LB Speak

LB is talking up a storm lately.  I've heard of kids with MCADD having speech delays, but this definitely hasn't been the case with him.  He's saying new things every day and is surprisingly understandable, even to people who don't spend much time with him.  He's getting so good at talking, in fact, that he's starting to create his own words.  For example:

M'uice (a portmanteau of More and Juice)
Pronounced:  Moose
Used in a sentence:  "Mommy, M'uice please!"

Y'o (a portmanteau of Yes and No) and sometimes N'yes
Pronounced:  Yo and Ni-yes
Used in a sentence:  Although he was cold, he was definitely having a lot of fun playing in the snow.  When I asked LB if he was ready to go inside, he was torn about how to answer, so he told me "Y'o." ("N'yes")

My favorite thing that he says (which he said for the very first time tonight as I was tucking him into bed) is "I love you Mommy."

An Ordinary Day

Watching Curious George.

 

 

Smiling for the camera.

 

Eating popcorn and watching Planes while Daddy watches the AFC Championship game.

Vacuum Cleaning Robots and Cute Little Boys

My husband (aka the best husband in the WORLD!), got me a vacuum cleaning robot for Christmas.  It has been the most wonderful gift because in addition to never having to vacuum ever again, I have suddenly realized that I have at least an hour more of free time each week.  Instead of lugging the vacuum through all three floors of the house at least twice a week (we have a dog and a cat and anything less than that has the whole family walking around covered in fur), I can work on my hobbies, squeeze in a workout, relax with a good book or (what I've been doing a little too much lately) following my little robot around while giggling and drinking a glass of wine. 

I have been running my vacuuming robot nearly daily since I got her, but I realized today that she's usually only vacuuming when the boys aren't around (when I'm working from home or after the boys go to bed).  Since this week was extra busy, I had forgotten to run her for a few days and I decided a Saturday was as good a day as any to put the robot to work.  I set her up to clean the upstairs pretty much as soon as the boys got up in the morning since they hardly ever play upstairs during the day.

We went about our day and I forgot that she had been cleaning upstairs until it was time for bed and the boys found her sitting in her charging base.  LB was attracted to the glowing green "CLEAN" button on her middle and he decided to push it.  She gives a little chime once her button is pushed and he thought that was pretty funny, so he kept pushing the button to hear it again and again.  When he got tired of pushing the button, he stepped away and since she was in the "ON" position at this point, she proceeded to back out of her docking station, spin around and start to vacuum.  This scared him to death!  He started wailing immediately, but was paralyzed in place, unable to run away from her.  I obviously went to rescue him, turned off the robot and he decided that he didn't want to push the button any more.

Then, his big brother appeared and was also attracted to the glowing green "CLEAN" button.  He pushed it and smiled as it started zooming around the room, already grilling me in only the way a preschooler can about what it was doing and how it was doing it and why it was doing it.  LB meanwhile made a beeline for the closet, yelling "Mommy, HIDE!!"

I went into the closet with him where he was alternating between crying and yelling - "Brother stop push buttons!" and "No push buttons!"

We turned off the robot and reassured LB that she wouldn't do any more vacuuming tonight.  Then, he proceeded to grab her virtual wall (it's a little do-dad that lets you break up large areas of the house to tell her where to stop cleaning) and throw it down the stairs where it sprang open and spilled the batteries into the foyer. 

I guess I'll continue to vacuum with LB isn't around.  His older brother meanwhile is begging me to take the robot to show and tell.  =)

Talking About Timeliness

I had the opportunity to talk to the Secretary's Discretional Advisory Committee on Heritable Disorders in Newborns and Children today in an effort to continue advocating for timely newborn screening and follow-up.  It was the most important two minutes of my day, probably my whole week.  Here are my remarks:

Thank you.  I’m here to share with you what timely screening and follow-up has meant to my family.

