The birth of a child is a miracle. I feel very blessed with the birth of Seth. He is a miracle!
Seth was born on October 10, 1990. Seth was born prematurely, by emergency c-section, at 32 and ½ weeks gestation and with an abdominal wall defect, called gastroschisis with midgut volvulus. Close to 40% of patients affected are premature infants. Gastroschisis, a rare congenital anomaly, is an evisceration of part pf the abdominal contents through an anterior abdominal wall defect found to the right of the umbilicus. The umbilical cord has normal insertion, and there is no sac covering the herniated abdominal contents. It is, therefore, not an anomaly of the umbilical cord but results from formation of one of the lateral plates of somatopleure. The protruding gut is foreshortened, matted, thickened and covered with a peel. Rarely, the orifice may be extremely narrow leading to gangrene or complete midgut atresia. Although, gastroschisis is frequently fatal in utero, it can be repaired. Management for gastroschisis remains controversial as alternatives depend upon the type of closure for the abdominal wall defect and the severity of the affected bowel. Success of failure is related to the length of remaining bowel more that the specific method used. To put into other terms, Seth was born with his intestines on the outside of his body. His exposed intestines were gangrenous. Seth lost the majority of his small intestine. He lost all of his ileum, his ileocecal valve, most of his jejunum and his ascending colon. Seth underwent his first surgery on October 10, 1990, with subsequent surgeries thereafter. Since Seth lost a gross amount of small bowel he is now considered a Short Gut. This is a condition referred to as Short Gut Syndrome or Short Bowel Syndrome or SBS for all later references. SBS is a collection of signs and symptoms used to describe the nutritional and metabolic consequences following major resections of the small intestine. These patients also have a marked reduction of the small bowel absorptive surface area. It is characterized by diarrhea, fluid and electrolyte abnormalities, and malabsorption and weight loss. SBS occurs in children, whose amount of functional intestine is inadequate to digest and absorb the nutrients secondary to reduced absorptive surface area, dysmotility problems and bacterial overgrowth, leading to the necessity of total of supplemental TPN (Total Parental Nutrition or Hyperal) for adequate growth and development. SBS is generally defined as to having less than 150cm of small bowel remaining. Most problems occur is less than 90-100 cm is left. Loss of the distal small bowel is more serious than loss of the proximal small bowel. When Seth underwent his last surgery he had 25cm of small bowel and did not have any distal small bowel remaining.
I was able to hold Seth shortly after his birth. I remember hearing a crying baby being placed into my arms. I can still see his tiny body and sweet face looking into my eyes and the sounds of his cries fading. He looked at me as to say, “I’ll be alright Mom.” He was so small I thought. How will he be able to make it? Seth was born at 4 pounds and 4 ounces and was 16 inches long. He was almost 2 months premature. I feared for the worst. Groggy and in pain, I could barely comprehend what the nurses were telling me. Instead of the look of joy on their faces, I was met with somber looks. I was able to hold Seth for a few minutes before he was transferred to another hospital, where he would have his surgery. I left the recovery area and was transferred back to my room. I was given little hope for survival of Seth. I was told that his chances for pulling through surgery were slim and if he did pull through, he was given little hope for the next 24 hours. Several thoughts ran through my mind. I knew I had just given birth to a premature infant who had a birth defect. I knew his odds for survival were not very optimistic. How did this happen, I thought. What did I do or not do that caused this birth defect. Guilt consumed me. My baby had been transferred to another hospital and my contact with him was through talking with nurses and seeing pictures of him. Although, I did work in a hospital and had seen several babies hooked up to monitors, wires, tubes and machines, I thought I was prepared to see my own son that way. Once I saw his pictures, I knew I was not prepared to see him like this. It was extremely difficult seeing my own baby like this. I wished that I could take all of that pain away from him. Seth stayed in the hospital for the next 69 days. He was in the ICU for a few days and then transferred to the Special care unit. I was released from the hospital 4 days after his birth and made the 4 mile roundtrip to see him everyday. Most days, I made the trip twice. In a six week period, Seth had 3 surgeries.
Seth had genetic testing done to determine if his birth defect was genetic. When the results came back, it was determined that this was not a genetic defect. To understand how this defect can happen, one must understand the many changes that take place from the time of conception to the time of birth. For a sperm and egg to fertilize, for mitosis to take place and for the development of the fetus to a full term infant within a 40 week gestation, one must realize the miracle that birth truly is. The digestive system develops from a rudimentary stage too a stage that rotates and encompasses within the abdominal cavity, is a process that happens mainly within the first tens weeks of gestation. The midgut is developing in its extracoelomic position. I believe that this is approximately 14 to 16 days. It is supplied b the superior mesenteric artery (SMA) and divided into an upper limb (duodenjejunal loop) and a lower limb (cecocolic loop). Around the tenth week of embryonic life, a 270 degree counterclockwise rotation takes place around the SMA. The duodenum is pushed to the left of the SMA as the small intestine is withdrawn first. The cecum and right colon return to the left side of the abdominal cavity and pass anterior and above the SMA. This is the stage of descent of the cecum into the right lower quadrant and the stage of fixation and fusion of the mesentery from the ligament of Treitz and downward to the right lower quadrant. To place this into perspective for Seth’s situation, Seth developed as an embryo and the intestinal system started its development on the outside of the body. Seth’s intestines failed to rotate and migrate to the inside of his abdominal cavity. Unfortunately, his abdominal wall formed completely. The closure of his abdominal wall cut the blood supply to the mesenteric artery and resulted in gangrene of the exposed intestine. The exposed and gangrenous intestine was lost due to this. Due to the loss of intestine through gangrene and major resection, Seth became a SBS infant.
