The Newsletter of
SWAN USA
Our Swan is disjoined like many families of children who have a
Syndrome Without A Name
Help us make the connection
January 2007 Issue #5

SWAN USA Update 

Well we have made some progress with SWAN USA in the past few months. I filed for corporation status, that is just one step in be coming non profit. We still have detailed work to do and decisions to make before all the wheels start turning.

We are working on a logo; this will allow us to make brochures that will have a sticking image. We will then be able to reach the medical community and in turn reach more families.

I have been working with a few students from the University of Michigan. They are creating a database for SWAN usa for keeping track of our families and the children’s symptoms. There will still be great deal of work for it to become a useful tool.

You will shortly see some of our hard work reach you and other families in our undiagnosed community.

I’m wishing all of you a healthy and happy new year.
 
          Your Friend,
                         Amy Clugston

Zachary

By Ashley Page

 Zackary is 6 years old and has an undiagnosed
dysmorphic syndrome, ADHD, speech delay, and possible PDD (still has to be evaluated for), and he is sensory defensive. He was 3 years old when we were sent to Riley Hospital Genetics., because he was only saying about 10 words and also because his head was smaller than normal (microcephaly).   He sees a Geneticist, a Developmental Pediatrician, Neurologist, and a dentist there. We have also been able to go to the NIH in Bethesda, Maryland in Oct. '06. Even though they were not able to find a diagnosis, it was a wonderful experience that we will always remember.  When he was 4 years old, he had to have dental surgery to remove his top front 4 teeth because he has small jaw (micrographic), and is protruding tongue had pushed his teeth up into his gums. The syndromes he has been tested for are Down Syndrome, DiGeorge Syndrome, Angelman Syndrome, Fragile X Syndrome, Sotos Syndrome, and 5p deletion (Cri du Chat Syndrome).  He has also had a chromosomal analysis, his feta protein checked, urine genetic screen, a MRI, a sleep study at home, EEG, a 24 hr video EEG, EKG, a bone age scan. He
also has to have an abdominal ultrasound every year
(at first, it was every 6 months) to make sure he doesn't develop a tumor.  He also has to have his hearing checked every 6 months, but now it went to
once a year.  He has this one frequency in his left
ear that he can't hear. They say its sensorineural
hearing loss, but there has been no change in the
past year and a half.  He was in a Special Education
Developmental Preschool when he was 4 where he learned sign language.  He is now in Kindergarten.  He gets speech and occupational therapy in school. He also gets Speech and Occupational therapy outside of school too.  It has helped him so much. He can now talk in 2-5 word sentences. He can’t have conversations yet, but he tries so hard at everything he does.

(Continued on page 2)



(Continued from page 1)

We are so proud of our son. He has come a long way in the past 3 years, and even though he has a lot going on with him right now. He does not let anything get in the way. He is a very strong hearted little boy. We thank God everyday for him and our daughter. They are our world. We love them so much. Zackary learns so much from his sister Kiersten, as she learns a lot from him. For everything that our family has been through in the past few years, it has made us that much stronger. There is hope. You just have to believe it, we do. 

Zackary's Characteristics: microcephaly; height
and weight greater than 95th percentile; ADHD, speech delay, sensory defensive; possible PDD; language delay, articulation problem; longer face; ridging of the metopic sutures; midface hypoplasia; pits in earlobes (almost creases); thin upper lip;
micrognathia; protruding tongue; small and brittle
teeth; upper jaw underdeveloped, flat feet; birthmark
on forehead; started getting teeth at 3 months;
behavior problems; episodes, "violent, hyper, and
calm"(not sure if they are seizures); poor eye
contact; sweats a lot (diaphoresis); impulsive; gets
sick easily; not potty trained(almost); joints are
flexible; short philtrum; epicanthol folds; slightly
increased tone at ankles;  used to: have poor balance,
coordination, was clumsy, had weak joints, walked on
toes( sill does sometimes), would run instead of
walk,* does not hardly anymore because of physical
therapy. (not in PT anymore).

 forzackary@yahoo.com

http://www.caringbridge.org/visit/zackarypage


Text Box: Books

Raising Blaze

By Debra Ginsberg

     This book was suggested by Bev on our e-mail group, Thank You Bev. This book has 17 good and great reviews on Amazon.

