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Theo's Story

Last Reviewed 02/09/2016

By SWAN UK Member

I’m Adana. I’m mother to five amazing children!

We were told my youngest child Theo had Holoprosencephaly at our 20 week ultrasound. We were told he likely had Trisomy 13 and that chances of a livebirth were extremely slim regardless of T13 or not. I decided to do plenty of research on his condition and we had a nifty test which ruled out T13, T18 and T21. There was no other abnormalties detected during pregnancy although we had scares with growth restriction, high fluid and low heart rate.

On April 11th (my eldest daughter’s birthday also) Theo made his way into the world!

Showing no other issues apart from the Holoprosencephaly and two little marks on his head (focal facial dermal dysplasia) some facial abnormalities, and a little ear, we were discharged the following day. During the first few weeks of Theo’s life we discovered he was born without a thyroid gland and also suffered with diabetes insipidus (water diabetes). He had a microarray test which came back negative. Since then we’ve had the diagnosis of high muscle tone, reflux, developmental delay, faltering weight, eyesight issues and torticollis. He is always full of smiles though!

We are waiting on a list to be seen after a meeting with a genetics counsellor as I have driven myself crazy reading about different conditions, genes and everything else.

We're always looking for stories - get in touch if you'd like to share yours: info@undiagnosed.org.uk.

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