Our son was born on a Tuesday morning after a healthy and uneventful pregnancy.  We were discharged from the hospital on a Friday afternoon when he was three days old.  As far as we knew, he was a perfectly healthy little boy.  We received a call from our pediatrician later that evening as we were getting our son ready for bed telling us that his newborn screening was “off the charts” for MCADD.

It didn’t take us long to realize how fortunate we were to have received our son’s results so quickly, before he was allowed to sleep for too long and risk serious health consequences.  Thanks to his rapid newborn screening, we had information that was saving his life and it was as simple as setting an alarm, waking him up and feeding him.  If only every family were so lucky. 

Our story was included in the recent Milwaukee Journal-Sentinel feature on newborn screening.  We were a happy story amid the stories of too many other families who did not receive this life-saving information about their babies until it was too late. 

I urge this committee to fix these issues that are endangering babies across the country.  In particular, I am advocating for:

·         Improved education for hospitals about the dangers of batching samples,

·         Mandated use of courier services to ensure that samples make it to the labs in a timely and traceable manner even on weekends and holidays, and

·         Assistance for state laboratories to help them identify any technologies or resources that will allow them to process samples 7 days a week because babies are born each and every day and days matter.  

I’m proud to say that our son is now a happy, active 22-month old thanks to newborn screening.  We have cheered his first smiles, first steps, first words and every milestone has been celebrated with an extra measure of gratitude.  For although every child is a blessing and a joy beyond words, our son gives us a little extra reason to know we have been blessed. 

From the bottom of my heart, THANK YOU for all you have done to advance newborn screening.  Thank you for giving us the opportunity to know our son and for the knowledge to keep him healthy each and every day.  Newborn screening saves lives.  All families deserve a happy newborn screening story like ours and the action of this committee to ensure timely screening and follow-up is crucial to achieving that goal.

Thank you for your time and consideration.

Prenatal and Newborn Screening Timeline

During my tenure on the 2013 Consumer Task Force on Newborn Screening, I had the opportunity to dream up a project that would help educate my community about newborn screening.  This project was supported through Baby's First Test by grant number UA8HP11070 from the Bureau of Health Professionals, Health Resources and Services Administration, U.S. Department of Health and Human Services.

The goal of my project was to develop a resource about newborn screening that could be used to educate expectant mothers about this life-saving test during pregnancy.  Right now, the vast majority of newborn screening education occurs in the hospital during the actual screening test, which takes place 24-48 hours after a baby is born.  As any new mother can attest, 24-48 hours after giving birth is a very busy time and certainly not the best time to adequately convey anything beyond the most basic information about newborn screening. 

With this project, I was hoping to give prenatal care providers (Obstetricians, Gynecologists, Midwives, etc.) a piece of literature that was relevant to their patients during pregnancy and introduced the topic of newborn screening at a less chaotic time.  After all, prenatal care proviers have 9 months of appointments with their patients, while the lab tech who performs the newborn screening usually only has a few minutes.  Thus, the idea to marry prenatal screening tests with newborn screening was born!

After months of work with some incredibly creative and talented design students at  Metropolitan State University of Denver, my prenatal and newborn screening timeline was developed.  It is a two-sided, tri-fold pamphlet that I hope many prenatal care providers will pass out during their initial appointments with expectant mothers.  It provides a checklist for pregnant women to navigate the various prenatal testing and includes the American Congress of Obstetrics and Gynecologists recommendations for what week of pregnancy certain tests can be expected to be performed. The newborn screening information is covered on the inside of the pamphlet along with a link to the Baby's First Test website for more information.  There is also a space for important contacts and appointment notes to be jotted down and I hope that lots of people will think to hang this on their refrigerator or bulletin board to refer to throughout pregnancy. 

If you or anyone you know would like a PDF of this literature, it can be downloaded from many places including the Baby's First Test website and the NewSTEPS website.  Please be sure to do a test print before setting your printer up for multiple copies. You might need to adjust the printing preferences to flip the pages on the short edge since the adobe default is to flip the pages on the long edge.

Happy New Year!

What better way to start a new year than with a new year's hike for the whole family!

 

 

yes, the dog even got to come along.