The Rabush World...

Test	Result	Comment
Skeletal Survey (full body)	Delayed Skeletal Maturation	Overall bony mineralization is normal.  No epiphyses for the proximal femur is present...a girl normally develops between three and six months of age.  Bone age of patient's knee is between .5 and 2 months.  Delay in the ossification of the humeral head.  Patients age at time of xray was 7 months old.
MRI (Brain) First one November 2001 Repeated October 2002 Number 3 ~ Scheduled for July 6th 2004	Unremarkable / Negative   May 2007   We now know that significant information was missed during her first three MRIs/MRS.  They have found that there is atrophy in the cerebellum, specifically the superior vermis.  She had a fourth MRI in September of 2006 which confirmed that the atrophy continues and the cerebellum is decreasing in size.  They tell us it is a progressive atrophy and we should expect her abilities to decrease...but no one can tell us when or how severe the decreases in balance and coordination will be.  Its ironic she's had to work so hard to get to where she is and yet she might lose it all some day.  It is our hope that the atrophy stops.  We'll see in a 5th MRI in a few years from now.	NOVEMBER 2001 Opercula appear slightly widened bilaterally.  Otherwise, ventricular system total normal. No evidence of intracranial masses.  No intra or extra-axial fluid collections.  No abnormal parenchymal signal.  The visualized paranasal sinuses are clear and orbits are unremarkable.  An incidental note is made of the pacchionian granulation seen adjacent to the superior sagittal sinus a the the junction with the straight sinus.   OCTOBER 2002 No differences noted from first to second MRI. Brain is developing normally. Mylenation (sp?) is good and progressing normally.  Granualation is still noted. Again, unremarkable.   JULY 2004   MRS was performed and there were no remarkable problems.  Everything is at it should be...HMMM!!
Stomach / Chest Xrays	Normal / distended bowel	Heart size was normal.  Lungs were free of infiltrates.  Some dilation of the large and small bowel with protrusion of the anterior abnominal wall due to the distended bowel.
Metabolic Panel Repeated 3 times	Abnormal (scattered) twice ~ Normal once	Creatinine ~ low Bun/Creatinine Ratio ~ high Carbon Dioxide ~ low Albumin/Globulin Ratio ~ high AST ~ high Pyruvate (B) ~ low Lactate ~ blood ~ high
Perioximal Panel	Normal / In Range	Values obtained for Very Long Chain Fatty Acids, Pristanic Acid and Phytanic Acid are in normal limits.
High Resolution Chromosome Study	46 XX normal female karotype	Banding level required for high resolution analysis was met in this study.  The following possibilities, although rare, can not be ruled out: low level mosaicism very subtle rearrangements genetic disorders that can not be detected by standard cytogenetic methods
Microdeletion Syndromes FISH For: Prader~Willi Syndrome Angelman Syndrome Williams Syndrome	Negative	The deletion associated with the majority of cases of Prader~Willi and Angelman Syndromes is not present in this patient.  Negative for Williams Syndrome ~ October 2002
Repeat Thyroid: T4, T3, TSH	Normal / In Range	T4 was high end normal...right at the cut off.
LDH CK	Normal / In range	Slighty Lipemic
Amino Acid Anaylsis Qualitative ~ Plasma	Normal Across the Board	This pattern of Amino Acids does not suggest a specific inherited metabolic defect.  Further testing to investigate inborn errors of metabolism is suggested if clinical signs exist.
Organic Acids Quantitative Random Urine Full Panel ~ Repeated 3 times	Abnormal (scattered) ~ twice Normal ~ once	All the Organic Acids Listed were out of range ~ HIGH Lactic 3~Hydroxypropionic 3~Hydroxyisobutyric 2~Hydroxyisovaleric Methylmalonic Benzoic Glyceric Uracil Fumaric Glutaric 3~Methylglutaconic Malic Pyruvic 2~Hydroxyglutaric Aconitic Orotic Homovanillic Acid Citric ***MOST ABNORMALLY HIGH!! 5~HIAA
Valine Stimulation Study 6 hour urine	Pending	Waiting on Insurance Approvals...Cigna has never heard of these tests...Pharmacy does not know how to fill a Valine prescription???
