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-

Barcelona

Well, believe it or not, here I am in Barcelona blogging from our hotel room which has free WIFI access - pretty good!! Its been a crazy week, organising papers etc for this trip which was a last minute decision. After an appointment in Materno Infantil, one of the doctors there asked me why I kept going round in circles and said that the place to be and the specialist to see was in Barcelona. Why, I ask myself, did the doctor not tell me this earlier? Funnily enough though the Dr she had in mind was the same one that I was thinking of seeing as she also appears on a support sight for mitochondrial diseases in Europe. Anyway no use thinking of the past. Now I'm here in this Cosmopolitan Capital enjoying a fantastic holiday with my husband and Talia. Holiday? I hear you all saying. Well we came on Sunday and our appointment is not till this afternoon so we've had a couple of days to unwind, explore and see the sights. We do not know what this afternoon will bring, whether it will just be an appointment or whether we will need to stay here longer and re-organise our lifes - we really don't know. So we decided to really make the most of our time here. Our other two kids are having a ball at home staying with friends and grandparents so they feel as though they're having a holiday too and they're in good hands.

Its my first time here and I must say that this Cosmopolitan City has really captured my heart - the contrast of city and coast, Gothic and new - it is just so exciting and invigorating. Andrew and I have walked till our legs have dropped off exploring the Marina, walking the Ramblas and visiting the Familia Sagrada (which is absolutely incredible).

And here we are today - what will it bring. I am not sure nor am I expecting too much. Whatever happens these few days have been a much needed break - a change from the routine and I really needed it. This morning we are going to have a relaxing time by the pool and give Talia a good swim - I am concerned that she has been sat in her pram so much whilst we walk and I would like to work on the physio, then give her a little siesta before heading off to the Dr's.

So for all of you who may be reading this out there - fingers crossed for us. I just hope that Tali doesn't get poked and prodded.

Diet and Nutrition is Key

I have decided to make a concerted effort and focus on Tália's diet. I cannot just sit and wait for results. I have spoken to many people who have had life-threatening disorders and the reason why many of them are here today are because they are both positive and also concentrate on their diets. I am by no means an extremist - U do not believe in strict dieting as I do not want to make Tália over-sensitive to certain products but I think the simple 5 portions of fruit and veg is a good starting point. I have also started to give her a natural multivitamin - the doctors said that whilst we don't know what she's lacking, there is no point in giving her anything...but alas I'm a bit of a rebel. My gut has been telling me to give her vitamins - so much illness is caused by deficiencies and a natural vitamin made from plant extracts wont hurt her. A nutritionist we know has also got me some probiotic powder for baby's to give Talia so I am also giving her this. Apart from this, I have been giving her oat milk for about 3 weeks and she seems to be improving. Perhaps it's my imagination but the combination of these things seem to be doing her nothing but good. Unfortunately, I am not a dietitian so much of what I do is based on what I read and gut and advice from those around me. I have also looked up information on super foods, antioxidants and omega 3's - slowly but surely we'll get there.

A friend of mine suffering from cancer told me that through her chemo she kept a very healthy diet and this is what has got her through and given her the energy to keep going. She is energetic and runs her own business - quite amazing really.

Tália weighs 4.93 kilos

Dare I say with her clothes on! Anyway at least she is putting on weight and not losing it - I think on our last check, in the same chemist, she weighed 4.7kilos ( approx 6 weeks ago) but need to check my notes to be sure. I know, can you believe it, I cannot remember exactly how much she weighed last time. The Dr told me not to weigh her so often and to let go as each week would be so painful - the whole process of looking at the scales and seeing them go up by a couple of grams was just too much so I literally took his advice and it seems to be working.

Over the last couple of weeks, I have been giving Tália Oat Milk. A number of homeopathic doctors and natropaths have suggested that I cut down on any cow's milk and infant formulas and change to either rice or almond. A friend of my mum's suggested Oat Milk and to be honest, it seems to agree with Tália better. Fingers crossed.

Had Speech therapy in Aprona today and then Physio in San Pedro. Mum came with me to the physio - she usually comes with me on a Thursday and its lovely to have the extra hands and support - usually by Thursday, I start feeling tired and its great to spend the morning with mum. Then usually we bring the girls to her house and we spend the afternoon together. And the last few weeks, my brother and sister-in-law have come with my new darling Indy. Oh I do love being an aunt. Indy is gorgeous and growing fast ( thank God). Seeing a normal sized baby these days makes me feel so happy and relieved. I looked around the room yesterday and just said how from just two of us (my brother and myself), did we end up with such a troupe?? And so many girls! But to tell you the truth - I have a soft spot for girls!

So yesterday afternoon, we all went swimming (not Indy of course - at two weeks, she's a tad too young!!!). My girls were doing their usual water gymnastics with my brother and sister-in-law's sister - standing on shoulders and all that jazz and Talia was swimming in her ring soaking up her independence, really working her muscles - oh I do love the Summer. These moments, these snapshots are so special to me - I don't know what Tali has, how serious it is, whether she has a short time frame in this world or whether she is just going to grow out of what she has but regardless of that, these moments are precious. Anything can happen tomorrow to any of us. For today we are all happy and well and nowadays these moments make me stand back and just record - record the bliss of the present.

