In the last week and a half Gemma has been having a lot of 'de-sats', where her vitals have been fluctuating and she has been requiring oxygen. She is normally on 'room-air', which meant that her lungs were healthy and she was able to do more work on the ventilator. At first we thought it was a bit of a food intolerance or reflux but it continued and her CO2 increased so we ended up having to take a step back with her ventilation and put her on the old mode that does most of the breathing for her. It helped give her a break from whatever she was struggling with and she was able to go back to room air intermittently but lately she has been requiring oxygen again.
Gemma appears to have a bit of pneumonia but she seems to have had it a while and it isn't affecting her white blood cell count or haemoglobin. The last few days she has been looking more comfortable so perhaps it was a bit of exhaustion from doing a lot of work on the other mode of ventilation, combined with a few other changes.
This past Thursday someone from Genetics came by to have me sign consent for Gemma's DNA to be sent to Germany for testing to see if they can help give her a diagnosis. The DNA was already in storage so they didn't have to perform any tests on Gemma. The reason it took a while for the DNA to be sent off is that they had to get funding, almost $6,000 that has been approved by MSP. We are grateful that Genetics followed up and are trying to help us work towards a diagnosis.
Just as we were feeling hopeful we were blindsided on Friday with devastating news about Gemma's MRI scan. It shows that some original brain trauma that they weren't concerned about has actually gotten worse and that her brain isn't growing at a normal rate. We were previously told about things she *might* not be able to do with a Neurological Muscular/Nerve disorder, without a diagnosis they weren't sure, but with the MRI they have a lot more 'concrete' evidence of what they believe she won't be able to do, which is quite extensive. They expressed serious concern as she already has other underlying conditions and this makes things a lot more complicated. Her care seems to be put on 'hold' and their recent pro-active attitude has drifted towards an overall feeling of uncertainty about her future and talk of palliative care.
We have asked to speak further with Neurologists next week to see if we can find out more information to give us a clearer image of what her future would be like and set up another care conference to discuss what will be the next step.
We appreciate your support and ask you to keep us in your prayers.
Love Amanda, Charlie & Gemma
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