Malrotation

Malrotation is a birth defect that occurs during the 10th week of pregnancy. There is no known cause for Malrotation and is defined as a disruption of the development of the bowel. The intestines are formed between the 5th and 10th weeks of pregnancy and travel from the umbilical cord inside the child’s body. As the intestines are moving into the body they make a series of specific turns inside the body and stay that way for the rest of your life. There are a number of specific turns the intestines have to make in order for everything to be in place and no complications. When the intestines do not make the correct turns that is when Malrotation occurs. Some people live their whole life with Malrotation and never have a problem. As many as 40% of children with Malrotation present within the first week of life. This means that the child has complications due to the Malrotation. Malrotation is diagnosed in 50% of children by 1 month of age and is diagnosed in 75% by the age of 1 year. The remaining 25% of children present after 1 year of age and into late adulthood; Malrotation is located during other procedures (operations, ultrasounds, x-ray, etc.) or at autopsy. Doctors do not take a proactive approach to detect Malrotation, instead they take a reactive approach and wait until the child has complications and becomes ill.



Here are a few statistics of birth defects that you may have heard about, read about or your doctor has told you about. The most common type of birth defect is heart defects, affecting 1 in 100 births. Cleft lip/palate defect, affect 1 in 700 births. Neural tube defects which include Spina bifida and Anencephaly affect 1 in 2000 births. Down syndrome affects 1 in 800 to 1000 births. All or most of these you may have heard of, but get this. MALROTATION affects 1 in 500 births! Malrotation is more common than Down syndrome, Cleft lip/palate and Neural tube defects. All of the above are advertised, tested and check for during pregnancy and given precautions about from OB/GYN’s during pregnancy with the exception of Malrotation.



Malrotation is detectable. It is easily detected on ultrasound and with x-ray. Here is a link that shows Malrotation on ultrasound:

http://www.thefetus.net/page.php?id=1155 Here are a few more links that describe Malrotation in more detail: http://emedicine.medscape.com/article/930313-overview http://www.healthsystem.virginia.edu/uvahealth/peds_digest/malrotat.cfm http://www.cincinnatichildrens.org/health/info/abdomen/diagnose/intestinal-malrotation.htm This is a link to a parent’s story about their child and Malrotation: http://forums.wrongdiagnosis.com/showthread.php?t=26984 A friend of ours on Myspace.com sent this email to us from a relative of theirs who is a pediatric nurse: “I am so glad you sent out this email. My first week after I came off orientation as a nurse, I was handed a 10-day old baby from EMS that had been vomiting green bile for a day or so. Her pediatrician rushed her to our hospital as soon as the parents brought her in to the doctor's office...I was told by the doctor over the phone that this baby would die if we didn't act fast, she had a Volvulus. I was completely unaware of the severity of this disorder, I don't remember them ever talking about it in nursing school. The surgeon actually came up to the pediatric floor and literally took the baby from me and she was taken to the OR immediately to 'untwist' her bowel. The next day I went to visit her in the peds ICU and the doctor said she probably had a 25% chance of living over the next few days; half of her small intestine had already died from where her bowel was twisted. This baby spent 4 months in the PICU and finally was able to go home 2 days ago. It was a miracle she lived this far, but they had to remove so much of her bowel, her nutrition is extremely poor even after placing a surgical feeding tube, and she now relies on IV and feeding tube nutrition that will eventually send her into liver failure. We all fell in love with this child since she was with us for so long, but her outlook is grim. I'm so glad you are aware of this problem, and are educating others”. The Center for Disease Control in Atlanta, GA provided us with the following information. We asked about statistical data concerning births and Malrotation and unfortunately only two states have ever compiled data on this birth defect. Apparently there is a lack of funding for tracking birth defects and it is left up to each state to determine if they track and keep data on birth defects. “There is no single national monitoring system for birth defects in the U.S. Birth certificates are collected for all US births, but these only record conditions that are symptomatic at the time of birth. More comprehensive birth defects monitoring is performed on a state-by-state basis. Not all states have a birth defects program, and those that do often are not able to monitor all defects, due to limited resources”. “Published data on intestinal Malrotation rates is available from two state birth registries. Both registries recorded birth defects diagnosed in infants up to one year after birth. Malrotation that does not cause symptoms, or that became symptomatic beyond one year of age, may not be included in these data”. “In Hawaii*, from 1986-1999 there were 81 cases of intestinal Malrotation recorded in the birth defects registry, giving a rate of 2.9 cases per 10,000 live births and fetal deaths. In 18 of 81 cases, Malrotation was associated with Volvulus. Of these 81 cases, 76 were live births. There were 12 deaths in the first year of life among the 76 live births, giving a mortality rate of approximately 16 per cent. During a comparable time period, the prevalence of intestinal Malrotation in the Atlanta birth registry was very similar to the estimate from the Hawaii birth registry”. “In California*, from 1983 to 1993 there were 892 cases of intestinal Malrotation recorded in the birth defects monitoring program, giving a rate of 3.6 cases per 10,000 live births. The numbers of Volvulus cases and deaths from intestinal Malrotation were not reported”. Forrester MB and Merz, RD. Epidemiology of intestinal malrotations, Hawaii, 1986-1999. Paediatric and Perinatal Epidemiology 2003, Issue 17, pages 195-200. Torfs CP and Christianson RE. Anomalies in Down Syndrome Individuals in a Large Population-Based Registry. American Journal of Medical Genetics, 1998, Issue 77, pages 431-438. [Note: this paper reports on birth defects in individuals with and without Down Syndrome.]