Isoleucine Stimulation Study 6 hour urine	Pending	Waiting on insurance...same situation as above!!
EEG (awake/drowsy)	Normal ~ Negative for Seizures	Normal ~ no evidence of past or present seizure activity
Lead Level	Normal	Routine
CBC	Normal	Routine
Cat Scan (full body)	Normal	Everything was perfect!
Vision Screen Pediatric~ neuro Opthamalogist	Vertical Nystagmus Slightly near-sighted Significant Astigmatism	Belief is that the vertical nystagmus is due to poor muscular control and her low tone...does not feel it is central nervous system related...Does not need glasses...thinks that the near sighted will correct self as she developmental progresses!  At her recheck exam her eye sight is developing nicely still...delayed but still developing.
Hearing Screen	Normal	The doctors do want to retest this / Retest December 2002 proves to be normal still
Swallow Study	Bad Gag reflex Hypersensitive	Only comprehensive...no barium swallow...sensory integration issues within the confines of her mouth...can not tolerate texture or extreme colds...will gag and vomit.
Upper GI / with Barium Swallow	Normal no reflux noted.   May 2004 Repeat with speech pathologist Madison is penetrating thin liquids with no aspiration ~ Have to thicken liquids.	Upper GI went well...Madison drank down the Barium with no problem...during the scan there were some instances that showed her about to reflux but she never actually did.  Her Gastroenterologist did however put her on Zantac for protective measures...mainly to protect her esphogus from the acid.  Madison is a Chronic Vomiter.
Sweat Test for Cystic Fibrosis	Normal	Completely normal, no signs of Cystic Fibrosis
Muscle Biopsy (Skeletal Tissue)	Non ~ specific / Inconclusive	To be done at Columbia Presbyterian Medical Center in New York City...neurology consult with Dr. DeVivo. Finally, surgery was performed on her muscle on July 11th 2003 up at Columbia.  Initial Results read in September 2003 showed nonspecific muscular abnormalities.  Her Type 2 Fibers?? are not normal but his is likely the result of her condition and not the cause of it.  Unfortunately, this news was unsettling for us...as we had hoped the muscle biopsy would finally give us some answers and a diagnosis for Madison.  2 years of searching and still counting...it really stinks!!  We are aware that a diagnosis will not change things for Madison...she is who she is...and whatever disorder she has is most likely uncurable...but we had hoped that finding "REASONS WHY" might give us some peace.
Spinal Tap	Normal / nonspecific	To be done at Columbia ~ to study her spinal fluid ~ most of the spinal fluid tested at Columbia also came back inconclusive with only minor abnormalities...her copper transport system is abnormal...her potassium and carnitine is very low.  However, some of her spinal fluid was sent to BAYLOR INSTITUTE in TEXAS to be tested.  These results are still pending...we are still holding onto the hope that BAYLOR finds us an answer. No answers still....January 2004
MRS (brain scan)	July 6 2004 ~ Normal / Non specific   September 2005 ~ this MRS was not normal... Dupont had missed a significant finding on her cerebellum This changes EVERYTHING!!	Done at AI Dupont Children's Hospital.  Normal.   Re-Read at NIH in Bethesda, MD (September 2005)...not normal...cerebellum atrophy was found in the vermis...the superior cerebellar vermis of her brain.  The rest of the brain looks good.   RE-RE-READ (December 2005) AI DUPONT ~ they concur with NIH and found the mistake.  They said it is subtle but they missed it.  THIS CHANGES EVERYTHING!!
