Eve was born almost two years ago after an uneventful pregnancy and birth. She seemed fine.

When she was a few months old she had a funny breathing episode but that resolved by the time the paramedics arrived. When she was five months old, we noticed that when she was asleep her face would drop on one side, like she had had a stroke. I spoke to our health visitor who said that as both sides of her face rose when she smiled it was nothing to worry about. But we did worry, so when it continued with no improvement I took her to the GP. She had had a run of chest infections as well by then. He looked at the photos of her facial droop and phoned rapid admissions there and then and sent us to the hospital. They checked her over in A&E and made a referral to a neurologist and to have an MRI done. In the meantime I contacted Speech and Language Therapy as I was concerned about her swallowing and the chest infections. Someone came out to assess her and made an urgent referral for a video fluoroscopy, which showed silent aspiration, dysphasia. We left with a plan to thicken fluids to see if this would help. It took a few months to get the thickness right, but we got there and have had no repeat infections since June 2016.

We saw the neurologist a few months after the MRI; he declared it fine and would refer to Great Ormond Street Hospital (GOSH) for their input. This ended up taking six months in the end. Between the local hospital appointment and GOSH appointment were the development checks, which Eve fell behind on for speech and motor skills. We picked up referrals to audiology to check her hearing to see if that was why she wasn’t talking, and we saw a physio as she refused to weight-bear at all. It turns out she can hear fine and she started walking eventually at 18 months old so we got discharged from those departments.

At the GOSH appointment when she was 19 months old, I was fully expecting to be discharged as nothing had shown up on the MRI. It turns out something was on the MRI – Bitemporal subcorticol cysts and she has a large head. They didn’t know why so referred her on for genetics, metabolics, a viral screen in case it was CMV infection, an EEG and an EMG.

The facial weakness didn’t tie in with the MRI findings. So we left with more questions.

Since then, all tests have come back clear so far. No one has any answers for us. She is falling behind developmentally, is virtually non-verbal, and has been referred onto cardiology as well. The only thing I’m clinging to is that she is making progress, just slowly, and isn’t regressing.

We have an appointment very soon with genetics and will hopefully get some results from her blood tests done early in the year.

Eve is two years old soon and very loved and cherished. Whatever is going on, we will deal with it; I just wish I knew what we are facing.

She doesn’t fit anywhere with her symptoms so far. Toddler groups are getting harder as the gap between her and her peers widen. I don’t know anyone with her brain abnormalities, and people think that because things are coming back as normal on tests, everything is fine, but it’s not, we are just searching for answers with the little information we have.


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