Friday, June 29, 2012

Flashback Friday: Roller Coaster

from Small Journey of a Life's Journey, April 13, 2011

Sadly, I've been back on that "roller coaster" of emotions... 

you probably know the ones.  If you're reading as a parent to a child with extra medical needs and a list of expectations that you could write a test cheat sheet for on one finger, you definitely do. The extremely high moments of beaming pride for the littlest feats your child masters, even with extremely limited abilities and a very grim initial diagnosis... and then there is the bottoming out, when you feel like all strings you've firmly attached to hope are being clipped all at one time.

I'm sure the ride is similar for us all, I'm actually told it's "normal" when parenting a child with any special needs (I don't exactly believe in any sort of "normal" these days)...  but, somehow right now I feel that my own roller coaster ride must not have met the guidelines for safety or speed and has left the track on a completely different journey.

The repercussions of those emotions = blog-writer's block... it's gone & I'm back to giving my blog more of my passion-filled time. I still have the passion, just momentarily lost my desire to share it. 

Let me give you the short version of my most recent ride:

A little over a week ago, that ugly "s" word grabbed hold of my sweet 'lil man and did not want to let go without two hefty doses of rescue medications. I HATE seizures, but unfortunately watched my normally happy boy succumb to some of the most intense seizures he has ever had in his little life. One may have been tolerable, but he had many... then many less intense ones too which landed him with a mini-vacation over a span of four days at our local Naval Hospital pediatrics ward. 

These nasty episodes we had been so lucky to avoid for a couple of years, for the most part. I was completely naive to think that my 'lil man would be that "ONE" child living with a hydranencephaly diagnosis that would not endure these dates with such bodily violence. It made me physically ill to watch... after they were under control, I still was not. My stomach turns, my brain doesn't stop churning either... and I had a few moments where I wasn't entirely sure that I was being a selfless mommy, that some of those medical "professionals" were right and that there was no reason for any of this to be happening...

It's amazing the crazy scenarios that run through your head when you're watching these things happen to your own little boy, the one you are so accustomed to watching beam with the biggest smile on the planet... full of nothing less than pure joy and life, and always sharing that joy with everyone that he meets along his way.

Those seizures changed him. 11 days later & I swear that they did, not that anyone else aside from me would notice.

Those first days, hardest days I have endured... I felt, for the first time, like I was actually helplessly watching him die. He was unresponsive, his eyes rolled up in to his head so far that all the doctors could see were the whites of his eyes. His limbs were completely limp, when he was awake...  the very few moments he was, he could barely hold his eyes open and definitely couldn't move his arms or legs, let alone his head. The scariest part was that I wasn't scared... extremely sad, but not scared. That only made me mad.

I almost thought for a second that I may be ok with him joining the angels, that was only a fleeting second. Let me assure you that while I know he would be complete once he does... I want to be selfish for many more years, as long as he's "healthy" and keep him here with me. Then I was so angry... again.

The anger actually began before the seizures now that I think about it, almost as if my mommy-instinct knew something was happening. I should've been thrilled that he had made so many new accomplishments between preschool, physical and craniosacral therapies. Instead, I felt cheated out of being completely prideful of that "typical" list of  prideful things. The most silly one, the fact that he couldn't throw a temper tantrum like a 2-year old should!

I found myself hanging on to the "it's not fair" special needs mommy sign... that I wasn't allowed to beam with pride over him potty training or learning to be more active at the park. Instead I had been happy that he could hold his head up for minutes unassisted instead of seconds. It's getting harder, he's getting older. He is supposed to be doing so much more, we are supposed to be running around at the playground not hopeful that his wheelchair will get here this week so that he's not slouched in a misproportioned stroller.

Back to sitting in one of the most uncomfortable chairs next to my lethargic baby boy in the hospital room, doing crosswords on my phone and trying to act like I'm being positive when presenting updates to my friends and family. I want to be positive all of the time, for some reason I cannot always find my positive... so, I fake it. I must fake it well when I need to, but most of the time the optimism is alive in there.

Then he loses "friends" from our hydranencephaly network of families... this time wee, little 7-month old Robert. There is another jab to the gut with a machete... may he fly high and play amongst the angels and send some peace to his loved ones he left behind on Earth.

Fortunately, those 11 days have passed and my AMAZING 'lil man is back to school and having his very first spring program today with his class. They're singing and dancing (as much as a class of 2-4 year olds can) to Katy Perry's Firework:

Do you ever feel like a plastic bag
Drifting through the wind
Wanting to start again

Do you ever feel, feel so paper thin
Like a house of cards
One blow from caving in

Do you ever feel already buried deep
Six feet under scream
But no one seems to hear a thing

Do you know that there's still a chance for you
Cause there's a spark in you

You just gotta ignite the light
And let it shine
Just own the night
Like the Fourth of July

Cause baby you're a firework
Come on show 'em what you're worth
Make 'em go "Oh, oh, oh!"
As you shoot across the sky-y-y

Baby you're a firework
Come on let your colors burst
Make 'em go "Oh, oh, oh!"
You're gunna leave 'em fallin' down-own-own

You don't have to feel like a waste of space
You're original, cannot be replaced
If you only knew what the future holds
After a hurricane comes a rainbow

Maybe you're reason why all the doors are closed
So you could open one that leads you to the perfect road
Like a lightning bolt, your heart will blow
And when it's time, you'll know

