The Guardian

August 1997

The Guardian Updates

There is so much stuff going on in The Guardian Support Group these days it can be so difficult to keep up, so here is where you can learn all about it !!

First off, Carolyn Rosado, Vice President as well as Web Designer, and Kimberly Robinstein, President, have been working themselves to death on our web pages. Feel free to take a peek at the updated pages at : http://wg.rnet.com/maniac/guardian.htm They look great and are very informative.

In the pages are links to get to know the board members better and to see what services are available to you and your family. We have recently acquired an ordained pastor, Rev. Paul Rosado, who is on hand 24 hrs a day 7 days a week. Please do not hesitate to contact him if you're in need of moral support and prayers for yourself or your children. There are also links to other members' web pages, take the time to get to know fellow members. We have an awesome group of people gathered here, let's learn more about eachother.

Our listserver is up and running!!! Contact maniac@rnet.com to get details on subscribing. This will connect you with other parents facing similar challenges as yourself.

Many of our members talk with eachother in ICQ chat. This program allows chat, messaging, and file transferring online. You need only be connected to use it. To get more information go to our web page and find the link for ICQ. As The Guardian grows we will keep you informed on the goings on in the group.

Medication Information

Here is information from Children's Motility Disorder site. Since children with motility disorders as well as those with Hirschsprung's Disease, GERD, and other such anomalies take a wide variety of medications this information may be helpful in the future.

Serious cardiac side effects have been reported in patients taking Propulsid in combination with drugs such as erythromycin, clarithromycin, NIZORAL® (ketoconazole) tablets, SPORANOX® (itraconazole) capsules, MONISTAT® i.vtm (miconazole), fluconazole, or TAO® (troleandomycin) capsules. For more detailed information, see the official cisapride package insert, or The New England Journal of Medicine, July 25, 1996 -- Volume 335, Number 4. Erythromycin Erythromycin, a commonly used macrolide antibiotic agent, has emerged as a potential prokinetic agent through investigations into the mechanism of the well-recognized gastrointestinal side effects of the drug

. Internet Links MedLine Searching
These sites allow you to do free medline searches
Health Gate Medline Access http://www.healthgate.com/HealthGate/MEDLINE/search.shtml Health World Medline Access http://www.healthy.net/library/search/medline.htm
National Library of Medicine http://www.ncbi.nlm.nih.gov/PubMed/ Avicenna -
Medline Access is free but you need to register first. http://www.avicenna.com/ MedScape - Medline Access is free but you need to register first. http://www.medscape.com/
Anyone interested in resources for disabled children might be interested in Kids R Kids, Inc. To check out their web site go to:
http://www.kidsrkids.org
 