Controlled Metabolic / Mitochondria testing Urine and Blood Samples	Mostly Normal ~ September 2003	To be done at Columbia...most results that were abnormal previously are now normal...but some new abnormalities showed.  Carnitine levels and Potassium levels are very low...and her Copper Transporation system is not working properly???  We have an appointment to discuss all of the results in better detail...like I said before...any diagnosis at this point would be better than STILL no answers.
Chromosome Tip Analysis	Normal May 2004	Done at Dupont in DE under direction of Genetics...NO ANSWERS!!
Family Genetic Testing	Pending May 2004	Coming soon...

Symptoms	Description/Definition	Comments
Severe Hypotonia	Decreased muscle tone, generally in an infant. There is a rag doll-like feeling or sense of floppiness upon holding the infant. Floppy; Decreased muscle tone; Hypotonic infant. Hypotonia is often a sign of abnormality in the case of a newborn or older infant, and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorder.  Usually a symptom of something else, medical field will also use a term benign congenital hypotonia.	Madison's Hypotonia seems to be more severe in her trunk, spine and stomach areas. NOVEMBER 2002 As described by Dr. DeVivo in NYC...Madison's Hypotonia seems to be of the Central Origin...meaning her Central Nervous System is affected and probably causing her problems.
Extreme Global Delays	A developmental delay occurs when your child has the delayed achievement of one or more of his milestones. This may affect your child's speech and language, his fine and gross motor skills, and/or his personal and social skills.  A child with a global delay will have delays in all areas of development. It is usually caused by a static (does not worsen with time) encephalopathy caused by a disorder before or near the time or birth. Causes of global delays include prematurity, cerebral malformations, chromosomal disorders, infections, and progressive (may worsen with time) encephalopathies (metabolic diseases, hypothyroidism, neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis), Rett syndrome, and hydrocephalus).	Madison's delays are just about across the board...EI has delayed her in the following areas (Madison at 34 months): Gross Motor (9 ~10 month level) Fine Motor (solid 21/22 months with scattered to 30 months) Self Help () Communication (24 months expressive / 31 months receptive) Cognitive (Solid 30 months ~ delay blamed on MOTOR only) language () Social Skills (Target Behaviour)
Vertical Nystagmus (initially) Horizontal Nystagmus ~ Noted January 2004	Nystagmus refers to rapid involuntary movements of the eyes that may be from side to side (horizontal nystagmus), up and down (vertical nystagmus) or rotary. Depending on the cause, these movements may be in both eyes together or in just one eye. The term "dancing eyes" has been used in regional dialect to describe nystagmus.  The abnormal eye movements of nystagmus are caused by abnormalities of function in the areas of the brain that controls eye movements, but the exact nature of these disorders is often poorly understood. Nystagmus may be either congenital (present at birth) or may be caused by disease or injury later in life.	Madison has a vertical (up/down) nystagmus...drs who have witnessed this...believe hers is caused by weak muscles from the hypotonia...as she is getting more and more muscle control...we notice the nystagmus less and less!
Acidosis Breath	Hard for me to describe...sweet smelling breath...like that of a person who hasn't eaten...a person fixated on dieting often get this.  Couldn't find a good definition.	We try to give Madison many small meals and bottles a day and this seems to eliminate this breath in her.  If she goes too long with out a meal the breath is very evident.  I'm assuming this has to do with her metabolism and whichever disorder she may have.
Subtle Facial Differences as noted by Geneticist	Considered abnormal features when looking for specific and non specific syndromes and disorders...Madison is considered by the Geneticist as a toddler with subtle multiple anomolies syndrome, due to her facial differences??	Almond Shaped Eyes Prominent Epicanthal Folds Decreased Nasal Bridge Stellate Patterning of the Iris "Starburst look" Low set ears Thin Upper Lip Long Philtrum Light Crystal Color Eyes Sparce Blondish Hair Wide mouthed Smile Prominent forehead Short Neck Fetal Fingertips Toe Nail Anomolies (her pinky toenail doesn't grow straight?) Prominent labia Prominent sides of head
Dys~Equalibrium Noted by Neurology	Opposite of Equilibrium ~ which is a state of balance between two opposing forces of effects, the system involved undergoing no total change...equilibrium occurs naturally in a persons body. Madison is missing this??!!??	Madison has an extreme lack of MOTOR CONTROL...as the doctor said...it's quite "impressive".  She has no protective skills and has to be taught to use her hands to stop a fall...etc.  She is very uncoordinated but you can see her try so very hard!