You just gotta ignite the light
And let it shine
Just own the night
Like the Fourth of July

Cause baby you're a firework
Come on show 'em what you're worth
Make 'em go "Oh, oh, oh!"
As you shoot across the sky-y-y

Baby you're a firework
Come on let your colors burst
Make 'em go "Oh, oh, oh!"
You're gonna leave 'em all in awe-awe-awe"

Boom, boom, boom
Even brighter than the moon, moon, moon
It's always been inside of you, you, you
And now it's time to let it through

Cause baby you're a firework
Come on show 'em what your worth
Make 'em go "Oh, oh, oh!"
As you shoot across the sky-y-y

Baby you're a firework
Come on let your colors burst
Make 'em go "Oh, oh, oh!"
You're gonna leave 'em all in awe-awe-awe

Boom, boom, boom
Even brighter than the moon, moon, moon
Boom, boom, boom
Even brighter than the moon, moon, moon

I listened to that song a gazillion times after his teacher told me that Brayden responded the best to this song when they were trying to select one for the program, the words are him... he can maybe take credit for selecting it for his class to perform in their school program. Sounds lame, I'm sure, but really... not only was he my little "firecracker baby" from the beginning with a due date of July 4th, but he is a firework in Katy Perry's sense too!

In this program, Brayden is lighting the "fireworks" with his switch... it makes me teary-eyed to type. He's the star of the show & I cannot WAIT to see him shine!

So, here we are... back to the highs of the roller coaster ride. These emotions are so disgustingly frustrating, I cannot stand them sometimes. Thankfully I'm back to battling against those nasty "impossibilities" with my 'lil man. But, once in a while a post like this will come along here... a total rambling of nonsense from a mommy with a crazy head rush after a bad roller coaster ride! 

"Impossible is just a big word thrown around by small men who find it easier to live in the world they've been given than to explore the power they have to change it. Impossible is not a fact. It's an opinion. Impossible is not a declaration. It's a dare. Impossible is potential. Impossible is temporary. Impossible is nothing." 

~♥ Muhammad Ali

Thursday, June 28, 2012

Thankful Thursday: Passion

Simply stated, I am beyond the point of passionate regarding the importance of raising awareness of many rare conditions affecting our children. Sure, my own little one is living with hydranencephaly... a cephalic disorder that happens roughly one in 10,000 births. Cephalic disorders are congenital conditions which affect the brain and central nervous system, and these are the conditions I am most passionate about. Here is a rundown of the most common, if you can call any of these rare conditions "common", cephalic disorders from the National Institute of Neurological Disorders and Stroke

ANENCEPHALY is a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain - the largest part of the brain consisting mainly of the cerebrum, which is responsible for thinking and coordination. The remaining brain tissue is often exposed - not covered by bone or skin.

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The disorder is one of the most common disorders of the fetal central nervous system. Approximately 1,000 to 2,000 American babies are born with anencephaly each year. The disorder affects females more often than males.

The cause of anencephaly is unknown. Although it is believed that the mother's diet and vitamin intake may play a role, scientists agree that many other factors are also involved.

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most infants do not survive infancy. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. Anencephaly can often be diagnosed before birth through an ultrasound examination.

Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.

COLPOCEPHALY is a disorder in which there is an abnormal enlargement of the occipital horns - the posterior or rear portion of the lateral ventricles (cavities or chambers) of the brain. This enlargement occurs when there is an underdevelopment or lack of thickening of the white matter in the posterior cerebrum. Colpocephaly is characterized by microcephaly (abnormally small head) and mental retardation. Other features may include motor abnormalities, muscle spasms, and seizures.

Although the cause is unknown, researchers believe that the disorder results from an intrauterine disturbance that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of mental retardation, microcephaly, and seizures are present.

There is no definitive treatment for colpocephaly. Anticonvulsant medications can be given to prevent seizures, and doctors try to prevent contractures (shrinkage or shortening of muscles). The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.

HOLOPROSENCEPHALY (HPE) is a disorder characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop. During normal development the forebrain is formed and the face begins to develop in the fifth and sixth weeks of pregnancy. Holoprosencephaly is caused by a failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function.

There are three classifications of holoprosencephaly. Alobar holoprosencephaly, the most serious form in which the brain fails to separate, is usually associated with severe facial anomalies. Semilobar holoprosencephaly, in which the brain's hemispheres have a slight tendency to separate, is an intermediate form of the disease. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly, the patient's brain may be nearly normal.

Holoprosencephaly, once called arhinencephaly, consists of a spectrum of defects or malformations of the brain and face. At the most severe end of this spectrum are cases involving serious malformations of the brain, malformations so severe that they are incompatible with life and often cause spontaneous intrauterine death. At the other end of the spectrum are individuals with facial defects - which may affect the eyes, nose, and upper lip - and normal or near-normal brain development. Seizures and mental retardation may occur.

The most severe of the facial defects (or anomalies) is cyclopia, an abnormality characterized by the development of a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye.

Ethmocephaly is the least common facial anomaly. It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal smallness of one or both eyes). Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes.

The least severe in the spectrum of facial anomalies is the median cleft lip, also called premaxillary agenesis.

Although the causes of most cases of holoprosencephaly remain unknown, researchers know that approximately one-half of all cases have a chromosomal cause. Such chromosomal anomalies as Patau's syndrome (trisomy 13) and Edwards' syndrome (trisomy 18) have been found in association with holoprosencephaly. There is an increased risk for the disorder in infants of diabetic mothers.

