Congenital Hypothyroidism 101

💖 Sloane's Journey with Congenital Hypothyroidism: A Personal Guide for Parents

Like many other pregnancy journeys of lucky parents, ours seemed pretty normal. The ultrasounds were routine, the checkups didn’t raise any red flags, and there weren’t any signs that anything was out of the ordinary. We were excited and hopeful while preparing for the arrival of baby Sloane.

When the diagnosis of congenital hypothyroidism came, we were absolutely shocked. I’ll be honest: It was overwhelming at first. How could something so serious not have shown up during the pregnancy? Jacob and I wrestled with fear, uncertainty, and a thousand questions. But we quickly learned that early diagnosis is EVERYTHING. Thanks to newborn screening and early treatment with thyroid hormone replacement, babies like Sloane who are diagnosed with congenital hypothyroidism can go on to lead completely normal lives.

Sloane’s diagnosis was identified four days after she was born, through standard newborn screening — a routine blood test completed for every newborn. As a NICU nurse, I had completed hundreds, if not thousands, of newborn screening labs at the bedside. I never realized just how much the routine testing would affect my little family.   

Even with all of my clinical experience, the emotional shock of going from a “normal” pregnancy to a serious diagnosis is something I’ll never forget. It taught me and Jacob that even when things seem perfectly fine, hidden conditions can still exist — and that early testing truly saves lives.

Below, I’m going to answer a few frequently asked questions about congenital hypothyroidism to help new parents who may be struggling. I’m also going to share a few tips that I’ve learned during our journey with the condition to help your first few weeks and months go a bit more smoothly.

🌸 Congenital Hypothyroidism: An FAQ for New Parents 🌸

What Is Congenital Hypothyroidism (CH)?

Congenital hypothyroidism is a condition where a baby is born with an underactive or missing thyroid gland. The thyroid is a small, butterfly-shaped gland in the neck that makes hormones important for growth, brain development, and metabolism. 

Early signs and symptoms of congenital hypothyroidism include jaundice (yellowing of the skin and eyes), sleepiness/low energy, poor feeding, constipation, hoarse cry, cold hands and feet, puffy face, and an umbilical hernia. In our situation, little Sloane was a bit cooler to the touch and had a hard time regulating her temperature.

If it’s not caught early, thyroid hormone deficiencies can lead to developmental delays. However, over the course of Sloane’s journey, we’ve learned that with early detection and treatment through newborn screening tests, she’ll be able to live a full, healthy life!

👶🏼 What Exactly Is a Newborn Screening Test?

A newborn screening test is a simple medical test done shortly after a baby is born to check for certain serious but rare health conditions. These conditions may not show any symptoms at birth but can cause serious problems if not treated early. Each state has different conditions that they test for. You can find out more about your state’s unique newborn screening test here. 

The test usually involves:

• A small blood sample taken from the baby’s heel (called a heel prick)

• Sometimes a hearing test

• A heart screening for certain conditions

If CH shows up on a newborn screening, the goal is to find and treat any issues as early as possible to help the baby grow and meet all developmental milestones. Usually, treatment starts immediately after confirming the findings with thyroid stimulating hormone (TSH/T4) lab testing. 

💊 What Happens After CH Is Diagnosed?

Once we got the lab test confirmation, Sloane was started on levothyroxine, the go-to medication for babies diagnosed with congenital hypothyroidism. There is a standard starting dose for all babies, which is what our pediatrician started Sloane on.  We kept her on this standard dose for one month, and after that, we began monthly lab draws to track her thyroid hormone levels and make sure we were on track.

Now, I’m going to be real with you—getting Sloane to take her medication wasn’t exactly a walk in the park. At first, we tried to crush up the pill form of the medicine and… yikes. We went through so many different attempts to get her to swallow it: mixing it in the tiniest bit of milk, in her bottle, and even trying a nipple... It was a challenge because she was only taking 10 mL at a time, and that made it so difficult to get her to take her meds. Sometimes it took over 30 minutes to get her to finish, and she would still leave some behind! 

We got really lucky to work with a great compounding pharmacy that made her medication in liquid form. If you’re in the same boat, I HIGHLY recommend finding a pharmacy you trust to make the liquid version, if possible. Not all pharmacies are good about making it consistent, but we found one that our pediatrician recommended, and it made all the difference. 

🧪 I’ve Heard of Radio-Nucleotide Uptake Scans Being Used for CH. What Are These? 

A radio-nucleotide uptake scan — sometimes called a thyroid uptake scan or thyroid scintigraphy — is a diagnostic test that uses a small amount of radioactive material (usually radioactive iodine (I-123 or I-131) or technetium-99m) to evaluate how well the thyroid gland is functioning. After injecting the radioactive material, a gamma camera takes images of the thyroid gland to check its location, size, shape, and functioning.  

