Monday, March 26, 2012

Reflex Anoxic Seizures

Overview: Reflex Anoxic Seizures (RAS) is the term used for a particular fit which is neither epileptic nor due to cyanotic breath-holding, but which rather results from a brief stoppage of the heart through excessive activity of the vagus nerve. 

Symptoms: Any unexpected stimulus, such as pain, shock, fright, causes the heart and breathing to stop, the eyes to roll up into the head, the complexion to become deathly white, often blue around the mouth and under the eyes, the jaw to clench and the body to stiffen; sometimes the arms and legs jerk. After what seems like hours, but is probably less than 30 seconds, the body relaxes, the heart starts beating (sometimes very slowly initially) and the sufferer is unconscious. One or two minutes later the person may regain consciousness but can sometimes be unconscious for over an hour. Upon recovery the person may be very emotional and then fall into a deep sleep for two to three hours and looks extremely pale with dark circles under the eyes.

Tests/Diagnosis: The symptoms of RAS share common factors with a number of conditions, with the result that RAS is often misdiagnosed as temper tantrums, cyanotic breath holding (prolonged expiratory apnoea) or epilepsy.   EEG, ECG, Seizure logs and event videos, initial diagnosis of epilepsy, and medical family history review and evaluation.

Treatments: No cure, only treatment would be a pace maker in extreme cases.  Patients experiencing RAS should be treated with seizure precautions to avoid injury.  Often no treatment is required, but some studies have suggested that the drug atropine is effective in reducing the frequency of the attacks.  RAS usually get less frequent and eventually stops during childhood. Occasionally the attacks persist into early adult life.

Lewis's Story:Even now I cannot get used to these horrific events and the other side effects and syptoms.  Every time it happens my little boy looks dead, and even though I am told breathing will resume due to a fail-safe mechanism in the brain I always panic each time willing him to breath.  What makes it worse is the rarity of the condition thus people just don't understand what Lewis and myself go through, except in on-line support groups.

Monday, March 19, 2012

Tactile Defensiveness

Overview: A largely unrecognized condition called Tactile Defensiveness, is a physical condition that renders one overly sensitive to certain touch sensations.
Symptoms: Children who have tactile defensiveness are sensitive to touch sensations and can be easily overwhelmed by, and fearful of, ordinary daily experiences and activities. Sensory defensiveness can prevent a child from play and interactions critical to learning and social interactions. Often, children with tactile defensiveness (hypersensitivity to touch/tactile input) will avoid touching, become fearful of, or bothered by the following:  
  • textured materials/items

  • "messy" things

  • vibrating toys, etc.

  • a hug

  • a kiss

  • certain clothing textures

  • rough or bumpy bed sheets

  • seams on socks

  • tags on shirts

  • light touch

  • hands or face being dirty

  • shoes and/or sandals

  • wind blowing on bare skin

  • bare feet touching grass or sand
    Child becomes emotionally overwhelmed by daily routines such as putting on clothing, socks and shoes. Many children with tactile defensiveness will only use their fingertips (if they even DO touch certain things) when playing with sand, glue, paint, play-doh, food, glitter etc. Consequently, their play is limited and so is their ability to engage in learning experiences. Children may become fearful, avoid activities, withdraw, or act out as their body responds with a "fight-or-flight" response. These children are deeply bothered by sudden light touch sensations and may prefer not to be hugged,kissed or touched by others. They will also be more aware of subtle details such as seams, tags and buttons on clothing as well as having very strong objections to certain fabrics and textures. It is a symptom of Sensory Processing Disorder. 
    Tests/Diagnosis: Children can be diagnosed with tactile defensiveness by therapists, early interventionists, developmental physicians, or neurologists through a variety of methods, namely responses to sensory stimuli and developmental evaluation. Tactile Defensiveness can be a single primary diagnosis or a "sub-diagnosis" of other conditions such as neurological disorders, neuromuscular conditions, brain malformations or anomolies, gobal developmental delays, Down Syndrome, CP, and autism to name a few. To date, the best two treatments available to help decrease tactile defensiveness are The Wilbarger Brushing Protocol and the use of deep pressure/weighted products (links to both are provided below). A child with tactile defensiveness needs to be in OT! They need to have the underlying sensory defensiveness addressed in order to achieve the proper developmental milestones and social interactions necessary. It will not go away on it's own. Coupled with OT, a good sensory diet and home program will help. You will find some ideas for activities/games/products to use and "how" to use them below:

    • Occupational therapy
    • Sand therapy
    • Hippo-therapy
    • The Wilbarger Protocol Brushing Method
    • Cranial Sacral Therapy
    • Naturopathy
    • Sensory Therapy
    My family and I struggled with having our daughter's behavior misunderstood. The books that were available on the topic, were quite complex and averaging at 300 pages."I'll Tell You Why ...I Can't Wear Those Clothes!" was written in order to raise awareness and compassion, in a short, simple and child friendly language. The inclusion of a drawing journal format invites the reader to share their individual feelings.

    Monday, March 12, 2012

    Spinal Muscular Atrophy (SMA)

    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. 
    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.  
    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.
    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!

    More info can be found at

    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

    Monday, March 5, 2012

    Tyrosine Hydroxylase Deficiency Dopa Responsive Dystonia

    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 .

    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.

    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.

    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.

    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.

    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.

    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

    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