The Newsletter of
SWAN USA

Providing support, information, and connections
to families of children with undiagnosed medical conditions

 
December 2007 Issue #6

SWAN USA Update 

We have considered all of the opinions on a logo, thank you everyone for you input. It was a close race for the winning logo, and the winner is #10.

We are now tax exempt under 501(c)(3). This means donations anyone makes to us will be tax deductible. This is a huge step for us and gives us great opportunities for our future.

We have formed our board and have elected our officers. We are ready to get moving on some projects.

           Your Friend,

         Amy Clugston

 

Introducing Board Members 

Amy Clugston – President/Treasurer
 Lesley Bennett – Vice President/Secretary
Ashley Page – Treasurer/Secretary
Michelle Maleski
Heather Long
Andrea Uscinski
Mary Elizabeth Parker 

Look for further descriptions of each Board Member in future newsletters and the website.

If you would like to help SWAN USA, there are many ways for you to do so. Here are a few; opinions, submit something for newsletter, committees, board, state support person, uses of talents or strengths to further our mission.

Agonizing Journey:

The Undiagnosed Child

By Kristyn Crow

 

When a child is born with (or develops) physical problems, parents experience a sense of panic: What is wrong with our baby? The anomalies might be obvious or subtle. Sometimes it is only a parent's "gut feeling" indicating that something just isn't right. There are few things as frightening as having a baby or child with an unknown medical condition.

 

When Parents Become Medical Researchers

Many parents find their feet set upon this difficult, frustrating path. They become their child's own medical researcher, trying to find a diagnosis that matches the baffling symptoms. Along this mysterious journey, their child might receive numerous incorrect diagnoses, sending the family on an emotional rollercoaster of fear, sorrow, and hope, as one condition is disproven, and then another suggested. The journey to diagnosis can take years. And it can become very eye-opening for parents to discover just how much doctors and specialists don't know.

The Fears of My Past

I have great empathy for these parents. Some time after my son Kyle was diagnosed with autistic disorder at the age of two, frightening things began to happen. Due to some minor physical symptoms present in some of my other sons, it was suggested for a time that all my boys had some mysterious disorder.    (continued on pg 2)
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I was a young stay-at-home mother, with beautiful sons who were intelligent, laughed and played, and didn't seem sick. But the mere suggestion that there was a black cloud hanging over our family was enough to send me into a frenzy of medical research. I bought books, manuals, and searched the internet. I was terrified of what I might find. The terror ignited the research, and the research ignited the terror.

Recently, when my third son was diagnosed with juvenile diabetes (making a total of two of my children with that disease,) a social worker in the hospital made a bizarre suggestion that in her work she had observed a high number of autistic children with diabetes, and diabetic children with autistic siblings. She said, "I'm sure there must be a connection." Hearing this comment, the decade-old fears of my past began to boil up inside me once again. Silently I was asking myself, do my children have an undiagnosed genetic disorder? But time and experience has taught me to prevent these seeds of fear from growing wildly. After all, this was not even a doctor speaking. And so what if it were? My children were happy and thriving.

I have some suggestions for parents in this predicament. Although I certainly can't give the answers you desire, here is some advice I can impart:

1. Approach internet research with a suspicious, open-mind. You can find all kinds of peculiar genetic syndromes over the internet, and some with grim realities. Just because your child has several symptoms associated with a certain disorder, it does NOT necessarily mean you've found the answer. Numerous diseases and conditions have cross-over symptoms. Some disorders mimic other ones. And your child may have some symptoms which are not related to one another.

2. Don't let your life become consumed with the search. Not only will doing so bring tremendous emotional stress to you as parents, but it can disrupt your marriage and rob you of precious family time. You need to balance healthy parental concern for your child with your own emotional health. Your marriage and family, and even your special child, needs you
to be emotionally available. Schedule one-on-one leisure time with your spouse, where the medical concerns are not discussed. Devote personal time with your other children. Don't let this unravel your lives. If necessary, schedule certain times when you'll do your research. But have the strength to put it aside and turn back to the other aspects of your life.

