Spinal Muscular Atrophy (SMA)

Overview:

Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers. 

Symptoms:

SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.  

Testing/Diagnosis:

Stella had and EMG and genetic testing which confirmed her diagnosis.  Soon after, she lost her swallow which required the gtube, as well as a bipap at night/naps since she cannot exchange her CO2/O2 well on her own.  She also uses a cough assist, suction, and we eventually switched from a bipap to a trach.

Treatments:

There is no treatment for SMA but proper management of respiratory care and diet (and a whole lot of prayer) have gotten Stella to where she is today!

Resources:

More info can be found at fsma.org.

Stella's Story:

Stella was born on March 28, 2007 weighing in at a healthy 9 lbs 11 oz. At one month of age, she lost all muscle tone and we started our journey with Spinal Muscular Atrophy (Type I). They said she would live weeks or maybe months . . . but look at her now! 

I'm so thankful to tell you that Stella will be celebrating her 5th birthday in a couple months!  She attends preschool and drives her powerchair with just the use of her fingers!  She has two brothers that love her more than anything and she's a blessing to all she meets!

Stella's story is that of a little "star" (that's what her name means!) who has touched so many lives. While there are some bumps in the road, we hope that Stella's life is a story of hope and the miraculous power of God. Through her, we have learned much about strength, courage, and the incredible healing power of our Lord. You can almost SEE the angels that are always wrapped around our little girl through all that she has been through. She handles it with ease and will ALWAYS be our little star.  

Contributed by MOM Sarah Turnbull - to read more about Stella check out her Carepage

Tyrosine Hydroxylase Deficiency Dopa Responsive Dystonia

Overview:
Tyrosine hydroxylase (TH) deficiency is a rare metabolic disorder characterized by lack of the enzyme involved in converting the amino acid tyrosine to L-dopa. L-dopa is an important chemical in producing dopamine in the brain. Dopamine is the major neurotransmitter which facilitates motor control and movement. A neurotransmitter is an important chemical messenger that helps nerve cells to communicate properly to each other. TH is a critical enzyme in normal dopamine production, and when it is not working properly to produce enough dopamine, major neurologic abnormalities can occur. In addition, dopamine is also important in making two other important neurotransmitters in the brain and body, norepinephrine (noradrenaline) and epinephrine (adrenaline). When dopamine is critically low, these neurotransmitters may be low too. They play important roles in the brain in regulating attention, and they help to maintain normal blood pressure, body temperature and blood sugar .

Symptoms:
Mild: 
In the mildest cases, walking or running may be clumsy but little else may be noticed, at least initially. These symptoms may progress slowly as the child gets older, and may not initially be apparent. Sometimes, one side of the body may seem weaker, or the child may begin to walk up on their tiptoes due to some tightness of the leg muscles. Sometimes these children are diagnosed with cerebral palsy; other times they are simply considered clumsy or uncoordinated. Sometimes these children demonstrate some attentional difficulties in school. Essentially all children with mild symptoms are readily treated with medication.

Moderate: 
In moderately affected cases, the child may not be able to walk at all, or walking may be extremely difficult. Many children demonstrate unusual arm posturing or positions of their arms with attempts to walk or walk on their toes. Speech delay may be present. Many of these children are diagnosed with cerebral palsy of unknown cause. Some of these children may have involuntary eye movements problems. The majority of these children have an excellent response to treatment, but full benefit may take many months.

Severe: 
In the most severe cases, children are disabled and affected from early infancy. This is sometimes known as the infantile Parkinson’s disease variant. infants may demonstrate muscle tightness and rigidity, arching, tremor and poor muscle control, abnormal eye movements which may include involuntary eye deviation upward, downward or towards the nose. They may be diagnosed with intermittent strabismus (cross-eyed). They may have ptosis, or droopiness of the eyelids. Severe gastro problems at birth. delay, or difficulties feeding, chewing or swallowing. Constipation is common. While most children tend toward increased muscle tone (in the legs especially), there are children who have generalized low muscle tone, with poor head control and inability to sit unsupported. They may have torticollis, or involuntary deviation of the head and neck. They may have difficulty directing their hands to a toy, generating a flinging hand motion. Occasional children have been found to suffer from intermittent color changes, unexplained low body temperature or fevers, low blood sugar, and difficulty regulating blood pressure. These symptoms are more likely to occur during another illness the child may be experiencing. Children in the more severely affected group of patients are more difficult to treat, and several medications may be needed to treat symptoms. They are unusually vulnerable to side effects of the medications, which can result in excessive movement and irritability. Response may be slow, with some continued benefit over months to years, but may not result in the complete resolution of all symptoms.

Who gets TH deficiency?
It is unclear at present whether males or females are affected any differently. Only a few dozen cases have been identified to date worldwide as of 2008.