Since Seth was now a SBS infant, this meant that he did not have enough intestines to absorb his nutrient through oral feedings. He had to receive his nutrition in some other manner. Seth received his “food” by TPN. TPN is administered via a central line. A central line or catheter, is a thin, flexible tubing that is inserted into the chest wall (usually) and into a major vein. TPN is a nutritionally balanced IV solution that contains amino acids, vitamins, minerals and trace elements. Prior to Seth’s discharge form the hospital. I had to learn several procedures so that Seth could benefit from a stable life in a home setting. The weekend before Seth was discharged, I had to stay in the hospital with him and provide his total care. I had to demonstrate that I could care for, prepare the necessary solution and perform the necessary procedures that are required to care for a person on TPN. I had to demonstrate knowledge and understanding of all procedures and to be aware of potential complication involved in the administration of TPN. I had to demonstrate sterile technique in the daily preparation of TPN and sterile technique in the process of introducing the TPN into the central line. I had to demonstrate that I could perform a dressing charge for the area of the central line placement. I had to perform daily blood glucose testing. I also had to be trained in CPR and be aware of any potential life threatening complications that could arise.
The use of TPN in the home environment was first attempted in 1967. Receiving TPN on the home environment is about half the cost of receiving the same treatment within a hospital setting. The annual charges for receiving TPN can exceed $100,000.00. There are also complications in the long term use of TPN. These can include catheter infections; catheter fracture; catheter retraction from the venous system; catheter related thrombosis (clot); air embolism; mechanical complications involving the equipment used to administer the TPN; and several metabolic complications. The metabolic complications can involve hypoglycemia (low blood sugar); hyperglycemia (high blood sugar) ; bone disease; liver and gallbladder disease; renal disease; hypersensitive to the TPN solution; hypokalemia (low serum potassium); micronutrient deficiencies; essential fatty acid deficiency; and fluid, electrolyte and mineral imbalance. Although TPN can give the patient who would have not survived a chance to sustain life, it is not without potential and lethal complications. Since TPN can be damaging to the liver, many physicians try to cycle the TPN. Cycling is where the patient gradually over time decreases the need for TPN infusion. To successfully decrease the infusions, the patient must be able to tolerate oral or enteral feedings. Patients with SBS have the expectation that the bowel adapts and that intestinal absorptive capacity will increase as the length of the residual bowel increases. This can be a long process that is directly dependent on increasing the body length of the patient. The slow pace that this adaptation takes place increases the complexity and the cost. Unfortunately, it is not always possible to predict which patients will eventually be free of TPN support through this adaptation process or when that adaptation will occur. When Seth was first born he received TPN for 24 hours a day. On his release from the hospital on December 17,1990, he received TPN for 19 hours per day.
On August 10, 1993, Seth underwent a bowel lengthening procedure. The bowel lengthening procedure was first described by Bianchi in 1980 on a pig model. The first reported bowel lengthening procedure in a human was done in 1981, in a patent that had gastroschisis. The procedure used by Bianchi takes advantage of the anatomical features of the mesenteric blood supply to the bowel. The blood vessels within the mesentery bifurcate outside the small intestinal wall. Each branch supplies blood to half of the bowel circumference. The blood vessel pattern permits the bowel to be divided safely along a longitudinal axis into tow tunes, each representing half of the circumference of the original bowel. To facilitate successful lengthening of the bowel, dilation of the residual bowel should occur prior to this procedure. Seth had an upper GI series test performed that showed he had a markedly dilated small bowel. According to articles even published today, survivors of bowel lengthening have been patients with greater than 40 cm of small bowel. The mortality rate for infants with 15 to 40 cm of small bowel with the absence of the ileocecal valve was high. Seth had 25 cm of small bowel and did not have his ileocecal valve. I had to give Seth a chance to be free of TPN support. He had already surpassed many predictions already. The bowel lengthening gave Seth 50 cm (approximately 20 inches) of small bowel.
