Thursday, September 26, 2013

A Small Victory and a Tiny Bit of Relief

I forgot to take the cardiology referral with me to work today, but the minute I walked in the door after picking up the boys, I made that phone call.  I was dreading having to take LB to yet another specialist (mostly because I didn't want him to have a heart problem in addition to his metabolic condition), but at the same time, I was anxious to have some clarity and some answers about the murmurs and what they meant.  I was also dreading calling them and hearing that they could squeeze us in for an appointment in November and that we would have to wait more than a month to get those answers.

To my pleasant PLEASANT surprise, after taking all of the basic information on LB, they asked if we could make an appointment on MONDAY.  Really?  You mean Monday as in 4 short days from now?  Why yes, four days.  I was floored.  Unfortunately, the appointment time was right in the middle of our oldest son's first preschool field trip, which we had volunteered to chaperone, so I pressed my luck and asked what their next opening was.  It was on Thursday, exactly a week from today and I took it. 

I hung up the phone and exhaled.  I was nauseous with worry and had seriously been on the verge of tears all day because I was so upset by the thought of LB having something else on his medical resume.  Knowing that we would have answers in one week was a small measure of relief.  I can deal with these feelings of anxiety and uncertainty for a week.  We wouldn't have to wait for a month to figure this out.  At this time next week, we'll know what we're dealing with.  We're hoping for another innocent murmur.  If it turns out to be one of the other possibilities (hole in the heart, heart valve problem), we'll just need to get to that place of peace again (similar to what we had to do when we found out he had MCADD) and just do what we need to do.

Wednesday, September 25, 2013

18 Month Check-Up (The Well Visit that Wasn't)

LB had his 18 month check up today.  As usual, we were looking forward to seeing how much he weighed, how tall he was and how he was progressing in physical/motor/social/verbal skills via the developmental questionnaire we fill out at each well appointment.  The visit started great.  He weighs 22 lbs (19th percentile) and is 33 inches tall (61st percentile) and we got through about 20 more developmental questions that put him solidly ahead of the curve (running, talking, picking up small objects, stacking blocks, etc., etc., etc.).  Then the pediatrician came in and told us how great he looked and how well he was doing.  Fabulous! 

Then, he started his physical exam.  LB was cooperative, as usual, and at the point that the doctor started listening to his heart, I could tell that he was taking extra time and listening extra carefully. Initially, I was not concerned at all.  We had seen another pediatrician at the last appointment because we just needed to get him in quickly (since I -ahem- missed his 15 month appointment - doh!!), so I assumed our regular pediatrician was just taking some extra time to hear the innocent Still's murmur that was found last month.  Well, turns out he heard the Still's murmur AND another one.  He was concerned about the other one.

He explained that murmurs are just noises that the bloodflow of the heart makes and that certain noises can indicate certain things.  The new murmur that he was hearing could be a few things -- it could be something else that is innocent OR it could be two other things that were far from innocent.  He told us that murmurs sometimes indicate blood flowing through a hole in the heart that isn't supposed to be there and that murmurs sometimes indicate problems with heart valves, which are supposed to have three flaps (called a tricuspid valve), but can sometimes have only have two flaps (called a bicuspid valve).  Those final two scenarios were concern enough based on the specific sounds he was hearing, to refer him to a pediatric cardiologist.  The pediatrician was reassuring and did a great job of delivering the news and I definitely put on my game face and told him I understood and appreciated the need to be thorough, to get it checked out, etc., but on the inside, I was crushed. 

Really?  Our sweet little boy who already has one medical condition to contend with and now he has to go see a cardiologist because he might need heart surgery?!  Really?  Do we have to add this to his plate, too? 

I also started to blame myself.  What the heck was I doing while I was pregnant to cause him to have a heart problem on top of the faulty genes I passed onto him?  Did I somehow cause this?   Could this one be my fault?

It was a pretty silent ride home from the pediatrician and it took us awhile to call Grandparents and siblings with the appointment stats (which are usually happy phone calls) considering there was also this rather crummy news to report, as well.