Testing/Diagnosis:
How is TH deficiency diagnosed?
At present, the only reliable and readily available way to diagnose TH deficiency is by analyzing the cerebrospinal fluid for neurotransmitter metabolites. This means your doctor will need to perform a spinal tap to obtain this fluid for analysis. It has to be carefully handled and placed on ice immediately or the results will not be valid. Therefore, it is important to find a doctor who is comfortable in performing this procedure. Once the diagnosis is suspected on the basis of cerebrospinal fluid studies, the diagnosis should be confirmed by analysis of the TH gene itself. This is because the study of the spinal fluid may lead one to strongly suspect the diagnosis, but there are other reasons why the spinal fluid dopamine metabolite levels could be low, including neurodegenerative disorders which lead to a loss of the cells in the brain that produce dopamine. Therefore, if your children has atypical clinical symptoms including seizures, oror fails to respond as expected to treatment, other disorders need to be considered. Your doctor will work with you in helping to sort out these issues.

How is TH deficiency treated?
The most well-established treatment for TH deficiency is to provide L-dopa to help restore normal dopamine levels. Dopamine itself cannot cross the blood-brain barrier directly, and so it is necessary to treat with a compound called L-dopa. L-dopa must be combined with another medication, carbidopa, in order for it to get into the brain properly. There is a commercially available medication called Sinemet which contains both carbidopa and L-dopa together in a single tablet. However, this preparation was designed to treat adults with Parkinson’s disease, and the dosage is much too high for many infants and young children with TH deficiency. Therefore, we often ask a pharmacist to order and compound special doses of L-dopa and carbidopa for our patients with this disorder. In general, it is advisable to start with no more than 5 to 10 mg Ldopa, combined with at least 15 to 25 mg carbidopa per dose depending on the size, age and severity of symptoms in the affected child. For some reason, the recessive form of dopa-responsive dystonia is very different from the dominantly inherited form in that children are much more likely to get excessive movement or irritability from low doses of L-dopa. Excessive starting doses of L-dopa can result in extreme irritability, sleeplessness or excessive sleepiness, vomiting or sudden intermittent or sustained jerking and twitching movements which can persist for several hours following a single dose. In children who are severely affected, less than one year of age, or prove intolerant of low dose L-dopa therapy, we typically recommend initial use of an anticholinergic agent such as trihexyphenidyl (Artane) to help reduce excessive muscle spasticity or rigidity. Anticholinergic agents can work in conjunction with dopaminergic agents to smooth out movements and reduce tremor. Adjunctive agents also include selegeline (Eldepryl), which is a monoamine oxidase Binhibitor which helps slow down the breakdown of dopamine in the body. Selegeline can greatly extend the timespan associated with L-dopa treatment, but can result in excessive movements; nausea, vomiting or reflux, or sleep disorder. It should generally be used only early in the day. There are other agents that your doctor may consider with similar mechanisms of action, and may be appropriate in the treatment of your particular child. It is important to remember that these agents all work together,  and the presence of side effects doesn’t necessarily indicate that a particular medication is bad, just that it or others need to be adjusted appropriately for your child’s needs. Physical and occupational therapy can be very helpful, particularly during the period of institution of medication to help your child adjust to the medications. Speech therapy is also indicated in some children.

References/Resources:
Althini S, Bengtsson H, Usoskin D, Soderstrom S, Kylberg A, Lindqvist
E, Chuva de
Sousa Lopes S, Olson L, Lindeberg J, Ebendal T. Normal nigrostriatal
innervation but
dopamine dysfunction in mice carrying hypomorphic tyrosine hydroxylase alleles.
Neurosci Res 2003 May 15;72(4):444-53.

www.pndassoc.org

Kathryn J. Swoboda, M.D. is a neurologist and geneticist working
closely with the PND association to establish a clinical database of
patients and families with TH deficiency to help us better understand
this disorder. Please contact Dr. Swoboda, Dr. Reyna or any of our
clinical coordinator associates if you, your patient or a family
member are interested in participating in the TH database and related
studies. Telephone: 801-585-9717, email swoboda@genetics.utah.edu

Olivia's Story

I had some complications through pregnancy starting around 34 weeks with non movement. We went through the normal procedures of stress test and the doctors agreed that I had passed all of them and sent me home. At 39 weeks I was induced and Olivia was born on August 4th 2010 @ 2:16 PM She was 7lbs 5oz and appeared to be healthy. The first couple of days was testing for me I knew that it was not ...normal that a child was throwing up as much as she was. The doctors said it was nothing to worry about that she just had extra fluid on her stomach making her sick. A week passed and I noticed that Olivia was sleeping 21 hours a day and still not keeping food down. She was looking skinny and pale. I made appointment with the peditrcian where he informed me that he was concerned about Olivias stomach and that she needed to go for a ultrasound. At our surprise Olivia's US came back normal. After finding nothing they scheduled her for a video swallowing study once again everything appeared normal. We were stumped and sent home. The months following would prove I wasnt worrying for nothing. Olivia went to high calorie formula and she was eating a half a ounce every half hour I couldnt even set her up or throw up would hit the wall. Frustrating YES! Around six months Despite the throwing up I started working with olivia in some of her motor skills. I notced her fist stayed clinched and that her legs were tight and in a frog leg position and I couldnt striaghten them. People started noticing that she was a little behind. We bruished it off as tummy problems but I was actually in denile.

