October 1997

In This Month's Issue:
1. FROM THE EDITOR: About the Guardian Society
2. GUARDIAN UPDATES: New Members, Guardian Says Farewell and Thanks to Bette Culver
3. RESEARCH BY ... RainDance: Intestinal Pseudo-Obstruction
4. STOP THE MADNESS: Help the Children
5. LOST ANGEL: Gregory's Story
6. GUARDIAN CHILD OF THE MONTH: Kimberly Sizemore
7. A CHILD'S VIEW: Jennifer's Q k A followed by The Jennifer Sparks Story as told by Marita Sparks
8. LETTERS FROM THE MAILBOX: Letters from our Online k Offline Members
9. A LITTLE THIS, A LITTLE THAT: Short Stories, Anecdotes, also Where to Find Malt Extract for Less
10. NETWORKING PARENTS: Parents Share Their Stories, Ask for Help, and More
11. QUESTIONS FROM OUR PARENTS: Can You Help These Parents?
12. THE POWER OF THE INTERNET EXPLODES AGAIN: Guardian Found on Lycos Searchâ ä Engine!
13. QUESTIONS FROM OUR ONLINE PARENTS: A Question and an Update from Monique Whitney
14. A FATHER'S VIEW: Read About Tom and Matthew Beehler, Father and Son with Hirschsprung's Disease
15. A SPECIAL POEM by Kimberly Robinstein, written for her son Terran, on his First Birthday
16. HIRSCHSPRUNG'S DISEASE: PART THREE OF TEN: Epidemiology
17. HIRSCHSPRUNG'S DISEASE: PART THREE OF TEN: Embryology, Cause and Genetics
18. A NOTE FROM OUR VICE-PRESIDENT: Carolyn Rosado Introduces Herself and Thanks Our Founder
19. A NOTE FROM OUR FOUNDER k PRESIDENT OF THE GUARDIAN SOCIETY: Kim Robinstein
20. NOTICE: Please Do NOT Forget to Read Our Disclaimer

The Guardian Support Group was formed to help families and children who are suffering from chronic illnesses. To date we have 185 members as part of our support group.

In the short time we have been organized, we have been able to establish a mailing list, both through the U.S. Postal Service and through the Internet. We have created a web page that links parents to numerous sites that may be of help to them. We have formed local chapters so that families who are located near each other might not feel so alone in their struggles. We have had brochures printed and business cards printed that are being placed in physicians' offices. We have our monthly newsletter printed and sent out over the Internet and through the U.S. Postal Service. These services have already proven themselves invaluable to several families. We also have started our "Stop the Madness" campaign to make others aware of the problems our children face. We have also formed a voluntary board of directors that includes two pastors and a well-known surgeon.

The Guardian Support Group has been very successful. This success has not come without a price. The Guardian Support Group is asking for a small donation to help cover the operating expenses. The Guardian will not set an amount for the donation, nor will The Guardian Support Group refuse help or discontinue its mailings to those who choose not to make a donation. This support group is not about collecting fees for its services. Our primary concerns are to help those families who are suffering and to make others aware of the problems our children face.

Last month, Bette Culver resigned as secretary of Guardian for personal reasons. We at Guardian thank her for all her hard work the two months that she was with us and hope she and her family have a good life.

As a result of Miss Culver's resignation, Guardian has again grown. I'd like to introduce our new secretary Connie Thompson. Connie has stepped into the position with gusto and determination and we at Guardian hope to have a long lasting relationship with her and her wonderful daughter Alexandra. She and Alexandra were featured this month in the Bakersfield Californian on October 8, 1997. If you are interested, you can access the article on the web at http://www.bakersfield.com. Click on "Local" section, scroll down to Herb Benham, click on his name, click on "Breaking Out in Fears." That will bring up the article. This was a part of Spina Bifida month

Another new member of Guardian, Elizabeth Kohn steps in to help me with the online version of the Newsletter. Elizabeth has a son, Noah and a daughter, Julianna and a husband, Joe. They live in the Los Angeles, California area. Her official title is Co-Editor of the newsletter.

Note: This article was found at The National Institute of Diabetes and Digestive and Kidney Disease's Homepage.

Intestinal pseudo-obstruction (false blockage) is a condition that causes symptoms like those of a bowel obstruction (blockage). But when the intestines are examined, no obstruction is found. The symptoms of intestinal pseudo-obstruction are caused by a problem in how the muscles and nerves in the intestines work. Symptoms of pseudo-obstruction include cramps, stomach pain, nausea, vomiting, bloating, and fewer bowel movements than usual and loose stools. Over time, pseudo-obstruction can cause bacterial infections, malnutrition, and muscle problems in other parts of the body. Some people with intestinal pseudo-obstruction also have bladder problems. Some diseases that affect muscles and nerves such as lupus erythematosus, scleroderma, or Parkinson's disease can cause symptoms of pseudo-obstruction. When a disease causes the symptoms, the condition is called secondary intestinal pseudo-obstruction. Medications that affect muscles and nerves such as opiates and antidepressants might also cause secondary pseudo-obstruction. To diagnose the condition, the doctor will take a complete medical history, do a physical exam, and take x-rays. The main treatment is nutritional support (intravenous feeding) to prevent malnutrition, and antibiotics to treat bacterial infections. Medicine might also be given to help with intestinal muscle problems. In severe cases, surgery to remove part of the intestines might be necessary. The National Digestive Diseases Information Clearinghouse has an information packet on intestinal pseudo-obstruction. For a free copy, contact the clearinghouse at 2 Information Way, Bethesda, MD 20892-3570; e-mail ndic@aerie.com

Angela May Bennett (aka RainDance) is the official Web Researcher for the Guardian

RainDance (Angela May, 24, who has the tummy troubles, who got proudly through the tests on July 2, and still waiting for answers, and now has to have another test done)

http://www.geocities.com/Heartland/Meadows/7948 (My Tummy Trouble page got a whole new look!)

"If only for someone to hold my hand in my time of need or to sit and chat and let me cry that's my prayer tonight."

It's a campaign to help raise awareness for our children who suffer from rare disorders. The campaign was started in memory of Alex Cooper, July 5, 1996 - November 22, 1996. Alex died from undiagnosed Hirschsprung’s Disease and because of her death, our members decided to start wearing burgundy ribbons in memory of our children who suffer and sometimes die from being misdiagnosed or undiagnosed and/or rare diseases.

