The story of Mila
At age 3 Mila had severe regression, loss of speech, tremors, and seizures. Six months later she was diagnosed with level 3 nonverbal autism. Little did I know that this would be the beginning of our rare disease journey.
Mila was then diagnosed with METTL23 at the age of 4 with Whole Exome Sequencing on January 6th 2023.
At that time she was 1 of 6 reported cases in the world.
I have spent the last 2 years searching for other families like ours on social media. This last weekend it happened. I found community.
Mila is estimated to be 1 of 20 individuals with this condition. I have been able to locate 10 families including: 11 children and 2 adults with METTL23.
We are currently working on a METTL23 Research Publication that will be the most in depth global study of its kind.
Some of the symptoms of METTL23 include :
Structural changes of the brain , tremors, intellectual disability, seizure activity, poor coordination, lower limb spasticity, ADHD, hypotonia, and Autism.
90% of rare diseases do not have FDA Approved Treatment. Mila is affected by this. There is no cure for METTL23 nor is she receiving FDA Approved Treatment.
There is power in connection, understanding, and sharing our journeys with our children. We are no longer alone.
I hope I can continue to share awareness of Mila’s rare disease and a cure may someday be available for her and others like her. Until then , I am asking you to share her story. Mila’s story matters. Please be an ally for my sweet daughter.