At her nine month check up the doctor examined her and asked me normal questions is she sitting? no. Is she Rolling? No. and obviously not crawling. He stepped back and scratched his head and gave me a referal to First Steps Intervention. He didnt really give me an explanation why she would be delayed in all motor skills. During my consulatation with the PT she agreed with me that Olivia needed to see a Ortho and a Neurologist. We made an appointment with a Ortho where again he said everything is fine with her bones but she needs to see a Neurologist. That was the 2nd time that I had heard a Neurologist. To think that my daughter may have something wrong her brain saddened me deeply. 

In august 2011 we made an appointment with Cincinnati Childrens. It was a Saturday Clinic. We were there four hours where he gave her an extensive exam. When he was done I can remember asking "Could this just be a delay, and she will catch up?" He said unfourtnanly I do not think so . I think one of three things is happening with Olivia. One she could have CP, two it could Muscular Dystrophy, or three a mitchondrial disease. I clinched my teeth and lips tightly. He said Lets go ahead and scheduled a MRI and Bloodwork up. When he left the room to get the paperwork I threw my head in my hands and cried deeply. I can remember Roger wrapping his arm around me and saying "We will make it through this" I started blaming myself. Did I do something wrong during pregnancy? The end of August after celebrating her first birthday Olivias MRI was done. When Childrens gave me the results they simply said your daughter seemed to have a stroke and has CP. They told me hey its not progressive so she will only get better. OF course I cried. She was in PT OT and DI. They fitted her for AFOS in October where her ankles seemed to stablelize some. I was happy. Late October we Had went for Pizza and as we were leaving the Pizza place Olivia was screaming in a Unfamiler scream! All the way home she did this. When I got in the house I noticed Olivias leg was locked at the knee and I couldnt straighten it out It was extreamly scary. I called the PT she said don't worry its just a spasm from the AFOS lots of heat should take care of it. I called the doctor and he said he was concerned to video tape it. I did and emailed it to him. I received a phone call as soon as he seen the video and said get her in here. She is having Dystonia.

After extensive research on his part he came up with a few answers. It is rare for a child her age to have dystonia epsiodes like her. He decided to start her on a trial of sinamet (parkinsons meds) to see if she responded within days. I seen a new Olivia and no dystonia it was if she had been healed. Her anxiety and sensory issues seemed to be less. After three weeks of improvment Olivia was taken off Sinamet to prepare for a spinal tap to check the Levels of Dopamine in her CSF. The week off the medicine was miserble she went right back to dystonia and it came mostly in the evening. She was in pain. The doctor moved her Spinal up a week. He said if we waited she would be in the hospital. The spinal results are back. Normal dopamine in a child her age are 120-160 Olivias was 22. Wow! How wonder she cant move. They knew then that Olivia had been Misdiagnosed with CP.

We now know Olivia suffers from a rare neurotransmitter disease that effects the production of dopamine in her brain. Tyrosine Hydroxylase Def . It mimics CP. When they body doesnt convert certain enzymes to dopamean the body starts to go haywire. Your brain stops commnicating to your muscles. Your muscle become stiff causing painful episodes of dystonia. Olivia continues medication ( sinamet) same medication as parkinson paitients that help control symptoms she takes four times daily.  She is in Pt, OT, and DI weekly and is getting ready to see a special dystonia therapist at Childrens hopsital.  She is 18 months and has not taken any independent steps but has a walker and does crawl. She is a very determined baby. We have good and Bad Days. Although the medication controls symptoms it is far from a cure. Olivia's Symptoms are only reversed around 60% we believe they may increase to around 75% with therapy.  Olivias nuerotransmitter disease is expected to progress through the 2nd decade of life making mobilty a challenge everyday. Usually the onset of symptoms appear between age 6 and 9. Olivia has the rare form of infancy onset effecting less than 50 people worldwide. It effects movement, mood, anxiety, and sensory. Little is known about Tyrosine Hydroxylase Def DRD but it is being researched daily, and its my goal to spread awareness. I didn't choose this road but I know God has it laid out perfectly for Olivia and our family.

Contributed by MOM Melissa Phelps

Undiagnosed

As part of Rare Disease Day, Mommies of Miracles would like to take a minute to recognize those of us that are still looking for answers.  Medicine advances everyday, yet there are still many of us dealing with conditions so complicated and rare that we are not able to get answers and help we need.  Below we share one family's story of their struggle to get a diagnosis for their son.  Please, while reading this post, try to think if you have any information or suggestions that may help this family.  If you do, you can comment here and/or email Mommies of Miracles.

My son, Joaquin, suffers from a rare, undiagnosed condition.  We are desperately searching for answers.  Below I will go over some of the things that we are seeing with my son, and hopefully someone out there can recognize some of these and provide us with some new ideas.  Thank you in advance for any help.

Here are 2 short videos that show Joaquin before and after:
Before
After

Symptoms 
tremors, generalized rigidity, foot deformity, microcephaly, swallowing and chewing problems, language problems, unusual eye movements.  He was a born a normal, healthy child.  These issues did not start until he was 3 years old- he just turned 4. 

