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Gastro - Macrocephaly ? Help please

5 replies

HollyandLaike · 16/01/2025 18:41

Hi to all the parents out there!
Thankyou for even reading this. I'm lost. I'm a new mum but I immediately knew something was wrong with my boy.
Fast forward 6 months, he has a diagnosis of Macrocephaly, Diastasis Recti, Umbilical Hernia, GERD, Colic, Milk Allergy and now Precocious Puberty.
My 6 month old has pubic hair.
I have been fighting to prove that there is something else they are missing as he can be inconsolable for hours, struggles to sleep and stay asleep. Has an awful cough and sounds like he smokes 40 cigarettes a day but his lungs are apparently clear. Sweats profusely when he is in distress. Has outward directing eyes. Burps for England even with infacol, struggles to pass gas and can be in agony for hours and when he passes it, it is with extreme force like its trapped or kinked inside.
Doctors, Paediatricians and Consultants have all played it down, like I'm the one with the issues and that my son isn't really that bad. I have struggled for 6 months alone, (no partner or father as he is a donor baby and I've wanted this for years) I have no family either and my friends say that he is a bit to 'extra' for them to mind him. I don't begrudge them for it, as my son can be hard to handle but also just a small amount of empathy is to much to ask from them. He has never been away from me for more than 3 hours and i rarely leave him anyway, its been very hard to say the least but my boy was my choice. What I'm hoping to get from this thread is if there is anyone out there that's had any of these issues with their babies, or are in the same boat themselves, I would love to hear from you, I'm hoping someone, anyone could shed some clarity on what I need to keep doing, fighting and even a possible syndrome that could explain these issues and that I'm not completely alone in this as I'm really feeling deflated and more alone than I ever felt before.

Again thankyou for your time,

Holly and baby Laike

OP posts:
Are your children’s vaccines up to date?
minipie · 16/01/2025 23:12

This sounds tough, I’m sorry, you sound like a lovely and loving mum though.

Who have you seen? Has anyone mentioned any genetic testing or other possible reasons?

HollyandLaike · 17/01/2025 02:39

Awh thankyou that's very kind!
We have seen a Paed Neurosurgeon, Ultrasound and CT scans and awaiting an MRI now. Little man has had full bloods done, including Endocrine bloods were just waiting on results for those. We have seen the respiratory team consultant at Sheffield children's, X-ray done but lungs were clear, he has also had the sweat test for cystic fibrosis. Currently waiting to see the Gastroenterology consultant at Sheffield. We have a SALTS assessment in 2 weeks time due to possible aspiration.
Genetic testing has not been mentioned once. And they have given me nothing to what they are looking for as 75% of the above I have pushed and pushed for and with every new scan or test We are finding more ailments.
Can't help but worry and think that these must be linked or connected somehow, but to what extent I have no idea.

Thankyou for commenting :)

OP posts:
glittercunt · 17/01/2025 02:42

He needs genetic testing. It sounds very much to me like something diagnosable is wrong. Please push for genetic counselling. I'm so sorry he's so poorly. Have they scanned his intestines to see if they're elongated or tortuous?

HollyandLaike · 17/01/2025 02:54

Thankyou GC! Amazing name!
I will certainly push for the genetic testing now, having to constantly fight the system and doctors who think they are right and I keep proving that there is more to this is bloody exhausting! They have not scanned his intestines either, but again it's something I will keep in mind and mention thankyou! Honestly thankyou, anything at all is huge for us because most times they make me feel like I make it up.

OP posts:
minipie · 17/01/2025 14:05

That’s good he’s had endocrine tests done - if they show anything unusual (ask to see the results yourself and check against the normal ranges) then ask for an endocrinologist referral. I hope the gastro referral is helpful.

And yes do ask for genetic screening. You can get this privately but at a cost so try the NHS first! Ask any hospital specialist that you see - I don’t think GPs can order it.

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