I had no concerns with Maia as a baby. She fed and put on weight, and developmentally she excelled, walking at nine months and out of nappies at the age of two. She never seemed to have any problems eating or learning to talk. Looking back now, the only thing out of the ordinary was that she would only ever sleep propped up. I used to swaddle her and prop her up until she was almost sitting. It was the only way she would drop off, or she slept in the crook of my arm propped up on my shoulder, following the guidelines for safe co-sleeping with a breastfed baby. When she got big enough to go into a normal cot she just grew out of this. Now I think she struggled to breathe lying flat when she was very small so had to sleep propped up.
When she was three she experienced an episode of respiratory distress and was rushed into hospital by ambulance. In the hospital she was given nebulisers and steroids in addition to being prescribed an inhaler to be used at home ‘just in case’. She was diagnosed with a viral induced wheeze. For the next year she seemed to just cough constantly. The inhaler never seemed to help and we were always going back and forth to the GP. They tried her on daily antihistamines saying it could be allergies but these also didn’t seem to help.
Just before her fourth birthday all of my children were unwell. I was checking their throats for tonsillitis when I saw a huge lump in her throat. It looked like a third tonsil coming up from behind the back of her tongue. I hadn’t ever seen it before because it was only visible when she stuck her tongue out. When she put her tongue back in it disappeared back into her throat. I took her to the GP who told me it was a cyst which was harmless so didn’t need any treatment. However, that was when I realised her cough seemed to be much more of a gagging than a wheeze. It was also worse when she was crying as well as when she went to bed. If she got upset at dinner time she would gag until she vomited onto her plate. She would constantly toss and turn all night but fall asleep as soon as she was in the car as she was upright. I went back to a different GP who said it was not a cyst at all, but rather her epiglottis (a flap around your throat to protect the windpipe) and couldn’t possibly be the cause of her gagging and coughing. He said some children just have a larger epiglottis than others and that means it is sometimes visible.
I took Maia back to a third GP along with her middle brother, who I had also taken previously with throat related concerns and been told it was nothing to worry about. I begged for a referral to the children’s hospital. She agreed to refer them both to Ear Nose and Throat (ENT) but not for the concerns I had. She said Maia had a cyst and that maybe it contributed to gagging when combined with large tonsils. I thanked her and was so happy to be finally getting them seen by a specialist and at the hospital I had confidence in.
Referral to ENT
Just before Maia’s fifth birthday we saw ENT who said it was most likely a cyst and they would probably remove it as it was probably causing her symptoms. But, as procedure they had to do a neck scan first to make sure her thyroid is in the normal place in her neck. In very rare cases it could be ectopic thyroid tissue. In these cases, it would normally be in addition to the thyroid gland in the neck and wouldn’t be doing much.
We went for the neck ultrasound expecting it to be perfectly normal because of how rare he had said it would be for her to be missing her thyroid gland. The sonographer told us in amazement as he did the scan that he could find nothing there – no thyroid gland in her neck at all.
A couple of months later she went for an MRI scan under general anaesthetic and I did a home sleep study. We have been back to her doctor who has diagnosed her as having a lingual thyroid which is an abnormal mass of ectopic thyroid tissue seen in base of tongue. The MRI confirmed the diagnosis. It also reassured us that it doesn’t appear to be causing any significant obstruction to either her breathing or her swallowing and her sleep study was also positive.
The doctor was visibly excited when telling us her diagnosis. He said that it’s one of those conditions that you only ever read about because it is so rare. He compared himself to a fisherman catching a rare fish. They are going to keep seeing her for regular check-ups to keep an eye on how her thyroid is working. She is at a slightly higher risk of developing thyroid cancer, however, the risk is so small. Therefore, it would not be worth removing the mass and leaving her needing to take hormones for the rest of her life. I’m so proud of her. On top of her own health battles she is a young carer to her disabled brother. She helps me a lot, and she just does it without thinking about her own challenges.