Test/Diagnosis 
We have had MANY test run.  He has a normal MRI, analysis of laboratory normal neurotransmitters klinicum German Universities by lumbar puncture, quantification of blood and urine amino acids in normal, normal metabolic diseases, normal lactic acid, urine organic acids in normal, normal EEG, ultrasound normal abdominal, IVX normal, PKU normal, prolactin normal, normal celuloplasmina, copper in normal blood, normal cariograma, t3, t4, tsh, and normal PTH, vitamin B12 normal, uric and lactic acidu normal, rx thorax, pelvis, and extremities below normal, normal bone scintigraphy, normal somatosensory evoked potentials, resonance servocolumna normal, normal ammonium, total CK normal, normal ferritin c3c4, epstein barr normal PCR mycoplasma normal, simple normalherpes cytomegalovirus PCR 1 and 2 negative, negative virus type 6 erpes , Lupico anticuagulante normal, normal ASO, etc, etc, we will miss all, all tests, and are normal, we need only the genome sequence to drain hope.
 
Treatment
The only treatment he is currently receiving is grifoparkin (L-DOPA) 30mg a day
 
 Resources 
Clinica Las Condes, Indisa clinic, clinic davila, clinic san maria, san jose hospital, hospital j aguirre, Robert hospital river, hospital, clinic or Catholic. In Chile there is an entity specialized in these cases, no clinics around the country have been able to give a diagnosis for my son's illness. single entity but only REHABILITATION support is the telethon.


If any of the details in this description sound familiar to you, please post a comment and/or email Mommiesofmiracles@gmail.com.  This family needs our help.  Thank you, and hopefully together we can help make a difference for Joaquin.

Contributed by MOM Ignacio Garcia Collins

Dandy-Walker Syndrome

Overview: 
Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

Symptoms: 
The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

Tests/Diagnosis: 
Dandy-Walker malformation is best diagnosed with the help of ultrasonography (US) and magnetic resonance imaging (MRI). US may be the initial examination performed because it can be done portably and without sedation, as well as allowing multiplanar imaging.[19, 20] US, however, is limited because it is heavily operator-dependent. Abnormalities such as the gyral, dural, tentorial, and skull anomalies that accompany Dandy-Walker malformations are not clearly depicted by US.
Treatments: Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain. This will reduce intracranial pressure and help control swelling. Parents of children with Dandy-Walker Syndrome may benefit from genetic counseling if they intend to have more children.

Resources:  

http://www.dandy-walker.org
http://www.hydroassoc.org
http://www.rarediseases.org
http://www.ninds.nih.gov

Will's Story: 

In May of 2011 we were blessed with a healthy baby boy. It wasn’t until he was 4 weeks old that we started having concerns about William’s health. He wasn’t eating enough to gain weight, he was extremely pale, and his eyes were sunk back into his head. It was then that he was diagnosed with failure to thrive and hospitalized.  While in the hospital they performed many tests in an attempt to discover why Will was not growing.   The tests revealed nothing more than a healthy baby boy.  While in the hospital they developed a special high calorie formula to try to get him to gain weight.   After a week his weight was gaining slightly and we were sent home with the high calorie formula and no answer on what was causing the failure to thrive.   A month later he was hospitalized again for not gaining weight.   More tests were run with no answers and we were sent back home again with a high calorie formula and more questions, but no answers.   A month later we back on the same course and back in the hospital.  After another week they could not find anything wrong and sent us back home.

At this point we have been in the hospital three times with no answers.  So at this point we took our Doctors advice and fired them.  Next we found a new pediatrician.   The new doctor was the same as the others because she too did not know what was wrong with Will.   The difference was this doctor took an aggressive approach to my child and began setting up appointments with a series of specialists.   The semi breakthrough took place after the appointment with neurology.   An MRI was run.   The results showed a malformation in the cerebellum know as Dandy-Walker syndrome.   In other words his brain did not develop normally which causes delay in development of motor skills.   It was only a semi breakthrough because the doctor firmly believes that the Dandy-Walker is not the only cause but instead is a symptom of a greater problem.

In September Will had surgery to put in a feeding tube and a Nissan.   Both procedures were a success.  The Nissan has helped with Will’s acid reflux.  And the feeding tube allows us to feed Will small amounts over a large time span.   This has allowed Will to gain weight and continue gaining weight.

The new diagnosis is leaning towards disease of the cilia.   Ciliopathy is a genetic disease in which the cilia of the body do not work correctly.   Unfortunately there is no cure for cilia related diseases.  Only treatment is of the symptoms that appear.

Through Will’s journey I have learned to never give up and always fight for your little miracle.

Contributed by MOM Admin Natalie Albers

Hydranencephaly

Overview:  
Hydranencephaly is a cephalic disorder, which is a congenital condition that derives from damage to or abnormal development of the fetal nervous system. (cephalic is the medical term for "head" or more precisely "head end of body"). It is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres. Hydranencephaly presents itself as the absence of the cerebral hemispheres, which are replaced by sacs of cerebrospinal fluid (CSF)... these children are missing most, if not all, of their cerebral cortex (gray matter). Generally the cerebellum and brainstem are formed normally, though some cases present with an absent or smaller than normal cerebellum as well. There is no definitively identifiable cause, though some cases have been attributed to a variety of hereditary or recessive genetic conditions, environmental factors such as maternal infection (toxoplasmosis and viral infection), pharmaceuticals, or extremely high levels of radiation. Other cases are associated with twin-to-twin transfusion causing neurological damage to the surviving or stronger twin; and the most likely general cause is by vascular insult such as a stroke, injury, or other traumatic disorders after the first trimester of pregnancy. While many children with hydranencephaly also have hydrocephalus (accumulation of CSF in the ventricles), the conditions should not be confused with one another. Hydranencephaly does not discriminate, inflicting both males and females in equal numbers. 

