Our nightmare began four years ago when my daughter Maya was diagnosed with a rare genetic condition called STXBP1 encephalopathy age of 2 years and 2 months. 

seizures started at 9 months old, and maya was diagnosed with epilepsy a few months later. We tried many medications, and seizures didn’t stop.

Maya ended up being rushed into hospital during 2020. 
This was during Covid which meant myself and her dad couldn’t be beside her together,only one parent was allowed in the hospital, and she was having cluster seizures which couldn’t be controlled.

She was then urgently transferred from a&e and taken into a private room, surrounded by doctors and nurses. Maya needed rescue medication through a drip to help control the seizures. 
This was the scariest time of our life’s, we honestly thought that we were going to lose her.

After a few days in hospital being monitored, Mayas bloods were taken and sent off for genetic testing. It wasn’t until April 2021 we received the devastating  diagnosis.   

 During this time ive been researching online, writing letters, emails, I’ve put every effort, bit of energy and fight I have left to get maya the medical interventions she so rightfully deserves.  

It has been a long 4 years of battling medical professionals, failed hospital admissions, medical appointments that have gone nowhere! Numerous medications for epilepsy, antipsychotic medications and antidepressants to stop her causing herself harm and to regulate moods, and a point where we thought that we could no longer keep maya safe in her own home with family who love her! 

We are given false hope and that is stripped away from us!  We have no idea what is happening to our child. And we are scared for her wellbeing and health!

when maya would need urgent medical attention, we would dread the ordeal of having to go through it time and time again. Leaving with no further progress.

Epilepsy medication was weaned off in December 2024 due to professionals saying that these episodes weren’t epileptic in nature.
Since then maya has had clusters of seizures on a weekly basis which has resorted in her seriously causing harm to herself. She’s had multiple infections in her fingers where she will suddenly bite the ends of her hands during these episodes, she has caused trauma to her face by chewing. This has been reoccurring for the last 3 years! With no further help or support. .

 

She needs specialist medical interventions now!!!

 

-STXBP1-related disorders are a group of rare genetic disorders. They are caused by a variation in the STXBP1 gene.  

-The variation changes the way signals are sent in the brain. Brain cells send fewer signals. This causes:  

-Developmental delay  
-Epileptic encephalopathy
epileptic encephalopathy is a progressive decline in brain function due to frequent seizures.  
 

In the UK alone, it's estimated that between 40 people live with this condition, and around 1200 worldwide!

Each saddened by the lack of attention our healthcare system has given us.

This vital issue extends to countless children and adults battling other rare neurological diseases who too, are deprived of suitable medical investigations and treatments.

Lack of awareness and medical research investment often leave rare disease patients languishing in the dark.

By signing this petition, you are not just supporting my daughter, but offering hope to the tens of thousands of individuals living with rare neurological diseases in the UK and around the world.

Help us bring attention to this overlooked issue and prompt the healthcare system to ensure access to necessary treatments and investigations. With your signature, we can start to make this change. Please, please, sign this petition.