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24 Jun 2025 by Zoe Munce
Finding a Cure for Adeline
Adeline had her first seizure at 2 weeks old and at almost 5 years old has never had a seizure free day since.Due to the severe retractable nature of her seizures she cannot sit, stand, walk or talk, she has no functional use of her hands and is legally blind (cortical visual impairment).
Adeline suffers with a genetic disorder known as CDKL5 Deficiency Disorder (CDD). This is one of the most severe forms of epilepsy and has a devastating prognosis. The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development. It is one of the 'learning genes' and when it doesn't work properly, children suffer severe disability and retractable seizures, despite medication.
What does this mean for Adeline and our family?
Adeline spends much of her time lying on her back with very limited movement. She doesn't reach for her toys to play with, she does not look us in the face or smile at our voice. She needs support with every single one of her daily tasks from movement to eating to playing to hygiene to dressing. She also gets easily overstimulated and as a result, doesn't participate in many family activities outside of the home. She can not go to playgroup, play at the beach, slide or swing at the park or ride down the street like her peers do.
CDKL5 is not inherited and it can not be screened for. It is a spontaneous mutation at conception and the odds are like being struck by lightning.
In recent years there has been some fantastic progress in gene therpay for CDD and we hold hope that a cure may become available in her lifetime.
Fundraisers like this help our researchers with this important work.
What we are realistic about, is that this gene therapy may not be made available to Adeline in her lifetime. The brutal reality is that she may not even be alive by the time she can access the treatment (1-10 years away).
But amongst all of her and our suffering, we hold onto hope that if not for Adeline, perhaps for another child. Perhaps our efforts can contribute to interrupting seizures as soon as they start for other CDKL5 infants and give that child a fighting chance of a happy, healthy life.
No donation or gesture is too small, no effort is unnoticed. Whatever you can do to support this research we are extremely grateful for.