It is easy to get stuck in the future and sometimes research does that to us - what is going to happen? BUT none of us know what tomorrow will bring and for today all is well ...

Excellent Metabolic Site

Can't believe it's already thursday tomorrow - where has the week gone. Yesterday Idecided to be brave again and do some research on metabolic and mitochondrial problems. It is a very tough subject to understand but my brother - in -law sent me a fantastic site which is a mitochondrial disease foundation in Pittsburg - any parents concerned about metabolic illness should look at this site. So far it is one of the most comprehensive sites that I have seen.

The Americans seem to be way ahead on this subject - they are coming up with supplements etc that, whilst they do not cure these conditions, they can help to manage them and avoid them from progressing too rapidly. We may have to think about heading to the states if we hit a brick wall here.

Well anyway, today has been a good day - Talia had swimming and thoroughly enjoyed it - she is really in her element in the water. Also my sister in-law came to visit with her two youngest daughters and the kids had a ball.

Tomorrow is another long day so I guess I better sign off.

Thank God its Monday!

Well, dare I say, 'Thank God its Monday'! Girls are back to Summer school in the mornings. I know it sounds bad but by Sunday evenings I sometimes begin to crave, 'my time'. I love being with the family but the weekend turns into a lot of cooking and by the end of Sunday, I sometimes feel that half of my day has been in the kitchen- cooking, cleaning, cooking, cleaning...... I know I shouldn't be so ungrateful - we have had some spectacular moments. Sunday evening we went swimming and Talia and her sisters had an amazing time together. Talia just loves the splashing and doesn't seem to mind being drenched by the water. Tali was justso independent in a tiny rubber ring -its not really made for kids but is part of a toy! However it is the only float to fit her perfectly So lovely to see her free - not just for me but her sisters and Dad too.

My husband is working so hard at the moment - his alarm went off at 4:45am as he went to queue at social security to help a colleague with paperwork and translation! He's a kind man. However its been quite a morning for me rushing to get the three up, dressed, creamed (sun cream) and breakfasted and out the door by 8:30 and then straight to Estepona after that for Tali's physio. Managed to grab a coffee with one of my best friends, Susan - and she has been such a pillar for me. She suggested collecting the girls from school and that I join her by the pool later around 4ish. That is really good for me as it means that Tali can have a sleep in her cot and feed properly before I have to put her back into the car and move her again!

Ooh I am excited about all going swimming again - a mum's wish is to see her child happy and independent. All three of them look so content when swimming together - it really is a miracle.

Tália's First Night Away

On Wednesday night, my eldest daughter was invited to the fair by her best friend and then for a sleepover. We decided that we would take our five year old with us to the fair and spend some quality time with her. The original plan was to take Tali too but Mum and Dad suggested picking her up and keeping her overnight, which to be honest sounded like the best option - the late night at the fair and the loud noises and flashing lights would probably be too much for her. And so Tali spent herfirst full night away from me. I really missed her loads and kept popping my head over the side to see if she was in her cot. However despite this, I really did enjoy my time alone with my 5 year old who adores the fair. She dolled herself up in a sparkly pink dress and just held my hand, happy to have me to herself - she was the baby before and that time together now was much needed. My eldest was also in her element needing to be with someone her own age rather than just with her younger sisters.

Tali slept well with her granny and grandad - I really was very comfy as I knew that Mum and Dad could really look after Tali as their own - mum does fantastic physio with her and yoga postures to help her strengthen her muscles and Dad plays lots of games with her, stimulating her with logical games. Personally I think it was beneficial for Tali - sometimes special kids can be set in their ways and fearful to venture away - I think that flexibility and variety are essential to help integrate her into today's world.

On another note, people have asked me why I don't post pictures of my two older girls -to be honest its more for their privacy. I think they are probably best to have a little anonimity. My main reasons for having pictures of Tali is firstly because should anyone with a similar case be reading this, they may see similarities in her stature, and secondly because some of the emotions captured in the photos cannot be put into words.

Talia's First Birthday

What a weekend - Talia's first birthday on Saturday (28th June) and Spain winning the football (- it was all celebration at home.

I just can't believe that my precious baby is one. On Saturday we had a 'small' family tea party for Talia. She was in her element when we cut the cake and was smiling and giggling as we burst into 'Happy Birthday'. She generally dislikes loud noises so I expected her to cry but to my utter surprise she was the only one of my three girls to welcome our tuneful singing!

She had a lovely day. On Sunday morning I was so excited to play with her with her new toys, as were her sisters. She has the fanciest toys in the world what with electronic story books, musical instruments, light-up mirror lap-tops, exquisite bath toys - I mean its a baby's paradise. She has lots to keeps her stimulated.