The Guardian Newsletter online September 1997

**** Alex's Story ****

Alex was born on July 5, 1996, almost three weeks early (due on July 21, 1996). She was delivered by a midwife at the birthing center that joined the hospital. She weighed in at 7 lbs. 3.5 oz and was absolutely beautiful. She had lots of downy dark brown hair that always stood straight up on her head. This was her trademark. Everyone loved her hair.

Alex was an angel. We felt so blessed to be her parents. She loved to be held, hardly ever cried, and had mild colic only a few times. She was so precious. We really doted on her. She was our second child, but for some reason we knew she was special. I had a feeling that Alex was only going to be here for a short time. This sounds crazy because she was perfectly healthy. I would just push that feeling aside when it came. We loved her so much. I never knew what love was until we had Kate and I never believed that love could be duplicated until Alex.

Alex never passed her meconium and wouldn't breastfeed for 36 hours after she was born. We were admitted to the hospital again so she could be monitored. The pediatrician forced Alex to pass her meconium and did a couple of x-rays. The x-rays showed an enlarged bowel, but he felt it was because she didn't pass her meconium immediately after birth. We felt confident that he was right and never really gave it a second thought.

Two weeks before Alex died, she wouldn't breastfeed anymore. This really bothered me, but she would take the bottle very well. We always supplemented her with formula, so we weren't too concerned about giving it to her. She seemed to be getting constipated from the formula (which we also understood to be normal). I gave her a suppository and she would have a bowel movement. However, I still felt something was wrong. My husband felt that everything was fine. On Friday November 22, we took her to the family doctor. I was sobbing uncontrollable as I toldher Alex's symptoms.

--> she hasn't been eatting properly

--> she vomited the previous day

--> her stool was round and hard and smelt awful

--> her rectum was very red and fleshy when she pushed

The doctor checked her stomach to make sure everything was working properly. She checked her temperature and it was 105. I was astonished. We didn't even know she had a temperature. She took Alex's temp rectally and Alex had a bowel movement. She saw her rectum and told me that her stool was normal and that the rectum gets red and fleshy when babies are constipated. She assured us that Alex only had the flu. I asked her how a baby could have the flu for two weeks. She said that this was possible. I also asked her if she was sure that this had nothing to do with when she was born. After leaving her office, we felt relieved and assured that Alex only had the flu. We weren't to worry if she didn't want to eat because even adults don't like to eat when they are sick.

The next day and a half went by with more flu like symptoms. We were forcing Alex to drink water. We were constantly feeding her water from an eye dropper because she wouldn't take the bottle. My husband, Allan, and I were taking turns staying up with her that night. At 2:00 am she finally drank 3 ounzes of water by herself and was looking much better. I woke up Allan to take his turn. I was so excited because I thought she was getting better. So did he. At 4:00 am he fell asleep with her on his chest. At 5:00 am he woke up and she was barely breathing. We rushed her to emergency. They worked on her for a while. It was terrible. Her body just shut down. I never thought for a second that she was going to die.

The autopsy showed that she had Hirschsprung Disease. Hirschsprung's Disease is where a portion of the bowel is missing nerves. In her case, it was the descending bowel. The way I understand it is that she died from toxic shock. We found out after she died, that the pediatrician had ruled this out at her birth because she started eatting and having regular bowel movements. She also was gaining weight well. Generally Hirschsprung babies are colicy and do not thrive. Maybe this is because she was breastfed.

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There is a lot more happy stuff in the middle of this story. I have been writing them out slowly. I dwell mainly on the last week of her life. I used to believe that doctors knew everything. Not anymore.

Thanks for reading Alex's story.

Jeannie Cooper http://www.iamaangel.com/alex.html

Please let us all take a moment to say a special prayer for this mom and her family. May God give them the strength and courage to survive the loss of their darling angel and a sense of hope for the future.

STOP THE MADNESS CAMPAIGN

Due to the senseless loss of not only little Alex Cooper, but many other precious children who have died and are dying, we have begun a STOP THE MADNESS campaign. The goal we hope to achieve is one of information to stop the misdiagnosis, and undiagnosis of these rare disorders and to save other children from dying needlessly. As parents we must fight the medical system as well as insurance companies to obtain "adequate" medical care for our children, and at times it's hardly that. With this campaign we hopt to raise awareness and STOP THE MADNESS!!! The symbol we have chosen to use is a burgandy or wine colored ribbon. This represents the children who have died needlessly and with this ribbon we honor their loss.

