Daddy's Girl

Well just when I think that its all onwards and upwards, there's a kink in the road. My father has looked under the weather for a while and I have been worried about him but I guess that since mum's been away he has kept up a brave face so that not to worry me. Mum arrived last Thursday and to be honest I felt a huge wave of relief to know that she would be there with Dad. I have spent some time with Dad but I am his little girl and I find that instead of looking after him, he just looks after me - he goes to the supermarket t buy special food, he comes with me to collect my girls, he refuses to let me pamper him.

However as we headed to Malaga airport to pick mum up, he looked greyer and generally unwell and at that point I knew that he had kept going and now felt able to let his guard down. Sure enough that evening, we rushed him to hospital.

Its been a tough week - seeing my Dad, for he is the perfect Dad to me in hospital. He is just right by my side with Tali, so actively involved with my life and I just want him to be well. The Dr's have performed tests and we have still to wait for the results so I can't say much at present. He is unable to leave hospital until his cough goes - he has an awful cough but we are hoping that that is just due to a chronic bronchitis.

Unfortunately he was rushed into hospital on the eve of my daughter's birthday which he didn't want as he wanted to go in after her birthday. Thankfully he did go in though because he did need medical help. This weekend of birthday plans has been the perfect distraction for my kids but extremely hard for me to try and stay with it, together and exuding joy and happiness. But we did and the girls had a great time - a big sleepover and a trip to McDonald's coupled with watching High School Musical in La Cañada.

Yesterday I felt a huge relief as I went to the hospital and my Dad looked much better - so much more colour in his face and chatting more. He still can't leave but that's cos his cough is still bad but hopefully he'll be out soon. Mum has been by his side at hospital - literally she stepped off the plane and into the hospital. The test results will be out soon but I remain positive - I spent 3 months waiting for Tali's test and despite Dr's thinking the worst, they have confirmed that she does not have Pyruvate Dehydrogenase Deficiency. So worrying about results prior to their release seems ludicrous.

Visit to Teknon Medical Centre Barcelona

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-