Congenital Hypothyroidism and Thyroid Resistance: A Story About Heart

One of the amazing things about volunteering with MAGIC Foundation and about starting this blog is all of the amazing parents I have met.  I am very excited to introduce you to my friend, Julie Lopez.  She has very openly and honestly written this guest blog post for Thyroid Mom so that you can learn more about congenital hypothyroidism and about thyroid resistance.  It’s so important to understand that not everyone’s journey with congenital hypothyroidism is the same.  We can all learn from each other.  Thank you, Julie, from the bottom of my heart for sharing your story about David’s journey.~Blythe aka Thyroid Mom

My son, David, was 5 days old, and we showed up at his scheduled newborn checkup. The pediatrician our daughter usually saw was not in that day, so we were meeting with a new doctor. She was very pleasant. She had a genuine smile. I felt no reason to be concerned. She introduces herself and asks how I was doing. She asked us if the state health department had contacted us about David’s newborn screening. I said no. From that moment, I don’t remember much. I remember her finishing her exam and saying David looks great, but we needed to leave her office and head to the Children’s Hospital for blood work. It needed to be done now rather than later. So we left the office and headed to an outpatient lab for the nearby Children’s Hospital. We were told he could not get a heel stick and that it was more accurate via venipuncture. He honestly did not cry. It was as if he did not even know it was being done. We go home. I am honestly not worrying at the moment. I just had a baby, and also taking care of our daughter. I am not 100% myself. I honestly do not remember when the call came, but the pediatrician herself called that evening. It must have been past 7pm, because I was surprised how late it was. We get confirmation that something is indeed wrong. It is true David’s TSH levels were indeed elevated (400s) and his FT4 was barely there. My heart sank. She told us that David had congenital hypothyroidism. We were told to be at our local Children’s Hospital at 11am the next day.

I knew absolutely nothing about congenital hypothyroidism. As a nurse one would think I would know. It is even in the pamphlet that they gave me when the newborn screening was done at the hospital. I never really paid attention to that pamphlet as I was honestly too tired from giving birth. I knew about thyroid issues in adults as I have Hashimoto’s myself, but I never really thought about babies being born with thyroid disorders.

At the time of diagnosis I was not a maternity nurse. I was working with adults on a medical/surgical/oncology floor. I never once told the pediatrician on our initial visit that I was a nurse. I felt it was irrelevant. Being a nurse does not make being a mother any easier. I share the same fears and concerns as any mother would. I wanted to be treated like a mother not a nurse. I could tell the pediatrician was trying her best to explain the night she called confirming his diagnosis. I finally told her I was a nurse. She was able to use terminology I am familiar with. Where nursing has helped me is I understand medical terminology, know how to research what I need, and have access to wonderful medical research articles.

So, maybe my medical background did help me in some ways. However, my biggest issue with my son having congenital hypothyroidism was acceptance. We were never in denial, really, but it is hard to accept something you know little about. With me it was guilt. Just like every other mother who has been through this, I cried the night his pediatrician called. I am sure I was being more emotional than normal since I was only 5 days post partum. I had extreme guilt because in my head I was blaming myself. It was my job to protect our unborn child while he grew inside me. I felt like I had failed and my heart ached. I even voiced my concern to my OB doctor about the need to check my thyroid levels more often during pregnancy. She said there was no need as my initial prenatal labs showed my thyroid levels were normal. As a nurse I felt ok with that, and to this day I am ok with that. Should they have been checked more often? Yes, they should have, but that is irrelevant. No one is to be blamed for what David was born with. I still see my OB/GYN with full confidence. Working as a post partum nurse, I have learned this is not a point your finger kind of blame.