3. Continue to take your child to follow-up medical appointments, and ask for referrals. Doctors who practice at University Medical Centers often have the greatest access to current studies, information, and research. They are often the most open-minded and know about recent medical breakthroughs. Seek help for your child's specific symptoms, but keep putting him or her in the path of different medical specialists. Don't repeatedly take your child to the same baffled hometown physician.

4. Enjoy every day with your special child as a precious, miraculous gift. A child who has the opportunity to experience life, love, and family is blessed indeed. Your fear and heartbreak is understandable, but don't forget to seek out the smiles, the laughter, and the joy that life brings. Be positive, even if it takes work.

5. Trust that in most cases, a diagnosis will eventually surface. Time usually makes symptoms more apparent, and doctors will eventually put the pieces together. When this answer materializes, you might be surprised that it may not bring the satisfaction you were expecting. And although a diagnosis may uncover the mystery, your child is an individual who may have an atypical case, who might defy the odds, or who might even redefine the disorder. Do not consider your child to be doomed to a certain outcome. Get second opinions, and don't take too much stock in labels. And never, never lose hope.

Kristyn Crow is a blogger on www.families.com . She is the mother of seven children and is the author of 3 children’s books. This is Kristyn’s website www.kristyncrow.com .


 
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       What to expect—Diagnosing GERD

By Lesley Bennett

GERD evaluations will vary from medical center to medical center and specialist to specialist.  Depending on your child’s age, GERD symptoms, underlying medical condition, overall health, and the specialist; some medical centers will start immediately with GERD evaluation tests, while other centers or specialists will start with an extensive physical exam and thorough patient history or questionnaire.  Since pediatric GERD is complex and no single test can definitely identify a child with GERD, NASPGHAN recommends that a pediatric GERD evaluation include a thorough history, complete physical exam, upper gastrointestinal series (UGI), pH monitoring study, and eophagogastroduodenoscopy (EGD).

Patient History/Questionnaire

Your child’s pediatrician usually sends a copy of your child’s “official” medical history to the center or specialist prior to a GERD evaluation (sometimes it helps if you have a copy of these records with you).  Depending on the specialist or center, you and your child will either fill out a questionnaire or answer a series of questions during the appointment about your child’s diet and feeding habits or issues.  These questions will focus on your child’s symptoms and factors that can provoke acid reflux or GERD. Be prepared to answer questions about the foods your child likes to eat; how often your child eats or the size of your child’s meals; times when your child’s symptoms are worse; your child’s symptoms in relation to meals or  stress; does your child eat seated upright or in a supine position; exposure to tobacco smoke; how often your child has had respiratory problems such as  sinus infections or bronchitis; prescription and over-the-counter (OTC) medications your child is taking; and any drugs, foods, or environmental  factors that relieve or provoke your child’s symptoms.  Your answers will help GERD specialists determine if simple dietary or lifestyle changes may help relieve your child’s symptoms.  

Physical Exam

This is a complete physical examination of your child--paying special attention to your child’s abdomen, gastrointestinal (GI) tract, head, mouth, neck, lungs, and neurologic system. During this exam, the specialist is looking for any signs

or conditions that may contribute to your child’s symptoms such as muscle laxity due to a neurologic impairments, or malformations in the mouth, throat, or neck that may affect swallowing. In some centers, this part of a GERD workup will also include a feeding evaluation.  During this evaluation a (physical, occupational, or speech) therapist or specially trained nurse will observe the way your child eats a normal meal.  A feeding evaluation can detect mechanical problems such as improper chewing or eating positions (not seated in an upright position) that may contribute to your child’s GERD symptoms.