Luckily, the pediatrician recommended two pediatric cardiology groups in our metro area and I have a Task Force friend that is the world's most knowledgeable parent resource on pediatric hearts who was able to point me to the cardiology group that she trusts the most (Amanda Rose Adams, check out her book Heart Warriors, she is amazing!) so at least it will be easy to schedule an appointment, which we are anxious to do.  I'm worried that this uncertainty hanging over us will quickly become oppressive.  I know specialists are sometimes hard to get in to see, and I can't imagine needing to wait a month to find out what's going on.  I'm already feeling in a funk over this whole thing.  LB is too cute of a kid to be sick!!

Tuesday, September 24, 2013

How I'm Celebrating Newborn Screening Month

I am ashamed to say that less than two years ago, I was blissfully ignorant of the test that would save my son's life.  My husband and I were both healthy and came from healthy families with great genes.  I had read all the books on pregnancy and taken all the classes.  I had already given birth to one healthy baby boy, yet somehow newborn screening took us by surprise.  This surprise didn't come while his screening was happening in the hospital, 24 hours after LB's birth, but 3 days later when we got a call from our pediatrician telling us our son's levels for MCADD were "off the charts" and he was a presumptive positive for this rare, random metabolic condition that we couldn't even pronounce.

We got a crash course in newborn screening as we were learning how to care for our adorable baby boy with a metabolic condition.  Once the shock of it all wore off, I felt an overabundance of gratitude for this system that I didn't even know existed and I vowed to make sure that more parents were aware of this lifesaving test.  I was selected to serve on the Baby's First Test 2013 Consumer Task Force on Newborn Screening and I knew that my project as part of this effort would somehow have to do with educating expectant parents about all the things I wish I knew about newborn screening:

1) I wish I knew that newborn screening was going to take place.  I'm glad my newly postpartum hormones didn't cause me to freak out on the poor technician who came into our room to take drops of blood from our son's heel, but I kind of wish I didn't miss it altogether with both of my boys, either.  Especially, now that we know what we know.  I wish I had a chance to say thank you to that technician.

2) I wish I knew why newborn screening was even necessary.  He had great APGAR scores.  He was a healthy weight.  He was latching well.  All the doctors who examined him in the hospital told us he was healthy.  Why would a perfectly healthy baby boy need to have his heel pricked?  Couldn't everyone see that he was perfect?!  Well...he was perfect on the outside, but we soon found out that there was something going on inside his body that no one would have been able to spot just by looking at him.  There was something invisible going on, an error in his genetic code that was putting him at risk of all kinds of scary things.  I wish I knew that there was a test like this to let us know that our healthy baby boy really was HEALTHY - inside AND out.

3)  I wish I knew that it could happen to me, to our family, a family with great genes and no history of anything like this.  I was the kind of person who didn't see the need to do any prenatal screenings either.  I figured that I was healthy, my husband was healthy and we came from healthy families, so something like this would never happen to us.  I wish I knew that we were not immune to this recessive genetic condition popping up in our son - a 1 in 15,000 chance.  For my husband and I, we just both happen to have the same silent genetic mutation and we just happened to fall in love and have a family.  We now know that it's a 1 in 4 chance that our children could have MCADD.   It can happen to us and it did.

4) I wish I knew that there is  system in place to support and educate families with positive screenings.  Not knowing that newborn screening even existed, I felt very alone and very scared in those first hours and during that long first night home with an MCADD diagnosis, unable to sit down and talk face-to-face with our pediatrician until the next morning.  I now know that I have a team of genetic counselors who explained autosomal recessive inheritance to us and can coach us through any future pregnancies with regard to MCADD and who personally worked with our pharmacy to ensure that the medication he needs can be supplied to them.  I now know that I have a team of metabolic specialists ready to answer my phone call 24 hours a day 7 days a week when my child is ill and a pediatrician who cared enough to give us his personal cell phone number so that we would never have to use his answering service.  There are also scores of online support groups for families and an endless array of resources for every possible need in our lives -- feeding tips, diet tips, educating our child's teachers, creating 504 plans, you name it.  I am not alone!