Symptoms: 
Symptoms do not always present themselves at birth. Oftentimes the infant appears typical for months prior to diagnosis. Others may have additional abnormalities that are present at birth, including seizures, myoclonus (involuntary sudden, rapid jerks), respiratory problems, and possible detected vision/hearing impairments. Some infants may have some distortion of the skull and upper facial features due to fluid pressure inside the skull associated with hydrocephalus, while others still seem normal; presentation is dependent upon the severity in most cases. Eventually the child, with or without initial diagnosis, will become irritable and display increased muscle tone. If not present at birth, seizures and hydrocephalus may develop, as well as lack of physical and developmental growth and possible paralysis. Older children generally develop other complications to include: gastrointestinal problems, seizures, respiratory disease, and feeding issues which result in placement of feeding tubes... all of which are manageable with an optimistic care plan. 

Testing/Diagnosis:
As previously noted, diagnosis may be delayed for many months in infants that display normal early behavior. Prenatal diagnosis is also possible using fetal ultrasound, though complete clinical evaluation to include: physical findings, detailed patient history, advanced imaging techniques (MRI, CT scan, or angiogram), and transillumination (the shining of a bright light through the skull) after birth are the most accurate diagnostic techniques. In prenatal diagnosis, misdiagnosis of differential diagnoses including bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus, and alobar holoprosencephaly (another neurodevelopmental anomaly). Though hydranencephaly is typically a congenital disorder, it can occur as a postnatal diagnosis in the aftermath of meningitis, intracerebral infarction, and ischemia (stroke), or other traumatic brain injury. 

Treatments: 
Treatment is symptomatic, there is no cure and the condition is ultimately terminal. However, the textbook prognosis which deems the condition "incompatible with life" and describing children with a diagnosis of hydranencephaly as in a "vegetative state" has been proven to be less than accurate. The oldest known individual with hydranencephaly is 32 years old; not without complications or limitations, but certainly aware of and interactive in their surroundings.

Resources:  
Global Hydranencephaly Foundation
Families are offered support, information, guidance, and resources. Through our efforts in education and awareness campaigns, the medical community will become enlightened to the possibilities that exist for these children and the world will learn to accept this condition as simply an obstacle in the lives of these little miracles.
www.hydranencephalyfoundation.org
www.hydranencephalyfoundation.info
www.facebook.com/globalHYDRANENCEPHALYfoundation

Global Hydranencephaly Foundation Family-to-Family Support Network (for all families)
 www.facebook.com/hydran.families

Angel families
www.facebook.com/HydranAngels

Journey of the Bees 
Global Hydranencephaly Foundation's Blog
http://braydenalexanderfoundation.blogspot.com

Brayden's Story :

My own son Brayden Alexander, the namesake of our parent foundation and inspiration that led me to establish Global Hydranencephaly Foundation, was diagnosed at birth in June 2008 with hydranencephaly. We were given the typical grim prognosis and stripped of every ounce of hope for our 'lil man. Fortunately I connected with other families and chose to believe in more than what the medical professionals presented as factual after finding so much hope and inspiration in these other children. After being presented with ample opportunity, and blessed with an optimistic outlook on life in general which fueled a passionate determination, I incorporated the foundation in June 2011 as a nonprofit organization. Brayden does have a long-list of obstacles he has and has yet to overcome, but is certainly not living in a vegetative state nor is he lacking on love of life skills. You can read his entire life chronicled at his CaringBridge page (http://www.caringbridge.org/visit/braydenharper). He has therapies and spends much of his "free" time visiting his friends in the medical profession, his doctors, but he also attends preschool 5-days a week where he is learning to communicate via switch and loves interacting with his peers. He and his friends, our little "bee" friends as they've been titled, across the globe have the potential to change the lives of thousands of families facing a diagnosis of hydranencephaly for their own little ones; many already involved with the cause, while many more we have yet to encounter. My hope is to expand this nonprofit endeavor, eventually providing grants for assistance with therapeutic services, equipment, medical costs, and other financial responsibilities of caring for these children. Information for adoption and designated care to insure families are not overwhelmed by the amount of involvement required in caring for these children is also of top priority. Awareness campaigns and merchandise to create recognition of the cause and what this condition is also available, with an ever-growing supply of items to choose from. The foundation is guided by individual family needs as it grows. The ultimate goal is not to cure, simply to insure these little lives are allowed to shine... all inspired by a blue-spectacled little man with a gigantic smile!

Contributed by MOM Alicia Harper

Retinoblastoma

Spina Bifida & Hydrocephalus

Spina Bifida is a birth defect that affects the lower back and, sometimes, the spinal cord. It is one of the most common birth defects in the United States, affecting about 1,500 babies each year (1).

