Baby Madeleine was born in Massachusetts in 1991 – the second child in her family. When her parents got a call that her newborn screening was positive for congenital hypothyroidism (CH), they didn’t know what to think. They didn’t know that babies born with CH can’t produce enough of the essential thyroid hormone, and that if left untreated they could have developmental delays or intellectual disabilities. They were about to learn everything they needed to know to prevent their new beautiful daughter from having any of these negative effects. Madeleine is now 22 years old.
This is an interview with Madeleine’s mother.
Had you heard of newborn screening before your daughter was born?
I don’t remember being aware of any screening, although in the back of my mind I must have known that somehow there were conditions that had a test. I remember reading about a few rare conditions, like PKU and cystic fibrosis. However, I definitely had not heard of hypothyroidism. I didn’t know what it was.
When did you get the call that Madeleine’s results were abnormal? What was that experience like?
I got the call about eight days after Madeleine was born. It was the Friday before Easter, around 4pm, when the doctors’ offices were about to close. Our pediatrician, Dr. Robert Thomas, called and immediately I knew something was odd. He started off by telling me that he had just received the results of the newborn screening and that she was positive for a condition called hypothyroidism but that it was eminently treatable and that I shouldn’t panic. At the time I didn’t really know what hypothyroidism was and all I could think of was that it was related to Down’s syndrome. But the doctor quickly set me straight about that and said that if she had to get anything, this was easier than any other condition.
Did you see any signs that something was wrong before that?
Madeleine as a newborn was very different from my first child. She would sleep for five to six hours in between feedings and, when she did nurse, she would projectile vomit afterward. I was a little concerned but knew we had a two-week visit with the pediatrician coming up.
What did the doctor tell you to do? What did he tell you about the condition?
The doctor explained hypothyroidism to me over the phone and, while he couldn’t tell me what had caused the condition in Madeleine’s case, he did say that there was a replacement hormone they would give her that would make up for the deficiency and that her mental ability would not be affected which was my main concern. He also set up an appointment for Monday morning with the pediatric endocrinologist at our hospital so that we could start the process of getting her on track right away.
Were you familiar with congenital hypothyroidism? Did you do any research between when you received the call and finally saw the doctor?
I was pretty ignorant about congenital hypothyroidism. All I knew was the information that the doctor had given me on that Friday. This was in 1991, before we had a computer and before most people had internet in their home, so I was not really able to do any research over the weekend. However, I got a lot of information from the endocrinologist when we saw her on Monday. At the time, I don’t think anyone knew how much of a thyroid Madeleine had, so we were still wondering if it was something that would go away over time. Later in the week, they did a nuclear scan at the hospital, and I don’t think they were able to see much tissue.
How did it feel to get this information?
It was pretty overwhelming at the time. It was all within a two-week period after I had given birth so I was pretty hormonal and at one point broke down in tears in the pediatrician’s office. But everyone was so cheerful and reassuring that we got over it and just figured we would do what we had to do. What was really most reassuring was that the doctors assured us she would have a normal intellectual ability, which was our biggest concern.
What was your daughter like as a baby? What was she like as she grew up?
Madeleine was a happy, cheerful baby. She reached all the milestones that parents look for in good time, and by the time she was a toddler was able to sit calmly to get her blood tests to check her thyroid levels which was amazing to the phlebotomists. She was a foodie from an early age. Our friends would remark that they had never seen a toddler who loved guacamole! She still loves to cook and was always a fruit and vegetable eater. She was good in school and recently graduated magna cum laude from Mt. Holyoke College with a degree in Biology. She has started a job as a research assistant in a lab at Boston Children’s Hospital and hopes to go to med school in two years.
It sounds like she is very successful and is leading a great life – Do you often think about what might have been? Or have you put it out of your mind completely?
We really don’t think about it anymore since Madeleine’s thyroid levels have been so stable all these years. She has been responsible for taking her pill every day. We don’t worry too much because even if she misses a day or two, she can make it up and it doesn’t affect her. She is now responsible for getting her own blood test and seeing the endocrinologist once a year; every visit is pretty uneventful. We are lucky to be living in a time when science has been able to control this condition.
How do you feel about newborn screening now? Do you tell other expectant parents about it?
We are grateful that newborn screening was in place in Massachusetts and that we were able to catch this so early. If it had not been caught and she had gone three or six months or even longer before the problem was diagnosed, we don’t know what the outcome might have been. We were also very grateful to Dr. Marvin Mitchell and Rosalie Hermos at the newborn screening lab who reached out to us for a parent group and a conference when Madeleine was little. We took a tour of the lab and saw the great work that was done there, and they gave us so much information that we felt very reassured. This is a very valuable service to new parents, and we do tell other parents about it when the occasion presents itself.