I eventually began to make peace with these feelings, but our journey with congenital hypothyroidism became more difficult as David grew. When David was almost 2 years old, we had to increase his dose AGAIN! We did have acceptable labs prior to that, but his TSH kept rising. His FT4 was already on the upper end. I understand that his FT4 will be in the upper limit, because he is being treated. As a nurse I understand why, so I was never worried about that. So we went with the dose increase. He is not even 2 yrs old and now takes 100 mcg a day. It did not take long for his little body to say it was too much. At this time I had been working as a post partum nurse, so I was used to listening to infant’s heart rates and noticing when they are in distress. Yes, he was a toddler but any nurse or mother would know when a child’s heart is in distress. Sitting at the table eating breakfast I could see his heart pounding away. I have seen a lot but this was unreal. I grabbed my stethoscope out of my work bag and listened. His heart was working way too hard. I called the nurse who works with our endocrinologist. I knew before I called we would need labs. Results were not good. Ft4 is too high, but his TSH was still high. We all know as parents of children with congenital hypothyroidism that the brain needs to be protected. Treat the TSH. Protect the brain. I was so stressed out. He NEEDS his medication, but his heart is screaming NO! So we went with alternating doses. We tried the 100/88, but his heart said no. We are now at 100/88/88. “Resistance” was introduced to us when he first needed that increase to 100mcg. It was not until he had his heart rate issues that they decided to test for thyroid resistance. I was told that it was unlikely the common test for resistance would actually test positive. It took almost 6 months for him to get the actual diagnosis.

I wish I could define what thyroid resistance is. You can Google it. It honestly does not describe what David is going through. I did my research. Research describes adults. David’s pediatric endocrinologist says he fits the perfect thyroid resistance patient. The best way I can explain it from what I have been told is his brain does not respond well to the medication. He requires more “juice” to tell his brain to stop producing TSH. He is the little engine that could. The treatment is the same. Treat the TSH. Protect the brain. As of now his heart is tolerating the dose. As he grows, we are sure his dose will change. How I explain thyroid resistance is there is a barrier in communication or lack of understanding. The brain is simply resisting the medication. It does not understand it needs this medication. It means that David’s thyroid disorder is more complicated that what other babies with congenital hypothyroidism experience.

Further complicating the issue for David, when we were waiting for David’s results for thyroid resistance the endocrinologist wanted to see what David’s thyroid looked like so she ordered an ultrasound. Once the tech finished up she mentioned she needed to have the radiologist view the image to make sure no more scanning was needed. As a healthcare professional, I knew something was abnormal. Technicians are not allowed to give information out and I have sat through ultrasounds many times to know that when you get the doctor something is up. The radiologist came in and asked a little more about David. He began to tell us no thyroid tissue was found. They began to scan up towards the upper neck area. Nothing. It seems David was born without a thyroid. I was a bit taken back by this, but it did not bring more concerns. I knew it meant David was going to take a little pill the rest of his life.

David is doing well, now, though. Overall, I am feeling optimistic. He will be three this Christmas Eve and we all know how important it is to get treated before three to protect the brain. This summer has been nothing but joy for us. He is my heart and my joy. He is starting to act like a typical two year old. He is behind on speech compared to those he is around but he is catching up. He is doing his development on his terms. Is it related to his congenital hypothyroidism? I think not, as I know many other children who grow and develop at a similar pace. I think we have a stubborn laid back son. As for the future, I do still worry. We get labs soon and that makes me anxious. Are the last two labs too good to be true? He has grown some, so I would not be surprised if he needs a higher dose. I will be scared if we have to increase his dose, because I worry about his heart. But as he grows, his heart grows stronger so hoping he will compensate. I am very thankful to have support groups that show us we are not alone in this battle. We were all told if we had to have something this is the best as it is easily treated. With us it was not easily treated, but he will live a long life despite of this. I understand why we are told that. So many other diseases shorten the life expectancy. However, I wish doctors would not say that so lightly. We are still parents and these are our children. Heart and compassion should be given all around. Compassion is why I am a nurse. I hope that by sharing my story, I have helped you understand more about congenital hypothyroidism and thyroid resistance.

By Julie C. Lopez, Guest Blogger for Thyroid Mom