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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Any parents here with a child who got kernicterus as a baby?

4 replies

ymotanasyerg · 30/05/2021 21:32

Hi never posted in this area of mn before mainly left my children out of it. But anyhow I have a 3 year old boy (4 in July) who is under a lot of specialists- pediatricians/dietician/speech therapy the list goes on. He is awaiting an autism/adhd assessment, but the thing is he was born with quite severe jaundice (came on within 12 hours of being born) and no matter how much I pushed they didn’t actually test his bilburin levels until 5 days old- once he had stopped waking for bottles/ couldn’t wake him/ and anytime he was awake it was this heartbreaking high pitched squeal. When the bilburin blood results came back he was borderline needing a blood transfusion, but they opted for the less invasive phototherapy light instead, after 3 nights on it he improved. Now I only decided to look up online after-effects of jaundice as a newborn because whenever we saw a new/different pediatrician they always seemed quite intrigued in me explaining in detail about him having jaundice as a baby. Sorry trying to keep it short as possible while covering everything I can- so when googling the word ‘kernicterus’ came up so I done as much digging as possible (roughly over the last 5/6 months) and he seems to be ticking all the boxes to him maybe getting this and this is why he is the way he is now (and not actually autistic) bottom line is can I just bring this up in the next pediatrician appointment and ask if there’s a way to investigate? I must add I understand that children can end up severely disabled with this, so I am incredibly lucky in many ways. Thankyou if you’ve made it this far!

OP posts:
douliket · 01/06/2021 00:18

Hi
I am sorry to hear that your little boy is having some difficulties. I am of no help as I have never heard of that condition before but absolutely feel free to print off what you have found about it and show to paediatrician. Most doctors actually do like to be pointed in a certain direction. I hope you get answers soon for your boy x

Rex1412 · 10/06/2021 13:43

Hi @ymotanasyerg my ds had jaundice within eight hours of birth. He didn’t receive light therapy until over a day later, he had fed once in that period. The following day he was moved to intensive care as bilirubin level had when up instead of down. He left hospital on day six, follow up paediatrician appointment and six weeks and given all clear. Fast forward to now: 2.4 very poor speech and language development, poor understanding and the thing that makes me link it to Kernicterus is poor development of teeth, he is still missing lots of teeth and only got his first two teeth 14months. I hope this is helpful and I hope you find answers for your son x

ymotanasyerg · 10/06/2021 20:08

@Rex1412 hi thank you for your comment, yes teeth was one that stood out for my son too- not only did they take a much longer time then my other children to come through, he’s also had to be put to sleep in hospital and had 6!!! teeth removed in December just gone due to poor enamel- regardless of the fact he doesn’t have a high sugar diet (very restrictive eating) and we brush his teeth every morning and night (although a massive pain due to his sensory issues that have him gagging and crying every single day!) I still haven’t received a letter regarding my next appointment with the pediatrician, for some reason I feel quite nervous bringing it up as if they’re going to shut me down and tell me I’m being stupid. Sorry to hear about your little one, is he/you getting any help/support from anyone?

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ymotanasyerg · 10/06/2021 20:09

@douliket sorry I never replied to you I have just this second seen your comment, thank you for your kind words means a lot

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