Jeremy L. - Quilt Finished in 2008
Born: August 17, 1990
Illness: Mitochondrial Intestinal Neurogastric Encephalopathy, Pulmonary Hypertension, Protein C&S deficency
A Thank You From Jeremy's Family!
August 15, 2008
Jeremy's quilt is beautiful, and it couldn't have come at a better time!! Thank you guys for all of your hard work, it was beautifully made. And we thank you from the bottoms of our hearts.
Jeremy L.'s Story
Written by Jeremy's mom in May 2008
Well from the time Jeremy was born he had severe gastrointestinal problems. We were from a little town in Carlsbad, NM and I remember them not knowing what was wrong and how they kept trying different things over and over and still nothing was helping Jeremy. Finally our Pediatrician that we had in Glenwood Springs Colorado wanted to send us to see a Doctor at the Children's Hospital in Denver, Jeremy was 11 months old at this point. We saw the doctor at Children's and he immediately wanted to do a rectal Biopsy and scope on Jeremy. I remember him coming out and telling us that Jeremy was badly impacted with stool, so he disimpacted him and we waited for what seemed like forever on the biopsy results. The results came in and showed that Jeremy was lacking ganglion cells in his large Intestine. We thought then we knew what Jeremy's diagnosis was, Hirschsprungs Disease.
Jeremy immediately underwent surgery for a temporary colostomy. We were told about the disease and how normally there are three surgery's and usually the child can continue on with a normal life. Well they were wrong. Jeremy continued to have GI issues, not tolerating foods, issues with constipation, vomiting and you name it. Each time they would attempt the colostomy closeure, Jeremy would regress back to the way things were. After a pull through procedure for Hirschsprungs he ended up losing a lot of his colon due to a huge section of his colon dying during the surgery. We then repeated the procedure (soave pullthrough) about two years later and we still had issues of the same symptoms as mentioned above.
I was getting fed up, wondering what was going on. I was not the only one. The doctors too were getting frustrated not knowing why things were not working; why Jeremy couldn't gain weight, why he was always crying and in pain. Distended belly and so forth, after each surgery they would do biopsies and it would show ganglion cell. So there was no reason why his bowel should have been malfunctioning. We went through scope after scope, surgery after surgery and doctors frustrations for many years. We finally decided to find another group of Pediatric gastroenterologist. They were new to the area, and I figured I would have a different look on everything so we went with it, I ran into a lot of the same things, we don't understand what is going on.
By the time he was 7 years old, we had noticed more and more things: not gaining weight, more GI issues, bleeding problems, lung problems, liver problems, muscle weakness, fatigue, severe distention, paleness, abnormal labs, malabsortion, and the list goes on. They would add medications and do test after test. I was so frustrated by the time Jeremy was 8 years old I was beginning to feel like he was a guinea pig, and that the doctors were giving me names of disorders just to satisfy me.
I remember one day the doctor came out and said I think Jeremy has CIP (chronic Intestinal Pseudo Obstruction). I thought wow maybe they have an answer this time, but more and more things came up and they were increasing in severity. I suppose what really aggravates me the most is the fact that Jeremy was 8 years old and losing more and more weight. By the time he was 11 years old, he was weighing in at 55 pounds. He looked horrible, but no one around could figure out what was going on. We saw docs to do rectal testing on muscles and so forth.
When Jeremy complained of bone pain, they said kids don't know what bone pain feels like. Well, so we would move on to another specialist. After seeing the doctor for Jeremy's rectal testing, we then had proof to say that Jeremy has no muscle tone in his large colon or rectum. We then consented to a total colectomy and had his permanent Illeostomy placed. It wasn't until Jeremy had gone through well over 75 surgeries that they sent us to Pittsburgh to see about small bowel transplant. It was there that they said that we needed to be evaluated for a Mitochondrial Disorder, I was like huh? Very confused at this point.
So we came back to Denver and talked to the GI group about that. And they said that it is very rare, but it could be.. A few months went by and still nothing being brought up about the testing. Jeremy was still in and out of the hospital with infections, bleeding issues and you name it. It was then one of the Doctors that had joined the GI group looked at Jeremy and said "I will bet you a million bucks this kid has a Mitochondrial Disorder." And I said, "What makes you say that?" and he began to tell me the symptoms. It was then that he asked me if I would consent to biopsies and testing. I said yes, I told him it would be nice to finally know what exactly our son had.
Jeremy was 12 by the time the testing began and his muscle biopsy was done. The testing all started in May of 2003 and I remember that being the longest month and a half of my life. It was the end of June 2003 that Jeremy was finally given a diagnosis for all of his multi symptoms, the diagnosis was Mitochondrial Intestinal Neurogastric Encephalopathy. As of Feb 2008, Jeremy received a trach, and is now vented at night.
