“Life is not easy now and we are in a maze of different professionals, we feel over whelmed by this, and take life day by day.“
In January 2014, our baby girl Anna was born on the same day as me, her mum Laura. Anna was a perfectly healthy baby and we were delighted to welcome another baby girl into the family.
Around the age of two and a half years old, we noticed Anna had a squint, and she needed glasses for this reason. All of our girls had needed glasses for a lazy eye and this did not surprise us one bit. I was also worried about her speech as it was delayed. However, we were not overly concerned, as she was still young. By the age of five, Anna was really struggling at school. She found it hard to learn and retain information. If I was to ask her, ‘what day is it?’ She would make up answers such as ‘Monday’, even if it were Tuesday for example. I felt nothing I said ever stuck in her memory.
When Covid hit, home schooling was horrendous. Reading and writing was near impossible. We realised something was not right. I felt I was doing all of Anna’s work. We made a decision to stop and continue on our own learning path, making learning as fun as possible for us all.
We then noticed Anna started to stand close to the TV, and could not recognise family faces, we then knew something was seriously wrong. Anna would get off the school bus and go to the wrong family; she was sadly losing her vison.
We were going back and forth to Bangor-, we were repeatedly told, and ‘she is playing up today’. Anna would look away and say ‘mummy I can’t see it’. As her mum, I knew things were not right. They said there was nothing more they could do and the glasses she had were okay. Eventually we got an appointment to see an ophthalmologist this took a few months and on 2nd September 2021 we had an appointment.
They told us that day Anna was severely sight impaired and she had some sort of retinal dystrophy. They then took bloods that day to find out the cause of her sight loss. They said we would have to wait nine months, the longest nine months ever.
From that point, we were still going back and forth to appointments at Alder hay Children’s Hospital and each time he changed the diagnosis. Next on the list for Anna was, Cone Rod Dystrophy. We were so confused, and again we were told we had to wait for the bloods to come back.
We were sent home, this time with a job to get a Blue Badge for my little girl. I was in complete shock that I had to get a Disabled Badge for my little girl. When it came to using a disabled bay, I was not ready. I would drive by the space and park in the mother and baby spaces instead. It did not feel right. This was another reminder of what we were facing, and I would do anything to avoid it.
In October we had, a phone call from school, Anna had a seizure. It was terrible, the teacher could not control herself on the phone, she was in shock, and we all were. We went to the hospital but were sent home as they said it was her first seizure and hoped it was a one off. Weeks passed and Anna had another Tonic Clonic at school. We wondered what it could be, how could this be happening to Anna.
We arrived at the hospital but we were not allowed in; we sat in the ambulance due to Covid. After three Tonic Clonic seizures, we were finally allowed in. The seizures seemed to be coming on every hour and she was now onto seizure number four.
On the 18th December, Anna was diagnosed with epilepsy and even more bloods were taken. There was something with her eyes and epilepsy. I was trying to Google everything and could not stop researching. This is when I found the words Batten Disease; it completely matched what was happening with Anna. I spoke to my sister Llinos and we sent emails to professionals. Again, I was told to wait for the bloods.
The Professionals had not heard of this before, ‘Batten Disease’. Surely, it could not be that I thought to myself. However, In the back of my mind it made sense. I knew this was affecting Anna. I could not find anything else that matched.
On May 31st 2022, I went down to our letterbox and there was a letter from the hospital. I thought it must be a letter for an appointment. I opened the letter and my deepest fears were confirmed. In the letter it said it in, black and white, Anna has CLN3 Juvenile Batten Disease. This dreaded letter confirmed my own research. This was the worst day of our lives, we thought it was her eyes, and this was awful news, but it was Batten Disease, our lives shattered that day!
After this news, we felt completely on our own, ‘sort it out ourselves and nobody cared’. My sister came to help and she made appointments. My sister has been a brilliant help. We are a small family, but there is a lot of love and support.
My sister started to reach out for support and this is where we came across the BDFA. Since then we have met with Sian, Sarah and Mimi to receive support. We know we can pick up the phone and the BDFA are there for us.
Life is not easy now and we are in a maze of different professionals, we feel over whelmed by this, and take life day by day. What we do know is Anna our ray of sunshine, we remember this when days feel consumed by Batten Disease. Anna is joy, and our little girl.