Special Article

There's recently been a lot of talk about a procedure for children with Hirschsprung's disease called the Malone, it's also used to correct other things. Dr. Humberto L. Lugo-Vincente, M.D., has written a brief description of this in Pediatric Surgery Udate, Volume 9, Number 3, September 1997.

Malone Stoma

This safe and highly effective novel technique was introduced by PS Malone in 1990. Consist of building a continent appendicocecostomy through which the cecum is intermittently catheterized for administration of an antegrade enema to manage fecal soiling, incontinence, and even intractable constipation if nonsurgical management has failed. This includes children with anorectal malformations, neuropathic etiology (spina bifida, spinal cord injury), and sphincteric trauma. Originally described as reversing the appendix and reimplanting it into the cecum with a submucous tunnel to diminish reflux, the procedure has undergone several modifications such as orthotopic cecal imbrication, the fixation of the ileocecal region at the inner side of the abdominal wall after creation of an appendicocutaneous catheterizable stoma, laparoscopic approach, tubularized cecal or ileal flap in those without an appendix, and the use of a button. The child will catheterize once or twice a day washing his distal colon. Most families are satisfied since the child spends more time in normal activities and school. A level of commitment by the child and family is needed. Children with colonic motility disorders and incontinence may not beneficiate from this procedure. The stoma might break, stenosed, closed, or bleed in a few cases. If the child is socially continent with a regimen of enemas, suppositories or washouts, he should continue that way.

Part Two of a Ten Part Series Current Problems in Surgery Volume XXXIII Number 5 May 1996 ISSN 0011-3840 Pages 400-402

HIRSCHSPRUNG'S DISEASE

INTRODUCTION

Hirschsprung's disease is one of the more common conditions treated by pediatric surgeons. Characterized by the absence of myenteric and submucosal ganglionic cells of the distal alimentary tract, Hirschsprung's disease results in decreased motility in the affected bowel segment. Patients with untreated Hirschsprung's disease may present for medical attention with symptoms ranging from severe constipation to life-threatening sepsis related to enterocolitis. The clinical outcome for affected patients has improved dramatically withe the development of effective surgical procedures for managing ths disease.

HISTORICAL ASPECTS

The first report of a patient with Hirschsprung's disease was in 1691 by Frederick Ruysch in an autopsy report of a 5-year-old girl who died with unremitting constipation. His description, translated from the Latin text, was that of a "...five year-old girl (who) had been complaining for a long while of abdominal cramps. Whatever remedies have the abil- ity to ease pain, dispel flatus, or kill worms were tried several times and found useless; for the pains continued and finally she died. When the small body was opened, I could see (to my amazement) hardly any abdominal viscus except that part of the colon where the rectum begins. The other viscera were hidden under an enormous extension of that part." Several more cases of the disease were noted before the classical description of congenital megacolon by Harald Hirschsprung, pub- lished in 1886. In this report he described the autopsy findings of massively dialated colon with muscular hypertrophy proximal to more normal colon in two infants who had severe constipation and abdominal distention since birth. The pathophysiologic features of Hirschsprung's disease remained in question until 1901, when Tittel noted the histologic finding of absent ganglionic cells in the bowel wall of a 15-month-old infant with congenital constipation. He also speculated that this abnormality may be responsible for the altered bowel motility. For many years the significance of this histologic finding was minimized and the absence of ganglion cells was generally thought to be a result of the proximal megacolon rather than responsible for the condition. Early in this century, most clinicians thought that the colonic dilatation in Hirschsprung's disease resulted from a neurologic imbalance between the sympathetic and parasympathetic neurologic innervation of the colon. In 1908, several theories for neuropathic dilation of the colon were advanced, and for many years, it was thought that the motility abnormality was primarily related to the proximally dilated portion of the bowel. Moreover, no differentiation was made of the various causes of megacolon, and pharmacologic and surgical treatment was directed specifically at the dilated segment. Specific treatement modalities included surgical sympathectomy adn the administration of parasympathomimetic agents. By 1940, several more reports had noted the absence of ganglion cells in the colons of affected patients when Tiffen and colleagues concluded that the proximally dilated colon resulted from pseudoobstruction caused by absent peristasis in the distal segment. This notion was not widely accepted and during the early 1940s it was still generally recommended that children with congenital megacolon undergo sympathectomy or subtotal colectomy. Investigators continued to confirm the absence of ganglion cells within the distal contracted colon segment, and in 1948, Orvar Swenson and Alexander Bill presented their insightful elucidation of the pathopysiologic makeup of Hirschsprung's disease. This finally allowed the development of operative procedures to treat the condition definitively. Swenson's conclusion that the proximal megacolon results from an absence of distal peristalsis was made after he studied a 5-year-old child in whom the placement of a sigmoid colostomy resulted in marked improvement in the the patient's condition. When the colostomy was closed 1 year later, the symptoms of malnutrition and chronic constipation recurred. The child improved again after another diverting colostomy was created. Dr. Swenson believed that the child was behaving as if he had a distal colon obstruction, and manometry demonstrated the absence of peristaltic activity. He then performed his pioneering definitive procedure for Hirschsprung's disease by removing the distal rectosigmoid colon and performing a colonanastomosis. The first series of patients with congenital megacolon treated with Swenson's operation was published in 1949. Other surgical procedures were then developed to treat patients with Hirschsprung's disease. The Duhamel procedure was devised to prevent the anterior dissection required by the Swenson operation. There have since been several modifications described that simplify the Duhamel procedure and aim to decrease the frequency of postoperative complications. The endorectal pull-through operation originally described by Ravitch and Sabiston was modified by Soave for use in children with Hirschsprung's disease. The Boley modification of the Soave procedure, in which a formal anastomosis is constructed at the anus, was described in 1964. Most pediatric surgeons performing the endorectal pull-through procedure use the Boley modification, but by convention it is usually still termed the Soave procedure. Today, approximately 35% of pediatric surgeons treat patients with the Soave procedure; roughly the same number use the modified Duhamel procedure, and a slightly lower percentage use the Swenson operation. Written by Dr. Michael Skinner, Pediatric Surgeon, St. Louis Children's Hospital

