You’ve been home from the hospital for 3 days and are adjusting to life with a new baby. You’re probably dealing with all of the wonderful new things that come along with being a parent: Crying, breastfeeding issues, sleepless nights, counting wet diapers and of course worried about every little thing. You’ve already had your first trip to the pediatrician and everything looks great. In fact, everything seems fine when all of a sudden you get a phone call.
“This is the Hackensack University Hospital Genetics Department. Your baby’s genetic screening came back as a positive for a possible Organic Acidemia. We need to schedule you to bring your baby in for a blood test to confirm as soon as possible.” Genetic test? Organic what? As soon as possible? Next, or possibly before, you get a call from your pediatrician, whom you probably just met, who tries to explain what your baby has just tested positive for. Your mind is racing and if you comprehend 10% of what is being thrown at you than you are ahead of the game. You hang up the phone, still in a daze, trying to get a handle on things, now looking at the crying baby in your arms with a whole new set of worries.
I am not a geneticist, or a doctor, and of course needed more information. So who did I turn to? Who else but Dr. Google. A quick search of “Organic Acidemia” returned some of the most horrific things you’ve ever heard of. The highlights include: very rare disorders that affect a very small percentage of babies, organic deficiencies that can lead to severe physical and mental development problems and the coup de gras: Your baby may look totally fine but could be dead within a few days. Fun stuff, huh?
If you just got one of these phone calls, or know someone who has, here are some things to be aware of.
-The false positive rates for these screener tests are pretty high. In New Jersey, where we live, they test for around 30 different genetic abnormalities. A drop of blood and urine sample are taken from your baby right before they discharge you. In New Jersey they test around 110,000 babies each year, of those, roughly 3% come back as positive for one of these genetic disorders. Only about 10% of those that test as a possible positive will end up having the disorder. Let me repeat that, 90% of the time this is a false positive. These false positive rates are for New Jersey and an aggregate from all of the genetic tests they conduct, so please check with your own state for the abnormality your baby tested positive for to get the accurate false positive rates. The point is not to get too crazy before anything is confirmed.
-Each enzyme deficiency has a very specific set of symptoms to look out for as well as a very specific prognosis. Whether it’s an Organic Acidemia or a Fatty Acid Oxidation Disorder, make sure you find out exactly what your baby screened positive for. Some of these are PKU, SCAD, Maple Syrup Urine Disease and about 10,000 others. Some are very severe while some are relatively minor. The biggest problem here is that most of these symptoms are something that all babies have: lethargy, discolored stool/urine, and lack of hunger. So try not to go too nuts, just keep doing what you are doing.
-These conditions are all pretty rare. So there is very little information out there and what is out there is mostly made up of horror stories on support sites. STAY OFF THESE SITES UNTIL YOU HAVE THE CONFIRMATION TEST. Use only sites like www.aap.org, www.webmd.com, hospital websites, or medical journals like the New England Journal of Medicine. All other information, including the information provided here, should be used for information purposes only and not considered fact until confirmed by a pediatrician or pediatric geneticist.
All in all genetic testing is a very good thing. It catches things that if caught early enough can be treated or managed. While it does cause a lot of stress and worry for people who will end up being negative( 90% in fact) the ends justify the means. If you are one of the unlucky parents who have to go through this I hope this helps and you end up being, as we were, one of the many false positives. If your baby is confirmed to have one of these disorders: be thankful that testing was done, it was caught early and know that there is hope.
Some Useful Web Resources:
List of Genetic Conditions
http://ghr.nlm.nih.gov/BrowseConditions
About Newborn Screening
http://aappolicy.aappublications.org/cgi/content/full/pediatrics;118/3/1304
http://www.webmd.com/a-to-z-guides/genetics-newborn-screening
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