Mom and Child of the Month Patrick's Odyssey
by Beatrix Vannan

When Patrick entered the world on November the 12,1992, everything seemed normal and joyous. He looked just like his other four brothers. We couldn't wait to get him home to enjoy our new addition. A day after his birth, while still in hospital, things started to turn strange. The nurse awoke me at midnight telling me that he had thrown up again and I was feeding him to much or he was allergic to my milk. I was to clean him if he did it again because she was tired of doing it. I was starting to worry , because he was throwing up green. So early in the morning another nurse put the tube down him but his tummy was empty. I asked them if he had pooped and it showed that he had. But I never saw any of it while I changed him. Despite this he went home on a Saturday and we began to be nervous about his constant vomiting. By Monday morning I was in tears. I though he looked terrible yellow and his tummy was tight. I pleaded with the pediatrician to see him right away. Finally I got an appointment at noon. He looked at Patrick for one second and got us right over to the nearest hospital to see the pediatric surgeon. She also just glanced at him and from there on it was a terrible tour through X rays and gadgets and test with the doctor looking more and more grim every minute. The worst part was that I couldn't reach my husband and my mom was petrified on what was going on. By 5pm he was hooked up to every gadget in the place and in an incubator in critical condition. I cried more those horrible days then ever in my whole life. The next afternoon we finally got him to the OR. They fixed the so called muconium obstruction and we prayed he start pooping. The diagnoses was CF. I told them no way, but I ! got told I was ignoring the facts and I have to deal with it. Well 5 long days of watching your child in pain and getting worse was like a nightmare I would not wish on my worst enemy. My husband and I were like zombies. We would take turns crying. By the tenth day the surgeon again went in and put in a colostomy. Still we didn't get anything out. After a few barium X rays things did start to go a little but not enough. If we fed him he eventually throw up five feeds later. We started him on TPN and gave him more fluids. The problem was that all his IV sites were starting to fail. It was so bad that finally one day there were none left. We tried all day. I even tried a few in his head with his surgeon to no avail. He was so dehydrated that putting him under would have killed him. We lucked out, because they did find a small catheter that a new anehstesiologist managed to insert just in time. They gave him something to make him drowsy. It was horrible. There is nothing sweeter than to hear your child scream telling you he was still alive! We all cried including the surgeon. It was quite clear that CF wasn't the problem. She explained to us it was a bowel motility disorder. The best pediatric surgeon was in the downtown hospital. Now we had to wait till the Christmas holidays were over to get him transferred. During that time we almost lost him several times since they did not know how to stabilize him fluid wise. On January 7 we finally transferred him to Sick Children hospital of Toronto. Patrick only weighted 7 lbs. compared to 9 lbs. when he was born. There was nothing left of him. Again we did test from urodynamics to sweat test. In the end the rectal biopsy confirmed what we had suspected. Hirschsprung's disease. He went to the OR for 4 hours and the surgeon was kind enough to tell me that there was some if not a lot of bowel left with ganglionic cells. To be exact all we had to work with was 70cm. Now we finally got some stool into the jejunostomy. But now we were getting more diarrhea. Lucky for us they did know how to stabilize him with his fluids. It took us a while, but the surgeon got the next team involved to finally teach us to do TPN at home. After eight hours of teaching and two months of practicing ,we finally took him home. But we were constantly plagued with obstructions. He had so many resections and central line infections that we spend the first two years in hospital rather then at home. What we did learn was that it would be a long road and a fight for his survival. I can only thank the surgeon enough for trying the Kimura patch and always being there if and when we needed him. The nutritionist has done his best to keep his fluids at the perfect rates, something that always amazes me. I do have my fights and I always believe that the best defense and survival for him are the parents. we have to learn as much as we can and never hesitate to ask questions. These doctors are humane and yes they to make mistakes. We are ultimately responsible what happens to our children. I see a lot of parents scared to question the doctor or to speak up, but I feel that we must if we want them to survive. I am happy to say that Patrick today weighs 20 kg . He gets half his calories by TPN and the rest he takes by mouth. He is a beautiful boy. I think that we will always need to have him on IV's , but we are trying at least to lessen the need for it. We are trying this August to increase the absorption in his bowel by growth hormones and glutamine. This is a new idea and if we succeed it will not just benefit Patrick but also many other children that have a very small amount of only small intestines left. I think overall I want to thank all the great people I have met, the support of my wonderful husband that always stand by me and the help from my family and friends. They have looked after the other four kids to give them a normal live. But most of all they are always there when we needed them. We have gone through many hard times but the generosity and love from them has kept us going. By Beatrix Vannan

My Experience with Fundoplication Surgery

On April 24, 1996 my son had a g tube placement at The Children's Hospital of Buffalo, which we no longer go to for anything. After this placement my son, Rodney began to vomit 3 to 4 ounces of his food after being fed 3 to 5 ounces through his g tube. I as any mother would called the doctor in Buffalo to see what I was doing wrong besides following their instructions. Well no one from there would help me so I told them I wanted a second opinion and we went to the Children's Hospital of Pittsburgh to see a Dr. Philip Putnam. Whom to me is the best gastroenterologist in the world. After seeing Dr. Putnam we then went over to see a Dr. Lynch in pediatric surgery. He thought the Doctors in Buffalo had me over feeding Rodney so we changed the dosage of feedings and he still continued to vomit. He was also on propulsid and zantac. So we went back and Dr. Putnam said that we needed to have a milkscan done to see what was causing him to continue vomiting. The milkscan showed Rodney to have severe GERD and delayed stomach emptying. Dr. Putnam and Dr. Lynch conferred back and forth and they both came to the conclusion that a pyloroplasty (making the opening of the pyloral muscle (muscle that controls the emptying of the stomach) larger.) and a nissen fundoplication (tightening of the top of the stomach) was in need. This was done December 5, 1996. Now these are both very serious operations that can have some very serious side affects. One of which is not being able to burp. Rodney has a mic key g tube so if he is gagging or coughing to hard and looks like he needs to belch and believe me you learn the differences I hook up his vent tube. This is a tube that goes into the Mic key so gas can be expelled. He has not vomited since. And he has gained about 12 pounds since his operation in December. He went from 19lbs to 31lbs!!! What a difference. My recommendations are if you have this done on your child are if he doesn't have a mickey to vent from ask if that is an option. I believe it would make a world of difference as to being able to let air out somewhere as to having nothing but being able to have it come out the smelly. Another thing I would request is a knowledgeable pediatric nurse being sent home with you. If you go home alone not knowing anything or just what you've seen in the hospital being done you are going to have a hard time. I know this because I went home with no nurse and waited for over a month to get one. And when I finally got one I had learned everything on my own by talking to the pediatric nurses over the phone at children's. The first couple of months are the worst not knowing what to do. But after I got the hang of everything I was fine. If anyone has any questions in particular about the fundoplication please email me back at rodjones@penn.com.
Written by Kelly Clark
 