There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. For children who survive, treatment is symptomatic. Although it is possible that improved management of diabetic pregnancies may help prevent holoprosencephaly, there is no means of primary prevention.

HYDRANENCEPHALY is a rare condition in which the cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. Usually the cerebellum and brainstem are formed normally. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone (hypertonia). After several months of life, seizures and hydrocephalus may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits.

Hydranencephaly is an extreme form of porencephaly (a rare disorder, discussed later in this fact sheet, characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular insult (such as stroke) or injuries, infections, or traumatic disorders after the 12th week of pregnancy.

Diagnosis may be delayed for several months because the infant's early behavior appears to be relatively normal. Transillumination, an examination in which light is passed through body tissues, usually confirms the diagnosis. Some infants may have additional abnormalities at birth, including seizures, myoclonus (involuntary sudden, rapid jerks), and respiratory problems.

There is no standard treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt.

The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.

INIENCEPHALY is a rare neural tube defect that combines extreme retroflexion (backward bending) of the head with severe defects of the spine. The affected infant tends to be short, with a disproportionately large head. Diagnosis can be made immediately after birth because the head is so severely retroflexed that the face looks upward. The skin of the face is connected directly to the skin of the chest and the scalp is directly connected to the skin of the back. Generally, the neck is absent.

Most individuals with iniencephaly have other associated anomalies such as anencephaly, cephalocele (a disorder in which part of the cranial contents protrudes from the skull), hydrocephalus, cyclopia, absence of the mandible (lower jaw bone), cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, and gastrointestinal malformation. The disorder is more common among females.

The prognosis for those with iniencephaly is extremely poor. Newborns with iniencephaly seldom live more than a few hours. The distortion of the fetal body may also pose a danger to the mother's life.

LISSENCEPHALY, which literally means "smooth brain," is a rare brain malformation characterized by microcephaly and the lack of normal convolutions (folds) in the brain. It is caused by defective neuronal migration, the process in which nerve cells move from their place of origin to their permanent location.

The surface of a normal brain is formed by a complex series of folds and grooves. The folds are called gyri or convolutions, and the grooves are called sulci. In children with lissencephaly, the normal convolutions are absent or only partly formed, making the surface of the brain smooth.

Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, and severe psychomotor retardation. Anomalies of the hands, fingers, or toes, muscle spasms, and seizures may also occur.

Lissencephaly may be diagnosed at or soon after birth. Diagnosis may be confirmed by ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI).

Lissencephaly may be caused by intrauterine viral infections or viral infections in the fetus during the first trimester, insufficient blood supply to the baby's brain early in pregnancy, or a genetic disorder. There are two distinct genetic causes of lissencephaly - X-linked and chromosome 17-linked.

The spectrum of lissencephaly is only now becoming more defined as neuroimaging and genetics has provided more insights into migration disorders. Other causes which have not yet been identified are likely as well.

Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.

Treatment for those with lissencephaly is symptomatic and depends on the severity and locations of the brain malformations. Supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication and hydrocephalus may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.

The prognosis for children with lissencephaly varies depending on the degree of brain malformation. Many individuals show no significant development beyond a 3- to 5-month-old level. Some may have near-normal development and intelligence. Many will die before the age of 2. Respiratory problems are the most common causes of death.

MEGALENCEPHALY, also called macrencephaly, is a condition in which there is an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the infant or child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life.

Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is formed in the proper place at the appropriate time.

Symptoms of megalencephaly may include delayed development, convulsive disorders, corticospinal (brain cortex and spinal cord) dysfunction, and seizures. Megalencephaly affects males more often than females.

The prognosis for individuals with megalencephaly largely depends on the underlying cause and the associated neurological disorders. Treatment is symptomatic. Megalencephaly may lead to a condition called macrocephaly (defined later in this fact sheet). Unilateral megalencephaly or hemimegalencephaly is a rare condition characterized by the enlargement of one-half of the brain. Children with this disorder may have a large, sometimes asymmetrical head. Often they suffer from intractable seizures and mental retardation. The prognosis for those with hemimegalencephaly is poor.

MICROCEPHALY is a neurological disorder in which the circumference of the head is smaller than average for the age and gender of the infant or child. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities.

Infants with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head, a large face, a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and mental retardation are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others.

Generally there is no specific treatment for microcephaly. Treatment is symptomatic and supportive.

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

PORENCEPHALY is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth.

Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue. The presence of porencephalic cysts can sometimes be detected by transillumination of the skull in infancy. The diagnosis may be confirmed by CT, MRI, or ultrasonography.

More severely affected infants show symptoms of the disorder shortly after birth, and the diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (decreased muscle tone), seizures (often infantile spasms), and macrocephaly or microcephaly.

Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation. Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus. The prognosis for individuals with porencephaly varies according to the location and extent of the lesion. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.

SCHIZENCEPHALY is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly is a form of porencephaly. Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus.

In schizencephaly, the neurons border the edge of the cleft implying a very early disruption in development. There is now a genetic origin for one type of schizencephaly. Causes of this type may include environmental exposures during pregnancy such as medication taken by the mother, exposure to toxins, or a vascular insult. Often there are associated heterotopias (isolated islands of neurons) which indicate a failure of migration of the neurons to their final position in the brain.

Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt.

The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit.

So, as you can read, none of these devastating conditions have a very positive prognosis... that is, when you read the textbook "facts". Brayden, as you may have previously read, was actually thought to have holoprocencephaly or just "simply" poroncephaly prior to birth. It wasn't until he made his unexpected, since I was advised to terminate and he was not likely to make it to birth, debut in to the world that a formal MRI and diagnosis of hydranencephaly was made. Unfortunately, there are also even more rare forms of cephalic disorders as well, also from the National Institute of Neurological Disorders and Stroke:

ACEPHALY literally means absence of the head. It is a much rarer condition than anencephaly. The acephalic fetus is a parasitic twin attached to an otherwise intact fetus. The acephalic fetus has a body but lacks a head and a heart; the fetus's neck is attached to the normal twin. The blood circulation of the acephalic fetus is provided by the heart of the twin. The acephalic fetus can not exist independently of the fetus to which it is attached.

EXENCEPHALY is a condition in which the brain is located outside of the skull. This condition is usually found in embryos as an early stage of anencephaly. As an exencephalic pregnancy progresses, the neural tissue gradually degenerates. It is unusual to find an infant carried to term with this condition because the defect is incompatible with survival.

MACROCEPHALY is a condition in which the head circumference is larger than average for the age and gender of the infant or child. It is a descriptive rather than a diagnostic term and is a characteristic of a variety of disorders. Macrocephaly also may be inherited. Although one form of macrocephaly may be associated with mental retardation, in approximately one-half of cases mental development is normal. Macrocephaly may be caused by an enlarged brain or hydrocephalus. It may be associated with other disorders such as dwarfism, neurofibromatosis, and tuberous sclerosis.

MICRENCEPHALY is a disorder characterized by a small brain and may be caused by a disturbance in the proliferation of nerve cells. Micrencephaly may also be associated with maternal problems such as alcoholism, diabetes, or rubella (German measles). A genetic factor may play a role in causing some cases of micrencephaly. Affected newborns generally have striking neurological defects and seizures. Severely impaired intellectual development is common, but disturbances in motor functions may not appear until later in life.

OCTOCEPHALY is a lethal condition in which the primary feature is agnathia - a developmental anomaly characterized by total or virtual absence of the lower jaw. The condition is considered lethal because of a poorly functioning airway. In octocephaly, agnathia may occur alone or together with holoprosencephaly.

Another group of less common cephalic disorders are the craniostenoses. Craniostenoses are deformities of the skull caused by the premature fusion or joining together of the cranial sutures. Cranial sutures are fibrous joints that join the bones of the skull together. The nature of these deformities depends on which sutures are affected.

BRACHYCEPHALY occurs when the coronal suture fuses prematurely, causing a shortened front-to-back diameter of the skull. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull.

OXYCEPHALY is a term sometimes used to describe the premature closure of the coronal suture plus any other suture, or it may be used to describe the premature fusing of all sutures. Oxycephaly is the most severe of the craniostenoses.

PLAGIOCEPHALY results from the premature unilateral fusion (joining of one side) of the coronal or lambdoid sutures. The lambdoid suture unites the occipital bone with the parietal bones of the skull. Plagiocephaly is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. It is a common finding at birth and may be the result of brain malformation, a restrictive intrauterine environment, or torticollis (a spasm or tightening of neck muscles).

SCAPHOCEPHALY applies to premature fusion of the sagittal suture. The sagittal suture joins together the two parietal bones of the skull. Scaphocephaly is the most common of the craniostenoses and is characterized by a long, narrow head.

TRIGONOCEPHALY is the premature fusion of the metopic suture (part of the frontal suture which joins the two halves of the frontal bone of the skull) in which a V-shaped abnormality occurs at the front of the skull. It is characterized by the triangular prominence of the forehead and closely set eyes.

Reading some of these, which I have done a gazillion times, is a definite reminder to how fortunate Brayden is to "only" have hydranencephaly... oddly enough, the reason I have read these a gazillion times is simply to remind myself that it could be a million times worse for him than it is. 

What is an even more effective reminder of how "fortunate" Brayden is, comes from the growing network of families I remain in touch with whom have been affected by one or more of these cephalic disorders. An unspoken "bond", if you will, definitely exists amongst the people in this network... one that has created amazing comfort, provided extensive support, extended love & friendship across sometimes thousands of miles, instilled positivity and hope within myself that I have grown into a much more optimistic outlook than given on the beginning of our journey.

So, that likely explains my interest in not only hydranencephaly because my own son is living with it, but in the many similar conditions that exist as well. But, why have I become so overly passionate about raising awareness, educating more people, and sharing my own son's journey to hopefully reach others embarking on a similar one? 

Here is one example, from a link that was sent to me via Twitter, along with the message implying that I was crazy for thinking my son could be more than "nothing". This prognosis information, is probably the most pessimistic I have read online and can be attributed to the Disabled World Web site

Hydranencephaly Prognosis
The long-term prognosis for children with Hydranencephaly is poor. Rehabilitation is not something that is recommended for children with Hydranencephaly. Physical therapy may help to maintain their muscle tone as long as possible. Positioning aids may be used, when needed, and medications administered for both seizure control and the comfort of the child. Most children with Hydranencephaly die within a year, although is possible that a child with the condition could live past the age of ten years. The current oldest known survivor was twenty years and six months old.