On February 11, 1994, Seth infused his last bag of TPN. He had also gained 12 pounds and grew 5 inches. His energy level increased by more than 100%. Since Seth has only 50 cm of small bowel, it is expected that Seth will demonstrate some problems in life. Seth does not have an ileum. Although the bowel adapts and other section of the small intestine can take over some roles, the ileum is the only place in the small intestine where vitamin B-12 can be absorbed, as the proximal bowel cannot compensate for this. When more than 60cm of ileum has been resected or lost, monthly injections of vitamin B-12 are eventually required. The resection of the ileum is characterized by bile acid and vitamin B-12 malabsorption and increased gastrin secretion. Lose of the ileocecal valve can lead to stagnant loop syndrome. Most water soluble vitamins are absorbed in the proximal jejunum. Fat malabsorption occurs due to the bile salts being malabsorbed and the bile salt pool in the proximal small bowel becomes depleted. Bile salts are required for the micellular stabilization of fat soluble vitamins and the dietary fat. The fat soluble vitamins are A, D, E and K. Fat malabsorption is characterized by steatorrhea. Steatorrhea is a diarrhea with excess fat in the stool that bulky, loose, greasy, malodorous, and pale and tends to float. Calcium malabsorption can occur also due to poor fat malabsorption. Hypoalbuminemia can occur in SBS especially if there is a stagnant loop within the intestine. With any diarrhea, electrolyte imbalance can occurs as may a fluid imbalance. Anemia can also occur from SBS. Iron deficiency anemia, is the most common anemia to be seen with the general population. It can occur in SBS due to poor absorption of iron form the body. Pernicious or macrocytic anemia can occur due to the inability to absorb vitamin B-12. A higher caloric intake is required die to the body’s inability to absorb all of the nutrients taken in orally. One must always be aware of the potential complication and adjust accordingly.
Seth’s birth has provided me with a greater sense of knowledge, understanding, compassion and patience. I have also had opportunities to speak at medical conferences. I spoke at the Oley Foundation Annual Conference in 1994. I described Seth’s bowel lengthening procedure and have a video available through the Oley Foundation, located in Albany, New York. I am also a Regional Coordinator for the Oley Foundation.
To predict if Seth will require further surgery is beyond the realm of knowledge. Seth will require a greater caloric intake and life long vitamin B-12 and iron supplementation. He will also eventually require supplementation of vitamins A, D, and E. He will also require Love. Seth has surpassed the many predictions given at the time of his birth. For a premature infant dependent upon TPN, to a young child now independent of TPN, one must realize the great amount of love, care, and sacrifice given to him. From the time of conception to the birth of an infant, one must realize that this is truly a miracle and the infant is a gift from God. Our children hold their futures at their hands. We must guide and direct them to make the choices that will affect their futures.
Without the help and support of several people, I would not have been able to write this story with the outcome that it has. From the medical personnel at the hospital where Seth was born, to the medical personnel where Seth stayed for his first 2 months of life, all deserve a huge “Thank You”. I was lucky to have the surgeon that performed most of Seth’s surgeries. He is a wonderful man that listened and even took some of suggestions to heart. I would have never been able to see Seth’s pictures without the help of my parents. My father flew in from New York to Memphis the day Seth was born. Several arrangements and sacrifices were made on their part to make that happen. The local support group here in Memphis that I later got involved in. Many thank s to my employer for being understanding and helping me when I needed it most. To the many friends and co-workers that brought smiles to my face when I was felling down and the several times they came to my rescue. To the many agencies in this area that helped me when times were rough. Without becoming too specific, there were several times that humbled me, and the warmth, generosity, and kindness of family, friends, neighbors and strangers made me realize that I was not alone. I would also like to thank “Clarence”. A smile was brought to my face and tears to my eyes because of your kindness, generosity and compassion. A thank you is never enough, but sometimes that is all that we can say.
I wrote this story in the year 2000. I have made a few changes from the original story that originally appeared on the internet. I will update Seth’s story from the time that this story was written at a later date.
Definitions of some of the medical terms I used:
Dysmotility ; When the muscles of the gastrointestinal tract (esophagus, stomach, small and large intestines) do not work normally (hence the term dysmotility).
Volvulus: Abnormal twisting of the intestine which can impair the blood flow to the intestine. Volvulus can lead to gangrene and death of that segment of the gastrointestinal tract. Malrotation of the bowel during fetal development can predispose to a volvulus
Gastroschisis: an uncommon but life-threatening birth defect in which babies are born with their intestines outside their abdomens. A birth defect in which there is a separation in the abdominal wall. Through this opening protrudes part of the intestines which are not covered by peritoneum (the membrane that normally lines the inside of the abdomen). The opening in the abdominal wall in gastroschisis is never at the site of the umbilicus (the navel or belly button). Rather, the umbilicus is characteristically to the left of the gastroschisis and is separated from it by a bridge of skin. Gastroschisis is due to a herniation (rupture) at the base of the umbilical cord that allows variable amounts of intestine to herniate out (pouch out) into the amniotic fluid. This event can take place antenatally (before birth) or perinatally (around the time of birth). Gastroschisis occurs in about 1 in 11,000 babies
Hypoalbuminemia; a condition marked by abnormally low amounts of the body's main serum-binding protein, albumin. Insufficient albumin can lead to edema and platelet malfunction.
Hypokalemia: Low blood potassium. The proper level of potassium is essential for normal cell function. An abnormal decrease (or increase) of potassium can profoundly affect the nervous system and heart, and when extreme, can be fatal.
Hyperkalemia: Elevated blood potassium
Small Intestine: Organ where most digestion occurs. It measures about 20 feet and includes the duodenum (closest to the stomach), jejunum, and ileum (closest to the large intestine). A full term (40 week) infant has approximately 9 feet of small intestine.