Ava-Rose’s Story

Ava was born at 35 weeks on 13 November 2014. She was born by c-section due to the effects that being pregnant was having on my body and kidneys! Other than showing extremely small legs on her final growth scan everything seemed ok and there was no immediate cause for concern.

When Ava entered the world she had some problems with her breathing so was whisked straight away from us and up to NICU; we then went on the neonatal journey through to HDU and SCBU.

The doctors were happy with everything medically with Ava. Their only concern was a skin lesion on her left temple so we were left with a referral and no major concerns.

At about four months old Ava had her first of many ‘episodes.’ She was overdue for a feed so we went to check her. Ava was lying in her cot twitching, very pale and to our horror completely unresponsive. Paramedics arrived and they were baffled as her oxygen, respiration and heart-rate were absolutely fine! They got her in the ambulance and off to hospital. By the time she was awake and alert and we were about half way to hospital she dropped again – her temperature dropped to 34 and the blue lights went on. The next minute, doctors were all around her, baffled as to why they were looking at a perfectly happy alert baby that had just been blue lighted in! It didn’t make sense!

From this moment on these episodes would happen around five times a week sometimes more. From about five to six months we started to notice that Ava was having vacant episodes. These happen around 20 times a day with some just ‘straight forward’ and others pretty complex.

We have spent a lot of time in different hospitals and seeing different doctors with Ava. This can get extremely confusing as many doctors have different opinions. Some days you don’t know what her medical plan entails.

One line that sticks in my mind is from a paramedic who said: ‘you tell me what’s happening, you tell me what needs to be done!’ When it comes to your child you are the expert and never think any differently. This never made sense to me until one day we noticed some unusual signs and my husband and I got her in the car to take her to A&E. By the time we arrived, Ava was unresponsive and had stopped breathing. She went down so quickly but she was in the right place. To this day we have no idea what caused her to do this and have been told we may never know.

Ava is a very bubbly, funny and happy girl. Her development has been delayed at times in certain areas. She seems to catch up and then would have a big episode which would set her back a fair bit, but she takes it in her stride and continues to learn what is lost again.

Ava is due to have some genetic testing, but until all other possibilities are looked into the hospital will not request them. Ava seems to be in pain daily but we have so far not been able to pinpoint where the pain is coming from. We are aware she doesn’t feel pain as another child would – she does not seem to feel external pain but internal pain can cause her to have multiple seizure-like episodes, while a huge egg on her head or a bash on her knee will make her laugh and sometimes try to do it again!

Living with an undiagnosed child is one of the biggest tests we have gone through as a family. We are unable to make firm plans as everything can change in seconds. The local paramedics now come in and make themselves at home and we are on first name terms with the majority of the children’s ward staff.

Would we change it? We would take all of Ava’s pain away if it was possible but we could never change her – she is our one of kind princess!

The future is unknown but what we do know is as a family unit we will make it the best we possibly can.

Ava’s older brother adores her and as hard as he has found the last two years to deal with, he has become so much stronger through it all. Some days I feel he knows more about Ava’s medical history than I do!

We found SWAN UK after speaking with Genetic Alliance UK about a birthmark Ava was diagnosed with at six months old. At first we thought the birthmark may have been the linkup but Ava’s consultants are not too sure so Ava became our swan.

SWAN UK has been such a huge support to all of us. The swan mummys and daddys in the Facebook group are so supportive, kind and a pleasure to talk to.

So many people out there are unaware of SWAN UK and feel isolated having a child with multiple problems but no answers! I find myself preaching about SWAN wherever we go now!


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