When we found out last month that Violet had a volvulus (aka loop/knot/blockage in her intestines) caused by an intestinal malrotation (aka birth defect) one of the first things that popped into my mind was “How was this missed?!” She had been diagnosed at 17 months old with cyclic vomiting syndrome. CVS is a diagnoses of exclusion, meaning there is no test for it, they diagnose you with it after they rule everything else out. One of the things they have to rule out is an intestinal malrotation.
I’ve spent the last month gathering medical records and talking to specialists. Most people think I need to move on, but those people didn’t watch their baby vomit for days on end until she was too weak to move, they didn’t pick their toddlers lifeless blue body up off the hospital floor, and they didn’t specifically ASK their doctor if their child could have this condition and have the doctor insist there was no way.
She suffered for almost three years. THREE. I will move on, but not until I put this puzzle together.
The failure to diagnose her seems to fall into four segments 1) The first GI doctor. 2) The GI series and ultrasound. 3) Her first hospital admission. 4) The GI doctor that we stuck with.
I’ve tried to summarize and cut unnecessary details, but I know this is still super long. Bless anyone who actually reads the whole thing.
Here’s how I remembered it (without the medical records):
The First GI Doctor-
Violet began throwing up at just hours old, and had bilious vomit at about 4 days old. We tried everything the pediatrician suggested, at around 14 months old we were referred to a GI. There was a long wait list for an appointment, and at 16 months we finally got in. His English was not great, and what I gathered from the appointment at the time was that it could be “something anatomical,” cyclic vomiting syndrome, or a metabolic disorder. We were referred to a hospital for an ultrasound and GI series to rule out “something anatomical.”
The GI Series and Ultrasound-
The ultrasound didn’t seem to go very well to me. Violet cried, squirmed, and didn’t want to lay on the table. The technician eventually told me she got everything she needed. We then went next door for the GI series. Violet did not want to drink the barium, but I had a very strong gut feeling that this test was going to reveal something, so I was insistent. After finally getting her to down it, they put her on the table, and less than a minute later the doctor said he had everything he needed (aka that time a doctor didn’t ask me out). I was told that both tests turned out fine. I remember being surprised, I had really felt it was “something anatomical.”
The First Hospital Admission-
A few days later Violet began vomiting again. After 8 days she was admitted to the PICU. I came up with a list of things I thought might be wrong based on comments/emails/ideas from this blog and Facebook. FPIES. Brain anomalies. There were 5 or 6 things on the list. But there was one comment from a mom that stuck with me more than any other comment for two reasons 1) It sounded EXACTLY like Violet. 2) Her precious little boy had died. Here is a bit of a longer message that she sent at the time:
“I knew from the time my son was about 8 weeks old that something was wrong. And every time I asked our pediatrician about it I was dismissed as a “first time mom”…babies cry, he has colic, babies spit up, etc. etc. I remember distinctly coming home from his 4 month visit where the doctor had told me he had colic and crying on the way home…and my husband telling me “he’s fine, stop it. The dr. said he is fine.”
Well he wasn’t fine.
I truly believe your mommy gut knows when something is wrong. Fight until you get a doctor that listens. Fight. You know your baby better than anyone else. I would request that an upper GI be done and have a consult with a pediatric GI specialist.
My son would throw up just like this. When he was a baby he would throw up after every feeding (soak a receiving blanket). He died at 27 months of a volvulus of the cecum.
24 hours before his death he began running a fever, he vomited just a couple of times…we took him to the pediatrician 15 hours after the fever began and he was diagnosed as having a “virus”. They palpated his abdomen. I (paramedic by trade) palpated his abdomen multiple times and he never had pain.
Just hours after we left the pediatrician’s office he coded and died in the ER.”
When I read that message, I cried. My heart broke for her. And the symptoms were so spot on that I was sure this was what Violet had.
I felt relieved that we were already in the hospital seeing a pediatric GI specialist. The next time she came to see Violet I asked her if a volvulus could be the problem. But she was insistent that wasn’t it. The main reason being that Violet had already been cleared by an upper GI series two weeks prior. She also said Violet didn’t have the right symptoms. I remember asking if we should repeat the GI series and ultrasound at that moment, thinking maybe while she was sick we might see different things. The doctor felt it was unnecessary (she kind of laughed me off on this one).
