Letters and a number on a scrap of paper looks like trash to most. But this is the closest to treasure we have been in the 7.75 years we have been hunting for a diagnosis. This is NOT Luca’s official diagnosis- but it is the strongest lead the team at RCH have had.

MT-ATP8
A type of Mitochondrial Disease.
It is a mutation in the genome of mitochondria. (Not sure if I got this right- all by memory!!)
NOT HEREDITARY.
This hasnt been passed on by Luca’s dad or me! So will not be a threat to Luca’s sister or her possible future kids!

There are only a handful of people in the world who have it.
Of the people who have had it, the organ that it affects is the heart.

In June, there is a Mitochondrial Disease conference in Europe and RCH (or Murdoch?) staff will be presenting Luca’s case to see if there any matches or extra info.

I am so thrilled at getting SOMEWHERE!
The tears have been flowing.

Hopefully in a few months we may get confirmation and possible connections or information.

🙏🏽♥️