I found out about your organization from Jeannie Cooper. I read Alex's story in your newsletter, and have read your other newsletters. I would like to become a member and on the mailing list, if possible. Perhaps I could also someday write an article about my son, Gregory.

Gregory died on July 4, 1997. He was treated at Vanderbilt Children's Hospital. His is a complicated story (they all seem to be with this disease), but he did very well on breast milk for the first 3 1/2 mos. of his life. Then I began introducing formula so I could go back to work. That's when the trouble started. Greg's disease was not diagnosed with a barium enema because of the SEVERITY of the disease, not the absence of it (he had total colon Hirschsprung's). But a suction biopsy suggested that he probably did have it. He had surgery on July 2 and, after 6 biopsies, they found ganglion cells on his ileum. He was given and ileostomy and put on IV antibiotics. He did well for 24 hours. It's a long story, but he developed complications and died on July 4 in the morning. The autopsy confirmed enterocolitis and sepsis. We are also concerned about the possibility of having another child with this disease. Do you have anyone to discuss this with?

Kimberly is the daughter of Ken and Kathy Sizemore, our Regional Support Parents for South Carolina.

Our daughter Kimberly was born on December 17, 1996, one month before she was due. We were so excited to have a little girl with brown hair and blue eyes. She weighed 5 pounds 14 ounces and was 19 inches long. While we were in the hospital she had two extremely small bowel movements, one the size of two peas and the other just a smear. The doctor said not to worry and they sent us home. As the days went on she would eat less and sleep more. Once again the doctors said not to worry. She was also very jaundice at this time and was put on the "Wallaby II" lights at home. These lights were rapped around her stomach and back, so we were not able to notice her stomach becoming distended. On January 2, 1997, we took her to the doctor that morning and told the doctor that she was refusing to eat, hadn't had a bowel movement since she was 2 days old, and that her stomach was a blue/purple color. The doctor told us not to worry that some babies would rather sleep than eat, that we would need to try harder to wake her up. Also, the doctor said not to worry about the bowel movements or the color of the stomach. As that day went on Kimberly threw up bile stained vomit, stopped urinating, stopped responding to even the loudest noises, and stopped eating completely. This worried us severely. That night we called the doctor and told him what was going on and he said not to worry, just give her a glycerin suppository and she will be fine. We told the doctor that we wanted her in the hospital because we felt that she was severely dehydrated and he thought that we were crazy. He finally agreed to see us in the office and there he told us that she was fine and that he couldn't see any reason to put her in the hospital, but we demanded that he admit her. When she got to the hospital she was immediately put on an IV for severe dehydration. A nurse started examining her and thought that her stomach was terribly large, so she ordered a x-ray. This x-ray showed that she had pneumonia peritoneum. Kimberly was then rushed to the NICU where she was prepped for emergency surgery. At this point the doctors told us that they were not sure if she would survive the operation. We were devastated. Three hours later they brought our beautiful baby girl back from surgery; she now had an ileostomy. She stayed in the NICU only seven days (her progress amazed everyone including the surgeon). The surgeon suspected Hirschsprung's Disease but wasn't sure until two weeks later when the results of the biopsies come back positive. Dr. Michael W. Gauderer (pediatric surgeon) was shocked that it appeared that she had total colon aganglionosis, so he wanted to take more biopsies when she was a few months older to confirm this diagnosis. On March 18, 1997, she had an exploratory laparotomy with multiple biopsies and a stoma revision. Two weeks later we found out that she did indeed have total colonic aganglionosis, or Total Colon Hirschsprung's Disease. Currently we are doing extremely well with the ileostomy and are awaiting surgery next summer. She will be having the Duhamel pull-through operation.

I hope that this story isn't to long. It is so hard to tell every thing because then it would be like writing a book.

Guardian is excited to have you two as Regional Support Parents for South Carolina

Note: If you would like to become a Regional Support Parent, please contact us at Guardian and we will set you up.

Jennifer is 7 years old and was diagnosed with short bowel syndrome when she was 21 days old. She has always had a central line for TPN and has a button.

A: The button hurts sometimes when it gets red. The line is a little sore right after they put it in. My leg hurts for a few days. It hurts to pull the tegaderm off. I hold my blanket and Daddy's finger.

A: I don't like it when it shows through my clothes. I don't like being hooked up so much. I can't go places sometimes cause I am hooked up.

I used to wonder how Jennifer felt about everything that she has gone through. To her, it is just part of her. She once asked why she had problems, but for the most part, she just accepts it. If any of the parents of babies who have lines or buttons have some questions about what it is like for their child, just send your questions to Jennifer. She thinks it would be neat to be a "reporter" for the newsletter.

Thanks Jennifer for your honest answers and insight to our children's world. We look forward to more from you in the future.

Jennifer's (very condensed) medical history: She was born July 3, 1990 (34 weeks), and seemed fine. She started throwing up blood at 5 days old, local hospital could not determine cause. Holding my new baby while she cried to be fed and not being able to feed her was the hardest thing I had ever been through. I cried as much as she did. Our pediatrician sent us to Cook Children's Medical Center in Fort Worth, TX where she was diagnosed with malrotation of the intestine; first surgery at 1 week old. We were relieved as we thought to ourselves that we had found the cause and fixed it. However, by the end of the first week, she was still throwing up green bile and could not tolerate her feeds. So another surgery at 21 days, at which time a central line was placed and she was put on a NJ tube. That was when we were told that her diagnosis was short bowel syndrome. Her intestines were not absorbing any nutrients, her duodenum was dilated, and she had reflux.