 

Upper Gastrointestinal (UGI) Series

The UGI (or Barium Swallow), is usually the first test that a gastroenterologist or GERD team will run.  The total time of this test will depend on your child’s underlying condition (and your center’s preparation time), but it usually takes about 1 to 2 hours.  Your child should not eat any solid foods 6 to 8 hours prior to the UGI.    At the start of the test, your child will be asked to drink about 1 to 2 cups of barium, which is a thick, chalky liquid. (Since many children do not like the taste of barium, ask if your center can add a flavoring to help your child drink it.)  The barium coats the inside of your child’s esophagus, stomach, and duodenum (first section of the small intestine) and a series of X-rays are taken to show the shape of these organs.  The UGI is an important test for detecting any anatomic abnormalities or changes in the upper GI tract such as a narrowing (stricture), growth, blockage (obstruction), or malrotation (unusual bend or twist), hiatal hernia, esophageal motility problems, some conditions that may mimic GERD, and as a Patient Safety factor.  As my daughter’s gastroenterologist says, “With the UGI, there are NO SUPRISES!”  The UGI makes a specialist aware of any unusual growth, blockage, or twist in your child’s GI tract before using a device that must go down the esophagus for testing. If a

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gastroenterologist performed a pH probe or endoscopy (invasive procedures) without doing a UGI, there is a risk that your child’s esophagus could be damaged when the specialist is surprised by an unexpected narrowing or blockage. 

pH probe or  pH monitoring study

Many centers consider the pH probe the “GOLD” standard for evaluating acid reflux since the study measures how often stomach acid refluxes into the esophagus and how long the acid stays in the esophagus.  Infants and young (or medically complex) children are usually hospitalized for pH monitoring but older children may go home for this 24-hour study.  In this test, a thin flexible tube or probe is inserted in your child’s nose and then guided down the throat into the lower part of the esophagus. There is a sensor on the end of the probe that detects acid in the esophagus and then sends this information to a monitor which records how often acid refluxes into your child’s esophagus. The probe is attached to wires that will be taped to your child’s face in order to keep the probe in place, and an X-ray may be taken to check placement.  Your child may be asked to wear the monitor (usually in a backpack or carrying case) and then you and your child will be asked to keep a diary of symptoms and activities during the test. In order for the GERD specialists to obtain as much information as possible about your child’s acid reflux, it is very important for your child to do as many “normal” activities as possible during the test such as eating favorite foods or normal (usual) sized meals, playing or exercising, and sleeping at usual times.  Results from the study will show the amount and how often acid refluxes into your child’s esophagus; demonstrate the association between your child’s symptoms and reflux; and the test can also be used to evaluate the effectiveness (how the medications are working) to control your child’s GERD symptoms.  However, pH monitoring has some disadvantages as a stand-alone (GOLD

standard) test for GERD. Many medications must be discontinued for at least 48-72 hours before pH monitoring for accurate results; and pH probe testing cannot detect tissue damage caused by acid reflux, complications of GERD, non-acid (bile) reflux, diseases associated with GERD (such as asthma), extraesophageal reflux (acid refluxing into the throat), diseases with symptoms similar to GERD (such as eosinophilic esophagitis), or intermittent acid reflux (reflux that varies from day to day).

Esophagogastroduodenoscopy (EGD)

 The ECD is also called a gastroscopy, upper endoscopy, or endoscopic exam with biopsies.  This test is the only GERD evaluation that allows a gastroenterologist to visually examine the inside of your child’s esophagus, stomach, and duodenum. EGD is one of the most important tests for patients with GERD since it helps a gastroenterologist determine the severity of the disease. Since EGD is done when a patient is under sedation, your child will be asleep during the procedure.  Depending on the center, anesthesia, and your child’s age or medical condition; this entire procedure (from prep time to going home) usually takes 1 to 3 hours.  After receiving anesthesia, a thin flexible tube with a small camera (endoscope) is inserted in your child’s mouth and then guided down the throat into the esophagus. The lining of your child’s esophagus, stomach, and duodenum are examined and small pieces of the lining (biopsies) are taken for laboratory (microscopic) studies to detect inflammation, infections, tissue damage, or other disorders that may mimic GERD.   The advantages of the EGD are that it allows a specialist to distinguish between reflux and non-reflux esophagitis, the biopsies can detect other medical conditions such as eosinophilic esophagitis, and a gastroenterologist can actually “SEE” the lining of your child’s esophagus and detect or correct any complications of GERD such as strictures or sores (erosions).   The disadvantages of this procedure are anesthesia, and poor correlation of visual (endoscopy) results with microscopic (laboratory) findings--biopsies can be positive even when the lining of the esophagus looks normal to the gastroenterologist.