Volvulus

Volvulus in plain language is described as the twisting of the intestines. The intestines twist and cut off blood supply to the intestines which in turn cause the affected area of the intestines to die. This in turn if not SURGICALLY CORRECTED within a matter of a few hours can cause loss of bowel activity, heart attack, stroke, sepsis, failure to thrive, and death. I was told to picture it like this: Imagine an empty swing, like at a park or a playground. The wind is blowing and the swing is moving back and forth. A gust of wind comes through and the swing goes up and around the metal bar holding it and comes back down, twisting and wrapping the chains around the metal bar. Volvulus doesn’t occur unless there is Malrotation. Volvulus has no warning and can happen at any point in time. There are however signs and symptoms that Volvulus has occurred. The signs could be mild to severe and they could be immediate or intermittent over a period of time. Some of these signs are: vomiting green or yellow bile, severe abdominal pain, swollen abdomen, drawing up of legs, there are more signs and can be found in the web links provided above.

Malrotation is detectable by ultrasound, x-ray and other specialized forms of x-ray (barium x-ray). Unfortunately as of right now Malrotation is not on any list of birth defects that doctors check for during pregnancy. Each state has certain defects and conditions that they check for during prenatal care and in newborns. We have provided this link to each states newborn screening list: http://genes-r-us.uthscsa.edu/nbsdisorders.htm and as you will see Malrotation is not on any one of them. Detection of Malrotation is not costly, and does not require a tremendous amount of extra time to detect. It could be included in the ultrasounds provided during prenatal care visits while pregnant. It could also be included in the post natal care period after the baby is born before mother and child are released from the hospital in the form of an x-ray or ultrasound.

It is our main goal to promote awareness of Malrotation and Volvulus and to bring it to the attention of doctors and the legislature. We also strive to help implement detection of Malrotation during pregnancy and during the first week of life. There are on average 245 babies born each minute; therefore it is our mission to help save the lives of children and to prevent parents from experiencing the horrible pain and grief that comes with the loss of a child. Malrotation can be detected, parents can be aware of this birth defect and know the warning signs of Volvulus and lives can be saved. Please join us in our fight against Malrotation and help us create a world where ignorance of this birth defect is no more. SPREAD THE WORD.

Georgia McKenzie Gardner

October 30th, 2007 – October 23rd, 2008

I carry your heart with me(I carry it in my heart)I am never without it(anywhere I go you go, my dear; and whatever is done by only me is your doing, my darling) I fear no fate(for you are my fate, my sweet)I want no world(for beautiful you are my world, my true) and it's you are whatever a moon has always meant and whatever a sun will always sing is you here is the deepest secret nobody knows (here is the root of the root and the bud of the bud and the sky of the sky of a tree called life; which grows higher than the soul can hope or mind can hide) and this is the wonder that's keeping the stars apart I carry your heart(I carry it in my heart) - E.E. Cummings