Well the appointment we were waiting for has come and gone. The venue was a plush medical centre in the North of Barcelona called Teknon. I know that a fair amount of kids that are waiting to be transfered by the state to Barcelona have been to this private clinic which has an excellent reputation. The doctor was obviously a metabolic and neurological expert - she has seen many cases and she deals with mitochondrial disorders everyday.
On seeing Talia, she was taken by the size and failure to thrive aspect of her. I think this was the most striking symptom that caught our attention. We went slowly through all our notes from start to finish - I made her a folder and we meticulously talked through our progress. She agreed that lactic acod levels, lactate and pyruvate were elevated and claimed that she had the numbers to potentially be diagnosed as having pyruvate dehydrogenase deficiency but that many symptoms were not present meaning that she may not have it at all. However as the figures stack up, we need to wait for the skin biopsy to arrive which is specifically looking into this disease before looking to other possibilities. We just have to pray as pyruvate dehydornase is a fairly nasty illness with relatively low life expectancies - the expectancy depends on the severity of the disease. However Talia looks so well and is progressing and does not have half the symptoms so we must stay positive. Obviously I feel a little numb as I just wanted the doctor to exclude any mitochondrial illness and tell me that we were over concerned parents but she didn't.....
I asked whether there was anything we could do prior to the results of the skin biopsy with regards to vitamins and diet as I know that some patients may gain from a ketogenic diet (low carbs, high fat) and also prescribed vitamin B and Carnitor. I liked the Dr very much as she was not extreme - she said to lean towards the diet but not to be too extreme and to monitor Talia's reactions and act accordingly. So here begins a new challenge.
If the muscle biopsy shows tah Talia does not have PD then we will come back to Barcelona and the Dr will perform a muscle biopsy - so for now we will have to wait and see what happens.
Looking at Talia she is thriving in the sense that she is progressing everyday - this gives me hope and she is so beautiful, I just love her so much. Yesterday was intense but after the appointment, Andrew and I went on a tour bus with Tali and had a lovely Mexican meal - I treated myself to a Magarita. We are going to enjoy the next couple of days and focus on Talia's wellness and happiness - after all even the most healthy of us do not know what tomorrow will bring-
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