We had to learn a lot fast. We came home from the hospital when Jennifer was 7 weeks old, with a central line, a NJ tube, reflux, diarrhea, and a little knowledge about what we were doing. Talk about scared! I was on the phone to the nurse and pharmacist at my supply company 5 to 6 times a day with questions about TPN, lines, formula, bags, pumps, everything! And in my pediatricians offices 4 or 5 times a week. And of course the GI visits. She was constantly pulling her NJ tube out. When we went to the doctor or for therapy, we would have to load Jennifer, her two pumps with the pole, and a large bag of supplies. When she was 8 months old, she had another abdominal surgery for adhesions. A fundo was done, and she got her g-button. It helped not having Jennifer throwing up every 10 minutes, but she always continued to retch. Most nights she would be up every hour for 10-15 minutes heaving and retching. And the battle over eating was begun. Things settled into a routine. She went 2 years with no major problems. She only had 1 line infection but had to have several central lines, a penny removed from her esophagus, and tubes in her ears (wow, a normal type surgery). We tried numerous times to wean her off the TPN by increasing g-tube feedings, but no success, as she would stool out, lose weight, and her electrolytes would go haywire. But other than the above-mentioned and her seeming constant retching (we called them the "pukas"), and battles over trying to get her to eat, she was a normal active baby and kid. She was on the pumps only 10hrs/day. My husband and I truly believed that a) she would eventually be able to absorb enough to get off TPN, or b) she could continue as she was indefinitely. Then when Jennifer was almost five, she developed a central line infection that progressed to endocarditis (heart infection). Her GI doctor told us that it was becoming imperative that we get Jennifer off TPN, and a bowel lengthening procedure, the Bianchi, might improve her absorption enough to make that possible. We tried one more time to go without the TPN and see if she could handle feedings and oral eating but by Oct '95 we knew that she would have to have the surgery. She had the surgery two days after Christmas '95, and we began the most terrifying 12 months of Jennifer's life. The surgeon was able to almost double the length of the intestine. We were cautiously optimistic of the results. Jennifer was in the hospital for four weeks for this surgery. After that she was home for 5 weeks, but then had to return to the hospital for two weeks due to the stomach flu and a line infection. She came home for Easter, but she was unable to tolerate feeds, so it was back to the hospital for one week, then home, and back to the hospital 3 days. She was then home one day before the April 18, 1996 disaster. Jennifer had to be Careflighted to the hospital, part of her bowel had lost blood supply (necrotizing enterocolitis) and had to be removed, a ten day ICU stay. We thought we had been through it all, but nothing compares to having a child in ICU. Jennifer was in the hospital for 3 months (till July 96), had four surgeries, and battled numerous infections. Four weeks after getting out, she was back in the hospital to remove gall bladder (she had developed gallstones). We were in and out of the hospital during Sept-Nov 96 with more infections and a blood fungus. All told, we spent 182 days of 1996 at Cook's hospital (our "home away from home".)

After her last infection, we removed her line, and came home the day before last Thanksgiving to try again with enteral and oral feeds. She maintained good electrolyte balances, but continued to lose weight and her stools eventually reached 16 a day. But she has stopped retching and is eating better. We went to Disney World in March (courtesy of Wish with Wings and Give Kids the World), and she was able to finish the school year. In an effort to increase her absorption, she was put on an experimental feeding regimen in June that had her on a high carbohydrate/ low fat formula, glutamine, and growth hormone shots. However, she had to have her c-line replaced this June and put back on TPN. She is on TPN w/lipids and enteral feeds 16 hrs a day. The 8 hours she is off, she goes to school. Well, sorry this is so long, but that is a short version of Jennifer's history. I also want to stress, that contrary to some of the experiences that we have been reading on the net, Jennifer's doctors have been wonderful. They explain what is going on with Jennifer, listen to us, and are genuinely concerned. She thinks the world of her "M & M" doctors: Michael Morris, her GI (blue); James Miller, her surgeon (red); and Donald Murphey, her infectious disease Dr. (green). We live 60 miles SW of Fort Worth, TX and all of her medical stays have been in Cook Children's Medical Center, where the nurses and staff are great. They do everything possible to make our stays as tolerable as possible, and are attentive, friendly and capable.

Through all of this Jennifer has grown into a wonderful, sweet little girl, who loves school, her teachers, reading, watching TV, and wrapping her parents around her little fingers. She is quite proud that she has gone through 22 surgeries. While waiting for her last line placement, she talked to a little girl who was having her first surgery, telling her "It really isn't that bad." She is a trooper and our little angel.

Our son Jonathan was born prematurely at 32 weeks 2/20/93. At 5 days of age he contracted NECTROTIZING ENTEROCOLITIS. A major surgery was done to remove the dead intestinal tissue (killed by bacteria) and an ostomy bag was put in. At one month a central line was put in to administer TPN and lipids because the nurses ran out of sites to place IV lines. A resectioning of the intestines was done at 2 months. Two days before he was scheduled to come home he began to throw up his formula. He was diagnosed with reflux and was given Phenobarbital and zantac (ranitidine). We have been very fortunate in that when he came home (at 3 months) he had only one major surgery (remove the gall bladder because he had gall bladder stones and a fundoplications for the reflux) and only 3 central line replacements. He had not been hospitalized for 2 years until Sept 2 1997, in which he began to vomit bile. The doctors said that this is due to the fact that his intestines have become distended. They no longer have the small diameter needed to propel the formula (VIVONEX) or baby food through his digestive system, therefore his stomach does not empty and everything bags back into the esophagus (oh yea our fund never worked just a waste of money and valuable time). Current medications are Actigall, cisapride (propulsid) and bethanecol. He also suggested we give erythromycin to help increase motility I will advance cautiously with this idea now that I read the guardian for the monthly of August 1997.

What's next? The doctors recommend a bowel lengthening procedure (Bianchi Procedure). In all other ways our son is perfectly normal (except for some speech delays due to the lack of eating by mouth). Do you know of any parents that have had this procedure or are considering the procedure? I have very little information regarding the procedure. Please feel free to give my name, address, phone number we don't not have an email address but are planning to set up a web site at the end of September.

Thanks for your hard work. We have been truly blessed by your efforts to create a medium for parents, doctors, etc. to share information about various types of illnesses related to motility disorders. May God bless you and your family.

I have a 9-month old son who has the Hirschsprung's Disease. I would like as much information as possible about the possibility of surgery and other possible cures. He has ileostomy when he was 11 days old. The doctors in Portugal said that there was no chance of making a intestine transplantation but I was told that in Paris, in a hospital called "Les Enfants Des Maladies" could make this kind of surgery. Is it possible that this surgery could be done in a 9-month baby? Has this disease a cure?

What cares should I take about nourishment, now he's being fed by a tube which leads directly to his stomach (I don't know the technical term), the milk is called Pregestimil, he has already tried 3232A but it didn't work, he has also tried Pepti-junior but it also didn't work. How do you feed your baby? Does your baby have a problem with sugar? Thank you for your reply, if I come with other questions, I'll send you another email. Please e-mail me as soon as possible.