For us, Sloane hasn’t had her radio-nucleotide uptake scan yet. Her doctors suggested waiting until she is around a year old because she needs to stay still for a good scan, and let’s face it—getting a tiny baby to do that without sedation is a no-go! 

Also, from our endocrinologist’s perspective, she’s not too concerned about the cause of Sloane’s CH right now because it doesn’t change the plan of care—so, it can wait.  However, if your specialist thinks it’s necessary, definitely go with their recommendation.

🩺 How Often Are Doctors Appointments and Lab Draws?

Sloane sees her endocrinologist once a month and her pediatrician also checks in on her monthly. Every time we visit, they’re looking at her labs, weight, head circumference, and height. They like to track these values closely. 

For lab testing, we’re still on a monthly lab draw schedule for now, but the hope is that we’ll move to every other month soon.  I’m not going to lie, finding a good lab for baby’s blood draws took a little bit of trial and error. Not all labs are great with little ones, and we had to be extra picky about where we went. We found one we loved, but we were even looking into concierge lab draws in case we didn’t find a good fit.

Tips and Tricks for New Parents

📝 Take Notes of EVERYTHING

After Sloane’s diagnosis, I started taking notes at every doctor’s appointment and lab draw. I keep a detailed record of our endocrinologist’s words of wisdom and advice, along with the projected plan for the foreseeable future. I keep a copy of all important phone numbers and Sloane’s insurance card with these notes as well, so that I have all of her important medical information in one place.

Trust me, it’s a lot to take in, especially in the first few weeks and months. Coupled with all of the other challenges of new motherhood (breastfeeding, postpartum changes, etc.) I wanted to make sure I remembered everything correctly. 

🩸Find Lab Draw Tricks That Work For Your Baby

Lab draw appointments can be stressful for parents and babies. Having a few tricks up your sleeve makes the whole experience less traumatic for everyone. Here are a few things that REALLY work for us: 

• Pre-lab draw feeding: Milk just before a feed makes Sloane a little drowsier and happier than she would be otherwise. Plus, it helps hydrate her and plump up her veins so that the blood draw is more successful!

• Warm and numb the injection site: While holding Sloane in the waiting room, we always apply a warm pack to the injection site. Some parents like using numbing cream (usually Emla) as well to make the needle insertion less painful. Do whatever seems to work best for your baby. This is definitely a trial-and-error experience!

• Buzzy Bee trick 🐝: If you don’t already know about the Buzzy Bee, let me just say, it’s a game-changer for lab draws! I help hold Sloane, and Jacob applies the Buzzy on top of the injection site—it combines a little vibration and cold, which distracts from the pain and makes the whole process way easier for her.

• For Babies With CH, Comfort Is Key

Babies with congenital hypothyroidism are sensitive to temperature fluctuations, so you’ll want to make sure you can keep them cozy and comfortable. Sloane loves:

• Warmer temperatures: We generally keep her room thermostat set between 68–72°F (20–22°C)

• Soft layers: I’m talking cozy onesies, swaddle blankets, etc. 

• Heated surfaces: Sloane’s heated blanket has been a Godsend! We bring it with us on overnight trips to make sure she’s comfortable, no matter where she sleeps. 

• Massages and skin care: CH can cause dry skin in babies, so we’re really mindful about the detergents and skin care products we use with her. Our favorites right now are LINKS

• Endless cuddles: Babies with hypothyroidism often have a quiet temperament and love cuddles all day, every day! For me, a comfortable baby carrier has been a GODSEND for the days when Sloane simply won’t let me put her down! 

You’ve Got This, New Parents!

I know dealing with a diagnosis like this can feel overwhelming, but trust me—if you’re a new parent trying to take everything in, you're doing amazing! Jacob and I have learned through this experience that raising a child with special medical needs truly takes a village. Even though I was a NICU nurse for years, I’m still learning how to handle the stresses and challenges!

Remember: early detection and treatment are key, and with the right care, your baby can thrive. Don’t hesitate to reach out to your pediatrician and endocrinologist with any questions. You’ve got this, and your baby is in great hands!

Tori Meskin, MSN, RNC-NIC, has been a passionate NICU clinician since 2012, specializing in acute care and inpatient neonatal settings throughout Southern California. Board-certified in neonatal intensive care, she also brings extensive experience as a travel NICU nurse. Tori is the co-founder of NICUity, a modern resource hub empowering NICU professionals with hands-on tools, education, and community support. As a mother, wife, and entrepreneur, she shares her journey balancing life at the bedside with motherhood, marriage, content creation, and building a brand. Discover her latest tips, tools, and insights at www.tipsfromtori.com or reach out at abbysocialmgmt@gmail.com.