OUR STORIES

Freya

Freya was born June 2010, she was happy and healthy and always such a good girl. As she grew she amazed me everyday, everyone would say what a good girl she was and she was: she never cried, she was excelling in all aspects, always a good eater always bubbly always happy. I’m a young mother, I was 18 when I had Freya, I think because of this I was always a worried parent, she’s my only child and I was always over protective. I finally moved her from my room into her own bedroom, and she was happy sleeping there and always slept through. One night when she was 9 months old our lives changed forever. I gave her a bath and tucked her into bed. About 3 in the morning she screamed, a scream I will never forget. She had her first seizure. Somehow staying calm I called an ambulance. When they arrived they told me not to worry and that children can have febrile convulsions. Freya seemed fine, they took her into hospital and she seemed ok.

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I went to get some water and when I came back she was having another seizure, she had wires all over her, nurses sticking needles in her hands, and an oxygen mask over her face. still I stayed calm.  I knew I had to be there for my little girl, but I knew by the look on the doctors’ faces that there was more going on than a febrile convulsion. She was admitted, and in the first 24 hours she had had over 40 seizures, they just wouldn’t stop. The doctors tried everything. They put her on meningitis drugs just in case. She turned into a new born baby: She couldn’t eat, she couldn’t drink she just lay there helpless.

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More testing followed. For her first lumbar puncture (taking fluid from the spine), they told me not to go in so I sat and waited. Suddenly, half way through she had a massive seizure, and alarm bells rang throughout the ward. Doctors came running from everywhere, there was a panic I hadn’t seen before, I knew it was Freya. When the nurse came and told me it was the only time I broke down. I couldn’t face not being there, so they let me in and I sat and talked to her while she carried on fitting. They were trying to get the needle out of her spine, 20 minutes and they still couldn’t stop her seizing. The oxygen mask wasn’t enough. Her stats were so low. It was the moment it reality hit me that I might lose my baby girl.

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Finally, after over 30 minutes they managed to stop it. The same day they sent her by ambulance to Bristol Children’s hospital  for more tests. From EEG’s to MRI scans, and they couldn’t give me any answers. She started to improve and the seizures had become less and less, and finally they stopped. After a month in hospital and countless seizures she was finally discharged.

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After this first cluster Freya had changed. She had learned to crawl in the hospital so she had developed her mobility, but unfortunately her speech had completely regressed: she had stopped making sounds. There was a point I never thought she would get it back. Then she started to have infantile spasms (West Syndrome) which doctors said was the cause of her regression. She had a strong steroid treatment, which stopped the infantile spasms, but not her clusters of seizures. I never thought I would get answer, but I always tried. I had to be Freya’s voice and I didn’t want to let her down, I couldn’t let her down. She had been through so much, she was always so brave.

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Freya is  now 3. Last year, we finally got the diagnosis of PCDH19. Having an answer changed our lives. It doesn’t change the fact that she fits, the times she is in hospital with a cluster are hard. She fights so hard and it breaks my heart she has to go through this battle. But I know how amazing my little girl is. Having her diagnosis has given us access to talk to parents going through the same things. We can share our experiences and never feel alone. I learn about the other parts of PCDH19, not just the seizures. As she is growing up I am seeing more and more of the learning delays and behavior issues the girls face everyday. I also see how intelligent she is at problem solving and drawing.

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Freya surprises us everyday. She lost her speech and over 2 years ago and she is slowly regaining sounds. She is learning sign language and even when she has a cluster of seizures, her speech is lost but her ability to sign remains. She inspires everyone she meets and is always happy and always trying so hard. My little princess has shown me how strong and brave she is and now nothing is impossible. I know she is going to continue to grow and surprise us every step of the way.

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( Freya’s mum )