Thank you for sending me the newsletter and other information. I gave copies to Timothy's doctors to give to their other patient's parents. I do not have my own e-mail address yet but a supervisor at work is letting me use his address for now. I also wanted you to know that Timothy was accepted into a public school program called Headstart and although we have still not made any progress in potty training, he is doing very well at school and enjoys it very much. I have been busy writing his story for the newsletter but probably won't have it done until after the first of October. Please post my home address on the web page for anyone who would like to correspond with me. It is Leesa McDaniel 100 W. Wasatch St. Apt 11, Midvale, UT 84047. My supervisor is Ryan Devey and his email address is rdevey@slcmail.westin.com.

Leesa McDonnell is our Regional Support Parent for Utah and has been a big help to us.

When we brought Jennifer home from the hospital with a central line and NJ tube, pumps became a routine part of our family's life, including our then six-year-old daughter, Tina. During the next few months, Jennifer had several more surgeries and lots of different tubes, g-tubes, j-tubes, ng-tubes, drainage tubes, etc. She also had recurrent ear infections. When she was 18 months old, the doctors decided that Jennifer needed tubes put in her ears. I was telling Tina that we would be going into the hospital to put tubes in Jennifer's ears. Tina looked at me, looked at Jennifer and asked, "What kind of pump will those tubes be hooked up to?"

An American radio broadcaster, Paul Harvey, once told a modern parable about a religious skeptic who worked as a farmer. One raw winter night the man heard an irregular thumping sound against the kitchen storm door. He went to a window and watched as tiny, shivering sparrows, attracted to the evident warmth inside, beat in vain against the glass.

Touched, the farmer bundled up and trudged through fresh snow to open the barn door for the struggling birds. He turned on the lights and tossed some hay in a corner. But the sparrows, which had scattered in all directions when he emerged from the house, hid in the darkness, afraid.

The man tried various tactics to get them into the barn. He laid down a trail of Saltine cracker crumbs to direct them. He tried circling behind the birds to drive them toward the barn. Nothing worked. The man, a huge, alien creature, had terrified them; the birds couldn't comprehend that he actually desired to help. The farmer withdrew to his house and watched the doomed sparrows through a window. As he stared, a thought hit him like lightning from a clear blue sky, if only I could become a bird, just for a moment, then I wouldn't frighten them so. I could show them the way to warmth and safety.

At the same moment, another thought dawned on him. He had grasped the reason Jesus was born.

Connie Thompson found malt soup extract at a local microbrewery for $7.86 for two pounds. This is a major saving over the local drug stores.

My son Andrew (18 months old) was born with Hirschsprung's (entire colon was removed). We have met another family in Bakersfield, CA who also has a child with Hirschsprung's. She referred us to you.

Andrew seems to have chronic diarrhea. Nothing comes through but brown water. Last week he was getting dehydrated. He was admitted to the hospital. Tests show no bacteria, virus, etc in his stool. Is this common? What have others found out? Electrolyte level was low. This level would come back up and then go down.

My son is 71/2 and has Hirschsprung's Disease. I have been trying to start a group in my area and have not had much luck! Please write back if you receive my memo.

Ramona has graciously volunteered to be our new Regional Support Parent for Florida. Welcome, Ramona!

] ˜ ™ ˜ ™ ] THE POWER OF THE INTERNET EXPLODES AGAIN ] ˜ ™ ˜ ™ ]

My name is Craig and I ran across your page looking for Hirschsprung's under the Lycos search engine. I would like to receive your newsletter because I have Hirschsprung's. I am a 26 year old male. I have had Hirschsprung's all my life and I am making my own web pages at this time that varies in different things. One of them is on my past medical history. If you would like you can post my e-mail on your page for anybody that has questions (not any medical advice that I can get in trouble for) about this disease. I have been willing to talk to people about this all my life and I want people to understand that its not that hard to live with and it doesn't make the person that has it any different as a human being, like I have been treated in the past. When I get my web page up I will be linking to your page. I feel this is very important that people understand more about this. I see you feel the same way. If you do link my e-mail on there this is it cejay@pcpros.net

I was wondering if there is anyone out there that knows of somebody with Hirschsprung's that had a pullthrough done without a colostomy. I am very anxious to talk with them about experiences, problems, etc. My daughter, Sami - 2 years old, had the Soave pullthrough without colostomy when she was 14 months and we are having problems. I'm curious if others experienced the same thing that is why I am specifically looking for those that have not had a colostomy.

I wanted to update y'all on Sami's biopsy results. Background info: She had a "mass" between her colon and backbone (or so the doctors thought). She had a CT done and it was determined to be blood. She was scheduled for a colostomy, which was cancelled for a number of reasons. We took her back for a biopsy on the "mass" and I finally got the results. The "mass" is not blood, but mucous-filled. Apparently, when they did the pullthrough and pulled the lining from the rectum, one or two cells stayed behind and filled with mucous. Another thing they discovered was the "mass" was not outside of her colon, but it is inside her colon, outside her rectum. Because of the pullthrough, she is double-layered down there and it is between the layers. He's hoping that since he poked holes in it for the biopsy, it will drain. We are going to wait awhile and see how Sami does. In 2 -3 months, we will take her back for another CT to see what the "mass" has done. If it is still there or has gotten bigger, he will have to surgically remove it. To do that, originally they were going to go from her backside and remove it and give her a colostomy. Well, since they discovered it was within her colon, if they have to remove it, they would go through the rectum, cut a hole in her rectum wall and get it out that way. That would not require a colostomy (so they say). I'm just real excited that she doesn't need a colostomy (right now anyway). I was all psyched up for the colostomy when she was supposed to have one, but since they cancelled it, I just don't want her to have one. She seems to be doing so much better. Her bottom has cleared up so, so, so much. It isn't even red any more, it doesn't bleed but there are still a few welts. She sits on her bottom now, where before, you couldn't get her to sit - she either laid on her stomach or back. She's gaining weight - oh yeah, I forgot to tell y'all - when we took her for the biopsy (one week after her cancelled surgery when she had lost 1.5 pounds, mind you) she gained one pound - in that one week. She's eating a lot more (calories as well), she doesn't strain like she used to when she had to go. She still has a dirty diaper every time I change her, which is every 1 - 1 1/2 hours, but it's not much. I hope I'm not having "false hope", but the doctors just want to wait and see, so that's what I'm gonna do. A few people have been asking for Sami's results, so this is what I understood the doctor to say. Has anybody ever heard anything like this? I don't know if this is common - I would appreciate any feedback.

