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:
|
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
|
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
|
|
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):
|
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!!
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.
|