Christmas 2009

Thankful Video Contest 30 Sec. Version

Thanksgiving 09′

Genetic Testing Newborns

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

Honey I Think Something’s Wrong…

This is a phrase that I heard often throughout the pregnancy. I don’t consider myself a worrier. I’ve always been a kind of a go-with-the-flow type of guy. However it becomes a little different when it comes to your child.  With anything as complex as growing a baby there are going to be issues. Ours started right in the beginning. Whether it’s bleeding, cramping, nausea, or just plain old pain your wife is going to get worried. In turn you are going to get worried. One thing you can count on is that, if your wife is like mine, she will be Google’ing every little symptom.  Guys, Google is your worst enemy. For example, try typing in “week 10 bleeding”. You won’t even get the “b” in before Google finishes the search query and there are thousands of discussion threads about what this means.  Everything from “don’t worry about it” from supermom26  to “I had the same thing and had a miscarriage the next day” from annie2m. So who do you believe? Supermom26 or annie2m? My answer is neither. I mean really, who are these people? Annie2m could be a crazy alcoholic meth-head with serious medical conditions and Supermom26 could be just some whack job who doesn’t even have kids but loves attention. See what I mean, you just never know. These stories are all out there and to someone who is starving for answers they are awfully appealing. Your wife will eat them up and next thing you know you’re caught up in it. All you want is some peace and quiet and the “what ifs” don’t stop.

About 3 months in I had a revelation: Everything will be fine, until it isn’t. I came to the realization that this whole thing is completely out of my hands. If it’s meant to be it will be. Sounds cheesy but you have to surrender to that mentality. Because even if something is wrong there is little or nothing you can do about it.

One suggestion: For your sanity’s sake just go to the doctors anytime something doesn’t feel right to your wife. 10 times out of 10 it will be nothing but you will not stop hearing about it until a doctor tells her it is ok. Trust me on this and save yourself the agony of the never-ending guessing game.

Introduction

I started this blog to act as resource for all soon-to-be or practicing dads. It turns out that the majority of information out there about parenting is geared toward moms. Every blog post, comment post, or informational resource screams “written by women for women”.  It makes sense since most of the time moms are the ones who take the lead in parenting. After all they are the ones who have to carry the baby around in their belly for 10 months. However it’s no longer 1960. Most men both want and need to have more involvement in all of this parenting stuff.  I am 33 years old, I live in Northern New Jersey about 20 minutes outside of Manhattan. I became a dad on October 19^th 2009.  Here are some of my stories and experiences.