Thank you for listening. I needed to tell someone and this has always been a good source. I apologize for it being lengthy, but I'm trying to make sense I hoped it worked.

] ˜ ™ ˜ ™ ] A FATHER'S VIEW OF HIRSCHSPRUNG’S DISEASE ] ˜ ™ ˜ ™ ]

Hi, my name is Tim Beehler and I'm a 25 year old male with HD. I am married to a wonderful woman by the name of Jen that is my better 3/4 (better half would be an understatement) and I have two terrific sons, Andrew will be three in November and Matthew who also has HD will be two in January. I am going to try and give you a father's view from a different perspective. Almost all of the cases I have heard about deal with a parent or a child that have HD, not both. So I am going to try my best to give you a quick rundown of my life (in a nutshell) with HD and the thoughts and fears I have having a child with HD. Be patient if I get long winded.

I was born in Toledo Hospital on January 3,1972, 6 pounds and never passed stool. I was released between day 6 and day 9 (not too sure which, as I was kind of small then) and still had not passed stool and would not eat. My mom told me all I would do was act very lazy, sleep a lot and I would throw up stool. The doctors told my mom "Mrs. Beehler, your son can not be throwing up stool." which is just what they told Jen the day after Matthew was born. My mom took me to the emergency room when I was 10 days old and they told her I was "failure to thrive" and I needed to go to surgery right away. I had a colostomy put on and needed it changed 15 to 20 times a day because I had very bad gas. Compared to now where I just have bad gas.

This went on for 10 months until I had my pullthrough. After that there were no more bags, but I was not able to stay regular. Between 1 year and 5 years I don't remember a lot except going to the doctor and knowing what the rubber glove meant and being able to describe what a fleet enema looks like with my eyes closed. I think that the main reason for most of my problems was procedures done at that time were just being tested and equipment was not modern enough. I have a scar about 12 inches long just below my waist line and when they did the pull threw they used staples to form and shape the intestines the way that they needed to be. My dad told me that it looked just like a large zipper. I have had all of my large intestines removed and I'm not sure about the rest.

Growing up through school years was by far the worst thing in my life so far. If the rest of you or your children have bad gas this is what caused me more trouble than HD itself did. First off, I'm not a very big guy. I don't know if this has to do with HD but I'm sure it played a part. Second, as a child your control of your body functions are not as great as you would like them so it is very easy to be in the middle of a room and squeak out even a little fart that could clear the room for 4 or 5 minutes easy. So as you can guess kids can be mean and boy were they. I began skipping school because I did not want to deal with it and as a result dropped out in the middle of the 9th grade. Now don't get me wrong, this was not all HD related and there is a lot of years I'm not writing about, but HD is what started the habits so I put it down. I am not a stupid person as a result of dropping out. I did go and get my GED for MYSELF and no one else. I am currently an executive for Target (discount retail store) and make a good living and have a wonderful family. So, although it sounds like I had a terrible childhood you can't judge a book by it cover and don't think from reading this that your kids are going to drop out of school and be nothing. I'm telling you my experiences so you know what you may be in for and can be proactive in positively impacting your child's life.

OK, enough about me now on to Matthew. Matthew was born on January 28, 1996, 6 pounds, 9 ounces and never passed his first stool. On the second day Jen noticed that they had not put down on the chart that he had any dirty diapers and asked if they forgot to put it down in the nursery. They told her that he had not gone yet and that that was normal not to worry. Yea right. He was not eating well at all and anything that he would get down would come right back up. This is where Jen told them that she thought that it was stool and that I had HD. Now at this time the nurse has a concerned look on her face, because she don't know what it is and tells us, "Mrs. Beehler, your son can not be throwing up stool." Well he was and when they finally did a rectal biopsy they found out it was HD. Imagine that! HD! What would give them that idea?

Any questions about Matthew e-mail my wife Jen at Pooh@glasscity.net and she can help you more. The first thing I did when we were waiting for results on the rectal biopsy was go down alone to the chapel in the hospital and cry. I blamed myself because I had it. And what did he do to deserve the hell and torture that was ahead of him. My biggest concern when I found out that Matthew had HD was that everything I went thought was in store for him. THAT'S JUST NOT SO. The abilities of the doctors are getting better everyday and with support groups like this one our kids could not have picked a better time to be born. I hope this helps someone understand something, I'm not too sure what but you can figure it out for yourself. Just remember the biggest part of our kids is their heart and no doctor can take that part of them away.

Guardian Society thanks Tim for this difficult article, and thanks him and his wife for being Parent Advisors, and Regional Support Parents for Ohio

They hand my child to me, a son a son, I look deep into his eyes and say I have a son today I have a son

I look at him count his toes, fingers, arms, legs, I devour his face he has a worried look, as he refuses to suckle at my breast, "it's ok," they say. I have a son, I have I son.

He sleeps through the day and all the night. "I have a son," I say to anyone who glances my way. "I have a son, I have a son."

Does my pride show as I say with pride, "I have a son"? But inside, I feel something is not right, my mind is reeling from the terror. I feel something is not right, something is not right. Why does my baby sleep all the time, why does he refuse to eat? "You have a son," they say, "you have a son". It will be ok.

They arrive in the middle of the night, angels of flight, to rescue my weary son, to help him they say. I no longer have a son, my arms ache as I cry my tears. "I want my son," I say, I want my son. "Where is your son?" they say, "where is your son?"

"You have a special son," they say, "he's special in a special way." Hirschsprung's Disease shatters my innocence and plunges me in to an adventure of a lifetime, no longer alone, no longer able to flee. "I have a special son," I say, "I have a special son."

This is how my life is to be now. I had a son last week, a special son - a very special son. They say, "special in a very special way, take him home and pray."

I had a son last year, a wonderful, special son. I am so glad he's here. I have a son. I have a son.

Dedicated to my special son on his special day Terran Xavier Zaceria Tymothy Edward Robinstein

Thanks to all our members for their contributions to this newsletter. Without you, this newsletter would not be possible.

