On Monday, we went to Bristol Royal Children's Hospital for N's six-monthly Neuromuscular Clinic appointment. They have run out of stuff to test for and are referring us to Great Ormond Street. There is a team of four consultants there who will do an in-depth set of assessments and report back to either Bristol or Musgrove. It will be a possible two or three day stay, with accommodation at the hospital.
Things they may ask for include a Muscle MRI and more DNA tests. If she has a muscle MRI they will probably do another brain MRI to compare to last year's one that revealed the issues with the Cerebellar Folia. Because she has a mix of muscle weakness and ataxia (ie, lack of muscle control from the brain), they are focussing on mitochondrial conditions.
The consultant said that issues with the Cerebellar Folia can only be seen over time and "I was expecting to see a swifter progression* and having seen her today, I am pleased to be seen to be wrong". Progression of conditions involving the Cerebellar Folia usually display physical deterioration before cognitive deterioration. Her reluctance to close her eyes, for example when you wash her hair, is probably a product of the cerebellum issue - her other senses are working doubly hard to make up for the fact that her balance is shot.
Her Complex IV enzyme is very slightly low, so they are going to retest that to see if it was an anomalous reading. Again, a low level of Complex IV points to the issue being with the mitrochondrial DNA. Mitochondria are symbiotic bacteria tied in with DNA. Cells need mitochondria to provide them with energy. Mitochondria get energy from five different Complexes, which create the energy via something called a 'Respiratory Chain Complex'**. If the Mitochondria aren't getting the energy they need from the Complexes, then the cells aren't getting the energy they need and her brain therefore can't develop properly.
As I understand it, a lack of a particular enzyme is just a throw-down in the genetic lottery, a blip in the matrix if you like. There is currently very sparse treatment for this sort of thing, but for one particular thing you can have injections of something called Co-Enzyme Q, which helps. They are going to start testing for that, by the sound of it. It's on my list to ring up about tomorrow.
So. Now you know as much as I do.
* ie, deterioration in her condition
** absolutely nothing to do with breathing. Think of it as something that allows mitochondria to breathe, that kind of works.