Book Description

When you have a child that doesn't fit in, what do you do? Debra Ginsberg knew that her son, Blaze, was unique from the moment he was born in 1987. What she didn't know was that Blaze's differences would be regarded by

the outside world not as gifts, but as impediments to social and academic success. Blaze never crawled. He just got up and walked when he turned one. He called his mother 'Zsa Zsa' until he was three. By kindergarten, he loved the music of Miles Davis and Ella Fitzgerald. He fears butterflies and is fascinated by garbage trucks. With the same honesty that made Waiting a success, Raising Blaze: Bringing Up an Extraordinary Son in an Ordinary World chronicles Debra's experience in raising a child who has defied definition by the host of professionals who have sought to label his differences. Ginsberg introduces us to a remarkable child and her own unusual childhood. She writes about a family which shows us the redemptive power of faith, humor and love.

Susan Laughs

By Jeanne Willis, Tony Ross

     This book has a few great reviews on Amazon. The book is for early readers, ages 4-8. A review states that young children may need an adult to explain the real message.

 Book Description

Susan laughs, she sings. she rides, she swings. She gets angry, she gets sad, she is good, she is bad...

Told in rhyme, this story follows Susan through a series of familiar activities. She swims with her father, works hard in school, plays with her friends -- and even rides a horse. Lively, thoughtfully drawn illustrations reveal a portrait of a busy, happy little girl with whom younger readers will identify. Not until the end of the story is it revealed that Susan uses a wheelchair.

Told with insight, and without sentimentality, here is an inspiring look at one spunky little girl whose physical disability is never seen as a handicap.


2

The Challenge of Detecting GERD in Children with “Unique” Conditions

By Lesley Bennett

          When a child is vomiting, experiencing pain, or having trouble breathing, a parent’s natural reaction is to try and find some way to help.  The dilemma for parents, and even physicians, caring for a child with an undiagnosed disorder (or “unique” medical condition) is figuring out when a child’s symptoms are caused by the child’s underlying disorder, due to a common childhood ailment, or signs of a new or additional (secondary) disease.   This challenge is particularly difficult when a child with a “unique” medical condition develops gastrointestinal (GI) problems.  Abdominal pain, vomiting, irritability, refusing to eat, difficulty swallowing, or coughing can all be signs of common childhood GI problems, or symptoms of pediatric conditions such as neurological disorders, allergies, mitochondrial dysfunction, metabolic disease, seizure disorders, congenital malformations, or chronic respiratory disease. Yet, these symptoms may also be major signs of a very serious GI disease that is often a secondary condition in children with “unique” or medically complex conditions called Gastro-Esophageal Reflux Disease (GERD). The North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) estimates that 10% of all children develop GERD.  According to NASPGHAN, the percentage of children with “unique” or medically complex conditions who develop GERD as a secondary condition is probably higher since these children have many of the factors that make them more likely to develop GERD such as: delayed gastric emptying, severe constipation, premature birth, malformations in the GI tract, side effects from medications, hypotonia, developmental delays, feeding problems, neurological conditions, asthma, or impaired muscle function.  Unfortunately GERD is often overlooked in children with “unique” medical conditions, and this puts them at risk for developing many of the severe or life threatening complications of GERD such as anemia, GI bleeding, apnea, recurrent pneumonia, or malnutrition (“failure to thrive”).

         Although signs of GERD are often present in infants with “unique” medical conditions, these early symptoms can be very subtle and even look like typical baby or toddler problems.  For instance, Gastro-Esophageal Reflux (GER), or acid reflux as it is often called, is a common problem in infants and young children. It is a condition where stomach contents flow back (reflux) up the esophagus into the throat and mouth causing an infant to spit up (vomit) or regurgitate. GER is often caused by a weakness or malfunction in the muscle at the lower end of the esophagus called the lower esophageal sphincter (LES). Since the esophagus does not have a special lining like the stomach to protect it from the harsh actions of the