Updates on The Guardian Society

The Guardian Society is an organization created to offer support and information to parents of children with motility disorders as well as to adults with motility disorders. We were organized barely two and a half months ago and currently have approximately 150 online and offline members. Members who are online receive the newsletter through electronic means, and those offline receive them by U.S. Postal mail. Online members enjoy use of a listserver to post messages to other parents/adults who share their experiences, pains, and joys. There is also now a new chat room available to adults as well as kids. We are working on setting up specific times. The kid's chat was set up by Mike Vannan, and the adult chat, by Kimberly Robinstein. To find chat information and updates go to http://wg.rnet.com/maniac/discuss.htm. This past month the web pages, which begin at: http://wg.rnt.com/maniac/guardian.htm have undergone some serious making over. The new changes should be accredited to Kim Robinstein and Angel May Bennett, our new Web Page Designer. There is a book, available through a link on the web, written by Dr. Michael Skinner, there are lists of articles available to any one interested. There's a link to join the group. The look on some pages is also different. It's highly recommended that anyone who hasn't been to the web pages recently go and check out all the new information.

This month we have some new additions to the Guardian Society. First, we have a new pastor, David Cairns, who is working with our current pastor, Paul Rosado. We have begun Regional Support Persons to help address needs of members in their locations and to help distribute information about our group to others. The Regional Support Persons are :

Gerry McGregor; England Connie Thompson; Bakersfield, CA Angela Ogletree; Los Angeles, CA Joan Foley and Kim Ulacco; AZ Ken and Kathy Sizemore; SC Beatrix Vannan; Canada Melvin and Marita Sparks; TX Lisa McDaniel; UT Kelly Clark; PA Michelle and David Cairns; CA Carolyn and Paul Rosado; KY Paula Seifert; MN Angela May Bennett; San Francisco, CA Karen Higgs; GA Kimberly Gammon; OK

SIB TO SIB

Sib to sib was meant to link the siblings of our "special" kids together in an effort to include them in everything since having a sibling with a motility disorder not only affects the "special" child, but the other children in the home as well. Anyone interested in finding a "pen pal" for their children should contact maniac@rnet.com or bette24@hotmail.com to get the kids together.

FOR YOUR INFORMATION

Many of you face the challenge of finding adequate respite care for your children so you can go shopping, on a date with your husband/boyfriend, etc. Here is a place to begin your search. Hope it helps.

The National Respite Locator Service Phone: 1-800-7RELIEF (1-800-773-5433) Mon-Fri, 8:30AM - 5:00PM EST

Recently one of our group's hot topics is formula vs milk. You will be happy to know that for children who cannot tolerate milk products, but are too old for formula can drink Pediasure. It comes in various flavors and with or without fiber. For Hirschsprung's kids, fiber is a good bulkening item. For children with refulx, GERD, etc, the pediasure can be used through g-tube and the like. Most insurances will pay for at least part of the monthly supply.

A big problem many of our children face is constipation. A good rememdy that has been found (but we can't prove medically that it works) is malt extract. This loosens the stool and makes it easier to pass through. Malt extract can be found in many pharmacies (but it is $40.0) a jar, or at local breweries.