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“Other” GERD Tests

Some larger (university) pediatric medical centers will include other tests to diagnose GERD, silent GERD (extraesophageal reflux) or other GI disorders that are associated with GERD or may mimic GERD.  These tests are expensive and usually require a dedicated staff for most accurate results.  Some of the current tests are:

·         24-hour double pH probe testing is very similar to pH monitoring, the only difference is that the pH probe has 2 sensors—one for measuring the amount and frequency of acid refluxing into the lower end of the esophagus and a second sensor to measure stomach acid refluxing up into the throat or pharynx (extraesophageal reflux). Double pH probe testing is very useful for identifying children with respiratory problems (bronchial) or hoarseness and “lump-in-the-throat” symptoms associated with extraesophageal reflux.  The problem with this test is that it may be difficult to correctly position the second (pharynx) sensor in children and this can affect test accuracy.

·         Milk scintillation, Technetium scintigraphy, or gastric emptying study is used to evaluate or document a delay in food leaving the stomach and moving along the GI tract--a condition called gastric emptying or gastroparesis (often associated with GERD in children). For this test your child will be asked to drink milk mixed with technetium 99m (weak, radioactive isotope), and a series of pictures will be taken of your child’s stomach with a special imaging camera.  The camera measures the amount of time it takes for food to pass from your child’s stomach to the small intestines.  Depending on your child’s age and medical condition, the test usually takes about 4 hours. Milk scintillation can be very useful for detecting delays in gastric emptying, food aspiration, and non-acid reflux; but very few centers perform this test since it uses radioisotopes and requires a dedicated staff.

 

 

·         Modified Bernstein Test is useful because it shows that acid can cause your child’s symptoms.  In this test, a tube is guided to the lower end of your child’s esophagus and then acid (or saline) is dripped on the esophagus.  If your child has symptoms when exposed to acid, the test is positive.  The Bernstein test is useful for diagnosing GERD in patients who have respiratory symptoms associated with acid reflux.

·         Esophageal Manometry measures pressure in the lower esophageal sphincter (LES) and detects abnormal esophageal muscle contractions. In this test, a small flexible tube is inserted into your child’s nose and guided down to the lower end of the esophagus. When the tube is in place, the pressure of your child’s resting esophageal muscles is measured.  Your child is asked to swallow water a few times and the pressure of your child’s contracting esophageal muscles is measured. Esophageal manometry testing takes about 45 minutes and is very useful for evaluating the strength and function of the muscles in your child’s esophagus, detecting esophageal motility or muscle coordination problems (spasms), and for identifying GERD, swallowing abnormalities or medical conditions such as achalasia.

Esophageal impedance testing is a new test that provides information about the movement of chewed food (food bolus) down the esophagus.   The test can be used alone or in combination with pH monitoring or manometry to evaluate esophageal function.  For this test, a thin probe is inserted in your child’s nose and guided into the lower end of the esophagus.  Your child is then asked to eat a small portion of bread, or other soft food, and the amount of resistance (impedance) to the food moving down your child’s esophagus into the stomach is measured.  Since impedance testing measures gas and all liquids that reflux into your child’s esophagus (not just stomach acid), it is a very useful test for evaluating patients with non-acidic or weakly acidic reflux that can not be detected by pH monitoring. Impedance combined with pH probe is also useful for evaluating patients with medication-resistant reflux.
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Donations to SWAN USA 

          Now that SWAN USA is tax exempted under 501(c)(3). We can now received donation that can be tax deductible. You can donate to us by sending donations to 1745 Lorna Lane, Otsego, MI 49078 or on our website using google checkout. www.undiagnosed-usa.org

          As a non profit organization we rely on the support from the community, to be able to further our mission. If you can offer some support it will very much be appreciated, by all the families we reach. 