  body’s digestive acids, the LES acts as a barrier or valve that separates the stomach and esophagus.  The LES opens to let food pass from the mouth down the flexible, muscular esophagus into the stomach (or occasionally allow gas, burps, or sometimes vomit to pass back up the esophagus), and then closes tightly protecting the esophagus by keeping the food and acids in the stomach for digestion.  When children are very young, their muscles have not fully developed and often the LES is weak or relaxes allowing the contents of a child’s stomach to seep back up (reflux) into the esophagus, especially when the child lies down to sleep.  Most young children outgrow GER by the time they are 12 to 18 months old and their muscles, including the LES, become stronger.  However, in some children, (especially children with neurological or muscular conditions) the LES may remain weak which can allow stomach acid to constantly flow into esophagus and this constant exposure of the esophagus to stomach acid creates a major problem. Over time the acid can burn or damage the lining of the esophagus, and this damage is called GERD. Since many children with “unique” medical conditions have risk factors that can cause the LES to malfunction, or the GI tract to stop functioning properly, parents and pediatricians need to be aware of the complications and symptoms of GERD.

          Esophagitis is an inflammation of the esophagus that can often be the first sign of GERD in children.  Stomach acid constantly refluxing up the esophagus often irritates the lining of the esophagus causing some pain, swelling, and redness (Esophagitis).  Some children with Esophagitis develop a chronic cough, hoarseness, chest pain, vomiting, or difficulty swallowing, while other children may have no symptoms at all.  Since Esophagitis can also be caused by other conditions such as infections or medication reactions, a pediatrician or parent can easily miss this condition as an early sign of GERD.  If GERD goes unnoticed and untreated, stomach acid constantly flowing into the esophagus, and even into the throat, can cause more serious damage.  A child may start to aspirate or inhale some of the stomach contents into the lungs causing severe chronic respiratory problems such as asthma, apnea (stop breathing), bronchitis, or recurrent pneumonia.  Over a period of months or years stomach acid can also slowly erode or eat away at the lining of the esophagus causing a condition called Erosive Esophagitis.  Erosive Esophagitis is a serious complication of GERD that is very painful and can be life threatening for medically fragile children. The erosive action of stomach acid can cause scarring, strictures, ulcers, sores, or even change the make up and function of the esophagus.  Often the ulcers, or sores, caused by erosions in the lining of esophagus can bleed when a child tries to eat, and this is a major cause of anemia or GI bleeding.  Scarring, or scar tissue, from GERD can build


3


 up in the esophagus causing strictures which gradually make the esophagus narrower.  Since this scar tissue is very rigid or stiff, the esophagus loses its flexibility and a child with strictures may have difficulty swallowing (dysphagia). Often food can become stuck (impacted) in a child’s esophagus and children with severe esophageal scarring or strictures often refuse to eat (even when hungry) which can lead to poor weight gain, or a diagnosis of “failure to thrive.”   In some pediatric patients the damage of GERD is so severe that the cells lining at the lower end of the esophagus can change into cells that resemble the cells lining the stomach.  This condition is called Barrett’s Esophagus, and many pediatric specialists feel that this condition may put medically fragile children at an increased risk of developing cancer.  Since the complications of GERD can be so devastating for medically complex children, the Children’s Digestive Health and Nutrition Foundation feels the key to managing GERD in these children (and preventing or limiting some of GERD’s severe complications) is early diagnosis and treatment.

          Yet it can be very difficult for parents or pediatricians to diagnose GERD early in medically complex infants or children.  Some of the common symptoms of GERD in infants include:  constantly spitting up large amounts of formula/food; frequent projectile (forceful) vomiting; irritability or fussiness; sleeplessness; refusal to eat; back arching or posturing, seizures, poor weight gain, and respiratory problems or apnea (stopping breathing).  Typical symptoms of GERD in children are: pain (especially in the stomach or chest), difficulty sleeping at night, being a picky eater or refusal to eat, weight loss, gagging or choking, vomiting (especially with blood or what appears to be brown coffee grounds), excessive salivation or drooling, difficulty swallowing, bloating, excessive burping or hiccups, seizures, severe constipation, or respiratory symptoms such as coughing, hoarseness, recurrent pneumonia, or asthma (especially at night). Major warning signs or Red Flags that many pediatric gastroenterologists recommend as symptoms that should make parents and pediatricians suspicious of GERD in children are:   Refusal to Eat or Difficulty Swallowing.  In infants the key signs are:  frequent Projectile Vomiting, Irritability, Poor Weight Gain, and Back Arching.  Unfortunately, even these Red Flags for GERD are symptoms of numerous pediatric conditions. Projectile vomiting, irritability, poor weight gain, and posturing (such as Back Arching) are considered major warning signs of GERD in infants, but these symptoms may not always be useful  for evaluating GERD in  young children (including some infants) with “unique” medical disorders.  Often children with metabolic disturbances, mitochondrial disorders, neurological involvement, hypotonia, and even food allergies forcefully vomit, are irritable, have difficulty gaining weight, and occasionally twist their bodies in odd postures as part of their underlying disorder—not GERD. Dysphasia (difficulty swallowing) can be a key symptom