Ask Our Parents

Hiccoughing and how it relates to retching...Does dismotility automatically lead to retching? Would taking down the Nissen help? What are the complications of a child with neurological problems having a g-tube/Nissen and what can be done about the situation? A suggested list of tests to run or solutions to try for retching problems? Asked by Julie

Does anyone have multiple HD kids or know of anyone who has multiple HD cases, e heard of lots of HD stories but haven't seen families with more than one child that has HD sometimes we feel like were the only ones with our unique situation Asked by Michael and Heidi Mara

Meet New Members Please take note of our new members and any questions they may pose to our readers. If you should like to contact a new member please email Kim Robinstein at maniac@rnet.com She will forward your email to the appropriate person and from there they are free to contact you

. I am the mother of a little girl who also has CDGS type IV. She is profoundly delayed. She started having episodes of cyclic vomiting 11 months ago. Every 6 weeks she would show symptoms of being sick, such as runny nose cough, fever. Then the vomiting would start and she would dehydrate. Recently, she had a vomiting spell with no other symptoms. After vomiting several times she started vomiting blood. After an endoscopy she was diagnosed with GERD. She is currently on 30 mg of Prevacid. She currently has been on Prevacid since the 6th of June. After being on Prevacid for 10 days she stopped eating for 3 1/2 days and became very agitated. She would take a bottle during that time and did not have a temperature. The following day we increased her to 30mg and she started eating again 2 1/2 days later. She had only been on 15 mg prior to that. What can you tell me about Prevacid use in children. Is there anything else I should know or be aware of? What about Fundoplications? Do they work? We are not at this point yet but want to be prepared. Can you have a Fundoplication without a G-tube? Can they be reversed if you want to? A concerned mother. Debbie Leary Mom To Ashley Elizabeth Type IV CDGS

We are having so many troubles with our son Evan. He is 7 months with his second fundo, g-tube problems galore and now they think he is dumping and possible 3rd hernia. I was just on the phone this morning with our GI doctor. We have an entire GI office of 5 ped/GI specialist totally baffled. Were so frustrated and it would be wonderful to talk to other parents about it. I am scared to talk to new families with a new diagnosis because Evan is so severe and he is not responding to meds and even surgeries. I don't want other parents to get scared and think they will follow our footsteps.

Joshua 1:9 Have not I commanded you be strong and of great courage, do not get discouraged or be dismayed. The Lord your God is with you where ever you go. Thanks, Michelle Cairns and Dave Cairns

Information and Resources

In our journeys through these different difficult disabilities and disorders we often need advocates for our children. One such group has recently opened a site on the web to provide advocates for disabled children. This site is located at : http://members.aol.com/standweb1 The name of this organization is STAND.

STAND is a 501 (c) 3, non-profit organization that came together in November of 1996. It was organized by a group of parents, attorneys who realized that disabled children are often misunderstood. This organization is an advocacy group for residents of the state of Florida. For further information please contact them at: STAND P.O. Box 1836 Tampa, FL 33601-1836 or call us at 813-258-5700.

