We’re doing good here. Things on the improve. Or perhaps a plateau in all things, meaning my brain has had time to adjust. Get over the down time that came after being told yet again, that the doctors can’t fine anything.

Medical updates on Luca:

Neurology: Neurologist seemed pretty happy with Luca’s all round health. He doesn’t think he’s having seizures again. We just had an EEG- and will find out if he did have any seizures. If not, then he’s officially seizure free.

Sleep: His sleeping has decreased. He’s screaming a lot more- and nothing we can do can help him stop screaming. Some days he starts at 4am- and for my sanity, I go off to gym, while husband and daughter keep sleeping. We have been prescribed melatonin to help him get to sleep.

Research: He’s had a skin biopsy done, and that has been sent to Harvard again. This time, they will be doing a “whole genome sequence”. Again, theres a 10-20% chance we may get a diagnosis from that, but maybe not.

After years of trying, we’re finally getting some hydrotherapy time at RCH. Luca loves the water- and loves his physiotherapist there. They even play music while he’s in the pool. Music and water are his greatest loves.

He is using his vocal chords a lot more these days. Its no longer easy to go to a cafe or  cinema with him thinking he’ll be quiet. Although, he IS slowly able to feed himself a rice cracker that dissolves in his mouth- meaning it helps him be quiet… and also more feeding skills.

We recently went on a holiday with Luca to Cairns. It was his 3rd interstate trip- but his first in his own seat. It was a bit stressful, given he’s not very good at sitting in a chair. The staff at Virgin advised me of the “torso harness” that they can fit to his seat to help his stay close to the seat and hold him up right. It kinda worked…. but I also had to hold his crotch up for the full flight time of 3.25 hours. I couldn’t have done that trip without my mum. Bloody angel. This trip helped me get more comfortable with being assertive for my son and his needs. Having to repeat that he is “intellectually and physically disabled” over and over to ensure the trip went as smoothly as possible. Its pretty confronting to have to say it… but I guess if I didn’t, it doesn’t help anyone.

As time goes on with Luca, I just feel myself not “believing” he has a mitochondrial disease. But one of his fantastic doctors also said to me “but you can’t rule it out, because, no one knows”. I will always support the AMDF, but I have found a new tribe in “SWAN” -Syndromes Without A Name. Its a place I can pigeon hole myself, without actually being in the same pigeon hole. This Sunday, I’m going to be meeting other mums from SWAN at a complimentary late mothers day afternoon high tea at Brunettis. There are so many stories to be heard and told about families who are desperate for answers- and may or may not get them. To have a community to belong to is such a big important factor to have great mental health. For now, I’m doing well, Luca is doing so well. Thats all we can ask for.

 

Info on SWAN: https://swanaus.org.au/information/