  of GERD in children, but it can also be caused by weak head and neck muscles, abnormalities in a child’s mouth, cancer, or disorders such as Cerebral Palsy—not necessarily GERD. However, seizures and neurobehavioral posturing that parents and pediatricians often associate with neurological disorders can sometimes be a key sign that a child with a “unique” medical disorder actually has GERD and should be carefully evaluated by neurologists and GI specialists.  Sandifer Syndrome, for instance, is a condition that is associated with GERD and presents with seizure-like episodes, and neurobehavioral symptoms such as back arching or posturing with the head to one side.  Parents and pediatricians often assume that these neurobehavioral symptoms and seizures are part of child’s underlying neurological disorder, and these children are treated with anticonvulsants but often do not respond to this treatment.  Neurologists now realize that children with developmental delays or neurological disorders (and infants) may not be able to speak and cannot explain their pain or discomfort.  Instead these children may respond to the pain or discomfort of GERD with seizure-like episodes or exaggerated behaviors such as twisting their bodies in odd rigid positions or arching their backs in an attempt to get relief from the pain and burning sensation caused by GERD.

         Since it can be so difficult for parents and pediatricians to detect GERD in children with “unique” medical conditions, NASPGHAN and CDHNF recommend that all medically complex children who have key symptoms of GERD or factors that contribute to GERD should be evaluated by a Multi-Disciplinary Team that specializes in the diagnosis and treatment of GERD.  Most major pediatric medical centers now use a multi-disciplinary approach for evaluating GERD in medically complex children.  The team is usually headed by a pediatric gastroenterologist and will often include other physicians, nutritionists or dieticians, GI nurses, and feeding specialists (usually nurse practitioners and physical occupational, or speech therapists).  Depending upon a medically complex child’s symptoms and underlying condition the team may ask pediatric neurologists, allergists, pulmonologists, metabolic specialists, orthopedists, or surgeons for help with the evaluations.  Each member of the team plays an important role in evaluating a child’s symptoms and deciding if the symptoms are related to GERD or something else such as the child’s underlying disorder, an anatomical malformation, or even a disease or condition that might mimic GERD. 

You can read more about GERD at these websites:

 www.NASPGHAN.org
 www.CDHNF.org
 www.kidsacidreflux.org

4

Text Box: Resources

         This section is meant to offer you information on a variety of opportunities and resources. We are not endorsing or suggesting that these are best for you. Use your own judgment on any of the Resources.


First Hand

            First Hand reaches children and their families who would otherwise fall through the cracks of insurance coverage and state aid. The Foundation strives to provide assistance that creates independence, rather than dependence for its recipients.

http://www.cerner.com/firsthand


IEP Goals and Objectives Bank

            If you have ever spent time looking for good goals and objectives to help prepare for your child’s IEP this will be a great find. The link below will open a 177 page pdf document. This document was designed to allow users to locate specific goals. You will be able to find goals for kids of all different ages and abilities.

            Content areas include: English, Functional Academics, Independent Living, Mathematics, Mathematics Readiness, Motor, Recreation and Leisure, Self-management and Daily Living, Social Emotional, Speech and Language, Study Skills, and Vocational/Career Education.

http://www.bridges4kids.org/IEP/iep.goal.bank.pdf

Ask the Geneticist

            This is a good place to ask question or even look at question and answers from other people. Question will be in categories so it will be easier to find what you are looking for. You can find links to other great websites and resources here as well.

http://www.askthegen.org/


SWAN USA Logo

            We want to hear from you about our possible logos. What do you like about the logos to the right? What don’t you like about the logos? Give us your thoughts by e-mail or phone.

1

2

3

4

5

6

7

8

9

10

 


SWAN USA Contact Information

Amy Clugston
1745 Lorna Lane
Otsego, MI 49078
269 694 6061
amyclugston@undiagnosed-usa.org

 


 

5

 

Print from a pdf. Version