ADD and/or ADHD appropriate drugs for Joshua though we would prefer to avoid them. They come with risks which include making Joshua lethargic as well as stunt his growth further. Joshua( age 6) is already 2 inches shorter than his little sister who is two years younger.The decision to start Joshua on these drugs was not made lightly and we feel the benefits outweigh the risks at this time. We monitor Joshua closely for side effects and have made changes in meds and dosage when necessary.
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POSSIBLE MISSING TEETH: Joshua recently lost three of his baby teeth and has a fourth one that is loose. This was of concern to us because it is common for kabuki affected children to be missing some or all of their adult teeth. We were pleased to see that Joshua has already begun to grow a new adult tooth in place of one of the teeth he lost.. The adult tooth seems to be of normal size which is good because many of the kids who do get adult teeth end up with unusually small adult teeth. The one concern is that the adult tooth Joshua has seems to be taking the place of two teeth . There is concern that he may need a palate expansion to make room for all of his adult teeth. It is likely that Joshua will need braces when he is older. If he is missing any of his adult teeth, he will not be able to get implants until he is 18 and his jaw has finished growing.
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GROWTH ISSUES: It is common for Kabuki affected kids to have issues with growth as does Joshua. In many cases, it is because there is a deficiency in the production of growth hormone from the pituitary gland. Joshua has been tested for growth hormone deficiency because of his small size and tests revealed that his gland is in fact producing a normal amount of hormone. The endocrinologist feels that Joshua’s brain and body just are not able to use the hormone efficiently to grow to a normal height.. We are monitoring his growth and may consider growth hormone therapy in the future but it is a costly treatment with risks and with no guarantees for Joshua so we are holding off at this time. We are not ruling it out though.
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RISK OF PRECOCIOUS PUBERTY: There have been cases reported where children with this syndrome have begun puberty as early as age 3. There are drugs that can be given the arrest the adolescent development until a more suitable age. Joshua has not yet shown signs of this but we are still watchful of any signs of early puberty . Aside from the obvious concerns such as hormonal changes etc, there are other reasons to arrest early pubescent development.. Growth hormone therapy will not work on a child who has started puberty.
Signs of early puberty in boys include
• enlargement of the testicles or penis
• pubic, underarm, or facial hair development
• rapid height growth - a growth "spurt"
• voice deepening
• acne
• "mature" body odor
How Does Precocious Puberty Affect a Child?
When puberty ends, growth in height stops. Because their skeletons mature and bone growth stops at an earlier age than normal, kids with precocious puberty usually don't achieve their full adult height potential. Their early growth spurt may make them initially tall when compared with their peers, but they may stop growing too soon and end up at a shorter height than they would have otherwise.
Going through puberty early can also be difficult for a child emotionally and socially. For example, girls with precocious puberty may be confused or embarrassed about physical changes such as getting their periods or having enlarged breasts well before any of their peers. But the hardest part may be the teasing that children with the condition - especially girls - may experience.
Even emotions and behavior may change in children with precocious puberty. Girls can become moody and irritable. Boys can become more aggressive and also develop a sex drive inappropriate for their age.Joshua has not yet exhibitedany signs of precotious puberty but it is somthing we need to be watchful of so appropriate intervention could take place to arrest it .
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DEVELOPEMENTAL DELAYS: Joshua has obvious developmental delays which were evident right from his infancy. ( I.e. rolling over and walking etc.) Joshua did not walk until just over age two. Joshua was speech delayed. He made few sounds but did not actually speak until age 4. We taught him sign language and gesturing to help him communicate until he was able to achieve true speech. Once he began to speak, we discouraged the use of sign language because it was clear that Joshua was dependant on the signing and was actually signing words he could say out of laziness. Signing was easier for him so he would sign. Once we stopped teaching him signs, he began to use spoken words more frequently and now speaks in full sentences though he still has issues with forming certain sounds clearly. As previously stated, we will be investigating in the future whether Joshua needs further surgical intervention to help him in being able to from some sounds.
