Congenital Hypothyroidism in Babies: Sloane’s Story + A Parent’s Guide to Diagnosis, Newborn Screening & Treatment

A Personal Guide for Parents

Like many other pregnancy journeys of lucky parents, ours seemed pretty typical. 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.

So when her diagnosis of congenital hypothyroidism came, we were absolutely shocked. I’ll be honest: It was overwhelming at first (even as a nurse). 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 fantastic lives.

Sloane’s diagnosis was identified 4 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 and overall physical development

• Brain and nervous system development (especially critical in the first 3 years of life)

• Metabolism and energy use

• Body temperature regulation

• Heart rate and cardiovascular function

• Muscle strength and tone

• Digestion and gut motility

• Bone growth and maturation

• Hormone balance and endocrine system signaling

• (so ya, a lot of things!)

Early signs and symptoms of congenital hypothyroidism can include sleepiness/low energy, poor feeding, jaundice (yellowing of the skin and eyes), constipation, a hoarse cry, cold hands and feet, a puffy face, and an umbilical hernia (weak abdominal wall and poor muscle tone, hypotonia). In our situation, Sloane was a bit cooler to the touch and had a hard time regulating her temperature, she also had a low resting heart rate (on ultrasound during pregnancy, 90-110), which is below the typical range (130-160bpm), and I believe her diagnosis was caught early enough that she did not develop more severe signs or symptoms.

If CH is not caught early, thyroid hormone deficiencies can lead to developmental delays, stunted growth, and potentially worse (we won't go there). Early detection through newborn screening is crucial. And if patenting isn't humbling enough, Sloane’s journey has taught us so much in the process!

What Is a Newborn Screening Test, & Why Didn’t These Conditions Show Up During Pregnancy?

I was asking myself the same question! And I am assuming you are too. After all, pregnancy involves many ultrasounds, lab tests, and checkups designed to monitor your baby’s health.

So how could something important not show up?

The truth is that many conditions can’t be detected during pregnancy because they affect how a baby’s body functions after birth rather than how the baby physically develops in the womb. Ultrasounds are excellent at identifying structural differences, but they often cannot detect certain hormonal, metabolic, or genetic conditions that only become apparent once a baby is born and their body begins functioning independently.

*In some cases, more advanced testing during pregnancy, such as amniocentesis, can detect certain conditions earlier. For example, congenital hypothyroidism may sometimes be identified by measuring elevated thyroid-stimulating hormone (TSH) levels in the amniotic fluid around the 22nd week of pregnancy. However, procedures like amniocentesis are invasive and carry risks, so they are typically reserved for pregnancies considered higher risk and are not part of routine prenatal testing for most families.

Because of this, many babies who are later diagnosed with conditions like congenital hypothyroidism appear completely healthy throughout pregnancy and at birth. That’s exactly why newborn screening exists, to identify certain rare but serious conditions early, often before symptoms appear, so treatment can begin right away.

What Exactly Is a Newborn Screening Test?

A newborn screening test is a simple medical metabolic screening test done (18 - 48 hours) after a baby is born to test for these hormonal, metabolic, or genetic conditions. Each state in the US 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 Congenital Hypothyroidism Is Diagnosed?

Once we received confirmation from Sloane’s lab results (yes, she did in fact have congenital hypothyroidism, and her TSH and T4 levels were completely off the charts), treatment started right away.

Sloane was prescribed Levothyroxine, which is the standard and most effective medication used to treat congenital hypothyroidism in infants. Levothyroxine is a synthetic thyroid hormone that replaces the hormone the body isn’t producing enough of.

Most babies start on a standard starting dose, which is exactly what our pediatrician did for Sloane. Early treatment is extremely important because thyroid hormone plays a major role in brain development, growth, and metabolism, especially during the first few months of life.

During the first month, we stayed on that starting dose and closely monitored how she was doing. After that, we began monthly lab draws to track her thyroid levels and make sure her medication dose was appropriate as she grew.

The Reality of Giving Medication to a Newborn

Now I’m going to be honest with you, getting Sloane to take her medication wasn’t exactly a walk in the park.

At first, we were prescribed the tablet form of levothyroxine, which meant we had to crush the pill and give it to her ourselves.

And honestly? It was a challenge (even for me as a NICU / Peds nurse).

We tried everything:

• Mixing it with a tiny amount of milk

• Adding it to her bottle

• Even trying to give it through a nipple

• I didn't have my typical IV or OG tube to put it down

The problem was that during her first week of life, Sloane was only taking about 10 mL of milk at a time, which is basically the size of a walnut. Because she could only tolerate such small feeds, it made giving the medication really difficult.

Sometimes it took 20–30 minutes just to get her to take the full dose, and even then, she wouldn’t always finish it. Between the taste of the medication and the tiny volume she could handle, there were definitely moments where it felt like a real struggle.

What Made Things Easier: Switching to Liquid Medication

After a week, we were able to switch Sloane’s medication to a liquid formulation made by a local family owned, trusted compounding pharmacy, and it made a HUGE difference.

Giving her medication became:

• Faster

• Easier

• Much less stressful for everyone

If your baby is diagnosed with congenital hypothyroidism, it may be worth asking your pediatrician or endocrinologist if a compounded liquid version of levothyroxine is an option.