Funny Things Kids Do Often times in the midst of all the trials and tribulations of being parents of special needs children we forget to enjoy the special little things they do. Not just our kids who have special needs, but also our "healthy" children as well. Now we are dedicating this section to the humorous side of life and the great things that our children do in the midst of their challenging lives. Lets take a few moments to laugh and share some of these special moments with others as a demonstration that our children are more "normal" than we sometimes think!!!!
 

Before my grandson Cody was born, I did a lot of baby-sitting for Maria (7) and John-Michael (4). I've stayed very close to the children and still keep them sometimes. The first time Maria and John-Michael saw Cody, they checked him out pretty thoroughly. John-Michael proceeded to tell Maria that Cody is one. I said, "No, Cody is 2 months old." He looked at me funny and asked, "How many is he?" I tried to explain as best I could but finally John-Michael said, "He's not any many?" By Doris

When Patrick was about one, we got a call saying to please rush him to the hospital. His blood test had come back and his Potassium levels were very low. Being new at all of this we didn't understand it, but non the less we raced to the hospital to find that they had a nurse etc. standing by just for him to monitor him. Supposedly it was so low that he was in a coma. Too bad they forgot to tell him that. They made the fatal mistake to put him in a crib that had soap dispenser at the end attached to it. While their back was turned Mister I am supposed to be in a coma, but was more interested to investigate things, decided to dispense the soap on the floor. Unfortunately the nurse that came back to check him ended up flying across the floor. It was funny to say the least. They sure underestimate those kids. By Beatrix

Article of the Month Current Problems in Surgery HIRSCHSPRUNG'S DISEASE Volume XXXIII Number 5 May 1996 ISSN 0011-3840

