Matthew’s Story

Matthew was born at home following an uneventful pregnancy and after a 45min labour, he came out feet first (we didn’t know he was footling breech) Surprise!

The first 12 days went fine except he would twitch a bit when falling asleep. Numerous midwife and health visitor visits reassured me it was nothing serious although when we were admitted to hospital due to losing 10% of his birth weight, on the ward I showed the doctor the twitching and she confirmed they were seizures. An urgent MRI, Lumbar puncture, ng tube and antibiotics were done, luckily confirming it wasn’t the meningitis they suspected but sadly confirming Matthew had two bleeds on the brain, they expect from his quick and upside down birth. We left the ward a week later being told a neurologist would tell us more but they couldn’t say if he would be a average child and he would possibly be delayed.

After 3 further months of fighting to get him to feed, he was diagnosed malnourished and fitted long term with an ng tube and we saw the neurologist who blew us away with the fact the bleeds were not the cause of Matthews issues of floppiness, poor feeding, poor vision, poor hearing, poor social interaction but that he thought it was genetic. He noted inverted nipples, poor fat distribution, cross eyes and sent some blood off for testing.

When Matthew was 6 months old we went to sign some paperwork to start a CAF (basically a meeting to get all professionals together) and was hit with the bombshell that they had diagnosed Matthew with Congenital Disorder of Glycosylation. Type unknown.  Expected 1A with his symptoms. To be honest the diagnosis was a relief to know what had happened the hardest bit was finding out it’s a 1 in 3 chance to happen every pregnancy.

In the next six months we found he had a heart murmur, fat spheres on his kidneys, his liver function is abnormal and he has optic nerve hypoplasia (poor number of nerves), he has poor muscle tone everywhere and I mean everywhere.

Matthew is now almost 3, about 2 years ago he had a skin biopsy confirming he is type 1A, he still cannot sit or stand. He cant grab a toy or hug you. He cant say words but can say mama and dada although its more of a ma ma ma ma :). He is now fed through a tube in his stomach firstly with a PEG now a Mini Button. Although he is now taking some fruit puree but this has been a long road. Hes a typical toddler obsessed with the Ipad. Hes a social little bunny and has an incredible smile.  He has just started school and seems to be thriving there.

We are still at a very early road with him and we thank whoever is upstairs for every year we have with him.


Have you got a story like Matthew’s?


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