In recent population-based studies, the incidence of congenital aganglionosis or Hirschsprung's Disease has been shown to range from approximately 1 per 5400 to 1 per 7200 live births. In large clinical series approximately 80% of patients are male and 20% are female. The male preponderance for the disease is slightly reduced when only patients having long-segment aganglionosis are considered. Several studies have failed to demonstrate an association between the incidence of aganglionosis and race. In approximately 8% of cases, a history of Hirschsprung's disease is present in other family members. A familial component is more likely in patients with long-segment aganglionosis when compared with those whose aganglionic segment is short. The risk of a subsequent sibling having Hirschsprung's disease is approximately 5%. In a parent who has Hirschsprung's disease, the risk of having an affected child is approximately 2% in those who have short segment disease but may be as high 30% if the aganglionic segment is long. Hirschsprung's disease has been demonstrated by segregation analysis to be a genetically heterogeneous condition with autosomal-dominant, autosomal-recessive, and polygenic subtypes. Moreover, there are a number of inherited syndromes in which the incidence of Hirschsprung's disease is increased, including the multiple endocrine neoplasia syndrome (MEN) type 2A, Wardenberg's syndrome, and Cartilage-hair hypoplasia. In familial forms of the disease, a greater likelihood exists that patients will have aganglionosis involving the entire colon. Associated congenital anomalies are relatively common in patients with Hirschsprung's disease. In one report of 179 cases, 39 patients with Hirschsprung's disease (22%) also had other associated anomalies. A listing of these anomalies is presented in Table 1. Down's syndrome is also a frequent finding in patients with Hirschsprung's disease, occurring in approximately 8% of patients. Cardiac defect are especially common in those who have Hirschsprung's disease and Down's syndrome, occurring in approximately 50% of such patients.