MOM AND DAUGHTER OF THE MONTH

Kim was diagnosed with long segment (total colon) Hirschsprung's disease (HD) at five weeks of age. She was a fussy baby and cried all the time. She alternated between constipation and diarrhea. She could drink no more than an ounce of formula at each feeding. I called my pediatrician and he told me to not to worry.

By the time she was a month old I was very concerned about her. She was crying all the time and seemed miserable. The doctor was a little concerned because she had not gained back to her birth weight and actually had lost weight but said that she probably had an "immature digestive system." He said that her formula was not agreeing with her and that we should change to a non-milk-based formula. I mentioned a few other things that I had noticed such as the fact that her abdomen looked swollen, the blood vessels were very prominent, and that I could see her intestines working through her abdominal wall. He told me once again not to worry.

I took her home and started her on her new formula. She got worse than she was before. Within two days she was vomiting everything she tried to eat and finally started vomiting green bile. I called the doctor again that evening. I knew he had to see her and at my insistence, he agreed to meet me her. He took one look at her and listened with his stethoscope to her abdomen and immediately sent us to Children's Hospital of Los Angeles. We rushed her over to the Emergency Room there. The intern there asked me "if she was always this color" (by this time she was very gray. She was admitted and put in isolation (they thought she was septic meaning that she had an infection in her blood which is a very dangerous situation). By the time we had to leave her that night, they had finally figured out that she most likely had some form of HD. There was no place for me to stay so I had to go home.

On that Friday morning when I went down to see her, she looked all swollen and absolutely awful. By the end of the day, her belly was swollen so that she looked like a pregnant lady. They had planned on operating on Monday but the surgeon said she would die by Monday if they waited so the surgery was done on Saturday instead.

That was such a scary time for me. My husband and I knew nothing about HD at that time, and all I knew was that my baby was possibly dying and there was no one to talk to about it with or get information from except the surgeon and he was totally occupied with saving her life. It turned out that he had trained under Dr. Swenson who created the Swenson pull-through which is what they did on her. He was great. After the surgery when we saw her, she was swollen all over with drains and tubes and her head shaved with an intravenous (IV) line in it. She had just enough strength for a feeble little sob every few minutes. The nurses noted that she was more calm in the Pediatric Intensive Care Unit when I was there, so they let me stay with her.

She slowly recovered and I was trained in ileostomy care (not colostomy because she had her colon removed). I was also trained in the care of the infection that had developed around her ostomy site which they had to open up so that the infection could heal. I brought her home.

She was home for two days and the vomiting started again. Kim returned to CHLA for a three-week stay with severe enteritis (infection of entire intestinal tract). Three weeks later and almost three months old, my baby left the hospital weighing one pound less than she had at birth (she had been born at 7 pounds 2 ounces). There were a couple more enteritis attacks but by then, I had learned about irrigating her ileostomy to clean it out so that she would not develop the enteritis.

Gradually she began gaining weight (she was on Nutramigen to which I later added rice cereal which was easily digestable). Soon the medical problems became less but the problems of management took their place. At first, gauze pads and diapers around her middle were the only requirements but shortly this was not enough protection to keep her skin from being eaten away and raw from the acids in her small intestine. They are meant to digest food but they also digested her skin. The surgeon did not know about ostomy equipment at that time so I found and contacted the Ostomy Association. Through them I found a local company where they customized a two-piece ileostomy appliance for her our of metal. It was big enough to cover almost her entire stomach because she was so tiny. The disposable bags were very large for such a tiny baby, so I started using the Playtex nurser bags instead. They were just the right size and worked well for quite a while. Also through the Ostomy Association I learned about bismuth subgallate powder could could stop offensive odors. We received our doctor's permission to use it, so I mixed it with applesauce and she ate it. IT WORKED and she smelled much better. She was also gaining weight rapidly on the rice cereal and formula. Her skin was good because by that time I had found the karaya powder. The Ostomy Association had also told me about karaya rings that went around the stoma under the ostomy appliance.

She did well except for clawing at her abdomen when it itched and tearing her skin apart and sliding down the couch on her stomach, ripping the bag off the appliance. I was very fortunate to have two wonderful teenagers next door who became my life savers. They learned how to care for the ostomy in case I was ever gone and the bag came off.

