Our Sweet Manna

Why I’m doing it

Our Sweet Manna 

Manna is 2 years old and is sister to an energetic and loving big brother Sage who is 4 years old.  

Manna came into this world on her own terms as she surprised us by bringing on contractions on the day of our booked C-section. After an emergency caesarean for my first, it was a very different experience, and on the 7th of the 7th 2020, out came a very healthy baby girl.  

When Manna was 5 weeks old, my world stopped as I witnessed her first seizure. Up until then, everything was going smoothly. She was a strong baby, holding her head up high since she was born, looking into our eyes and tracking toys intently. However, that Sunday morning, as I watched her peacefully sleeping, her eyes opened suddenly and her little body twitched methodically about 10 times. It happened again that afternoon and the next thing we knew, we were in the hospital Emergency Department watching her screaming as she was getting a drip put into her tiny body after several unsuccessful attempts. We were transferred to the children's hospital in the early hours of the next morning, not knowing this place would be Manna’s new home for the next several months.  

Thus started a series of hospitalisations where Manna would start a new seizure medication that seemed to work when first introduced, however, after a few days the seizures would come back again, often presenting worse than previously.  

After 5 months in and out of hospital and trying over ten different seizure medications, we were given the results from Manna’s genetic testing. Our baby daughter was diagnosed; they called it, CDKL5 Deficiency Disorder. We were told that along with severe intellectual disability, Manna may never be able to walk or talk. This also explained her uncontrollable seizures, developmental delay and visual impairment. Up until then, we almost convinced ourselves that Manna had some form of childhood epilepsy and that she would “grow out of it” in a few years’ time. Looking back now, I can see how her development was slowing down. Although at the time it was hard to tell, as she spent the majority of her time in and out of sleep due to the seizures tiring out her little body. This, along with the concoction of medications did drain the life out of her.  

It was not long after we received this diagnosis that I heard about the possibility of gene therapy in treating CDKL5. It is my hope that a cure is found, not only for a miracle for Manna, but for all those suffering from CDKL5 around the world.