Congential Hypothyroidism

Do you know what that is?  I didn't either when Margot was born.  In fact, I had never heard of it at all until she was 9 days old.  That is when her pediatric endocrinologist gave us her diagnosis.  It's been a whirlwind adventure in her sweet 8 weeks of life, but we are finally adjusting and headed down this new path.

When Margot was born she was a happy and healthy 8 pound baby girl.  Everyone commented on her beautiful coloring and how sweet she was.  When we left the hospital she had lost a few pounds like all babies do, but I wasn't concerned at all.  When we went for her two day post hospital weight check and she had lost even more weight, despite nursing well, I knew right away something was very wrong.  Call it mother's instinct, but I knew, I just didn't know what.

Eight days after Margot was born, we had taken the big tikes to my mom's house to go swimming.  Margot and I stayed inside and rested while Josh and the kids had a ball, it was just a normal, fun, relaxing day.  When we got  home from the pool about 3pm. our little world was turned upside down.  We had a message on our answering machine from a pediatric endocrinologist office regarding Margot's appointment.  I was confused....endocrinologist...Margot....what the hell.  I think those were my exact words.  My heart dropped, because that mother's instinct kicked into full gear....I had known something was wrong, it was like a sixth sense.

The message was as follows....and yes I can repeat it, because it is a message I'll never forget....

"Hi this is the Dr. M's office calling from the Children's specialty clinic, I was calling to set up Mar-"gots" appointment (really no one pronounces it Margeaux....it's always mar-got, yes mom you were right, but still I don't care, I love the spelling I chose.)  You have an appointment tomorrow (Thursday) at 11:00am, if you cannot make that I have also set one up from Friday at 1:00pm, but the doctor feels it is imperative that you be here tomorrow if you can.  Please call us back to confirm at this number..."

Can you say I was freaked out, confused, scared and everything wrapped into one.  Margot had not seen her pediatrician or anyone else with MD behind their name except her dad, since we left the hospital when she was 2 days old.  She had been continuing with weight and Bili checks, but we had not seen any pediatricians, so needless to say we were more than stumped as to why we needed to suddenly see a specialist.  No clue. 

The first thing we did was call the specialty clinic to see if the appointment was really for my sweet, perfect baby.  It was.  We then asked why?  The receptionist said for her thyroid.  We asked if she was sure it was for Margot, because we were not informed about any thyroid problems.  She said yes. 

We then called our pediatricians office.  Dr. B was out of town.  Her office did not have a clue why we were being sent 2 hours away to see a specialist.  There was nothing in her chart.  We got no where.  Josh did find out which pediatrician referred her, and after many tears and phone calls, Josh realized she failed her newborn screen for hypothyroidism.

The tears started flowing.  I was so ignorant when it came to congenital hypothyroidism.  I knew nothing about it.  I had no clue and was so afraid of google.  I called a friend of mine and the tears started flowing and even though I couldn't even talk to tell her what was wrong, I didn't need to.  She just cried right along with me, until I calmed down enough to explain things.  Sometimes you just need a good cry first.

We headed up to see the pediatric endocrinologist that will now follow Margot throughout her childhood.  She was only 9 days old and already in a waiting room for a specialist, never what you want to have to do with your newborn or any child for that matter.  After waiting about two hours we finally saw Dr. M.  He walked in and explained that based on Margot's newborn screen she was being diagnosed with congenital hypothyroidism.  Apparently a normal THL number for her thyroid would be 0.8  and hers was about 178.   He didn't even repeat blood work to make sure, he immediately started her on a daily thyroid medication that she will require for the rest of her life.  He also explained that this occurs in 1 of 4,000 babies and predominately in females.  He also explained how nothing I did or did not do during my pregnancy caused this  to happen, it just occurs during fetal development.  It didn't relieve the guilt that I had inside, not even one tiny, little bit.

