I’m a Pediatric Endocrinologist and My Son has Congenital Hypothyroidism

Imagine being a pediatric endocrinologist and getting the call that your newborn son has the same disorder that you treat. Well, that’s exactly what happened to my guest blogger, Dr. Sarah Hart-Unger.  I stumbled across her blog when I was doing research for my Wednesday Weekly Roundup and knew immediately that she’s someone you would want to learn more from.  I pleased to introduce her as my guest blogger today.

Hello, Thyroid Mom readers! Blythe contacted me after reading on my blog (the SHU box) that I was in a rather unusual situation: I am a pediatric endocrinologist who treats thyroid disease every day at work, and I recently had a beautiful baby boy — Cameron — who was diagnosed with congenital hypothyroidism. After a failed newborn screen his levels were initially borderline, but with a TSH that refused to normalize and falling free T4, he was started on treatment at 6 weeks of life. He is currently doing well and seems to be thriving on a low dose of Levothyroxine.

The diagnosis felt completely surreal to me! Even the initial phone call was confusing, as I thought the state screening lab was calling about one of my patients (didn’t they know I was on maternity leave!?). Once I sorted things out I calmed down, but still felt baffled. I had to remind myself that the diagnosis usually comes out of the blue in my patients, too! I always used to reassure parents that Congenital Hypothyroidism was one of the best things to be diagnosed with if you had to have something, because it is completely manageable with medication. While I knew this in my heart, it still felt hard to think of tiny Cameron as having a problem with anything.
Blythe asked me to share a little bit about the experience given my dual perspective. Here are a few of my thoughts on Congenital Hypothyroidism, now dealing with it from a new angle . . .

Symptoms and signs: Reading this site, I now realize that many times patients aren’t as familiar with the symptoms of thyroid disease as we often assume they are — especially in children. Congenital Hypothyroidism is often very subtle and hard to detect in newborns, and that’s what the screen is for. However, in a newborn a few things that can be associated are:

— jaundice (yellowing of the skin) in a newborn that lasts longer than a few days
— wider-than-usual fontanelle (the ‘soft spot’ on the head)
— poor growth (length especially)
— large tongue or umbilical hernia present from birth
— constipation
— trouble keeping body temperature warm enough

If you notice any of these features in your newborn, the most important thing is to make sure the state newborn screen was sent and followed up properly. Most states have good systems in place to ensure this, but it’s absolutely worth it to check with your pediatrician. Once past the newborn period, thyroid hormone is important for nearly every system of the body functioning normally. Fatigue, constipation, dry skin, feeling too cold, and poor height growth (in kids, I think this is actually much more reliable than weight gain) are the most common symptoms of undertreatment. Menstrual irregularities can be a common sign in pubertal girls.

The importance of daily dosing: Confession: I’m a terrible patient myself. However, this is often because I question the advice I am given (I’m sure some of you can relate!). But with Cameron’s medicine, I haven’t missed a day yet. This is because I know that in young children (ages 0-3), having adequate thyroid hormone is incredibly important for growth and the development of a normal brain. Realizing that C’s future may depend on my consistency with his medicine is very motivating, and so I actually make a note of his dose (amount and time) every day.

Dosing note: I also make sure patients know to give it in a fairly small volume (ie syringe mixed with breastmilk or formula, not the whole bottle) and to avoid giving it with soy or vitamins. I’m happy to say that crushing tablets and mixing has been pretty straightforward after telling patients to do this for many years!

Maybe it’s not the best diagnosis. I worry now that perhaps I may have said the wrong thing to new parents. The “best” diagnosis would be something that was sure to go away. The blood draws and daily medications may not seem like much from the MD side, but it’s much more of a big deal as a patient or parent — I understand that now! However, it’s also not the worst. I am very thankful that the technology exists to allow for what I essentially see as complete treatment for the condition. I have no doubt that Cameron (along with all of my Congenital Hypothyroidism patients!) has every bit as much potential to live a long, happy, and productive life as any other child. This is probably what I will emphasize to patients when I discuss the diagnosis now — that it’s something they will have to deal with long term, but that their little one has every opportunity to thrive.

by Dr. Sarah Hart-Unger

Dr. Sarah Hart-Unger is a board-certified pediatrician with a specialty in pediatric endocrinology. She earned her medical degree from Duke University School of Medicine in 2007, and completed her residency in pediatrics and her fellowship in pediatric endocrinology at Duke University Hospital.  She has received numerous awards and honors, including Ruth L. Kirschstein National Research Service Award, National Institute of Diabetic, Digestive and Kidney Disorders (2011-2013), the Dr. William Bell Award (2010), and the Eli Lilly Travel Award for Pediatric Endocrine Society Meeting (2013).  She currently resides in Florida with her husband and 2 beautiful children.  You can find Dr. Hart-Unger’s blog at the Shu box.