My daughter, Olivia Blinn, was diagnosed two days prior to her second birthday with Idiopathic Myopathic Pseudo-Obstruction, a condition in which the smooth muscles in the intestine do not work properly. Prior to her being diagnosed, Olivia seemed like a typical baby, except that she gurgled, spit up and nursed almost nonstop throughout the night and day. When she was put into a vertical position for burping, everything would come back up. She was like a full pitcher that could hold no more.
At eight or nine months, Olivia really began to present the first symptoms of her disorder by having back-to-back urinary tract infections (UTIs), a common secondary symptom in Pseudo-Obstruction. It was at this same time that she learned to eat, and with the UTIs came severe constipation. We saw a local GI doctor, had tests run on her urinary tract and bowel, and had an MRI. We were sent on our way with a diagnosis of "floppy bladder and dilated colon," and told to start enemas and other aids for constipation. This began a long year of daily multiple enemas that really provided no aid for her problems.
Olivia was not only constipated, but she truly was a professional puker! She could vomit so gracefully (and still does from time to time) and go right back to playing.
She began to experience such severe and concerning distention that we saw our local pediatrician, who stated, "That is impressive, and I think it is time to get some more films." So off to our local pediatric hospital for what ended up being a five-night stay of IV pokes, late night testing, and tearful and fearful times. I remember how I would just hold her at night, rocking her, as they were trying to "clean her out." This hospital was not a family-centered hospital where parents hop up in bed and sleep and cuddle their children. They put the children in cribs that looked very much like small cages.
This was by far one of the scariest times, because we were so new to the medical lifestyle. We had no idea about patient rights or advocating for our daughter. We did the best we could to be with our daughter as much as they would allow. At one point, after having just come out of sedation, she was placed right back into another test, and we were told that we could not go with her. She was not even two years old! We stood outside listening to her cries.
Thankfully, at the end of the week we saw the local GI doctor at the hospital. He told us that there were not definite answers, but he knew of doctors who could help. For this, we are most grateful, that this doctor was willing to recognize his limitations and send us to a more specialized GI motility doctor. He gave us several options to choose from, and we chose the hospital of my birthplace and hometown, which is considered to be one of the best.
Olivia was seen about six weeks after discharge from the local hospital. During those six weeks I did what most mothers of children would do: I hit the internet hard. Researching over and over, digging as deeply as I could stand, I found horror stories of children who were so distended that their intestines basically "popped" from having been so stretched. I prayed that God would show us the way, and help us to understand what was causing Olivia such misery.
All blaming fingers pointed at Pseudo-Obstruction. What in the world is PSEUDO-Obstruction? As for symptoms, Olivia was the poster child, with gross abdominal distention, chronic vomiting, and malnutrition the top culprits. Pseudo-Obstruction presents as if there was a mechanical obstruction blocking the passage of food or stool through the intestines, which can cause vomiting, constipation, pain, distension, and malnutrition. There is not, however, any physical obstruction. Instead, either the smooth muscles or the nerves within the intestines do not work properly. The intestines may contract irregularly due to improper regulation by the nerves, or contractions may be weak or absent because the smooth muscles do not function appropriately. Most children are born with the disorder, but it can develop as a secondary symptom to another condition, such as mitochondrial disease. Symptoms are severe and require intensive nutritional interventions, such as feeding tubes, intravenous lines, and ostomies. The same process also often affects the bladder.
After the six-week wait we finally met with Olivia's now beloved diagnosing doctor. We sat and shared our story, and he asked, "Have you ever heard of Pseudo-Obstruction?" Gulp. Yes. He needed to run the official tests, including manometry testing, but he assured us she would be all right. We stopped the enemas and begin heavy duty Miralax, a common laxative.
Pseudo-Obstruction may be suggested by tests such as X-rays, which may show dilated loops of bowel, or barium swallows and enemas, which may show poor motility. But the gold standard for diagnosis is manometry testing. This type of testing measures the pressure and contractions within the gut, and can detect whether contractions are irregular, weak or absent. Similar testing, called urodynamics, can also be used for the bladder.
Just before her second birthday, Olivia went back for a clean out and manometry testing. After the testing we were brought to that little room, the room where parents go after surgery or testing with the ubiquitous dry eraser board. The drawing showed us that our little girl would need a G tube to vent her stomach to prevent vomiting, a J tube directly into her small intestine in hopes of feeding her formula, and an ileostomy for stool so they could take out her colon, which was not functioning at that point. It stung and hurt, but we still had urology testing to get through the next day, so we went into numb mode and pressed on. The following day we met with the urologist after his test and immediately began cathing Olivia every four hours.
Treatment for Pseudo-Obstruction is difficult and complicated. Most children will require some type of nutritional support. Some may be able to feed through a G tube into the stomach, but most will require a second tube, a J tube, directly into the intestines for feeding. These tubes can also be used to vent air and gastric secretions that accumulate. Some children may not be able to tolerate enough feeds, and may require a central line for IV nutrition and fluids. If the large intestine does not function well, many children will have all or part of it removed. These children will receive an ostomy, usually an ileostomy or colostomy, to remove stool from the body into an attached pouch.
Other treatments include pain management, nutritional management, and urological procedures, including cathing or a surgically created cathing stoma. In some cases, intestinal transplant may be required eventually. A new treatment, using a gastric pacemaker to trigger and regulate contractions within the intestines, is showing promise for some children.
There was a lot to digest, and Olivia's birthday was in two days. We opted to stay inpatient because at this point we were almost afraid of Olivia's medical problems, afraid that we would or could hurt her. My parents brought her brother up for one of the most memorable birthday parties ever. In the courtyard that April 20th, we all put on brave faces and blew bubbles and ate popsicles. I cannot remember if that was the last day she was tube and IV free. But in two days she was taken into surgery for her life-giving "Tubies" as they were called back then, and her ileostomy pouch, which was called "Strawberry," for the appearance of the stoma of her ileostomy.
TPN (IV nutrition) was started in hopes of getting her off of it. Eight years later, Olivia is still completely TPN dependent, unable to tolerate J feeds but eating ad lib, which is a blessing.
For me as mother, I have found this detour in life to be three fold. The first stage occurs when you respond and realize there is something "wrong," which unfolds into the search for a diagnosis. Then there is the accepting and celebrating stage after the diagnosis is in place. Finally, there is the "living with it" stage. We are by far in the living with it stage.
Our celebrating and accepting stage began the very minute we saw the mound of blankets piled upon our little girl after surgery. Admittedly, I was afraid of her needs. My husband and I slept with her in PICU, learned to cath her, and celebrated her Tubies and Pouch. We began the long dark road to recovery for Olivia.
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