Dyspraxia	Developmental dyspraxia is an impairment or immaturity of the organisation of movement. It is an immaturity in the way that the brain processes information, which results in messages not being properly or fully transmitted. The term dyspraxia comes from the word praxis, which means 'doing, acting'. Dyspraxia affects the planning of what to do and how to do it. It is associated with problems of perception, language and thought.  Dyspraxia is thought to affect up to ten per cent of the population and up to two per cent severely. Males are four times more likely to be affected than females. Dyspraxia sometimes runs in families. There may be an overlap with related conditions.  Other names for dyspraxia include Developmental Co-ordination Disorder (DCD), Perceptuo-Motor Dysfunction, and Motor Learning Difficulties. It used to be known as Minimal Brain Damage and Clumsy Child Syndrome.  Statistically, it is likely that there is one child in every class of 30 children.	You can see Madison trying very hard to make certain connections...such as...getting a cheerio into her mouth (she'll miss it several times before she gets it right...she's much better with Honey Combs).  Her hand and arm movements are very choppy not flowing like in "normal" instances.  At 16 months, she has come along way and can now focus enough to get her hats off, socks off, put balls in a bowl etc.  It's all hard for her because of her lack in cooridination and balance.  As she gets older and experiences more and begins to explore "her" world...her coordination should improve...as the old saying goes..."Practice makes Perfect"
Recurring Ear Infections	Otitis media means inflammation of the middle ear. The inflammation occurs as a result of a middle ear infection. It can occur in one or both ears. Otitis media is the most frequent diagnosis recorded for children who visit physicians for illness. It is also the most common cause of hearing loss in children.  It is serious because of the severe earache and hearing loss it can create. Hearing loss, especially in children, may impair learning capacity and even delay speech development. However, if it is treated promptly and effectively, hearing can almost always be restored to normal.  Otitis media is also serious because the infection can spread to nearby structures in the head, especially the mastoid. Thus, it is very important to recognize the symptoms (see list) of otitis media and to get immediate attention from your doctor.	NO TUBES YET!!  Madison gets a lot of ear infections are longest bout recorded was this past winter...she was on antiobiotics for 50 days and in the hospital twice.  We are holding off on tubes thus far because dr. feels it may just be seasonal...we've been ear infection free since March 2002 now!!
Frequent Chest Congestion & Loud Nightly Snoring (even on good days)	The state of being Congested.  Clogging of the chest with excess mucus. Lung congestion and discomfort  many times associated with illnesses and colds.	Madison does get sick a lot and often has a lot of chest congestion...she isn't really strong enough to cough of mucus so it sits and rattles in her chest.  We have always kept a good ear and eye on her to avoid further complications of this. She has aspirated on occassion and has had broncial problems as well.  Her breathing even when she is not sick often is rattly and heavy (congested sounding).  Madison also snores heavily at night and is a very loud sleeper!!  Does not make for good cohabitation!!
