Living with congenital hypothyroidism

Hannah's daughter Alice was born with congenital hypothyroidism (CHT), which was detected through newborn screening. Here, Hannah shares her story.

“Our second child came into the world in June 2012, a healthy 7lb 5oz baby girl with dark eyes and a mop of black hair who we called Alice. We took our tiny baby home, she was lovely, and those first days were wonderful. On day five the midwife came to check her over. There was some jaundice – normal enough for a newborn – and she had lost a little weight but nothing to worry about. The midwife commented that she seemed strong and alert.

“Alice barely whimpered when the midwife pricked her heel. The midwife told us that we would receive the results by post. I had looked into the heel prick test when our first child was born - we were given a leaflet in the hospital (the heel prick was carried out before we went home). I didn't do any additional research, but I remember reading the leaflet. I also remember that we were told that we would not hear from them unless there was a positive result, I was a little bit concerned about that at the time.

“This time I didn't even ask any questions. I had never met anyone who'd had a positive heel prick, I'd never even heard of anyone having a positive heel prick. I didn't even consider that it would happen to us.”

Referral to GOSH

“Alice was 12 days old when I received the phone call from my GP's practice. It was one of the senior partners and he was calling my mobile. He said that the heel prick test had picked up an abnormality with Alice's thyroid hormone. We were to take Alice to Great Ormond Street Hospital (GOSH) tomorrow. He was calm and reassuring, but all I could think was 'Great Ormond Street Hospital, it must be serious, tomorrow? It must be really serious.'

“Within half an hour GOSH called my mobile and confirmed the appointment for 9am the next day. They gave me some more information. Alice was suspected of having congenital hypothyroidism, they would do a blood test and a scan to confirm the diagnosis. They told me to read the information on their website, and to ignore the rest of the internet. It was great advice, which I wish I'd taken - reading about the condition online did nothing to calm my worries. It was a very anxious mum who boarded a rush hour train to King's Cross the next morning.”

Diagnosis

“At the hospital they took blood from Alice and put a cannula in her tiny hand. Everyone was lovely, and I knew we were in the best possible place. I was introduced to the clinical nurse specialist who would oversee Alice's diagnosis and care. She was superb, answering every question with honesty and compassion. By the end of the day Alice had been scanned and tested, the diagnosis was confirmed and she was started immediately on thyroxine, to replace the thyroid hormone she could not make.

“I went home dazed and clutching my precious little girl. As the shock receded I began to realize how lucky we had been. The nurse said that Alice was highly likely to be absolutely fine and to grow up completely normally, although she would have to take thyroxine for the rest of her life. I had researched the condition enough to know that without prompt detection and treatment Alice would not be fine and would be likely to have profound physical and mental disabilities. But Alice's condition had been detected, it could be treated, she would be fine."

“Now that Alice is on thyroxine, I am able to call the nurse whenever we have a concern. Alice has blood tests every two months at the moment, more if her blood tests don't show her thyroid hormone to be at the right level. We have a consultant appointment every two months too.”

Alice (hypothyroidism real story)

Looking forward

“Alice is now one year old. She is growing and developing like any other one year old, just as the specialist nurse told us she would. She is a lovely, sunny baby and is already walking and starting to talk. Managing Alice's hypothyroidism is now a normal part of our daily lives. 

“Every morning she has her thyroxine from an oral syringe. She is so used to the routine and to the taste of the medicine that she just sucks it down without complaint. Now that she is older we no longer have to worry about timing her feeds or about her throwing up her medicine.”

Follow up visits to GOSH

“Every three months she has her blood test at GOSH. It is never nice to subject your baby to a medical procedure, but the nurses who take the blood are so brilliant, quick and so caring that we rarely have more than a few tears. We have the option to use a numbing cream before she has the blood taken and that way we can be sure she feels no pain. 

“We also see the consultant or specialist nurse once every three months and they makes sure that Alice is growing and developing normally and that her blood levels of thyroid hormone are just right. Apart from one instance when Alice had too much hormone and was a little bit unsettled we have had very few problems. From now on we will only attend clinic every six months and have a phone consultation in between.”

Relief

“I feel such relief that Alice is doing so well and feel very lucky that she has had the best possible treatment at GOSH. Sometimes I still feel sad for her, that she will have to live with her condition for the rest of her life; then I see how happy and contented my little girl is and I think why be sad? Alice isn't, she is absolutely fine, and, like all babies, completely perfect in her own special way.

“Every time I look at Alice I remember that she is at the end of a long chain of people who all did their bit to save her. The midwife who took the sample and made sure it went to the right place; the lab technicians who tested the blood spot and found the needle in the haystack; the GP who promptly alerted us; everyone at GOSH who put Alice's wellbeing before all else and the screening programme itself. Without it – and the people who make it work – things would be so different for us, for our older daughter and for lovely little Alice.”

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