Spina bifida is the most common of a group of birth defects called neural tube defects (NTDs). The neural tube is the embryonic structure that develops into the brain and spinal cord. The neural tube normally folds inward and closes by the 28th day after conception. When it fails to close completely, defects of the spinal cord and vertebrae (small bones of the spine) can result.

How does spina bifida affect a child?

There are three forms of spina bifida:

1.Occulta: In this mildest form, there are usually no symptoms. Affected individuals have a small defect or gap in one or more of the vertebrae of the spine. A few have a dimple, hairy patch, dark spot or swelling over the affected area. The spinal cord and nerves usually are normal, and most affected individuals need no treatment.

2.Meningocele: In this rarest form, a cyst or fluid-filled sac pokes through the open part of the spine. The sac contains the membranes that protect the spinal cord, but not the spinal nerves. The cyst is removed by surgery, usually allowing for normal development.

3.Myelomeningocele: In this most severe form, the cyst holds both the membranes and nerve roots of the spinal cord and, often, the cord itself. Or there may be a fully exposed section of the spinal cord and nerves without a cyst. Affected babies are at high risk of infection until the back is closed surgically, although antibiotic treatment may offer temporary protection. In spite of surgery, affected babies have some degree of leg paralysis and bladder- and bowel-control problems. In general, the higher the cyst on the back, the more severe the paralysis.

What causes Spina Bifida?

The causes of spina bifida are not completely understood. Scientists believe that both genetic and environmental factors act together to cause this and other NTDs. However, 95 percent of babies with spina bifida and other NTDs are born to parents with no family history of these disorders (2).

Who is at risk of having a baby with Spina Bifida?

Anyone can have a baby with spina bifida. However, couples who have already had a baby with spina bifida or another NTD have an increased risk of having another affected baby. A couple with one child with spina bifida usually has about a 4 percent chance of having another affected baby, and a couple with two affected children has about a 10 percent chance of having another affected baby (2). Similarly, when one parent has spina bifida, there is about a 4 percent chance of passing the disorder on to the baby (2). Couples who have had an affected baby or have a family history of NTDs should consult a genetic counselor to discuss risks to their future children.

In most cases, spina bifida occurs by itself. However, sometimes spina bifida occurs as part of a syndrome with other birth defects. In these cases, recurrence risks in another pregnancy may vary widely.

Women with certain health conditions are at increased risk of having a baby with spina bifida. These conditions include (2,3):

•Obesity
•Poorly controlled diabetes
•Treatment with certain anti-seizure medications

Women with these conditions should consult their health care provider before pregnancy about steps they can take to reduce their risk of having a baby with spina bifida. For example, they can achieve a healthy weight before pregnancy, control their diabetes, change anti-seizure medications and take folic acid (see below).

Spina Bifida and other NTDs occur more commonly in some ethnic groups than others. For example, NTDs are more common in Hispanics and Caucasians, and less common among Ashkenazi Jews, most Asian ethnic groups and African-Americans (2).

How is Spina Bifida treated?

•Occulta: This condition usually requires no treatment. Most individuals don’t know they are affected, unless the defect is diagnosed during an X-ray for some other reason. Occasionally newborns are diagnosed with this form of spina bifida if they have a dimple or other marking on their back. In some cases, these babies may need to be evaluated for spinal cord abnormalities that could eventually result in complications, such as weakness or numbness in the legs and bladder problems. Occasionally surgery is recommended to prevent these problems.

•Meningocele: This defect is repaired surgically, and affected babies usually have no paralysis.

•Myelomeningocele: This form of spina bifida usually requires surgery within 24 to 48 hours after birth (2). Doctors surgically tuck the exposed nerves and spinal cord back inside the spinal canal and cover them with muscle and skin. Prompt surgery helps prevent additional nerve damage and infection. However, nerve damage that already has occurred cannot be reversed. Soon after surgery, a physical therapist teaches parents how to exercise their baby’s legs and feet to prepare for walking with leg braces and crutches. Many children with a defect in the lower spine can walk with or without these devices, although most children with a defect high in the spine require a wheelchair.

What medical problems occur with Spina Bifida?

Common medical problems include:

•Hydrocephalus: About 70 to 90 percent of children with myelomeningocele develop hydrocephalus, a build-up of fluid in and around the brain(4). Cerebrospinal fluid cushions and protects the brain and spinal cord. When the fluid is unable to circulate normally, it collects in and around the brain, causing the head to be enlarged. Without treatment, hydrocephalus can cause brain damage and mental retardation.

Doctors usually treat hydrocephalus by surgically inserting a tube called a shunt that drains the excess fluid. The shunt runs under the skin into the chest or abdomen, and the fluid passes harmlessly into the child’s body. A newer surgical procedure called endoscopic third ventriculostomy creates a new pathway for draining cerebrospinal fluid. This procedure may be recommended for some children older than 6 months, including some who experience shunt malfunctions(5).

•Chiari II Malformation: Nearly all children with myelomeningocele have an abnormal change in the position of the brain. The lower part of the brain is located farther down than normal and is partly displaced into the upper part of the spinal canal. This can block the flow of cerebrospinal fluid and contribute to hydrocephalus. In most cases, affected children have no other symptoms. But a small number develop serious problems, such as breathing and swallowing difficulties and upper body weakness. In these cases, doctors may recommend surgery to relieve pressure on the brain.