The congenital absence of ganglion cells in the distal alimentary tract is the pathologic sin quo non of Hirschsprung's disease. The anus is always involved, and a variable length of distal intestine may be involved as well. Both the myenteric (Acerbate) and the submucosal (Messier) plexuses are involved, and the absence of innervation results in reduced bowel motility. Although the exact cause of aganglionosis remains uncertain, three possible explanations have been postulated for the developmental defect: (1) either the recursor neuroblasts did not migrate into the affected portion of the bowel during embryonic development, (2) the neuroblasts were present at one time and then failed to develop into mature functioning ganglia, or (3) the cells developed normally and then underwent degradation through some undefined mechanism, perhaps because of microenvironmental factors or as a result of an ischemic insult. To study the pathophysiologic makeup of Hirschsprung's disease further, investigators have explored the embryonic development of the enteric nervous system. The embryology of the enteric nervous system has been studied most completely in the murine model. Recent advances in molecular probes and immunohistochemical techniques have allowed investigators to gain a much greater understanding of neural development. In particular, because undifferentiated neuroblasts are morphologically indistinguishable from the surrounding mesenchymal cells in the early period of enteric development, sensitive molecular markers have been used to follow enteric nerve cells through the various stages of migration. The neural and glial cells that form the ganglia of the alimentary tract originate from the bagal and sacral neural crest populations. Bagal enteric neural crest cells arise in the cranial portion of the neural tube and normally migrate throughout the gut in a cranial to caudal direction. The sacral neural crest cells arise from the caudal neural tube and probably migrate for a distance cranially from the distal end of the alimentary tract. It is thought that this process also occurs during human development. A dual gradient of enteric nerve cell maturation has been described in human embryos, where maturation in the esophagus and the rectum proceeded ahead of that of the ileum. The exact lineages of human enteric ganglia cells, however, have not been formally proven. There are two mutant strains of mice affected by congenital aganglionosis of the distal bowel that have been particularly useful in elucidating the embryology of Hirschsprung's disease. These are the homozygous lethal spotted and the piebald lethal strains, whose recessive genetic mutations initially arose in laboratory animals. These mice exhibit a clinical condition that is very similar to Hirschsprung's disease. Specifically, these mice have a variable length of distal aganglionic bowel with morphologically normal proximal bowel. The mice have dilated bowel proximal to a functional distal obstruction, a condition that is usually lethal. It is interesting that these animals also have areas of decreased skin pigmentation that result from an absence of cutaneous melanocytes, which also derive from the neural crest. Similar syndromes of bowel dysmotility related to an absence of ganglion cells in conjunction with abnormalities in skin pigmentation have been described in the rat and the horse (Fig. 1). These findings suggest that there may be a maturation or colonization defect in a particular population of cells derived from the neural crest that ultimately differentiate into melanocytes and gut neurons. With regard to the enteric ganglia, embryologic studies have shown that the distal gut of the lethal spotted embryo never contains cells with neurogenic potential, supporting the hypothesis that intestinal aganglionosis results from the absence of neural colonization, rather than from the degradation of neurons. Recently a series of elegant experiments has been described that suggests that in lethal spotted and piebald lethal mice, the congenital aganglionosis is caused by an alteration in the microenvironment of the intestinal wall of the affected area, which in some way inhibits the colonization of the distal gut with neuroblasts. In these experiments, co-culture of embryonichind guts from the mouse strains with embryonic neuroblasts from affected and wild type animals revealed that the affected enteric segments did not allow the ingrowth of normal neural crest cells. In contrast, the hindgut of normal animals was able to support the growth of neuroblasts from both affected and wild type animals. From these in vitro data, the investigators concluded that the essential defect in these mice strains is in the milieu of the gut wall, which prevents normal development of the enteric nervous system. The notion that the fundamental defect is in the microenvironment of the bowel wall, preventing ingrowth of neuroblasts, rather than intrinsically within the neuroblasts, is further supported by another line of in vivo evidence. A series of wild type lethal spotted chimeric mice were created in which a genetic marker that allowed the investigators to distinguish the origin of the neuroblasts was present. In phenotypically normal animals, in which no megacolon was present, ganglion cells that were derived from the lethal spotted species were found in the gut. Thus no intrinsic defect was present in these cells. Moreover, the aganglionic phenotype was only seen in mice in which more than 80% of the mesenchymal cells were derived from the lethal spotted genome. Presumably, the microenvironmental defect can be compensated for if only approximately 20% of the cells are normal. These investigators concluded that in the lethal spotted mouse, the primary defect responsible for the absence of enteric ganglia in the distal colon is not autonomous to the migrating neuroblasts, but rather results from a primary defect in the surrounding mesenchyme of the intestinal wall. In another study these investigators demonstrated that the migration pattern of enteric neuroblasts in the colon differs from that in the small intestine. Moreover, there is a delay of transit through the ileocecal region, which may be responsible for the inability of the neuroblasts to colonize the entire colon. More recently, the nature of the genetic mutation responsible for the piebald lethal strain of mice was elucidated. In these mice there is complete absence of the endothelin-B receptor (EDNRB) gene. Moreover, when the EDNRB gene was disrupted in knockout mice, the animals exhibited a phenotype indistinguishable from piebaldism. When such mice were crossbred with piebald lethal mice, there was no complementation of the aganglionic phenotype, proving that EDNRB is the responsible gene for the piebald lethal syndrome. To further investigate how EDNRB affects migration of enteric neuroblasts into the distal colon, the same investigators created mice in which there was deletion of the endothelin-3 ligand gene. This is the ligand that interacts with the EDNRB receptor, and its absence results in the development of mice with the recessive phenotype of aganglionic megacolon with coat spotting, identical to the murine lethal spotting phenotype. Moreover, in lethal spotting mice the endothelin-3 gene is mutated, completely preventing its activation. These studies have demonstrated conclusively in the murine model that the interaction between the EDNRB receptor and the endothelin-3 ligand is essential for migration of enteric neuroblasts into the distal colon and the disruption of either of these genes results in failure in this migration, with the subsequent development of clinical findings similar to Hirschsprung's disease. In human beings, several different genes have been shown to be responsible for the development of Hirschsprung's disease. First, link- age data localized the causative gene to chromosome 10 in one kindred demonstrating autosomal-dominant inheritance of Hirschsprung's disease. The gene was further localized to the pericentromeric region of the chromosome. The responsible gene was subsequently found to be the RET protooncogene, which was found to possess missense mutations in affected patients. There is incomplete penetrance of the aganglionic trait in the kindreds with the RET mutation. As is the case with other familial types of Hirschsprung's disease, there is a higher incidence of long-segment aganglionosis in the affected patients, although short-segment disease also may be associated with RET mutations. Moreover, the length of aganglionosis may vary within a family. Mutations to the RET protooncogene, a gene that encodes for a receptor tyrosine kinase protein, have also been found to have arisen de novo in some sporadic (nonfamiliar) cases of Hirschsprung's disease. Mutations in this gene have also been associated with the MEN 2A and MEN 2B syndromes, in which affected individuals have neoplasms of tissues. Indeed, in the RET-knockout transgenic mouse, there is a complete absence of enteric neurons throughout the alimentary tract and renal agenesis or dysgenesis. Several conditions are associated with mutations in the RET protooncogene. The specific phenotype depends on the position and type of mutation and, in the case of Hirschsprung's disease, other genes or environmental factors account for the variable penetrance and the differing lengths of the aganglionic bowel segment. The MEN 2 syndromes are caused by mutations in the RET gene that result in constitutive tyrosine kinase activity, increasing the signal for vulnerable cells to undergo mitosis. In Hirschsprung's disease, however, the missense and nonsense mutations in RET result in an inactivated or truncated protein. This decrease in total RET protein dosage apparently plays a critical role in the development of enteric neurons. Autosomally inherited aganglionosis is relatively unusual; approximately 80% of Hirschsprung's disease cases can be ascribed to the inheritance of recessive genes or are polygenic in origin. Recently the genes that confer susceptibility to Hirschsprung's disease in affected members of Mennonite kindred were elucidated with segregation analysis. The major genetic locus responsible for the disease was found to reside at chromosome 13q22. Evidence was also found in the kindred for the existence of a genetic modifier for Hirschsprung's disease located on chromosome 21. This genetic locus may account for the greater incidence of the disease in patients with Down's syndrome. Further study of this Mennonite pedigree revealed that the major genetic lesion responsible for Hirschsprung's disease is a missense mutation in the EDNRB, a situation that is analogous to the piebald-lethal mouse strain. In the Mennonite kindred the mutation was neither completely autosomal nor completely dominant; instead, there was apparently a dosage effect in that the penetrance of Hirschsprung's disease was 74% in those who had homozygous mutation of EDNRB but only 21% in heterozygotes. The marked variation in the penetrance of the disease and the significant sex-related difference in disease expression support the muligenic nature of the disease. Yet another tyrosine kinase growth factor has been implicated in the pathogenesis of Hirschsprung's disease. Mutation of the c-kit protooncogene has recently been shown to be responsible for human piebaldism, which is a dominant trait characterized by patches of hypopigmented skin and hair and may be related to Wardenberg's syndrome. The trait is thought to result from defective melanocyte migration out of the neural crest. Other cell lines are affected as well. The coincidence of piebaldism and Hirschsprung's disease has been described in a number of individuals, suggesting the presence of a general defect in migration of cells derived from the neural crest. The different clinical syndromes associated with human piebaldism may be associated with different c-kit mutations, which is reminiscent of the different conditions resulting from mutations in the RET protooncogene. It is interesting that in mice the c-kit protein has also been implicated to play an important role in the development of the autonomic pacemaker system of the gut. Recent studies in human beings have documented a reduced c-kit protein level in aganglionic bowel relative to normal bowel. Thus c-kit is another gene that may be important in some cases of Hirschsprung's disease. The microenvironment of the bowel wall in patients with Hirschsprung's disease has been evaluated in multiple studies. When aganglionic intestine has been compared with normal intestine, difference have been found in the levels of laminin, NAPH-diaphorase, and neural cell adhesion molecule. Furthermore, many neuropeptides thought to be important in gut innervation have also been investigated.