"Rehabilitation is not something that is recommended for children with Hydranencephaly." This is sadly the belief of many medical professionals, but not exclusive to just hydranencephaly. I say this, not from hear-say, but from experience since I have been told myself that I should love, comfort, and enjoy my son for the days he has with me (he is now nearly 4 years old). Not one eyelash was batted at the idea of feeding him morphine, not to manage pain, but to keep him from crying and fussing once we took him home... I know it wasn't prescribed for pain, because I was also informed that he was incapable of feeling pain. Please remind me of that when he gets his next set of shots, ok?

Another example of why I am extremely passionate about raising awareness of these rare conditions: Astrid White and her mother Heather's Facebook status that reads, 

"~ Horrible horrible day no surgery bc some people think astrid doesnt have enough brain to survive and i should just let her now doctors are argueing with each other and i dont kno what to do ~"

Astrid is a wee baby, I'm not sure of her exact age but she's an infant, and she is at Tulane fighting for her life! She is living with holoprocencephaly (HPE) and her condition is the reasoning behind why the doctors do not want to treat her. 

"She doesn't have enough brain to survive..." is impossible to determine, I don't care what kind of "professional" or what field of medicine is your "specialty" because you can't predict that. If you are reading this, and you are under the assumption that this statement is likely true, that I'm rambling crazy talk... let me refresh your memory by directing you to one of my own previous posts:

And just in case you are not interested in the previously pointed proof, let me give you the jest of it...

Brayden, my son, is living with hydranencephaly and born without a cerebral cortex. He sees, he hears, he plays, he speaks, he breathes, he laughs, he loves... he LIVES. 

And there lies the root of my passion... please share this, follow... and most importantly I ask you to pray for the many other babies, and their mommies, fighting for their chance at life.

Monday, June 25, 2012

"Bee"-ography: We Believe

“There is nothing impossible to him who will try.” 
~ Alexander the Great

Friday, June 22, 2012

Flashback Friday: What Are We Fighting For?

Global Hydranencephaly Foundation has made considerable progress since it's incorporation a little over a year ago, but we are always faced with those who instead believe that our mission is hopeless. We even "meet" medical professionals who would rather assist in the "end of suffering" for children with hydranencephaly than help them live the best quality of life possible... think that doesn't happen, it DOES! 

We know our mission isn't a hopeless one, but sometimes it is good to remind ourselves what we are fighting for:

What Are We Fighting For?
By Alicia Harper
originally published at Small Portion of a Life's Journey, April 9, 2010

Sometimes, amidst the more common battles with autism, ADHD, cancer, and other more widely spoke-about conditions affecting children; conditions such as hydranencephaly are thought to be a hopeless cause, one unworthy of fighting for. Sometimes I battle with continuing to pursue the fight in changing the many misconceptions that exist in regards to the quality of life these children are living, and wonder if it is worth the effort to prove that education and more involvement in these children's lives will make all the difference when, in the end, the inevitable is going to happen. Will I feel like this time spent was worth it once the inevitable has arrived, and the end has come?

As a parent, everyone expects the same... and that isn't to outlive your own children. When the next minute is uncertain for your child, it leaves you wondering what you're fighting for... or it definitely has left me consumed with many hours of pondering.

I have settled on the fact that I, personally, am doing what is right for my child and hopefully helping some others along the way. Sadly, that has included me writing off the people who should help the most, medical professionals, as "experts" in my son's condition and looked to other parents for the advice and guidance I need. I've also found myself being very blunt when it comes to helping other families, sometimes it is welcomed and other times maybe not so much. It is hard for a family to contact me and say, "my baby is crying non-stop" while at the same time seeing pictures of their swelling head, while under the care of doctors who refuse to do a shunt placement surgery. I want to seek those doctors out myself...

But, from a parental perspective, I know what it is like. I know how it feels to hear the words, "your child is going to die, and soon." On the positive end, I also know what joy it brings when your child achieves a small goal that was never meant to be achievable. When your child recognizes you for the first time, when they smile when you say their name, when they communicate in ways that you never thought imaginable... all the smallest of things that are the biggest of accomplishments in a child who was supposed to live in a "vegetative state" with a condition deemed "not compatible with life."

If you have a child who was tagged these things, or even if you can't imagine what it would be like to face those words when applied to your child or someone else you love... the fight is worth every breath, every second of the effort. What would you do to face these predictions? Would you sit back and accept it, for fear of being in denial, or would you continue to fight despite who you may find yourself fighting against.

The following story I found this morning... surprising I have never read it before in all my searching. I do not know where this young man is, whether he still lives amongst us on Earth or dances amongst the angels. Regardless, kudos to his amazing family who never settled for acceptance in the only prognosis associated with hydranencephaly, and literally fought to save David's life against the medical "professionals" we entrust with the lives of our loved ones. You will likely be in shock when you read the following, however I wasn't the least bit... you should be in shock to know that this isn't a rare case. That many little ones, who's parents have accepted the diagnosis as "hopeless" as the drs have portrayed, have given up on a life worth living... how is this even acceptable?

David Glass, who lives in Portsmouth, was 19 years old on 23rd July 2005 – a major triumph for both him and his family. 

