GABRIEL'S PERSONAL STORY

February 15, 2016 Hirschsprung's Disease, Pediatric FGIMDs
Country : Colombia 

My nephew, Gabriel, who is now 6 years old, was diagnosed with Hirschprung’s disease  when he was born. Only three days after he was born doctors had to perform an emergency descending colostomy because of the magnitude of his obstruction. Everything went wrong from there. We live in Colombia, South America, and doctors have proven to have little knowledge about this illness. My sister is a user of our public health system, which narrows the possibility to access quality and specialized health care for Gabriel.
 
The biopsy results from a sample obtained at the “colostomy mouths” right after the surgery in 2005, showed “normal innervations”. However, in 2006, a colorectal biopsy showed the absence of nerve cells (aganglioniosis) near the endorectal area. In 2007, the results from another study show absence of nerve cells in portions of the bowel near the “union of the glandular and squamous epithelium” and the anus. In 2008, a second review of those results contradicts them, saying the area studied is “normally aganglionic”.
 
In January 2008 Gabriel had a pull through (reconnection) surgery with 10 centimeters of his bowel removed. The results from the study of the part removed showed “presence of nerve cells in all of the section”. However, it also stated that some of the sections show “changes in the sub mucous plexus that fill the criteria proposed by Meier Ruge for Neuronal Intestinal Dysplasia”. Only one month after his pull through surgery, Gabriel had painful and chronicle constipation episodes for the next six months, spending most of his time at the ER getting painful enemas, which led the doctors to perform back a colostomy and “continue to study his case”.
 
Imagine our frustration and my sister’s suffering with all of this. It has been a long journey where the medical prognostics have been misleading and confusing. Due to the lack of a good health care service, Gabriel has seen many doctors and been attended in many public hospitals of the city, all giving him no hope for recovery and advising him to adjust to the colostomy for the rest of his life. My sister has presented many legal actions to demand a better service, the provision of colostomy bags, appliances, vitamin supplements, etc., which are very expensive and unaffordable for her otherwise.
Gabriel is a brave, smart and vivacious child, who has understood very quickly the ups and downs of his medical condition. The toughest part for him and for us as well is probably the side things that have come with it, such as the rejection from kids at school (and even from schools who are afraid to receive him), the poor growth (apparently he has the size of a 4 year old) and the intolerance to many meals that cause him severe diarrhea and "accidents" with the colostomy.
 
In addition to all of this, he has develop a new illness, which no one has been able to diagnose. He feels terrible crumbles near the anal area and expels some fetid liquids. Sometimes he is not even able to move from bed for a period of one or two days. Doctors say this could be the waste from the Colon that need to come out or something like that, but they are unable to ease his pain and cure this simptoms. We wonder how if he has a colostomy, the anus can expel anything. Another doctor told us this could be a sign of Colon cancer. Imagine that.
 
My sister is a great woman, whose husband left the house. However she has managed to do every possible human effort to keep Gabriel alive and emotionally healthy. I of course, being a single and having more education and a job, try to support my family shoulder to shoulder (for example, using my knowledge of the English language to do this), but it isn’t an easy fight.
 
I truly hope we could get some advice from doctors or share experiences with people who is going through the same we are. We are even interested in getting information about clinical trials in the U.S. or anywhere else. Should the Foundation or someone else needs additional medical information, we are willing to provide it.
 
Thank you very much and God bless the vital job you do.

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