What is Hirschsprung's Disease ?
The simplest definition is that Hirschsprungs is the lack of Ganglion cells in the bowel. This results in the stool being unable to pass through the bowel to the rectum.
Ganglion cells allow the bowel to relax so that the stool can pass through the bowel. If the bowel cannot relax then the stool or bowel motion cannot pass down the bowel and the bowel becomes distended and blocked.The result is that the baby cannot go to the toilet. Without the Ganglion Cells the bowel cannot relax and push the stool down the bowel.The pushing of the stool through the bowel happens in stages,like a wave washing debris onto a beach.As the stool tries to pass down the bowel, where it reaches the bad part of bowel there is a build up of stool making the bowel stretch.
The most common sign of Hirschsprung’s is that a baby does not pass meconium (the substance lining the baby's intestines during pregnancy) within the usual 24 to 48 hours.Other signs are:Vomiting, Tiredness, Explosive or Difficult Bowel Movements, Jaundice, Swollen Tummy, Poor Feeding,and Poor Weight Gain.
Hirschsprung’s is a very serious and left-threatening disease and must have immediate medical attention right away.The only effective treatment is to have a surgical procedure called Cololectomy or Ileocolectomy-where the diseased portion of bowel is removed and where the healthy bowel is pulled through a hole in the outer abdominal wall, where the suregons will create a stoma. This will allow the healthy bowel to rest in hopes of a second procedure known as the "Pullthrough Operation" (performed as either a one stage or two stage operation). The diseased portion of the bowel must be removed as it will never function properly.In the operation,the diseased bowel is removed and the healthy bowel is pulled down and attached to the anus,in most cases.Once the child starts to pass motions this is normally the first step to recovery.This rate of recovery varies from one child to another.Usually the child will want to pass motions a lot more frequently than a "normal" child, this is normal for this time.The motions may be watery and very acidic.This will lead to one of the most common problems where the bottom gets very sore.There are numerous barrier creams to help this. Sometimes the child has a problem controlling the passing of motion but again this will improve in time but can be very distressing for both the parents and the child,especially in the older child.
Hirschsprung's when diagnosed can be in a variety of forms,from mild to severe.In the severe of cases.Children have too become TPN Dependent (Total Parenteral Nutrition) which is cycled intravenously,because of the risk of dehydration and lack of weight gain due to the high losses of stomal output from their ostomies ,children are put on a very restricted diet and for some eating is not an option at all, as to not cause any damage already to the weaken intestinal tract. Infants when diagnosed if they can tolerate it will be put on a elemental formula, which is unlike any baby formulas.These medical formulas are pre-digested and easier for infants to digest with an already impaired gastrointestinal tract,which in most cases is also cycled by a feeding pump, which is tethered to a Gtube, another surgical prodecure for placement which is a called a gastrostomy for the tube is placed in a small hole thru the stomach and then the tube is inflated with water to keep the tube in place. This will allow slow drip feeds until the gut overtime has had enough chance to heal, where if tolerated, full feeds will be allowed.The GTube is also used for medications directly into the stomach, so that oral stimulation will not be hindered by the bad taste of some of these formulas and medications
,as these children will be encouraged to eat by mouth. Parents will be followed closely with a home infusion and durable medical company to supply all of the child's medical supplies.
Children with this severe form of the disease are at greater risk of central line infections,very low immunity to germs and the lack of a normal quality of life.Parents will have to learn all aspects of medical care: such as Ostomy care,GTube Care and Central Line Care in order for the child to survive without living life in a hospital. Pull-thru for these children is not recommended, with the only form of treatment will need to be an Intestinal Transplantation. Because nutrition and electrolyte balances are at the most importance- these children are monitored weekly by having labs drawn from their central lines and dressing changes to prevent infections. Children with this severe form of Hirschsprung's will also have lengthy and multiple admissions and surgeries, they are also at a high risk of possible liver failure/damage due to the dependance of TPN and loss of IV Access. Which is why transplantation will be highly recommended.
Another risk for children diagnosed with Total Colonic Hirschsprung's is Over-Growth of Bacteria that can cause even more damage if not treated properly. These children will be required to take GI Medications such as: Neomycin and Flagyl to combat the bacterial bugs that can cause havoc.
The team of Doctors with patients such as these will include: Pediatrician who understands Hirschsprung's, Pediatric Surgery Team, Nutritionist,Pharmacist,Pediatric Transplant Surgeon's, Radiologist, Gastroenetrologist.
Enterocolitis is the most serious complication associated with Hirschsprung’s.The symptoms can at times be vague but are usually abdominal distension, fever and foul smelling stools. Enterocolitis must be diagnosed and treated quickly to prevent very serious complications.If caught early then this can be treated with antibiotics and re-hydration.The chances of enterocolitis reduce as the child gets older but can occur both post and pre-operative.
The good news is that 80% or more Hirschsprung’s children go on to have full control of their bowels and lead a very satisfying life.A small percentage of children do continue to have problems and a second or third pullthrough may be necessary. Hirschsprung’s is a genetic disease.In a number of cases this faulty gene is hereditary but in the most common form of Hirschsprung’s there seems to be no family history.But there is an increased chance of the child also having Hirschsprung’s children and that the parents may have more Hirschsprung’s children.
Why do we not know more of Hirschsprung’s?
As we have seen,Hirschsprung’s is still a disease that children can die from.So why is it not taken seriously by people?Well let’s face it what happens when we talk about going to the toilet, people giggle, look disgusted or just pretend not to hear.A lot of people don’t want to know about such ‘dirty’ things as bowels and poo. Worldwide,1 in every 5,000 children have Hirschsprung’s (eg. in Victoria, Australia it is about 10-12 a year).It is 4 times more rare in girls than in boys. To date there is no known cure for Hirschsprung's- studies are being performed at John Hopkins University.
For more information,please checkout the below website-the Hirschsprung Support Network has been a wonderful GOD-send in our journey so far and It will for you and your family as well. Our support group is there to aid newly diagnosed children and their parents to share stories, calm fears and to remain vigilant advocates in your child's health needs. We are their to encourage,strengthen, lend support and knowledge to your family in need,but most important reassure you that YOU are NOT alone.
To order a parental book about having a child born with Hirschsprung's Disease.Simply click on the link above.Its a well thought out perspective written by a Mother. Thank You Nicole!!!!!
We offer support and information to adults & parents of children with Hirschsprungs & other bowel motility diseases.
Our website is www.hirschsprungs.info and we offer email support when you become a full member by filling in our application form at http://www.hirschsprungs.info/membership.html