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Adeline's Brain Gains CDKL5 Research

By Anna Pitman

Help our family find a cure for CDKL5 Deficiency Disorder

Adeline had her first seizure at 2 weeks old. At 5 weeks old she was diagnosed with epilepsy with the cause unknown. Originally, the neurology team were hopeful Adeline would grow out of her seizures but at 11 months old her genetic results returned a result of 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. 

Adeline turned 4 in June this year and in her lifetime she has missed almost every single developmental milestone. She cannot sit, stand, walk or talk, she has no functional use of her hands and is legally blind (cortical visual impairment).

In addition, Adeline suffers from daily seizures. Some are more severe where she tenses up, fits, vomits or stops breathing, alongside hundreds of smaller seizures where she has short spasms or loses (what little) awareness for short periods. Regardless of whether they are big or small, each seizure upsets her causing her to cry, sleep or scream for hours during the day.

Each seizure causes a degree of brain damage and as such the confounding impact alongside lack of mobility leads to profound intellectual, social and physical disability, culminating in a shortened life expectancy. Adeline is currently under Palliative Care. 

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.

CDKL5 Deficiency Disorder (CDD) was only discovered in 2004 so there is much we are still learning about the disorder. However, given it is one of the most severe genetic disorders known (of 6000 conditions) it has had a good amount of research. There are currently three projects globally looking into gene therapy. The hope is that by replacing the damaged gene, children may gain some function or reduction in seizures. One of these studies in America has now completed its mouse and mammal testing stages and is moving towards human trials, subject to a lengthy FDA approval process (currently underway). The estimated timeline is early to mid-2025.

There will be a handful of children selected for phase 1 of human trials and if Adeline is eligible and selected, we will move mountains to enroll her. There are thousands of children registered with this condition so she will be extremely lucky to be selected.

What could this mean?

Gene therapy has shown extreme promise for a variety of conditions. One example of this here in Australia is Spinal Muscular Atrophy (SMA), where infants with type 1 SMA usually die before their second birthday. Further, in a condition similar to Adeline’s known as AADC Deficiency, I’ve personally witnessed a child go from being completely immobile without the ability to even hold her head up to independently walking along the beach, feeding themselves birthday cake and helping mum cook dinner all within 2 years of receiving treatment.

This is the future of medicine, and we hope to also be Adeline's future.

This page collects donations that are donated towards gene therapy research in Australia run by the Children's Medical Research Institute (CMRI) AKA Jeans for Genes. This research team have developed a mini brain impaired with CDKL5 Deficiency which enables us to test potential treatments on a "human" to ensure anything we administer to these children doesn't have life limiting or fatal side effects. 

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. Because the life that Adeline lives is no life.

Our experience has taught us what is possible with one voice, what can be achieved via advocacy and also the power of compassion.

No donation or gesture is too small, no effort is unnoticed. Whatever you can do to support this research we are extremely grateful for.

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My Updates

A new brother!

Friday 9th Aug
Adeline got a new younger brother in June 2024, his name is James. We aren't sure how aware of her siblings she is but we hope that over time they develop a special relationship.

Adeline playing in the rock pools

Friday 9th Aug
The beach is a very overwhelming place for Adeline who gets overstimulated easily. The good thing about Broome beaches is that the sand is hard which means wheelchair access for her. The water is also much warmer which means sometimes she tolerates getting wet. Our family love the beach and it's very special when Adeline is well enough to come too.

Adeline on family holiday in Broome

Friday 9th Aug
Adeline lived in Broome for 2 years but we had to locate back to Perth as we needed to access specific supports for her that weren't available in a rural town. We plan to head back to Broome each dry season for a winter escape.

Adeline's 1st Day at Kindy

Friday 9th Aug
Adeline attends a disability school in Perth that provides modied education for children like Adeline.

3 years old: Practicing standing in her Stander

Wednesday 12th Jul
Adeline does 1 hour a day in her Jenx Stander.

3 years old - At the beach with her younger brother, William.

Wednesday 12th Jul

Countless ED visits

Wednesday 12th Jul

Hanging with bestie who is 1 day younger than Adleine.

Wednesday 12th Jul
The girls are 7 months old.

Practicing sitting at 2.5 years old

Wednesday 12th Jul

10 months old at Easter

Wednesday 12th Jul

Thank you to my Sponsors

$10.44

Merise

$28.19

Shannon Fenwick

$28.19

Kirsty Mountford

$52.20

Megan Josh Layla Havana Myla

Sending lots of Love and strength to Miss Adeline. Hoping for a treatment/cure to help her and others like her 🙏🏼

$20.88

Marie Cox

$52.20

Anonymous

$30

Faye Denty

Team Adeline 💫

$28.19

Naomi Coslani

$100

Jn Construct

Hope your well guys and this little donation helps.

$28.19

Christine Francis

$52.20

Anonymous

$104.40

Anonymous

🥰🎂

$52.20

Morag Leith

Happy Birthday Adeline! Hope this donation can assist in some small way with research into gene therapy to help enhance your quality of life. Love you! Morgs, Marcus, Casper and Juno

$30

Sulcs Family

$20.88

Cheryl Brown

$31.32

The Garratts

On behalf of Ellie on her first birthday 🩷

$52.20

Ciesla Family

On behalf of Ellie ❤️ Sending love to Adeline xx

$31.32

Chris And Erica Arch

On behalf of Ellie for her birthday x

$20.88

Anonymous

$28.19

Hazel Calabrese

On behalf of Ellie for her birthday

$20.88

Nicolette Figliomeni

On behalf of Ellie’s 1st birthday, much love.

$36.54

The Muller Family

$30

Nicola

$70

Rebecca Hudson

On behalf of Ellie for her first birthday! LOVE Momo, Renee, Bec and Anna

$30

Anonymous

On behalf of Ellie xox

$52.20

Shaylee Hohapata

On behalf of Ellie ❤️

$30

Gamble Family

Sending our love to Elena's friend Adeline ❤️

$40.4k

Jeans For Genes Skipping Challenge 2023

$52.20

Aimee Smart

$5.95k

Baby Adeline's Brain Gains Gofundme Collection

$208.80

Jamie W

$24.87k

Baby Adeline's Bran Gains Gofundme Collection

$3.13k

Facebook Skipping Challenge 2022