Today, the 7th May would have been our daughter’s 7th birthday. We are welcoming birthday donations in her memory for the charity, who, like many others, are struggling with the fundraising deficit caused by the covid19 crisis. 

Ava’s story

Our little girl Ava was born on the 7th May 2013, completing our little family. At a tiny 6lb 11oz, to us she seemed like a little dolly with a mop of dark hair. 

In her first few days, Ava was sleeping a lot, not waking for feeds, her temperature was low and her tongue was slightly protruding. After a check over and some time in an incubator, they said they didn’t feel there was any problems and we could go home. 

As the months went by, Ava was a lovely baby and many people fell in love with her. Her brothers doted on her, but she had a very special bond with 4 year old Ryan. 

But mummy had a niggly feeling that something wasn’t quite right. Doctors however, said she was fine. Eventually, Ava developed severe reflux and a milk intolerance. It also became apparent that she was not tracking with her eyes. Ava was diagnosed with under-developed optic nerves and we were told she was essentially  blind with only light perception. She also failed her hearing test and began gaining weight rapidly. Basic genetic testing began but nothing was found. 

By 5 months of age, Ava began having twitches which was the early onset of epilepsy. Then, 2 days before Christmas in 2013, aged just 7 months, Ava had her first serious seizure and they came in full force, occurring at least every half an hour. With each seizure she stopped breathing and turned grey. They lasted up to 10 minutes. Each seizure doing more and more damage and we couldn’t stop them. For us her family, this was the most terrifying and heartbreaking development.

As doctors realised the seriousness of her condition, Ava was admitted to hospital - first Dewsbury, then the LGI. She had brain scans, eegs and more detailed genetic testing. We were told she was unlikely to reach adulthood. Finally, in February,  a test result came back. Ava had a very rare genetic condition called Congenital Disorder of Glycosylation. This is a condition that affects the function of every cell in the body and is life limiting. The doctors here had never encountered it before as it is so rare - around 800 worldwide we were told. There are many subtypes of the condition and they needed further testing to find Ava’s. 

In February, after 2 months of Ava and mummy staying in hospital, we were finally discharged home to begin a life that was completely different to the one we had left with. Forget-me-not hospice became involved before we left hospital. From then, they gave us weekly visits where they supported us as a family and allowed us a little break. They gave all 5 of us respite stays at the hospice in Russell House, Huddersfield. There, they provided emotional support for us and helped us make special memories together. They also gave invaluable support to Ava’s brothers. It was truly a wonderful place with the most caring staff. More importantly, it meant that we didn’t have to spend any more time apart - when her symptoms were bad, they could deal with it there, rather than having to return to hospital again. 

On 29th April 2014, Ava deteriorated rapidly and was basically in  a constant seizure. So we returned to Forget-me-not for a final time. During the next 24 hours,  Ava slipped into a coma and took her last breaths in our arms at almost 11pm on the 30th April. It was exactly one week before her 1st birthday. The staff at forget-me-not helped us bath her and dress her, whilst also making sure the boys were ok. They provided us with the snowflake suite which has a cold room allowing  families to stay together for extra time. 

The support from forget-me-not continued after we lost Ava with bereavement counselling and sibling counselling. We are eternally grateful for the support they gave us and will never be able to thank them enough. 

To date, No other person has been matched with Ava’s specific condition - our little lady truly was one in 8 billion!