Frequent Gagging & Vomiting & swallowing Difficulties (hypersensitive gag reflex)	To lose your cookies!! To throw up contents of stomach through the mouth. With great force sometimes (projectile)	Madison vomits and gags very easily...at any given moment...Madison can make herself vomit.  She starts off with a cough, leads to a gag and then she vomits...she can not stop herself once she gags...sometimes we can distract her and she is able to prevent the inevitable.  This sensitive makes it difficult to apply any "normal" discipline activities...such as laying her in her crib and crying herself to sleep (not unless I intend on washing sheets),  when she's fussy we HAVE TO console her ASAP,  we can't introduce new foods on a full stomach, and her feelings get very hurt when you tell her no (it's very rare we ever have to tell her no anyway) but she will get herself upset and vomit when we do.  Unfortunately, most people who don't know us think we are only spoiling her however, we can not afford to let her lose weight (we are doing everything in our power to avoid tubal supplements)
Oral Sensory Integration Issues	There are different types of sensory integration issues in children - including oversensitivity and undersensitivity to touch, taste, smell, sound, or sight, and/or to movement sensations, unusual activity levels, and problems with motor coordination.	Madison's Sensory Issues seem to be concentrated in her oral motor abilities...she doesn't like anyone to touch her mouth, brush her teeth, etc.  She will put her own fingers in her mouth (and just about everything else) however she will not allow anyone else put an object in her mouth (with the exception of her feeding spoon and bottle nipple).  Madison does not like cold things in her mouth.  She has a hypersensitive gag reflex which ultimately causes her to vomit...she starts off by gagging or coughing and can not stop it until she vomits.  Vomitting is usually projectile and comes in threes!  YUK!  We try to avoid her vomiting at all costs because of her weight issues.  We work with Madison using oral therapy and lots of facial stimulation...tooth brush rubbing and vibrating toys in her mouth to encourage exploration and a decreased sensitivity.
Ptosis (minor)	A condition caused by weakness of the muscle responsible for raising the eyelid, damage to the nerves which control those muscles, or laxity of the skin of the upper eyelids.   Drooping eyelids in another name for this.  Causes of drooping eyelid (ptosis) may be the normal aging process, a congenital abnormality, or the result of an injury or disease.	Madison only has eyelid droop in her left eye...sometimes it is really noticeable and other times it isn't there at all...while we would like to think it is because of her muscle tone.  Kids with mito/metabolic disorders often present with droopy eyelids...Madison's is only minor...but just began at around 12 months of age.  The neurologist didn't think it was a big deal at the moment...we want to work on getting her a diagnosis before we worry about the minor symptoms.
Small Hands / Small Feet	Drs say this is a symptom of different syndromes or diseases...prader~willi syndrome (example).	Madison's hands and feet are small compared to other babies at her age...she wears a size 1 or sometimes a size 2 shoe...at 16 months old...Most babies grow out of these sizes by 3-6 months of age.  Madison's dr. does not think her small hands / feet are a component of a disorder but rather from lack of use...he says that once she starts bearing weight on her feet they will start to grow.  Apparently, you need to use these for them to grow...now that Madison has started to bear weight we will see if her feet finally grow!!
Failure to Thrive (borderline)	A description applied to children whose current weight or rate of weight gain is significantly below other children of similar age and sex. Failure to thrive can result from a wide range of causes, including genetic, physical, psychological, or social factors. Other names include: Growth failure; FTT .	Madison's weight and height fall right at the 3% level...if she drops below this level...she will technically be "failure to thrive".  We have begun boosting Madison's diet with many different "HI CAL" supplements.  She gets Pedia sure or Carnation Instant Breakfast instead of Whole milk...this boosts calories and nutrients.  We use soy protein in all of her food and additions (by Nestle) in her hot foods...these supplements not only are healthy but add about 100 calories to every meal.  Since Madison is on a limited diet because of swallowing difficulties...we puree most of her foods and always add Mayonaise, butter, or oatmeal to beaf up the calories.  She gets a lot of "power shakes" smoothies with veggies and fruits...anything we can think of that she'll like!  She is picky when it comes to taste as well and often begins to gag if the taste isn't to her liking!! 16 months 17lb. 6 oz. 29 inches (height isn't so much of a concern as her weight) She's growing just not gaining!!  We have to be careful to keep Madison healthy...it is not uncommon for her to get sick and when she does she tumbles fast!!  Losing all the effort we've made to boost her reserves very quickly.  She is high at risk to go into metabolic crisis very easy! NOVEMBER 2002 20 months old 19lbs. 1oz. 29 1/2 inches Her Weight Gain is still a major concern with Drs...Tubal Feedings have been discussed again. May 2004 38 months 23 lbs 33 1/2 inches Growth and weight continue to be a big concern!! She is lagging. May 2005 50 months ~ 4.2 years 26 lbs. 37 inches While the professionals are still concerned with her size and weight...I am not...she is THRIVING...regardless!