He owes the fact that he is alive to celebrate his birthday to his family, whose determination to protect his right to life literally saved him from being pushed into death by doctors. David has hydranencephaly and cerebral palsy. He is partially sighted, epileptic, cannot speak, and has profound learning disabilities. He needs help with feeding, washing and toileting. Even before he was born, doctors were writing him off as having a life “not worth living”.

When his mother Carol was 31 weeks pregnant, doctors at St. Mary’s Hospital in Portsmouth told her that he was “not compatible with life” – an odd term for a baby who was clearly alive at the time the supposed “diagnosis” was made. David’s birth was induced at seven months of pregnancy, and Carol was told that he was “stillborn.”

He was diagnosed as having anencephaly (a condition incompatible with sustained survival in which the higher brain is absent.) Carol argued with the midwife, trying to persuade her to resuscitate him because she could see that he was trying to breathe, but it was only when he began to cry, 55 minutes after birth, that he was taken to the Special Care Baby Unit and put on a ventilator. The doctor at the SCBU told Carol that David would not survive if he was taken off the ventilator. Inconsistently, he also told her that David would be deaf and blind and “just a shell.”

Eventually David was taken off the ventilator, and, after initially having problems breathing, he started to breathe independently, and shortly afterwards he was allowed to go home. Since then, David has been cared at home by Carol, and the whole family are involved in his care. Carol says:

"I don’t find him demanding at all. He is a very happy boy. I made the decision soon after he was born that if he wanted to live, I’d always fight for him and that’s what I try to do. David gives me love and honesty. When he smiles, I know it’s not because he wants a bag of sweets, it’s because he loves me. He represents everything that is good in the world. He doesn’t have an evil thought … He is just a genuine, nice kid."

In July 1998 David developed “noisy” breathing, and was taken into St. Mary’s Hospital, Portsmouth, where he developed three types of blood poisoning and candida (a fungal infection.) After 23 days, he was put on a ventilator, but soon removed from it, as doctors said he was dying. They refused to follow Carol’s wish to have him put back on the ventilator. David rallied, and was sent home and readmitted several times, each time becoming more ill.

On October 20th 1998, doctors suggested putting David on diamorphine (the medical name for heroin)“to alleviate terminal distress” which Carol refused. She asked for David to be treated “like any other child.”

David’s hospital notes show that she was told that in “any other child like David (i.e. handicapped) we would not (give intensive care) but offer morphine and “TLC” (“tender loving care”)”

Carol indicated that she would want David resuscitated if his heart stopped. The doctors insisted that David be given diamorphine, saying that if Carol took him out of the hospital, she would be arrested and a “Child Protection Order” put on David. His hospital notes were marked “not for resuscitation.”

The notes also list as part of his diagnoses “demanding family.” It is clear that this is not a "diagnosis” but a value judgment on a family whose only wish was to keep David alive. It is disputed how much diamorphine David was given. Perhaps conveniently, some of David’s notes went missing, so it cannot be proved how much morphine he was given, or when. However, it is likely that a very large amount was prescribed. What is indisputable is that the hospital indicated that unless the family allowed diamorphine to be given, the police would be instructed to “remove” them.

On 20th October 1998 a diamorphine drip was set up with the aim, according to the Senior Administrator of the hospital, of letting David “die with dignity.” The family watched him turn blue and lapse into a coma. Carol said that if David were really dying, she would like to take him home. A policewoman, who had been called by the hospital told her that if she attempted to remove David from the hospital, she would be arrested. Carol’s family took matters into their own hands. Diane Wild, David’s aunt unplugged the diamorphine drip helped by Ray Davis, David’s uncle. Other family members desperately tried to resuscitate David, blowing raspberries in his ears, rubbing his legs and lifting him out of bed. Their actions caused a confrontation with Dr. Joanne Walker and Dr. Mark Ashton. The doctors refused to stop the diamorphine, saying there was nothing more that could be done and that “nature should be allowed to take its course.”

A fight broke out between Ray, Diane and Julie Hodgson, another aunt, and two doctors, Dr. Joanne Walker and Dr. Mark Ashton were, allegedly, attacked as the family tried to save David’s life. Later that night, the hospital said they did not want to treat David any more. Carol says the staff appeared not even to remember David’s name as they told her, “You can take Richard home” - even though they had no antidote to the diamorphine and David still needed oxygen. David’s own GP, Dr. Richard Hughes, came to the family home to give him an antidote, and that night ten family members stayed awake around his bedside. Carol says, “It took about 8 weeks before we felt confident he wouldn’t die at any moment.”

David’s uncle and two aunts, Ray, Julie and Diane were later charged with causing actual bodily harm to Dr. Walker and Dr Ashton, and violent disorder. On 14th July 2000 Judge Roger Shawcross passed jail sentences on them all. Diane was jailed for 12 months and Julie & Ray for nine months. In sentencing them, the Judge said (The jury) did not regard you as heroes. Most people would regard what you did as quite outrageous. You showed no regard for those doctors… I accept that your absences will be detrimental to (David’s) care, but it’s your fault that David has suffered and yours alone.

He failed to note that had it not been for their actions David would have died. In effect, Ray, Julie and Diane were punished for saving David’s life. During the trial Dr. Mark Ashton, one of the paediatricians who claimed to have been assaulted by the three family members had claimed that due to “permanent ligament damage to his right knee” sustained at their hands, he was no longer able to ride his bicycle or take part in sports. Yet on the “Children’s Ward” BBC TV programme, Dr. Ashton was shown riding his bicycle down Portsdown Hill in Portsmouth. Clearly his injuries were not as severe as he claimed in Court.