•Tethered Spinal Cord: Most children with myelomeningocele, and a small number with meningocele or spina bifida occulta, have a tethered spinal cord. This means that the spinal cord does not slide up and down with movement as it should, because it is held in place by surrounding tissue. Some children have no symptoms, but others develop leg weakness, worsening leg function, scoliosis (curvature of the spine), pain in the back or legs, and changes in bladder function. Doctors usually recommend surgery to release the spinal cord from surrounding tissue. After surgery, a child should return to his usual level of functioning.

•Urinary Tract Disorders: Because of nerve damage, individuals with myelomeningocele often have problems emptying the bladder completely. This can lead to urinary tract infections and kidney damage. A technique called intermittent catheterization, in which the parent or child inserts a plastic tube into the bladder several times a day, is often helpful. Children with spina bifida should have regular care by a urologist (a doctor who specializes in urinary tract problems) to help prevent urinary tract problems.

•Latex Allergy: According to the Spina Bifida Association (SBA), many children with myelomeningocele are allergic to latex (natural rubber), possibly due to repeated exposures during surgeries and medical procedures (4). Symptoms include watery eyes, wheezing, hives, rash and even life-threatening breathing problems. Doctors should consider using nonlatex gloves and equipment during procedures on individuals with spina bifida. Affected individuals and their families should avoid latex items often found in the home and community, such as most baby bottle nipples, pacifiers and balloons. A list of safe and unsafe items is available from the Spina Bifida Association.

•Learning Disabilities: At least 80 percent of children with myelomeningocele have normal intelligence (4). However, some have learning problems.

•Other conditions: Some individuals with myelomeningocele have additional physical and psychological problems, such as obesity, digestive tract disorders, depression and sexual issues.

With treatment, children with spina bifida usually can become active individuals. Most live normal or near-normal life spans (6).

Can Spina Bifida be prevented?

A B-vitamin called folic acid can help prevent spina bifida and other NTDs. Studies show that if all women in the United States took the recommended amount of folic acid before and during early pregnancy, up to 70 percent of NTDs could be prevented(1). It is important for a woman to have enough folic acid in her system before pregnancy and during the early weeks of pregnancy, before the neural tube closes.

The March of Dimes recommends that all women of childbearing age take a multivitamin with 400 micrograms of folic acid every day before pregnancy and during early pregnancy, as part of a healthy diet. However, a woman should not take more than 1,000 micrograms (or 1 milligram) without her provider’s advice.
A healthy diet includes foods that are fortified with folic acid and foods that contain folate, the natural form of folic acid that is found in foods. Many grain products in the United States are fortified with folic acid. This means that a synthetic (manufactured) form of folic acid is added to them. Enriched flour, rice, pasta, bread and cereals are examples of fortified grain products. (A woman can check the label to see if a product is enriched.) Folate-rich foods include leafy green vegetables, beans and orange juice.
Women who already have had a baby with spina bifida or another NTD, as well as women who have Spina Bifida, diabetes or seizure disorders, should consult their health care provider before another pregnancy about the amount of folic acid to take. Studies have shown that taking a ten-fold larger dose of folic acid daily (4 milligrams), beginning at least 1 month before pregnancy and in the first trimester of pregnancy, reduces the risk of having another affected pregnancy by about 70 percent (2,7).

Can Spina Bifida be detected prenatally?

Health care providers routinely offer pregnant women screening tests to help identify fetuses at increased risk of Spina Bifida. These screening tests include a blood test called the quad screen and an ultrasound. The blood test measures the levels of four substances in the mother’s blood to identify pregnancies at higher-than-average risk of Spina Bifida and other NTDs, as well as Down syndrome and certain related birth defects.

If the screening test suggests an increased risk of spina bifida, the health care provider may recommend additional tests that are accurate in detecting severe Spina Bifida. The tests are a detailed ultrasound of the fetal spine and amniocentesis. A detailed ultrasound can help determine the seriousness of Spina Bifida and whether certain complications are present. In amniocentesis, the doctor inserts a needle into the woman’s uterus to take a small sample of amniotic fluid. The fluid is sent to a lab to measure levels of alpha-fetoprotein (AFP) in the fluid. An abnormal amount of the protein in the fluid is associated with Spina Bifida.

What are the benefits of detecting Spina Bifida before birth?

When Spina Bifida is diagnosed early in pregnancy, women can consult with their health care provider to learn more about the disorder and to consider their options. For example, they can plan for delivery in a specially equipped medical center so that the baby can have any necessary surgery or treatment soon after birth.
Parents and doctors also can discuss whether a vaginal or cesarean delivery would be best for their baby. Fetuses with myelomeningocele are more likely than other babies to be in a breech (feet-first) position. A cesarean delivery is generally recommended for these babies (2). Some doctors may recommend a cesarean delivery for babies with myelomeningocle who are in a normal head-first position, especially if they have a large cyst (3,8). One study found that a planned cesarean delivery can reduce the severity of paralysis in babies with myelomeningocele; however, several studies found no reduction in paralysis in babies delivered by cesarean (2,8,9).