In these studies, alterations have been found in the levels of nerve growth factor, neuropeptide-Y, vasoactive intestinal peptide, substance P, metenkephalin, and gastrin releasing peptide when ganglionic bowel has been compared with aganglionic bowel. The specific mechanisms by which gut motility is affected by alterations in the levels of these various substances remain to be elucidated. Recently much attention has been directed toward the possible role of nitric oxide in the altered gut motility associated with Hirschsprung's disease. This substance was originally known as endothelium-derived relaxing factor, a smooth-muscle relaxant present ubiquitously within the body. Nitric oxide is used as a chemical messenger by the nonadrenergic noncholinergic nerves of the intestine and is thought to be an important mediator of gut relaxation. Nitric oxide synthase is reduced within the aganglionic portions of intestine in patients with Hirschsprung's disease, and this phenomenon is postulated to account for the inability of these portions of the gut to relax during peristalsis. Further support for this notion is provided by experiments in which isolated muscle strips from aganglionic bowel exhibited dose-dependant relaxation when incubated in the presence of exogenously applied nitric oxide. The relaxation was abrogated in the presence of methylene blue, which is known to block the action of nitric oxide. Thus the nonadrenergic noncholinergic enteric nervous system is likely important in normal bowel relaxation, and deficiency of these nerves may be responsible for the altered gut motility seen in patients with Hirschsprung's disease. To summarize what is known about the genetic cause of Hirschsprung's disease, the condition probably results from a failure of enteric neuroblasts to populate a variable length of the distal alimentary tract. Most of the data from animal models with aganglionosis support the assertion that the basic defect is in the microenvironment of the bowel wall; there is apparently a congenital absence of a factor or factors that are necessary for normal migration and development of the gut ganglion cells. The different animal models for congenital aganglionosis suggest that several specific molecular or genetic pathways may be altered to result in the absence of enteric ganglion cells. Most of the known genes thought to be responsible for Hirschsprung's disease (or aganglionosis in the complementary animal model) are from the family of genes encoding for receptor tyrosine kinase molecules or for the ligands to such molecules. Thus there are apparently defects in embryonic tissues derived from the neural crest either within the growth-signaling pathway or with cell to cell communication that prevents the proper growth and migration of the enteric neuron cells. This is an especially attractive hypothesis in the case of patients with a mutated RET protooncogene, because the RET protein has a cadherin-like domain known to be important in intracellular signaling. The differences between normal gut and the Hirschsprung's intestine with regard to the presence of neuropeptides and other putative neural-receptor ligands such as nitric oxide probably reflect the different neural milieu present in the aganglionic bowel. The decreased number of nerves synthesizing nitric oxide may be the final common pathway responsible for the decreased gut relaxation. The challenge for the future is the further elucidation of the molecular mechanisms responsible for the altered intestinal physiologic makeup associated with Hirschsprung's disease. The ultimate aim remains the rational correction or management of the altered intestinal motility.

Welcome to Guardians. First off let me introduce myself. My name is Carolyn Rosado, I live in Kentucky with my seven children, although we have a total of eleven children BUT seven still home, and my husband who is a minister at the Church of God here in Kentucky. In November of 1995 I gave birth to a beautiful baby girl who was born with Hirschsprung's disease! Needless to say Kayla was at Death's DOOR! As many of the children have been that suffer Hirschsprung's disease, Kayla suffered and almost died needlessly because of the lack of knowledge here in Kentucky on Hirschsprung's disease. If only they had known, Kayla would NOT have suffered as long as she did. Which brings me to my second thing I would like to address as Vice President. I want to give a SPECIAL thanks to Kim R. Kim has carried a personal burden for our special children. She has a caring heart to have founded Guardians, so that the world can become knowledgeable of Hirschsprung's disease. This will decrease the suffering of our children and even save their lives! You would be surprised on how many small towns and even bigger states that the Doctors have never heard of Hirschsprung's disease. I stand as a mom in Kentucky and know as I watched my daughter DIE daily and I questioned the doctors, all 38 of them and they tell me in my tear filled eyes that they have no ideal why and what she is dying of! I am so thankful that God has led Kim to founded Guardians for the sole purpose to inform the world of this terrible rare disease and diseases like it. Now for my challenge to you, I ask each and everyone who reads this letter to please support Kim in helping to get and keep Guardians going. We all know that in any organization it takes funds to keep it going and it must have Support from caring people like yourselves in order for it to be successful. Even Jesus Christ himself, said "suffer NOT the Children to come unto me, for such is the Kingdom of Heaven." I say they have suffered long enough, I ask you to please search your hearts and if you are led, any donations toward this cause will be GREATLY appreciated. Visit the site at http://wg.rnet.com/maniac/guardian.htm, and see for yourselves. Thank you in advance for your help. You may also e-mail the president at maniac@rnet.com. What greater accomplishment then to help ease the suffering of our children. Let's do as the Lord has asked us, He said not to close our bowels of compassion for people. Thank you for caring, Kim. Thank you for caring not only for your child, but caring for mine too.

Well, here we are on our third newsletter and I bet you're all wondering who is this weird person who is invading our privacy and bugging us so much. Well, let me tell you our story. My husband and I were married 20 years ago. Yep, I am an old, old lady compared to most of you. We have 6 children, 4 girls, Cassiopeia, age 16; Tabatha, age 15; Sasha, age 13; Megan, age 12, two boys, Cephas, age 3 and Terran, 14 months, and believe it or not we have a grandbaby who was born two months before Terran. Her name is Elexys Marie. I came online in February of 1997 because like most of you I had a special child and I needed information so I dove in and became an intent newbie and boy did I make mistakes. Our son was born August 16, 1997. He went home when he was 12 hours old. 5 days later after failing all attempts to get the child to feed he began to vomit bile, and was airlifted from our small home town of Quincy, Illinois to St. Louis, Missouri where he was diagnosed with Hirschsprung's Disease by Mike Skinner M.D. A few months later Mike performed a Soave pullthrough on him, it's been a long first year filled with lots of trials and tribulations lots of learning on my part. We have learned tons form the internet and tons from parents who have been there so much that we decided to share our knowledge with others that may not have been so lucky to have found help early. We started Guardian because we wanted to help parents not to feel so alone. I know the feeling of being isolated in a small town. It's hard to make friends when your child is ill, but I have loads of wonderful friends via the Internet and look forward to learning more about all of you. I expect to make loads of mistakes as we all do. As I am a Christian I pray for each and every one of you on a daily basis. Each day I hear from parents struggling. Together we share strength, joy, sadness, and gladness. Some stories break my heart but those hard stories from Jennie and Lorrie prove to me that what we at Guardian do is important and necessary. Please join us and help us alleviate some of the pain that is caused. Help us to help our children grow to be productive members of society, and help us remember our lost angels and suffering angels by wearing a ribbon and telling our children's stories.

This newsletter of the Guardian society is intended to report items of interest with regard to Hirschsprung's disease, and other motility disorders. We do NOT promote or recommend any therapy, treatment, etc. The family should discuss anything printed in this newsletter and its relevance to a particular person with their own physicians. Our hope is that this method of communication will promote interaction and the exchange of information between parents and foster support among families.

All contributions to The Guardian become the property of The Guardian Society and may be edited or condensed at the discretion of the Editorial Staff (with the exception of published works).