In an interview with the Hampshire Police, Dr. Joanne Walker acknowledged that: …using morphine in severe respiratory failure may shorten life, but we knew that David’s death was inevitable be it then or in months or years and there fore acting in his best interests and looking after him at the time was paramount.

From police reports, Dr. Walker noted that she and Dr. Ashton “felt…this really was the end for David, we really wanted his death to be peaceful and dignified.”

What she did not acknowledge was that she and Dr. Ashton were wrong. David was not dying, though had the family not acted her “feeling” that he was dying would have become a self-fulfilling prophesy.

The Court of Appeal eventually reduced Ray, Julie and Diane’s prison sentences by half. However, in doing so the Judge made it clear that the shortening of the sentences was solely in consideration of David’s needs, since Carol needed their help for his day to day care. He insisted that there was no implication that the original judgment was wrong or excessive.

A doctor who has treated David and who preferred not to be named said of the fateful decision to put him on diamorphine: He was recovering and getting back to normal. I am astonished that diamorphine was used in a case like this, with a child. I sometimes think that there is almost a different set of rules for the very disabled. Among some members of my profession there is almost a presumption that the right to live doesn’t apply to that group of patients.

Dr. Philip Howard spoke for many when he said, “While one cannot condone violence against doctors, neither should society or the courts allow violence against patients.”

He noted the crux of the whole case – that the only “crime” committed by David’s family had been
“to defend the defenceless.” 

It is only because of their actions that David celebrated his 19th birthday on 23rd July 2005.

Wednesday, June 20, 2012

Thankful Thursday

It goes without saying, but we want to say it anyways... we LOVE our volunteers! Our foundation is volunteer-driven and we have been extremely fortunate to have a strong, dedicated, and motivated team of individuals who volunteer their time, talent, and passion to Global Hydranencephaly Foundation.

Some are motivated by altruistic values. 
Some seek social justice. 
Others see service as a way to enable a democratic political system.

Whatever your reason, we believe volunteering can transform you and the world around you.

We are always welcoming individuals interested in dedicating volunteer hours to help us on our mission. If you are interested, please contact me at: 

Just some ideas of ways you can help:

~purchasing awareness merchandise; the funds help with our finances while displaying whatever item you choose helps spread the word about hydranencephaly and our foundation
~asking local sources of information in your communities if they are willing to share our foundation brochures in their offices; either on a bulletin board, resource display, or simply lying on the counter at check-in
~donating the product of your talent or hobby to either help our families or help us raise funds to meet our goals
~manning fundraisers in your own community; participating in local disability resource fairs
~simply sharing our web site, facebook page, twitter account, or YouTube channel with your own family & friends
~volunteering participation on one of our committees: we currently have active committees in Family Support, Marketing, and Research/Media
~...and those are just a few ideas

Not sure you want to volunteer?

Part of being a great volunteer is loving what you're doing. Find something that you're passionate about or something that inspires you, and then find a need in your community. There are dozens of reasons why you should volunteer - you just need to find the one that feels right.

20 Great Reasons to Volunteer

Help others
Make a difference
Find purpose
Enjoy a meaningful conversation
Connect with your community
Feel involved
Contribute to a cause that you care about
Use your skills in a productive way
Develop new skills
Meet new people
Explore new areas of interest
Meet good people
Impress your mom
Impress yourself
Expand your horizons
Get out of the house
Make new friends
Strengthen your resume
Feel better about yourself
**your own personal reason here**

And to those who have volunteered, whether it be just a few minutes or countless hours/days, we are so grateful to have you along on our journey. 

Photo courtesy of Bee Spoke

Wordless Wednesday: Daddy & Bee

Sunday, June 17, 2012

Daddy & Bee: Happy FATHERS Day!

From your little bee...

image courtesy of 

"Dad, I may not be the best, but I come to believe that I got it in me to be somebody in this world. And it’s not because I’m so different from you either. It’s because I’m the same. I mean, I can be just as hard-headed, and just as tough. I only hope I can be as good a man as you." 
~Jake Gyllenhaal as Homer Hickam in October Sky

Happy Fathers day to our hydran-daddies... thank you for all you do to support, encourage, and unconditionally love your families. May you enjoy your day!!

Friday, June 15, 2012

Flashback Friday: Deja Vous

This post, as I'm clearing out the final posts at my first blog, is just far too fitting for the week I have had. Though it is over 2 years old, the emotions are clear and still ring true today... as do the struggles:

Vicks Rubdowns, Humidifier Refills, Nebulizer Dates, Saline Nasal Spray & Bulb Syringe Wars, Pedialyte Force-Feedings... REPEAT!!

By Alicia Harper, Small Portion of a Life's Journey, January 19, 2010

The title has been the extent of my last 24 hours straight, minus the sporadic 4 hours of sleep I managed to squeeze in last night and plus the other random duties of mommy-hood to three and wifey-hood to one. Let me point out that it is currently 2:47 a.m. and my sweet 'lil man has finally comfortably crashed for the night in his bean-bag bed I made for him after finding relief in a flurry of helpless attempts at suppressing his cough. I'm not sure what finally worked to settle him, or if he is finally just too exhausted to cough... either way, we're camping out in the living room tonight.