In thinking about the best way to spread this message, I was immediately confronted with the newborn screening conundrum -- obstetricians and midwives take care of the pregnant woman and newborn screening is a test done on infants, in many cases BEFORE they even see their regular pediatrician.  It happens during a transitional phase of care between the mom and the baby.  Not to mention the fact that it happens during one of the most chaotic times -- 24 hours after giving birth when you are exhausted and sore and trying to juggle excited family members and doctors and nurses and lactation specialists and phone calls and more excited family members and take care of this tiny little life that you are still absolutely breathless about (i.e. NOT the best time to educate anyone about anything). 

Considering a 24-72 hour hospital stay is such a short span of time compared to the 9 months that a woman is pregnant, it just made sense to me that newborn screening education should be performed by the obstetrician or midwife, yet I was never handed any brochure about newborn screening from my OB's office.  I guessed this was because they specialized in pamphlets that talked about pregnancy, not about babies.  In my research, I found only one piece of literature that married prenatal education with newborn screening education and it was from the U.K. - a timeline that described all the screening tests to expect from conception through to newborn screening and I knew that it was genius!  I wanted to do something like this for the U.S.!

Since I am graphic-design challenged, I decided I needed a designer to help me put this idea on paper.  I happened upon a graphic design program at a local university whose department chair was interested in working with me.  She paired me with a class and I became their "client."  I made several visits to them - first, to tell my story and then to see how their creativity brought my idea to life.  I was blown away by how thoughtful and creative they all were.  They brought such energy to this effort and I know that they will be giving me a very difficult job of selecting only one winning design that I will produce and distribute across the region.  I am so very excited to get started.

Monday, September 23, 2013

Toddler Talk

Me:  LB, what do you want to eat for breakfast this morning?

LB:  THIS! (pointing to the snack area of the counter where we have various crackers, chips, fruit, etc. stacked about)

Me:  You want animal crackers for breakfast?

LB:  NO!  THIS!  (still pointing)

Me:  What are you pointing at?


Me:  You want potato chips for breakfast?!

LB:  Yes.

Me:  Sorry, buddy.  We don't eat potato chips for breakfast.


I love that we can hold a conversation with him now  =)

Saturday, September 14, 2013

Business Travels

I used to love traveling for work, but now I almost dread it.  I really hate being away from my boys and coming home has turned into my absolute favorite part of a business trip -- I love unpacking my suitcase and turning around to find my two favorite little boys stowed away in it.
It was a nice trip -- flew out on Monday, flew home on Friday and logged a few hundred miles on a rental car between two states in between.  I arrived home just in time to snuggle my boys and tuck them into bed, ready to start the weekend. 
I managed to miss a pretty spectacular week here in Colorado with all the rain and flooding.  We are soggy, but not flooded.  It's ironic how we have been praying for rain to end the drought (which was causing all these really devastating wildfires for the last two years and sidling us with watering restrictions and enormous water bills despite our efforts at conservation) and Mother Nature thought it would be nice to pay up in  three days time with enough rain to last a whole season.   Be careful what you wish for, I guess.

Sunday, September 8, 2013

Three Peas in a Pod

What started off as ONE boy drinking from the sprinkler...
quickly turned into TWO boys drinking from the sprinkler...

and then THREE boys drinking from the sprinkler.

Best backyard sprinkler picture ever!

Sunday, September 1, 2013

Happy Newborn Screening Month!

It has been an excellent year to get involved in newborn screening advocacy for so many reasons, but probably one of the biggest reasons this year has been so exciting is that the whole newborn screening community has been gearing up for September 2013 for quite some time now.  Welcome to the 50th anniversary of newborn screening in the United States!

In honor of newborn screening month, there are a number of awareness campaigns underway and I hope to introduce you to many of them over the next 30 days.  The first campaign is from Associated Public Health Laboratories (  They have an awesome brochure that is perfect for expectant parents and an incredible book recounting the detailed story of this simple test and how it became ubiquitous in newborn nurseries across the country and around the globe.  The book is chock full with family stories and I admit that I have read the entire thing cover to cover. To someone who tears up every time I think about the depth of my gratitude for newborn screening, the book was a bit of a tear-jerker, but also deeply, deeply inspiring.  They are still working to make the system better, to do it faster, to do it more accurately, to include more conditions, to save more lives.  I am thankful for the work that they are doing each and every day. 

Newborn screening saved my son's life and the next life it saves could be that of a baby close to your heart!