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‘Her world had completely stopped and with that her spark and smile had faded. I was extremely worried. I reached out to the BDFA to ask for help.”

Mum Kirsty tells her story of her daughter Ava Bella’s diagnosis of Batten disease CLN6 through COVID19 lock down.

Ava Bella was born on the 22nd June 2011. A beautiful little girl. I was delighted. Ava was a happy little girl and everything seemed to be going okay, until Ava started to have seizures back in March 2020.

Seizure! The first sign…

We were sent back and forth to doctors’ appointments and had no idea what was going on with my beautiful little girl. We were first seen at Watford General who did not know why Ava was having seizures and losing skills. We were then referred to Great Ormond Street, where Ava continued to have more tests. We finally found out what was going on with Ava, my little girl was diagnosed with CLN6 Batten Disease. Our world fell apart.

The world stood still…

Not only were we dealing with Ava’s diagnosis, we were in lockdown. We could not see family, who we are extremely close with and Ava was not at school. She was losing skills rapidly and I was concerned about her mental health, as she was not seeing friends or teachers that she loved. Her world had completely stopped and with that her spark and smile had faded. I was extremely worried. I reached out to the BDFA to ask for help.

Working with the BDFA

We were allocated Sian as our Support Worker and our saying became ‘we will get there’. We had a team of people fighting for Ava, myself being Ava’s biggest cheerleader, Sian from the BDFA, Laura Lee from GOSH and Danni the Head Teacher of Ava’s school. Every six weeks we met and set a list of goals to work on. Ava had been out of education for over a year, our first goal was to get her into a school that was suitable for Ava and her ever-changing needs. We also wanted a social worker as I needed help with caring for Ava. Everything was a challenge, but we kept on battling through.

Back to school

Ava is now eventually at a special needs school where she is happy and they are able to meet her needs. We now have an allocated Social Worker, after four referrals. We are now in our our new flat, which is ground floor; we are awaiting a new bathroom for Ava.

Ava’s health has been up and down, we went through a stage were Ava was unable to eat and she lost a lot of weight. She now has a gastrostomy, which is helping and she now relies on a wheel chair permanently.  Ava continues to enjoy music and singing; she has recently been on the Dave McGovern single and looks like an absolute Princess on the cover.

We are a loving and supportive family, and that gets us through the darker days. We know we have support around us and that keeps us fighting. Most importantly, Ava is smiling again and that’s what matters.

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