I could finally make an attempt at sleep, yet now I sit here trying to wade through the fog of emotions inside my head, jumping at every little wimper or noise Brayden makes. I am clearly exhausted, but insomnia wins again... Insomnia or the unsettling worries that I'll miss a gasp or a choke and fail to help my little man, while validating my feelings of helplessness at the same time. Why do I get so uncontrollably scared that I will miss something and fail him? Fail by not helping him fight...

I despise these times when Brayden is sick. Everyone in my house has been sick the last couple of days, including myself, but my 'lil man is the one I worry over the most. I always feel helpless when I cannot take my kids' pain away, but when the fight is bigger, as it is with Brayden, the feelings of helplessness are greater. Taking him to the doctor has proven to be a waste of time, x-rays and tests and they always tell me the same thing, "Considering his condition (hydranencephaly), this is to be expected. Keep doing what you're doing, and wait this out." I know that nothing with hydranencephaly is truly "to be expected". I really wish someone could give me a cure-all, or at least cut the little guy a break. Isn't living with a condition deemed "terminal" and "incompatible with life" enough for a child to bear without the woes of incessant coughing, struggling to breathe through a stuffed up nose, crying inconsolably for relief from the teething pains, while only making the coughing and congestion that much worse in the process of crying? Why do the hurdles seem so high for him at times?

Yet, unlike me, Brayden is completely unaware that this is a greater obstacle for him. He casually seeks out comfort, he knows I'm here the second he needs me... and rewards me with a smile through it all. Despite the exhaustion I feel, and the helplessness that I cannot make him better, that smile melts it all away. The fact that he can lay in my arms looking completely miserable, yet that simple gesture expresses such a great amount of comfort and relief in him. Every little wonderful moment like this teaches me a huge lesson in life... now if only I could use those lessons and not let the stress of every tumultuous moment of my own life overwhelm me. Even obstacles can be seen as opportunities... he keeps me strong, just when I think I cannot be strong anymore.

Thursday, June 14, 2012

Thankful Thursday: Happy Birthday

That's right, on this day in 2011, our foundation Brayden Alexander Global Foundation for Hydranencephaly was formally incorporated... it is our first birthday! We all look forward to what our second year has in store for us with the planning of our conference slated for our second birthday, as well as receipt of our 501c3 status and many more families to reach and awareness to be brought. Thank you all for your tremendous support!

*be sure to stop the player at the bottom of our blog so as to hear the audio included in the video!

Sunday, June 10, 2012

Bee-ography Monday

This week's bee-ography comes to us from Abel's mommy, Amanda. Thanks so much, Amanda for sharing your sweet boy's story with us!

My sons name is Abel D. Johnson. He was born on October 19, 2011. He was born with a rare diagnosis of Hydranencephaly. I had no clue what that was. When they first told us of his diagnosis I was still pregnant. 

At this time my husband was deployed to Iraq. We were devastated, this was our first child and all I knew about his diagnosis is that the Dr. told us he had no chance at life. No parent wants to hear that about their unborn child. 

I still had no clue exactly what my son had. I went into a Dr. appointment with so many questions and I was just confused. That's when they told me he had Hydranencephaly. 

They said my son would probably not live past birth and that if he did he would not make it past a year old. They also told us he would be deaf, blind, and a vegetable. He would not recognize us, learn, or talk. 

We truly did not know how to take it or how to react. I know I cried allot. I know my husband was devastated. So when I went into labor early we really weren't prepared to take home a baby. They all told us we wouldn't be taking him home. 

When Abel came into this world it was heartbreaking. He did not breath at first. I remember the smallest cry. I think me and my husband where overjoyed. He was breathing on his own that's all I cared about. 

He had another MRI done when he was a couple of days old to confirm his diagnosis. We were able to take him home after two weeks of being in the nicu. 

Abel is now 7 months old. He is the greatest miracle that me and my husband could have ever asked for. We have had plenty of scary situations. At a month and a half he stopped breathing on us. Of course when we got to the hospital he started breathing fine. My son loves to keep us on edge. At 5 months he had his shunt placed. 

The most recent thing we are dealing with is his stomach issues. We went to the hospital on May 10th because he wasn't eating very well and his sodium levels where really high. While we were at the hospital the doctors let us know that his digestive system is starting to shut down. That it is not processing or getting rid of the food we put in. The only thing they could do for our son is put in a j tube or have a mickey button placed which means surgery. The doctor let us know that both would be temporary solutions. He said his stomach would completely shut down and then his intestines would no longer work. Me and my husband made the hardest decision of our lives. We decided to take him home. we couldn't bear the thought of another surgery or having more hospital stays. Abel was miserable he was getting poked every six hours sometimes by vein and mostly by cutting his foot. He wasn't sleeping and cried constantly. He looked miserable he wasn't happy and I could see it in his eyes. So we brought him home to spend as much time with him as possible. 

We love Abel so much and I don't know what I would do without him. Our little miracle he truly amazes us and all his doctors on a daily basis. My son is my hero because he does the impossible everyday, he lives with only brain stem and very little brain matter. He does what everyone said he wouldn't. When no hope was given my son showed us the way. For that I can only thank him because he showed me how to live no matter what is said. Yes my son has Hydranencepahly, but I have learned that this doesn't define my son! My son has defined his diagnoses as to what he wants to do not what they said he would do. You have to love the little fighter or as allot of my husbands army buddies call him our little "cav scout".