Our Angel Annabelle

Why I’m doing it

On 30th October 2019 our second daughter Annabelle was born. For the first three weeks of her life, everything was perfect. We couldn’t have asked for anything more. We had our two healthy children, a dog, food on the table and a roof over our head. 

Then, at three weeks of age Annabelle had her first seizure... 

Fast forward two weeks and we were in hospital with our baby girl not knowing what was wrong with her or why she was having these uncontrollable seizures. There were times in hospital I didn’t think she was going to make it, a feeling I wish upon no mother. Our neurologist spoke to us about doing full genome sequencing, this made absolutely no sense to me as my husband and I were not carriers of anything (we had previously been tested). The neurologist educated us on something called a DeNovo variant, where our child could have a genetic disease without us being carriers, a spontaneous mutation for example. Then, three months after the genome sequencing we received Annabelle’s diagnosis, CDKL5 deficiency disorder. 

We were told this disorder comes with drug resistant epilepsy, severe hypotonia, global developmental delay, cortical vision impairment, GI issues, feeding issues, respiratory issues, the list went on… We got told that our daughter may never walk or talk, and hearing this broke our heart. 

When we found out about gene therapy and the possibilities it shed so much hope and light on our situation. This would not only help our family, but families around the world! Life expectancy in this disorder isn’t great, and if our children do live to adulthood their quality of life is heartbreaking. All the CDKL5 children I have met have been smart, funny, and kind. They may not be verbal, and they may not be able to express themselves like we would, however everyone who meets them leaves being a better person then they were before. They all are beautiful children who deserve to live their life to the fullest! Every day, we hope for Annabelle, that a cure is found for CDKL5.