For the best part of 2 years we were lead to believe Aubree had Cerebral Palsy, for the best part of 2 years we grieved and grew and learnt everything we possibly could about CP. This picture was taken 1st April 2016 after my 3 year old went through her first surgery and second MRI on her brain, April fools huh? Several weeks later her neurologist offered us an appointment at the drop of a hat saying he needed to see us ASAP. So of course the alarm bells start to ring, what could be so different with these results that he needs to see us straight away? We know her brain is damaged, what more could they possibly find?
As it happens it’s not what they found, rather what she lacked. He explained that you have 2 types of matter in your brain, Grey and White. The Grey is your actual brain cells and the White is the bits that connect all of your cells together, think of them as wires. Wires need insulation to conduct a current properly, the ‘insulation’ in your brain is called Myelin. Aubree has absolutely no White matter in her brain, she has no insulation, therefore her wires can’t conduct sufficient signals, hence her motor disorder.
This condition is called Pelizaeus (pel-ee-zay-us) Merzbacher (merz-back-er) Disease. It is an astonishingly rare progressive disorder of the central nervous system affecting co-ordination, motor abilities, and intellectual function. It is named after 2 German physicians who noted the presentation of the disease. There are less than 1000 cases worldwide. As it’s progressive our neurologist explained that she will learn limited skills until she reached 7/8 years old, then she will rapidly lose them. Alongside this she also has Global Developmental Delay, Seizure Disorder, Gastro-oesophagul Reflux Disease, Optic Nerve Hypoplasia and Postural Kyphosis.
So it feels once again like we’re in an ocean of uncertainty with this strange new diagnosis that no one has ever heard of, trying to stay afloat. Just when we thought we knew everything about her it ends up being something else entirely, all of a sudden everything is different yet nothing has changed. I don’t know what the future will bring, and that is really hard to live with. All I know is Aubree is the brightest, bravest soul and we are truly blessed to be the ones to raise her, and if she can fight through each day then we can to. Come what may, my beautiful girl.
