Congenital Hypothyroidism: Olivia's Story

I gave birth to pre-term twin girls and their stay in the NICU was pretty much uneventful. After a few long agonizing weeks we were finally allowed to bring them home. Of course we were worried about everything under the sun with our new infants, Olivia and Natalie. After all, it wasn't like we had no experience at this but it had been awhile. Babies don't come with instructions, but I figured I'd remembered everything from rearing my two grown children. We raised our children and twenty years later we had our "empty nest" babies, as my husband puts it. Amusingly, my daughter and I were pregnant together. So you'd think I should know the ropes of infant rearing. Things actually went pretty smoothly (if you could say that) for the first two months, except for the three-hour sleep increments I had to get used to, and a few other visits to the hospital for minor ailments.

Imagine my surprise when, one day I got the news that one of the babies had thyroid deficiency. They call it congenital hypothyroidism or CH. Click here to read about hypothyroidism in infants. Initially I didn't think it was THAT bad until I spoke with the physician about it. What? It does all that? I began to panic. I wondered what I had done wrong to cause such an ailment. She assured me it wasn't my fault and this happens in about one out of every four infants. I was told that every infant is screened for it so that it can be treated early. In my baby's case, it wasn't detected until she was two months old. Because CH affects IQ points, I worried about that too. Also at around this time the physician noted a smaller than normal cranial circumference. Okay, if that didn't grant me the "most worrisome mother" award, then I don't know what would as I was probably the most qualified contestant at the time.

Soon Olivia was referred to a specialist in a major city at a childrens hospital. The nurse there was very empathetic with all of my questions. She sent me literature through the mail to help with questions I may have had. I was so worried after reading about this that I demanded that Natalie be rechecked as well, and her results remained within normal limits.

We were instructed by the endocrinologist that our baby would have to endure painful blood draws every two months for her first year. Then decreasing it to every three months until she is three years old. At that time they can give Olivia a trial period of withholding her medication. Because the infant brain is developing and forming at such a high rate in the first three years of life, it is important the brain receives the thyroid hormone for proper development. So they feel it is safer to wait until a child is three years old before doing any trial withdraws.

They prescribed for my baby a little pill that I had to crush and dissolve in water and administer with a syringe. It wasn't too bad but I was already giving her crushed, dissolved Prevacid due to her diagnosed reflux disease. Both girls were already seeing a gastroenterologist. So what else? We later learned that our baby Olivia is also in the grey zone for fragile-x syndrome. The gene responsible for fragile-x has expanded in her case, but has not fully mutated, and it hasn't expanded enough to really consider her a carrier, but studies are still being done to understand this gene mutation entirely, but thats another story. So, here I was, overtired and no family in the local area to help me out while the twins' dad went to work. The reflux complicated matters and I became frustrated. It was very important that my infant receive her daily dose of thyroid replacement therapy, but sometimes I ended up wearing it. I cried in despair. I did a lot of crying back then. Not only was I alone, I was dealing with medical issues I had never dealt with before.

By the time the girls were 6 months old, they were being visited by ECI (Early Childhood Intervention), for speech delays. I was overwhelmed with all these issues at hand, but relieved that I had two therapists coming to my home that would be able to help me help my girls.

Eventually the endocrinologist ordered a thyroid scan for Olivia to detect if she had a thyroid and if she did, what was its size, and where was it located exactly? The good news was that indeed a thyroid gland is present, but it had not entirely migrated to the proper location during her embryonic development. But this was good news because it gives us hope that this condition just might not be a lifelong sentence for our precious little girl. The worse case scenario is that she will depend on this little orange pill every day for the rest of her life.

At Olivia's 9-month visit with her endo specialist, he noted something about her pituitary gland maybe being small sized. Olivia has a high palate which can be indicative of pituitary disorders. He announced it matter-of-factly and told us not to worry. Okay, now wheres that "most worrisome mother" award?

The most gut wrenching heartache through this ordeal are the moments my baby is forced to lay on the exam table crying out in fear because she senses its going to be unpleasant. The lab technicians at the local lab in my small town aren't well versed in drawing blood from infants, so we manage the best way we can. Sometimes she gets poked in both arms two or three times. These are the only times I ever hear such a desperate cry out of my baby, who normally rarely protests anything. I am leaning over Olivia in hopes of somehow comforting her, while wiping away her large tears. Her eyes roll up in her head as they poke the needle around in her arm hoping to locate a viable vein. I cry along with my baby who by now must be thinking this world is a very torturous place. Unsure whether to feel anger at the ladies who hurt my child, or to feel grief for my child, I swipe her up and let her know its okay. I'm her savior until next time and the process repeats itself. She made huge milestones in early memory development thanks to this experience. If you think babies lack long term memory, think again.

My twins are now two years old and we are still coping with congenital hypothyroidism in Olivia. The reflux has waned and both girls have been released by the gastroenterologist. It rarely flares up anymore. Olivia's head eventually caught up with the rest of her body, and she is highly intelligent, just as her sister is. They say both girls are tall for their age so I'm relieved at something finally going right. ECI continues to work on the girls' speech, which is coming along quite well these days. I think Olivia will have permanent primal fear of doctors offices, as her early experiences have already been embedded in her memory. I no longer have to dissolve her medication because she happily accepts it like a piece of candy and chews it up like a big girl! Things have definitely gotten easier since infancy, yet there are always new challenges to conquer in toddler hood. I thank the Lord each and every day for putting these precious little bundles of joy in our loving care, and we live life one day at a time and appreciate all that life has to offer.