IN BRIEF Hirschsprung's disease is characterized by the absence of myenteric and submucosal ganglion cells in the distal alimentary tract and results in decreased motility in the affected bowel segment. The clinical outcome for affected patients has improved dramatically with the development of effective operative procedures. The first report of a patient with Hirschsprung's disease was in 1691 by Frederick Ruysch, who performed an autopsy on a 5-yearold child who died of unremitting constipation. Harald Hirschsprung's classic description of congenital megacolon was published in 1886. He described the autopsy findings of a massively dilated colon with muscular hypertrophy proximal to a more normal contracted colon in two infants who had severe constipation and abdominal distention since birth. It was not until the twentieth century that the absence of myenteric ganglion cells was first noted, and for many years the significance of this histologic finding was minimized. Instead, the absence of ganglion cells was thought to result from the proximal megacolon rather than to be responsible for the condition. Most clinicians reasoned that the intestinal dilatation in Hirschsprung's disease resulted from a neurologic imbalance between sympathetic and parasympathetic neurologic innervation of the bowel. Early treatments included surgical sympathectomy and the administration of parasympathomimetic agents. 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 pathophysiology of Hirschsprung's disease. These investigators demonstrated conclusively that the aganglionic segment fails to relax during peristalsis, acting as a functional obstruction to the passage of fecal material. In 1948 Dr. Swenson described his pioneering definitive procedure for Hirschsprung's disease, in which he removed the distal aganglionic rectosigmoid colon and performed an anastomosis between proximal ganglionic colon and the anus. The first series of patients with congenital megacolon treated by Dr. Swenson's operation was published in 1949. Since then other operations have been developed to treat patients with Hirschsprung's disease. The Duhamel procedure was devised in 1956 to minimize complications associated with the anterior rectal dissection and disruption of autonomic nerves. The endorectal pull-through operation originally described by Ravich and Sabiston was modified by Soave in 1964 for use in children with Hirschsprung's disease. Each of these procedures has undergone modifications to simplify them and improve outcome, and the vast majority of children with Hirschsprung's disease are currently treated by one of these procedures. In recent population-based studies, the incidence of Hirschsprung's disease has been shown to be approximately 1 per 6000 live births. Approximately 80% of the patients are male. No association exists between the incidence of aganglionosis and race. In approximately 8% of cases a history of Hirschsprung's disease is present in other family members. Hirschsprung's disease is known to be a genetically heterogeneous condition with autosomal-dominant, autosomal-recessive, and polygenic subtypes. Associated congenital anomalies are found in approximately 20% of patients with Hirschsprung's disease and include cardiac, central nervous system, genitourinary, and other gastrointestinal defects. Down's syndrome is also a frequent finding in patients with Hirschsprung's disease, occurring in approximately 8% of patients. The cause of congenital aganglionosis is unknown. Sophisticated molecular and embryologic techniques have been used to elucidate the embryology of the enteric nervous system. Inbred strains of mice with congenital aganglionosis have been particularly useful in this regard. These studies have established that the aganglionosis results from a failure of cells derived from the neural crest to populate the embryonic colon during development. This failure results from a fundamental defect in the microenvironment of the bowel wall that prevents growth of neuroblasts. Specific genetic defects known to be associated with Hirschsprung's disease include mutations to the endothelin-B receptor gene and the RET protooncogene. However, because of the polygenic nature of Hirschsprung's disease, there is variable penetrance of the condition in patients with these mutations. Multiple environmental and genetic factors determine the expression of Hirschsprung's disease. The mean age at diagnosis of Hirschsprung's disease is approximately 10 months, but in 5% of patients the diagnosis may not be established until after the age of 5 years. In neonates, the presenting signs for patients with Hirschsprung's disease may include abdominal distention, bilious emesis, and the failure to pass meconium within 24 hours of birth. This last finding is encountered in approximately 60% of patients. In addition, neonates with Hirschsprung's disease may have enterocolitis, which can be life-threatening. Clinical findings that suggest this diagnosis include abdominal distention and tenderness, diarrhea, fever, and hematochezia. Significant risk factors for having enterocolitis include the presence of Down's syndrome and the delay in diagnosis of aganglionis beyond the age of 1 week. Older children with Hirschsprung's disease usually have chronic constipation but may also have enterocolitis. In approximately 80% of patients with Hirschsprung's disease, a contrast enema will demonstrate proximally dilated bowel with a transition zone to contracted distal intestine. Anorectal manometry may also be used to aid in establishing the diagnosis; the diagnostic accuracy of this test is nearly 90%. The definitive diagnosis of Hirschsprung's disease is established by rectal biopsy to demonstrate the congenital absence of ganglion cells in Meissner's (submucosal) plexus or Auerbach's (myenteric) plexus. Hypertrophic nerve fibers are also usually seen in the affected region of the intestine, although this finding is not consistent enough to be diagnostically useful. Although the most definitive means of obtaining tissue for histologic examination is a full-thickness rectal biopsy, the suction rectal biopsy can be used to establish the diagnosis of Hirschsprung's disease in more than 95% of cases. Moreover, the diagnostic accuracy of a suction rectal biopsy may be increased by the addition of acetylcholinesterase staining to standard histologic evaluation. Congenital aganglionosis begins at the anus and extends proximally for a variable distance; in approximately 75% of cases ganglion cells may be found at the level of the rectum or rectosigmoid colon. The anatomic extent of aganglionosis extends into the more proximal colon in approximately 20% of cases and involves the entire colon or portions of the small intestine in 5% to 8% of patients. Once the diagnosis of Hirschsprung's disease is established, the basic principle of surgical management includes the removal of the poorly functioning aganglionic bowel and an anastomosis of a normally innervated portion of the intestine to the distal rectum. Historically, because of the increased risk of major operations on smaller children, patients with Hirschsprung's disease were initially treated with a "leveling colostomy" to divert fecal flow from the aganglionic segment. Then, when the child became larger, a definitive pullthrough procedure was performed. Recently there have been several reports of patients who have undergone an immediate corrective procedure when the diagnosis was made. Although the ultimate safety and effectiveness of this treatment strategy remains to be demonstrated, this approach is becoming more popular. In addition, to avoid placement of a preliminary colostomy, children with a new diagnosis of Hirschsprung's disease need to be placed on a rectal washout protocol to allow continued passage of stool before a definitive operative procedure is undertaken. It should be emphasized that an increased risk of enterocolitis is probably present in these patients with untreated Hirschsprung's disease.

Written by Dr. Michael Skinner An excerpt of Part 1 of 10

Final Thoughts

I recently read a touching poem and thought I would share it all with you. I know sometimes we all get discouraged when the storms of life are strong, but look up and find hope!

God hath not promised skies always blue,
Flower strewn pathways all our lives thru.
God hath not promised sun without rain joy
without sorrow peace without pain. But God hath
promised strength for the day, rest for the laborer,
light on the way. Grace for the trial, help from above,
unfailing sympathy-- undying love!!!
author unknown

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