Now I know reading this you’re probably wondering why we kept seeing this doctor when she wrote me off like that, but she didn’t write off all my requests. She listened to my concerns and agreed that we should do an endoscopy to rule out FPIES and a 24 hour MRI to rule out a few things other people had suggested. She felt competent to me. She felt thorough. When she said it couldn’t be a volvulus I believed her. After the endoscopy and brain scans came back “normal” she seemed so confident in her cyclic vomiting syndrome diagnosis. The original GI we saw had said “something anatomical,” CVS, or a metabolic problem. So it felt like the two doctors were in agreement with each other. If it wasn’t anatomical or metabolical, it must be CVS.
After She Was Discharged-
We continued to see this gastroenterologist after Violet was discharged. Sometimes it felt very much like Violet had CVS, and sometimes her symptoms seemed different than other CVS kids. With any illness, symptoms vary from person to person, so when her symptoms didn’t perfectly fit, it just seemed that this was one way they varied. It never really crossed my mind that she might not have CVS at all. Maybe two or three times in the start, but as the months went by I accepted it. With the diagnosis of CVS, hospitals treated her as such. They never did any testing other than blood draws when we were admitted, they just gave her IV fluids and waited for her to stop vomiting (thats the CVS protocol that was given to me in a handout upon discharge). When medication didn’t seem to help, her doctor kept upping her dosage until she reached the absolute maximum for her weight. Every time she upped the dosage it seemed to make Violet worse for awhile rather than better. But when I said it seemed worse she would just prescribe more things. Things for acid in the stomach. Things for nausea. It was hard to tell if they weren’t helping or if she wasn’t ingesting them for long enough to absorb anything, because she always vomited right after we gave her any of it. Earlier this year I started seeking a new gastroenterologist, because I was becoming sure that the medicine wasn’t helping, but I hadn’t found a doctor I liked yet and then we hit a long stretch with no sickness.
Sooooo let’s get to the point here Erin… What exactly did leafing through all those medical records reveal?
1) The first GI doctor with the strong accent, felt that Violet had an intestinal malrotation. His notes indicate that the “something anatomical” that I remembered, was specifically intestinal malrotation. He believed this because of the bile in her vomit and because she had a distended belly before every episode. His notes mention other possibilities, but that his suspicion is intestinal malrotation.
2) The GI series he sent us for (meant to rule out the intestinal malrotation aka “something anatomical”) was not done correctly. We had a doctor look at the old slides last week, and he could instantly tell the test had been administered wrong. Apparently, when you test for intestinal malrotation you need to WATCH the patient drink the barium WHILE they are being x-rayed so you can watch it go through their stomach and into their intestines. The doctor who performed the test told her to drink the barium first, then put her on the x-ray table. Her GI series just showed a giant glowing mass in the middle. It should not have been used to rule out an intestinal malrotation.
3) The ultrasound did not get the correct angle needed to diagnose a volvulus. A volvulus will show up as a whirlpool pattern on an ultrasound from a certain angle. Violet’s volvulus’s would come and go (when she was sick she had a small one, when she was well she likely didn’t, when she had surgery she had a life threatening one), so had the test been done correctly it might not have shown anything anyway since she was well at that time. Intestinal malrotation (which is what can cause a volvulus to develop) is always present, but not something you can see easily on an ultrasound. Occasionally you can tell from ultrasound that certain organs are not in the right place, but not always. Either way, in the notes for the ultrasound, the radiologist recommended retesting because one of Violet’s organs was not visible. No one told me we needed to redo that test.
4) The pediatric gastroenterologist that diagnosed Violet with CVS likely never actually looked at Violet’s tests. If she had, she would have seen that they were not done correctly. She would have also seen that the ultrasound radiologist recommended we repeat the test. Had she listened to my request to see if anything looked different while Violet was sick, she would have caught this back then.
5) The endoscopy that came back “normal” actually notes that Violet had a thickened duodenum. An endoscopy is not something used to diagnose intestinal malrotation (the doctor did it because I requested one to rule out FPIES), but a thickened duodenum is one of the signs of intestinal malrotation that they are generally looking for on the GI series.
6) The medication Violet was prescribed says specifically not to take if you have obstructions: “Cyproheptadine can cause side effects such as constipation. Do not use cyproheptadine if you have any kind of blockage in your intestine. These side effects can worsen your medical condition.” So no wonder upping her dosage always made her sicker.
Hindsight is 20/20 I suppose. Thank you for letting me air all my grievances. I can already feel some of that anger dissipating just having typed it out. And if you made it through this whole post, I owe you a glass of wine and a cookie.