 E-Mail Group

         SWAN USA hosts an e-mail group. This group isn’t only for families in the United States it is for all families and friends who are affected by children with undiagnosed conditions. The e-mail group is up to 230 members at this time. The families share a lot of information and support to each other. Everyone is very understanding and messages are rarely left unanswered.

          If you’re not familiar with e-mail groups, it is very simple to use. You need to sign up with a user name and password. You will then need to select join, then you will await approval. You can then e-mail questions, concerns, accomplishments, information or anything that you feel is appropriate for the group. Each message will be sent to everyone’s inbox unless you choose digest, which then many messages will come in one e-mail. Or you can choose no mail, which will allow you to view messages online rather than them being sent to your inbox.

 http://groups.yahoo.com/group/
undiagnosed_syndromes

 

 

Add Child to Newsletter or Website

           Have you been thinking about sharing your story or getting information out about your child’s symptoms? SWAN USA can help you do just that. You are welcome to tell us about your journey in the undiagnosed world, we can include it in our newsletter and/or website. You are also welcome to share a list of your child’s symptoms for families or medical professionals to view. It is a hope that this can either help families make connections or allow medical professionals to give some helpful suggestions.

          If you are interested in either of these opportunities e-mail Amy Clugston at amyclugston@undiagnosed-usa.org. I would need a picture of your child, a story or list of symptoms and characteristics. 

SWAN USA’s mission is to provide support, information, and connections to families of children with undiagnosed medical disorders.  By promoting programs to increase awareness, respect, understanding, and improve the quality of life of these children, SWAN USA hopes to empower families to create a safe environment and protect the welfare of those living with an undiagnosed disorder.

SWAN USA Contact Information

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

 
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Text Box: Books

Someone Special, Just like you 

Here are some comments made on this book. “It had beautiful photographs of children with all types of disabilities and the message in this book (unlike several others which I read) was 100% positive. What I mean by this is that while some other books on disabilities may deliver a message that says "don't be mean, or tease children with disabilities" , etc., this one was totally focused on all children as being lovable and worthwhile people -- very focused on only a positive message.” “It is very lovingly written and has such a positive attitude about children no matter what their differences are.”

 Married with Special-Needs Children

 This book received a 2007 iParenting Media Excellent Products Award. This book looks at the ways a marriage might be affected when the couple has a child with special needs. The author explains the differing coping mechanisms and expectations of a child, which the couple may have. Communication breakdowns and difficulty in conflict resolutions are some of the common pitfalls and stresses in a marriage.

It then presents a wide range of strategies for handling the common pitfalls that are often seen in families. This book also touches on the consideration of divorce.

Here is a comment made about this book; “We "special needs parents" have so much in common no matter what our diagnosis is. Lack of time and energy, high levels of frustration and unrelenting stress can take its toll on a marriage. This book explains the challenges and presents realistic strategies for overcoming them.” 

 

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.

 Disability is Natural

            I had the opportunity to listen to a presentation by Kathie Snow. If you want to learn about new ways of thinking when it comes to your children with disabilities, this is it. She speaks of things that seem so common sense, but we get involved in a disability world which sometimes blurs our vision. Kathy has published a book on this topic which is available on her website along with magnets, badges, bookmarks, note cards and stickers with unique comments.

www.disabilityisnatural.com  

 

Emma Patmore Foundation

Emma Patmore Foundation was started to help out a family who was experiencing the difficulties of dealing with their daughter Emma’s unknown medical condition. She suffered for 10 month from an undiagnosed disease which was believed to be a very rare genetic disease likely to be metabolic or mitochondrial in nature. After Emma’s death in December 2006, her mother, Tara wanted to continue the foundation to help other families who were going through the same type of situation. The foundation offers financial support for families who need it. When Tara had to experience being out of work to care for her daughter and all the medical bills, she realized that many families are likely going through the same thing.

www.luvemma.com

 

 

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