Developmental / Static Encephalopathy	Static Encephalopathy, as defined by Easter Seals: "Permanent or unchanging brain damage. The effects on development depend on the part of the brain involved and on the severity of the damage. Developmental problems may include any of a range of disabilities such as cerebral palsy, learning disabilities, mental retardation, autism, PDD, speech delays, attention deficits, hearing & vision impairments, oral motor problems, etc."  Cerebral palsy, or static encephalopathy, is a condition where nonprogressive damage to the brain results in a disorder of posture or movement. CP may be accompanied by seizures or by problems with vision, speech, or intellect.	As much as we hate to hear it, it is evident that Madison will be left with many deficits throughout her life.  Three of her doctors have actually mentioned that she will have some form of mental retardation given her early medical history.  Madison will receive help from the Division of Developmental Disabilities given her temporary diagnosis of Static/ Developmental Encephalopathy...this service will help our family qualify Madison for Medicaid which will greatly reduce our out of pocket expenses...they should help cover her copays, hospital visits and nutritional supplements. Madison had been accepted to SSI disability but later denied because Scott and I own two vehicles that are paid off...OH THE SYSTEM OF OURS WORKS WELL...they told us to buy a new car and have payments...lol...this is another story!  I have to admit...I saw this coming...as her "GAPS" in development widened...it became apparent the Madison will not "CATCH UP" ever.
Truncal Ataxia / Cerebellar Ataxia (dx in 2005)	-implicit in the definition of ataxia is the presumption that muscle strength is not impaired, or not sufficiently impaired, to cause muscle incoordination - the ataxic patient has problems with the accuracy and organization of voluntary muscle actions, resulting in uncoordinated movements involving the trunk and/or limbs and/or speech and/or eye movements - the incoordination consists of irregularities in the rhythm, rate, and amplitude of voluntary movements => voluntary movements become jerky and erratic - cerebellar gait disturbances involve disturbances in stance and gait - ataxia may primarily involve the trunk (truncal ataxia) and the patient may not be able to sit or stand unsupported (astasia); truncal ataxia is usually due to midline cerebellar disease, and associated limb ataxia due to lateral cerebellar hemisphere disease may not be present - incooordination of walking (gait ataxia) that is so severe that the patient cannot walk is called abasia, and the term astasia-abasia is used if the the patient's balance is so impaired that the patient cannot maintain his balance when either sitting or walking - persistent incoordination of the truncal axial musculature may produce body tilts, pelvic tilts or head tilts - severe lower limb dysmetria and dysynergia (due to lateral cerebellar hemisphere disease) may rarely produce an inability to walk, and mimic cerebellar gait ataxia (due to midline cerebellar disease)	We aren't sure why Madison has had this listed as a symptom but it is on her medical report...we had assumed her unsteady trunk was do to her low tone.  Apparently, ataxia is tough to diagnose as know one can tell if it is Madison's tone or a neuro problem causing her constant movement.   August 2007   Madison's ataxia is cerebellar in nature and due to the atrophy in the cerebellum.  Her atrophy is located in the superior vermis.  Her low muscle tone, which is mostly resolved, had nothing to do with the ataxia that she experiences on a daily basis.  She has a hard time controlling her movements especially with small motor tasks and some gross motor activities.
