Although Newborn Screening Awareness month has passed, it is and will always be something that I will talk about on my blog. The key to saving children with congenital hypothyroidism is newborn screening. I am honored to share a personal story from Jessica Wade, a friend and fellow blogger, who I met through the MAGIC Foundation’s private group for parents of children with congenital hypothyroidism. Her story is one of pain and heartbreak but also of hope and change. Jessica and I share a desire for more research, better screening standards and overall improved care of children with congenital hypothyroidism. You will learn from and be inspired by her story.
Why is newborn screening for Congenital Hypothyroidism so important?
Getting diagnosed early usually leads to a good outcome. Newborns who are diagnosed and treated in the first month or so usually have normal intelligence. Even untreated MILD hypothyroidism can lead to severe intellectual disability and growth problems. The nervous system goes through important development during the first few months after birth. Unfortunately, lack of thyroid hormones can cause damage that cannot be reversed and could lead to autism, like it did for my son, Micah. The link between autism and congenital hypothyroidism is why newborn screening matters.
Micah was diagnosed with Congenital Hypothyroidism at 31 months old. After over 2 1/2 years of unexplained medical issues and growth problems, we took him to a doctor for a second opinion and he was re-screened. The results revealed that he had a TSH value of 11 and almost non-existent Free T4. Thankfully, because we refused to just “wait-and-see” like his pediatrician suggested, he finally began treatment. After my second son was diagnosed with Congenital Hypothyroidism in June of 2012, I set out on an unexpected journey to find answers to questions I had about my family and childrens’ health.
First, we found out Micah’s TSH at birth was a value of 30 but due to newborn screening cutoffs in Michigan, his pediatrician wasn’t notified of any problem. Micah is an autistic child who slipped through the cracks with a TSH value of 30. You see, the newborn screening program in Michigan uses only TSH values as it’s primary method of screening for Congenital Hypothyroidism. At the time I began my research, here were the cutoff values for Michigan:
So, of course, I had questions and naturally I wanted some answers. How could this happen to my son? Why did this happen? I wanted to know details, and if I couldn’t get them from my child’s doctors I would find them myself.
My research journey started with a PubMed article, Performance Metrics After Changes in Screening Protocol for Congenital Hypothyroidism and a dissertation written by an epidemiologist in Michigan entitled, Impact of Protocol Changes in Michigan Newborn Screening for Congenital Hypothyroidism on Screening Performance Metric. In the PubMed article, Dr. Korzeniewski concluded: “Tandem T4 and thyrotropin (TSH) screening outperformed other strategies for detection of both classic and central CH combined, although it is associated with increased operating costs. Additional research is necessary to weigh the benefits of increased sensitivity against additional program operating costs.”
What? Operating costs? Michigan knew they would miss some children with their choice of screening? This only left me with MORE questions….What exactly does a lack of hormone do to the neonatal brain? Is the damage truly irreversible? Is this something that he could grow out of? What tests should he undergo? Out of all the questions I had, l the one question that REALLY weighed on my mind was this one:
It may be too late for Micah….but what can be done to prevent this from happening to other children?
Be the Change:
So, instead of wondering…I took action. I wrote a blog post in March and posted it to MDCH Facebook Page and they responded almost immediately.
“In light of this case, we will further evaluate our screening data since 2003 to see if we should adjust our cut-offs to detect more borderline TSH elevations and how would this affect our false positive rate.”
They even contacted me directly by phone and since then, I’ve had nothing but support from Michigan’s newborn screening manager, Bill Young. He listened to my son’s story and was very kind as I told him of Micah’s struggles and assured me he would try his best to improve Michigan’s Congenital Hypothyroidism screening program to reduce the risk of this happening again.
Most recently I received a message from Michigan’s newborn screening manager with an update on the status of our plea.
He had good news and bad news:
Good news: He wrote, “After reviewing 10 years of data it looks like the best way to select newborns for further follow-up is to use a percentile (such as the highest 1% of TSH values) for each days screening and separate the NICU newborns from regular nursery newborns for determining the highest 1% in the regular nursery. The lab agrees with the percentile approach and I will present the data at our next meeting with the endocrinologists.”
Bad news: He wrote, “I looked at Micah’s screening day and under this algorithm (1% positive and NICU separation) he would have been called positive for that day.”
What Will Be:
I figure if my son had to sacrifice his growth, development, and voice in order to save many other children from going through the same struggle, so be it. He made a difference. He made us more aware of Congenital Hypothyroidism and thankfully, his little brother Eli, who also has Congenital Hypothyroidism, is 2 years and 3 months old and is doing quite well on 45mg of Armour and meeting all milestones and beginning to string words together into sentences thanks to prompt and appropriate treatment for Congenital Hypothyroidism. Before Micah, we didn’t know there was a link between autism and congenital hypothyroidism, and we certainly didn’t realize how important newborn screening is.
Although, we don’t have a date as to when a change will occur in Michigan’s newborn screening program, we know it’s in the process and that, for us, is a victory!
Still, we will continue to be advocates for thyroid health and spread awareness of undiagnosed Congenital Hypothyroidism so no child will have to suffer like Micah did.
By Jessica Wade aka “Mama Genius”, wife, mommy, neonatal & adult thyroid health advocate, runner, and blogger at MicahBoyGenius. You can also find MicahBoyGenius on Facebook, Twitter, and Instagram. | #CH #NeverWaitAndSee