More than 400 babies have undergone experimental prenatal surgery to repair myelomeningocele before birth( 10). This approach is based on the idea that early repair (between the 19th and 25th weeks of pregnancy) may help prevent damage to exposed spinal nerve tissue in the womb and reduce paralysis and other complications. Preliminary results suggest that children who have prenatal surgery have improvements in the Chiari Malformation and may need a Hydrocephalus shunt less frequently, but their bladder and bowel function do not appear to be improved (2,3). One study found better-than-expected walking ability in toddlers, but other studies did not (3,11). This procedure poses surgery-related risks to mother and baby and puts the baby at high risk of premature delivery (before 37 completed weeks of pregnancy). Prematurity increases the risk of health problems during the newborn period and lasting disabilities. Doctors do not yet know whether the benefits of prenatal surgery outweigh these risks.

To find out whether prenatal or postnatal surgery is more effective, the National Institute of Child Health and Human Development (NICHD), a part of the National Institutes of Health (NIH), is conducting a study to compare the results of both types of surgery in 200 babies with myelomeningocele( 6). Half of the babies undergo surgery before birth, while the other half have surgery shortly after birth. The surgery is being carried out at three major medical centers: Children’s Hospital of Philadelphia, the University of California at San Francisco and Vanderbilt University Medical Center in Nashville. More about this research is available at the study Web site or (866)-ASK-MOMS (866-275-6667).

Is the March of Dimes conducting research on Spina Bifida?

Several March of Dimes grantees are searching for genes that may contribute to Spina Bifida and other NTDs to develop new ways to prevent these disorders. Others are seeking a better understanding of how folic acid prevents NTDs, to make this treatment even more effective.

The March of Dimes is a member of the National Council on Folic Acid, an alliance of organizations working to promote the benefits and consumption of folic acid.

Where can families find additional information on Spina Bifida?

More information is available from:

•Centers for Disease Control and Prevention (CDC)
•American Academy of Pediatrics (AAP)
•Spina Bifida Association (SBA)


Logan's story:

Logan was born on October 17th, 2008. He weighed 6 lbs, 5 ounces and was 18 inches long! Logan was born with Spina Bifida: Myelomeningocele, Congenital Hydrocephalus, Chiari II Malformation. He has Asthma, GERD/Reflux and Hydronephrosis of the left kidney. Logan's SB level is at an L5/S1 (Lumbar 5/Sacral 1)...

On the day that Logan was born, my water had broke and I went into labor two weeks before my scheduled csection date, which was on November 4th! We lived almost 3 hours from the hospital that Logan was born at. We drove the 3 hours there. By the time we arrived to the hospital, I had been in labor almost 16 hours and the contractions hurt so much due to back labor.

I remember my husband being able to come into the room after they had laid me down and got me all secured and about 20 minutes later, I vaguely remember hearing the words, "And, we have a baby boy!" I remember waiting in agony for what seemed like forever to hear his little cry. When I finally heard it, tears streamed down my face and I passed out! They brought my husband over to where they brought Logan and let him see Logan's open lesion and then they carefully wrapped his opening and sent him on up to the NICU...

As I was in my room, I later learned that Logan had aspirated meconium and had to receive an NCPAP due to not being able to breathe, once he arrived up to the NICU. Logan went into surgery the next day to have his lesion closed up and after a day or two, I was finally allowed to go up to the NICU to see my precious, momma's boy!! The moment I saw him, lying there on his stomach- unable to move broke my heart but at the same time, I cried tears of joy. He was here and he was alive... (Not many people know this but before Logan was born, we almost lost him due to the Hydrocephalus growing too rapidly in his brain towards the end of my pregnancy.)

Logan spent the next 24 days in the NICU. He had his shunt placed in at one week old and was on & off oxygen.

Logan was released from the hospital on November 9th!! He came home in tow with oxygen and an apnea monitor. We would spend the next 3 months with many sleepness nights for fear that the apnea monitor wouldn't alert us if something went wrong! Logan would quit breathing while he was asleep, so there were nights where I was terrified to even sleep at all... In January 2009, Logan was officially weaned off oxygen! 

Logan has had a total of 8 surgeries so far since birth... When he was about 5 months old, I had noticed that he was still breathing really rapidly. It just wasn't normal. So, I trusted my instinct and took him to our family doctor. We were referred to a Pulmonologist. It was then, that it was discovered that Logan had a paralyzed Diaphragm on his right side and would need surgery to have it fixed.

Later that year, Logan was hospitalized with Pneumonia for the first time about a month before his 1st birthday... And, then in February of 2010, he was hospitalized again for Pneumonia and it was then, that his Asthma was discovered.

Logan is now 3 years old and is a complete joy & light in our life!! He is sitting up, he is pushing himself up onto his hand and knees, commando crawls all over the place, rolls everywhere & is now working on his latest milestone: pushing himself up to a sitting position!! If I had known and was able to envision what life would be like as his mother, now almost 3 years later- I would not have been so scared or worried about what he would/would not do or if he'd even thrive or questioned the thought of a wheelchair, braces, catheters, meds or his needed therapies.

Logan is happy & healthy and lights up any room with his silly, little grin!! He doesn't talk, stand or even walk yet but none of that matters or is even an important factor. If I could do it all over again, I would not change a thing!