This is Phoebe. If you saw us walking down the street, you’d think she was a normal 6 month old baby. In reality, she is a 14 month old who has a very rare condition that has completely changed our family’s life, but she is the most gorgeous little girl with the most beautiful smile and the longest eyelashes you have ever seen!

We knew from the moment Phoebe was born that something wasn’t right. She was born by emergency section on 23rd December 2022, just in time for Christmas at 37 weeks. The pregnancy had been normal, she seemed healthy and was a good size. However from the minute she was born she was shaking and very rigid. Within hours she was taken away to neonatal intensive care and connected to an EEG. She was very sensitive to noise, even inside her incubator the sound of someone clicking a pen at the other side of the room made her jump. Then at 11am on Christmas Eve she had her first seizure, and our journey truly began. She was started on anti epileptic medication straight away. The next days and weeks were a blur of blood tests, MRI scans, lumbar punctures and EEGs. Everything was coming back normal, but all the while Phoebe was having up to 8 seizures a day and not responding to treatment. She was unable to feed and was deemed to be nil by mouth due to an unsafe swallow and was fed through a NG tube. I never realised how much I had taken for granted the closeness and bonding I had felt while I had fed Phoebes brothers and sister, she is the youngest of 6, until it was something I couldn’t do.

The doctors then spoke to us about a possible genetic cause for what was happening to Phoebe. No one else in the family had ever had any seizures so we didn’t think this would be the cause. The first round of tests again came back normal. Thankfully our neurologist pushed for another more detailed genetic test that was not readily carried out. This was our last chance of getting a diagnosis, if this was normal then we just wouldn’t know what the cause was. Then, when she was 12 weeks old, just 2 weeks after she came home from hospital,we got the call from our neurologist to say they had finally found something. We were happy that finally we had an answer and would know what we were dealing with and how we could make her better. The next day we had a meeting with our doctor and a geneticist. We were told she had GRIA3, a very rare condition, she had inherited from me, she was only 1 of 20 known people in the world to have what she had, only the 4th girl and the youngest ever to be diagnosed. They didn’t really know how it would affect her other than it had caused her epilepsy and would cause developmental delay. Our world fell apart! There was no cure, there was very little known about how this would affect our daughter and what could be done to help her.

She was started on fycompa straight away and this was a game changer. As the dose was increased the frequency of her seizures reduced. She got a G-tube fitted and changed to a dairy free, ketogenic diet and then slowly started to put on weight. Finally, things were looking brighter!

Almost 1 whole year since we got Phoebes diagnosis, we have had many ups and many downs. We have learnt to take each day at a time, that Phoebe will do what she can, when she can and to celebrate every little win. She can still be very rigid; she has limited movement in her arms and very rarely will move her legs. She hasn’t reached any developmental milestones yet, but her seizures are quite well controlled with the fycompa and ketogenic diet. She can eat puréed food by mouth now but still can’t cope with liquids, they go through her tube. She is very small, only just starting to wear 6-9 month clothes. (I’m not complaining, it’s been nice having a snuggly baby for longer!)

Despite everything she has been through she is a very content and happy little girl whose smile makes even the worst of days worthwhile. We are truly blessed to have her in our family.