At two years of age, Dr. Weitman decided that Kim was strong enough to have the second of three operations, the removal of her colon (she had been too ill to remove it with her first surgery) and creation of another ostomy until the pull-through site could heal and then six weeks later, right after Christmas, she had the third surgery because she was leaking from both the ostomy and the pull-through site. I was thrilled at how she was recovering and thought I was through with all her problems. Soon, I realized that the skin problems were going to be a major problem. Her poor little bottom was raw and getting worse. She screamed when I had to clean her up. I had to do her irrigations (similar to enemas) twice a day to keep the enteritis away. I tried plain karaya powder on her but it would not stay on. I tried holding it on with Saran Wrap. I tried cutting up the round wafers from the ostomy equipment and sticking them on. They wouldn't stay on either. I then tried mixing karaya powder with diaper cream to see if that would work AND IT DID! It was like a miracle had happened. As long as I kept her plastered with the karaya/Desitin or Perianal mixture, her skin looked great and she was happy.

When I took her back to the surgeon, he asked me what I was doing because he said he had never seen skin look so good so soon after surgery. I told him what I was doing. I also told him that I was giving her Gatorade which had come out at that time as a sports drink. I figured if it had the elements in it to keep atheletes from dehydrating (this was our biggest worry with her), it could work on her. He laughed at me but later ended up telling all his patients' families about using it. He also apologized for not listening to me. He had not realized how hard it was to take care of a baby with an ostomy. You have to remember that this was before anyone knew much about HD and he probably knew more than any other surgeon at that hospital.

Over the years, I experimented with various foods and irrigation methods until she as able to eat almost everything. We were still always on guard for dehydration. The colon that is missing is the water-absorbing part of the intestinal tract and when you do not have that, you lose A LOT OF FLUID that the colon would have absorbed, so it did not take long for her to become dehydrated.

She did really well. The major problem I had at that time was getting school personnel to be aware so they could let her stay in the bathroom as long as it took and not to think that she was in there playing (to this day she still takes a long time in the bathroom). She really didn't know that she was any different. She had no idea that I was talking to the school every new school year until she got into the third or fourth grade. Junior high and high school were different problems. I will let Kim tell you that when she does her part of this article.

I tried to remind her over the years to eat her vitamins and I tried to convince her to drink plenty of fluids. She still thought she was normal. I didn't want to discourage that but at the same time, I didn't want her to get seriously ill any more.

She is a beautiful grown woman now, married and she and her husband, Rick, are expecting a baby girl of their own. We hope this baby does not have HD but if she does, we will be prepared.

TO BE CONTINUED BY KIM

Written by Joan Foley

Look for the continuation of this story next month after the birth of Kim Ulacco's daughter and Joan Foley's grandaughter!!!

JUST FOR FUN

Family Stress Test

Life can be crazy in between taking the children to doctor appointments, physical therapy, nutritionists, etc, let's take some time now just for us. Sit yourself down, and take a few mintues to have a little fun. Some of our members have sent in some fun things. Give yourself five minutes out of today to enjoy them. Score 0 if the statement is never true, 1 if it is rarely true, 2 if it is sometimes true, and 3 if it is always true. 1. ____ Conversations often begin with "Put the gun down, and then we can talk". 2. ____ The school principal has your number on speed-dial. 3. ____ The cat is on Valium. 4. ____ People have trouble understanding your kids, because they learned to speak through clenched teeth. 5. ____ You are trying to get your four-year-old to switch to decaf. 6. ____ The number of jobs held down by family members exceeds the number of people in the family. 7. ____ No one has _time_ to wait for microwave TV dinners. 8. ____ "Family meetings" are often mediated by law enforcement officials. 9. ____ You have to check your kid's day-timer to see if he can take out the trash. 10.____Maxwell House gives you industrial rates. Scoring: 30 - a perfect score. Welcome to the neighborhood! 20-29 - You are doing reasonably well, but still have too little going on in your life. Crank it up. 10-19 - You have mastered some of the aspects of the stress-filled life, but still have a long way to go. Have you considered a parallel career path? 0-9 - Enjoying all that extra time? What do you _do_ anyway?

Here's a cute little something that a member sent to me. I thought I deserved to be in the newsletter due to the number of us who are on and off the internet all day long!

Wolfish Wrote: God, grant me the serenity to accept a post I cannot change, Courage to walk past the computer without turning it on when I'm running late for work, And the wisdom to know the difference between "come to bed now" meaning "let's have some fun" and "come to bed NOW" meaning "that computer has got to go

NOTICE

This newsletter of The Guardian Support Group is intended to report items of interest with regard to Hirschsprung's Disease, GERD and other motility disorders. We neither promote, nor recommend any therapy, treatment, etc. The relevance of anything printed in this newsletter to a particular person should be discussed by the family with their own physicians. Our hope is that this method of continued up to date information will promote communication between parents and foster support among families. All rights reserved