He gave her the first dose of medication right there in the office, it kind of took me by surprise.  Shouldn't we do more testing?  I mean look at my sweet baby, she was perfect!  Medication, daily, seriously.  I couldn't even wrap my head around this a little bit.  I was scared, I was confused, I was in denial.  Because although I was sitting there in the room, with a specialist, listening to all the information, part of me was still thinking this was not real.  The test results were not hers, this was just a mistake or a really bad dream.  This didn't happen to me, this happened to one of the other 4,000 families. Dr. M just kept talking, I caught bits and pieces, I listened as he explained how very important taking this medication is, and how important it is that she get this medicine daily and at the same time every day and how it needed to be taken on an empty stomach. And there I had something more "tangible" to worry about.  An empty stomach, how in the hell do you give a newborn who is nursing every 2 hours and not really on any type of schedule medication on an empty stomach at the same time daily.  I finally had something smaller to wrap my head around.  I didn't need to worry about hypothyroidism or the long term effects, or if it would cause problems during her pregnancies one day, or how would she do taking this medication as an adolescent or in college, or if it would affect puberty or if she would fight obesisty.....  I could worry about the here and now and how in hell I was going to get this medication in her and on an empty stomach.

He also explained how taking this medicine daily and at the right dosage is especially critical in the first three years of life for normal brain development.  And that we would closely monitor her dosage this year due to how rapidly babies grow this first year.  And then he explained how it is also important for the rest of her childhood for normal growth and development.   And in my head I was still thinking about getting it in at the same time on an empty stomach....would 9am work best or 4pm or 9pm....I was in denial.  After going over all this with Dr. M, we headed home with our new prescriptions, samples of medication, a return appointment to recheck her levels, a headache and a heavy heart.

Margot is now two months old, we have been back to see Dr. M for her follow up and have received some very good news.  Her THL numbers are now normal, her thyroid levels are within normal limits, we are doing the best we can with getting the adult pill crushed in water down her and on an empty stomach, she is reaching age appropriate milestones on time, and she is getting chunky.  I cannot tell you how very blessed I feel about all this good news. 

So yes, throw all that on top of being the momma of three tiny tikes and just trying to survive the day and it is enough to drive you insane.
All that being said, I am now in a better place.  When I got the letter from Dr. M Friday letting me know her levels were all normal I felt like the elephant that had been parked on my chest for the last two months had finally got off of it and I could breathe.  It hasn't been easy.  I've thought about getting on medication myself.  I've been in a constant state of shock, denial, heart ache and very anxious.  But I've gotten better and feel like I am not returning to normal or to my new normal...I'm still adjusting to three, but it is good.

Life threw us for a loop, we are going down a slightly different path than the one we set out for and planned for with our baby girl.  And while the path is not better or worse, it is only different, it is still taking some navigating to meander through.  I know I am very fortunate, and that this could have been much worse, I hate hearing those words.  I'm not sure why.  I hate that Margot will need to take a daily medication forever and yet thankful that such a medication exist.  I hate that she needed to go to a specialty clinic at 9 days old and yet I am thankful they caught it so early.  I hate hearing that at least what she has is treatable when I tell people her diagnosis and yet I am so thankful that it is.  I hate when people say I told you everything would be okay when I tell them our recent good news and yet I am so thankful things are turning out to be okay....actually they are more than okay, I am the mother to three beautiful babies and I'd say life is pretty damn good.  I'm not sure why I hate those things....I just do and I'm just being honest.  I'm getting it off my chest along with that elephant.

So there is an update Internets.  It's been a long two months.  Lots of ups and downs and somersaults in between.  I'd love to share some updated pics, but in true third child fashion I really don't have any of Margot.  And it's not because my day is too busy to snap a quick photo although most days are, it is because my camera is broke.  And because I can't find my other one.  I promise to get some of her on here soon, because she is so damn cute.

I also apologize for my abscense...again.  It took me a long time to get this post up here.  There is so much I wanted to say about it, but at the same time so much I didn't' want to say.  I was wanting to make sure I was in a good place first and finally I am.  Rejoice with me in her good news and I promise now I am back.