Sleeping with eyes open (partially)	Some normal people sleep with their eyes slightly open. This symptom, however, should prompt a search for an underlying neurological problem, namely bilateral facial weakness. One of the more common causes of such a problem, particularly if it has gone unnoticed by the individual, is a form of muscular dystrophy called facioscapulohumeral muscular dystrophy. This may be quite mild in some cases and may present only as some asymptomatic facial weakness and mild shoulder girdle muscle atrophy. It runs in families from generation to generation.	Madison sleeps with her eyes open (partially).  We aren't sure what causes this...she has been doing this since infancy.  We originally thought that her eyelids didn't stay shut because of her low tone...but have found that this may be more involved.  Don't know for sure.
Dysarthria	Dysarthria is a speech disorder that is due to a weakness or incoordination of the speech muscles. Speech is slow, weak, imprecise or uncoordinated. It can affect both children and adults. "Childhood dysarthria" can be congenital or acquired. It is often a symptom of a disease, such as cerebral palsy, Duchenne muscular dystrophy, myotonic dystrophy, Bell palsy. In both adults and children, it can result from head injury. In order for speech to be clear, a number of subsystems must work together. A weakness in any one of the systems can result in dysarthria. So can an incoordination between systems. The lungs (respiratory subsystem) supply the air necessary to power the speech system. The voice box or larynx (laryngeal) sets the air vibrating and creates voice. The soft palate (velopharyngeal) acts a door between the oral and nasal cavities and channels air to one or both cavities resulting in different sound quality. The lips, tongue, teeth, and jaw (articulatory) move to further channel and shape the sounds into the various vowels and consonants. If the respiratory subsystem is weak, then speech may be too quiet and produced one word at a time. If the laryngeal system is weak, speech may be breathy, too quiet and slow. If the velopharyngeal subsystem is not working, speech may sound too nasal or nasal sounds may be misssing. If the articulatory subsystem is not working, speech may sound slurred, may have many errors and may be slow and laboured.	Many doctors agree that Madison has dysarthria...she can only speak short utterances...mostly one word at a time...and it is labored and unclear.   Her lack of expressive skills because of the dysarthria...does not limit her receptive capability.  She completely understands most things but can not express herself.  We are working on respiratory strength...oral motor coordination and other strageties to help her speak more efficiently. She is learning sign language and used a PECS system.  We try to limit questions to yes and no answers.   And we have developed a great deal of communication methods with much patience and understanding.  Madison can usually get her point across to "us" without much frustration.  She does get frustrated on occassion.  It is a difficult thing to deal with...probably the most difficult for me! August 2007 6.5 Years old Madison can only speak single syllables on a regular basis. Her vocabulary is large and her understanding is normal. Her expressive speech is our biggest obstacle. On occassion she will use more than one word. She has a computer which talks...she uses a dynavox and springboard.  However, we understand her so she prefers to use her voice. Never a communication issue at home just at school and with peers.
Macrocephaly	Macrocephaly is a rare condition in which the head is abnormally large. Spaces between the bones of the head that hold the brain, known as fontanels, are very wide in people with macrocephaly. Compare macrocephaly to microcephaly, which is a rare condition in which the head is abnormally small. Macrocephaly can be present from birth, but it can also develop during the first few years of life. Thus, it is possible for the head to be normal in size at birth, but to grow at a more rapid rate afterwards, causing it to be too large. In macrocephaly, the brain is abnormally large and brain functioning is usually abnormally slow. This generally results in some degree of mental retardation (slowness), and thus many individuals with macrocephaly have low intelligence. There are a small percentage of people who have large heads and large brains, but are normal in all other ways. These people tend to come from families of people with large heads, and in these cases the condition appears to be inherited. The facial features of people with macrocephaly are usually normal. This is because the face grows at a normal rate in people with macrocephaly.  The growth of the rest of the body, in people who have macrocephaly, is often slowed. Thus, the head appears large in comparison to the rest of the body.	Maddie was diagnosed with this in May 2004 ~ it's new to us...so information about her situation will be forth coming.