Rome and around 50 other families in the world suffer from ECHS1, some started showing signs as early as birth and spent a period of time in intensive care or started developing symptoms at a later age.
ECHS1 is caused by a single damaged gene which leads to loss of vision / hearing , it affects the brain , muscles , heart , kidney , lungs , digestion and immune system with the worse fact of all leading to death as a child it is a degenerative disease which means over time they will only get worse without a cure or any kind of help .
Last year we was lucky enough to be picked out of thousands of other rare conditions due to our ECHS1 families determination . A medical team from Dallas Texas are working on replacing the faulty gene at a high cost of £350,000 , which so far an amount of around 88,000 has already been raised since last year so the process has been started the trial consists of replacing the faulty ECHS1 gene with a brand new one so to say , this will be done in the same way a lumbar puncture is performed ( a needle into the spine usually performed to collect fluids from the brain ect for tests ) but in this way would be used as a way to deliver the “new” gene into their system instead of removing anything .
or if you would like to donate straight to the hospital
You can donate straight to: https://engage.utsouthwestern.edu/donation-ECHS1
Unfortunately we can’t save our son on our own we need everybody’s help Thankyou #rarediseaseswareness #echs1 #mitowarrior #terminallyill #genetherapy #mitochondrialdisease #mito
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- Naomi Hanson
- Gill Ehlers
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