One thing we learned along the way is that not all compounding pharmacies prepare medications the same way, so it’s really helpful to find one your doctor trusts. We were fortunate to work with a pharmacy recommended by our pediatrician, and having the liquid version made our routine so much smoother. (This is the "do your research PSA part of the blog")

How Often Are Doctors' Appointments and Lab Draws?

The frist year, Sloane saw her Pediatric endocrinologist once a month, and her pediatrician once a month. (Yes it can be a lot of appointments, especially if you add lactation specialists or any other things that pop up). Each time we visited, they assessed her weight, head circumference, height, feeding intake or new food introductions, energy levels (based on our knowledge), and labwork (which we had drawn the week prior). TIP: always have the lab draw first! That way, you can have results with the Endocrinologist or Pediatrician. (The labs can take a few days to process. They like to track these values closely. 

For lab testing, she had labs drawn once a month for the first year. Babies grow a lot that first year so close attention to their levels is important. Currently, we draw her labs every 2-3months (as she is 1+ years and we have her levels pretty dialed in.

Tips and Tricks for New Parents

1.Take Notes

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. 

2.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: 

3.Pre-lab draw feeding: Milk just before a feed made 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! (As she got older, we made sure to do lab draws in the morning. Get them done earlier in the day, have her drink her sippy cup of water on the way, and get it done before nap or cranky end of day shennnigans. On occasion, we have her BMP (basic metabolic panel) drawn as well, and that is preferred fasted. So we make an early appointment and do it first thing.

4.Medication same time each day! On an empty stomach. (Easier said than done). The beginning was difficult to time between feeds, but as she grew, it became easier. We aim to give her medication around 8-9 am each morning, one hour before breakfast. The liquid form is sweet and she has learned that it is part of the routine. I have her participate now, and help me draw it up or become part of the process to give her some ownership.

5.Find a lab or doctor's office that draws Infants well! 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.

6. Warm the injection site: While holding Sloane in the waiting room, we tried to apply a warm pack to the injection site. You can use a Warmie or a heated stuffed animal to help increase a baby's circulation. Use cautiously, don't overdue it, but a little warmth can go a long way. (Many labs use cold packs for older kids and adults. For babies (especially with CH), warmer is better (take it from your NICU nurse).

7. Numb the site: If your baby needs frequent blood draws (like many babies with congenital hypothyroidism do), anything that can make the experience more comfortable is worth considering.

One option is EMLA cream, a topical numbing cream that many hospitals use for pediatric patients before procedures like blood draws or IV placements. It requires a prescription, so you would need to ask your pediatrician if it’s appropriate for your child.

However, during our journey, we also discovered a company called Thimble, founded by Dr. Manju Dawkins (physician and mom). Her mission is to help make medical procedures less painful and less scary for patients, something I can absolutely get behind as both a nurse and a mom.

We’ve personally used The Prepare Patch, which is designed to help reduce discomfort from procedures like:

• Blood draws

• Injections

• IV placements

The patch contains 4% lidocaine, which helps numb the skin and make procedures more comfortable. It’s easy to apply, comfortable to wear, and doesn’t leave the mess that sometimes comes with creams.

For families navigating frequent labs or medical procedures, tools like this can make a really meaningful difference in helping reduce both pain and anxiety. Do whatever seems to work best for your baby. This is definitely a trial-and-error experience!

8.Buzzy Bee trick 🐝: If you don’t already know about the Buzzy Bee, let me just say, this is also a game-changer for lab draws. I would help hold Sloane, and Jacob applied 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.

9.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

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

• Heated surfaces: Sloane’s mini heated pad was a Godsend. We would wrap her up in it after bath time, bring it with us on overnight trips to make sure she’s comfortable or just let her fall asleep on it. (Caution, not medical advice. This was done with supervision and not for long periods of time. We would use this as a little extra warmth during fall/winter months).

• 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! 

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 captures images of the thyroid gland to assess its location, size, shape, and function.  

For us, Sloane hasn’t had her radio-nucleotide uptake scan yet. Her Pediatric Endocrinologist likes to do them around 2 years of age (unless absolutely clinically needed).

A Final Word to Parents Walking this Journey

If you’ve made it this far in the blog, chances are you’re either navigating a congenital hypothyroidism diagnosis yourself or trying to learn everything you can to support your baby. I want you to know something important: you’re not alone in this.

When Jacob and I first heard Sloane’s diagnosis, we felt overwhelmed, scared, and honestly a little confused. How could something like this happen when everything during pregnancy looked completely normal? But what we quickly learned is that early diagnosis truly changes everything.

Thanks to newborn screening and early treatment, babies with congenital hypothyroidism can grow, develop, and thrive just like any other child. The beginning may feel like a lot, lab draws, medication routines, and appointments, but over time, it becomes part of your rhythm.

Today, Sloane is happy, growing, and doing beautifully. Watching her thrive has been the greatest reminder that this diagnosis does not define her future.

As both a NICU nurse and a mom, I’ve learned that sometimes the scariest moments in parenthood are also the ones where we discover just how resilient our babies and we as parents can be.

So if you're in the early days of this diagnosis, take a deep breath. Ask questions. Lean on your pediatrician and endocrinologist. And give yourself grace as you learn this new routine.

You’ve got this. And your baby does too.

With love,

Tori

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.