Joshua is still not able to remember all of his alphabet so therefore can not read . When colouring he just scribbles but can draw a line while following a path ( between two other lines) we are now working on more complex lines and shapes such as learning to draw a circle. Joshua is good at cutting lines with regular children’s scissors. When Joshua went to his first school back in St.Catharines in September of 2005, his teacher there( Mrs. Petro) taught him to count to one hundred. He sometimes forgets how to do it but I have seen him count to one hundred all on his own with very minimal help. It is common for Joshua to learn something, retain the knowledge for a while( even several months) and then completely forget he learned that particular thing. This happened a lot when he was first learning to make some sounds. He would forget how to form some sounds after having made those sounds for months. He has also exhibited this problem with learning his alphabet.
Many kids with kabuki syndrome have difficulty learning to write. Many of those that can write still have difficulty with it including experiencing fatigue so eventually need to learn on a computer to do homework assignments . We still want to make every effort to teach Joshua to write but acknowledge that it may be difficult for him.
When working on a computer, Joshua needs a smaller mouse to effectively manipulate the mouse. His fingers are short and not of usual length for the size of his hands.
Each case of kabuki syndrome varies so much in the area of development that it is difficult to determine at this time if Joshua will grow to a be higher functioning and contributing member of society or if he will be so significantly delayed as to be child like for the rest of his life. It is too early to determine this at this time. We are approaching Joshua’s learning etc. in a such a way as to give him every opportunity to become a contributing member of society. We will help Joshua to give us cues as to what he is capable of , giving him appropriate pushes in learning along the way. We refuse to pigeon hole him into a handi capped life mentality. We want him to be offered the same opportunities of education as every other typical child. We do know that allowances and modifications will sometimes need to be made to help him achieve his goals but it is important to us that Joshua remain in a main stream learning environment and not constantly be segregated from a regular class room learning environment.. All past case history with kabuki children shows that the higher functioning children with this syndrome flourish better in a main stream school environment while being offered the same learning opportunities and curriculum as their peers. There will be times when Joshua may complete a task better when taken out of a distracting environment but we hope that this is not always the way his learning is approached as it is important for his social development that he be allowed to grow and learn along side his peer group.
There are other minor differences in Joshua such as the width of his hands and the length of his fingers and fetal finger pads and also his spiky hair which are all kabuki traits. I have outlined here in previous paragraphs the ones I felt to be pertinent. As Joshua grows we discover new circumstances and issues to deal with. Because there are only approximately 500 cases of Kabuki syndrome in the world, we as are the doctors, are learning more about this syndrome all the time. It is not just a syndrome, but a journey.
WE HAVE SUCCESSFULLY RAISED FUNDS FOR JOSHUA'S SERVICE DOG.
IF YOU WOULD LIKE TO DONATE TOWARD THE RELATED EXPENSES OF GETTING JOSHUA TO AND FROM DOG TRAINING CLASSES SEVERAL TIMES A MONTH Or OTHER SERIVCE DOG RELATED EXPENSES, PLEASE CLICK THE PAY PAL DONATE BUTTON HERE . WE APPRECIATE YOUR GENEROSITY
You can also help Joshua get to training classes , or provide food and vet care for his dog by participating in our Rascal Resell Fundraiser or donating here on Joshua's web site.
Bozsenna Nowiki, the author of the books has generously donated 100 books, with 100% of the proceeds going to the cause.
The Rascal Resell Fundraiser is easy and fun. It works like this, you purchase one of the books (100% of the proceeds goes to Josh out of the first 100 books), read and enjoy it, then resell it to a friend or family member, directing the payment to Josh's Guide Dog Fund.
It's that easy, and it only takes each book to be resold 18 times to meet the goal of $18,000!!!
Visit our web store to purchase books or make a resell payment.
Thanks for your support, and happy reading!
Click the book image below to purchase a book for Joshua's cause or copy this URL into your browser
http://joshuasdog.webs.com/
Joshua and his new companion in training "Mason"
Autism Speaks... its time to listen
Autism Awareness
Together we can help solve the puzzle
He shall cover you with His feathers,and under His wings you shall take refuge;His truth shall be your shield and buckler.You shall not be afraid.
Psalm 91:4-5
This is a drawing I did of Joshua and I from a photograph that means alot to me. It was the very first time I held him after he was born and was stable.
To see more of my artwork click the portrait image to go to my portrait art web page. I am currently accepting commissions.The money I make from my portraits helps me care for my precious son.
