Tests and more tests

Well, finally we have sent off our samples to Zaragoza. Now we just need to sit back and wait to see if we get any concrete diagnosis. We sent blood, urine, mucous and eyebrow hair samples from Tália and myself. Between you an dme - the mucous sample was awful, they had to take a throat swab and it kept on making me gag. Just to think that Tali always goes through these tests.

The Costa del Sol were fantastic - they prepared it all for us. Obviously getting blood from Tália was difficult - we always have a hard time doing this, but the nurses were kind. I had to pin her down while they took the blood. The urine was somewhat easier than usual - now that Tália sits on a potty, collecting a sample is so much better than sticking those plastic bags on her.

Well, its over -I always dread bloodtests for her and now I cansit back and let it go!

They have found Something

Well, on Friday afternoon I received a call from Barcelona where the Dr told me that they believd that they had found the cause of Tália's condition. They had found a mutation in the mitochondrial DNA and to be more specific in A5514G. As usual, rather than receiving this news in the comfort of my own home, it was whilst driving to school to collect the girls on my hands free.

Obviously I asked many questions- what does this mean in real terms? What does it mean in terms of Tália, in terms of quality of life? What is the prognosis? Is this a diagnosis? Does it have a name??? But alas, these questions still remain unanswered. The Drs need samples from myself and Tália to be able to confirm diagnosis. So,it appears from this finding that Tália does have mito, although we have been down this route before and dont be suprised if I contradict this later on. We have been so close before and it has all been unfounded.

So how do I feel? Well to be honest, I have really thrown myself into the day to day care for Tália. I have really been enjoying her. I have felt very settled. A friend asked me, how do you live without a diagnosis, have I learnt to accept that I may never have one?

For the first time since Tália was born, I have really felt liberated, really believed that maybe not knowing was best - isn't ignorance bliss? Is not,no news, good news. Also I have seen many close friends and my lovely cousin lose their kids this year. It has made me realize that the quality is ever so important - we do not know what the next day will bring for any of us. By having no guidance, no diagnosis, I have also had infinite hope - nobody to place Tália in a box. No mental conditioning. I have come to realize that this has its advantages.

So, as you know with life, once you get comfortable with something and accept it, bang, answers will come. So how did I feel - well to be honest a little unsettled. Also my fear was that if they have found a mutation and this mutation came from my mitochondria, then there is 100% chance that my girls will be carriers of this mutation. This thought scares me.

Anyway, whilst I had this original discomfort, I have stopped myself there. Hasn't life shown me that there is no need to worry about something that hasn't yet been confirmed?? Couldn't Tali be the first one in the chain with the mutation??? If this disease is so rare, then the sky is still the limit. Nothing has really changed, Tália is thriving and I should focus on that and not lose my enthusiasm or direction.

So, I am back on track, I will need to plan a visit to Barcelona soon and I will need to follow up - but I am not going to cry over spilt milk that may never fall.

As you can see, I often need to work with myself on this journey. Just when I feel safe, there is a big suprise dip in the roller coaster. But I continue to believe that nothing is impossible, I continue to believe that the most important thing is that Tália is happy and content and not suffering. The love that we all feel is just incredible - the bond with her sisters, the bond with us is inexplicable and we need to make the most of this beautiful, although somtimes painful experience.

Good Days, Bad Days

Well it has been a real roller coaster ride. On Sunday, Talia looked positively awful, she was so chesty and refusing to eat again. I went to bed with a heavy heart fearing another trip to hospital. But then, all of a sudden she woke up looking like a new person. She had more energy and actually ate three good meals. She is on a number of natural and homeopathic remedies and they seem to be helping her lots. I really do see allopathic and natural medicine as complimentary - I have needed both for Talia and it concerns me that people often see them as two sides of the spectrum.

Anyway she had a fab day yesterday too, slowly with more energy - able to sit up again, able to chat a little but then just as I was starting to relax, we had an awful night last night. But what on earth caused her to cry all night long? It really puzzles me. I thought perhaps she had kicked the side of her cot and hurt herself.

Anyway I have just spoken to the physio because after examining her, my gut tells me that her hip has come out of its socket a bit. I have given her an anti-inflammatory and she has eaten so now I am just watching her. If it gets any worse I will take her to the physio to check it out and then perhaps to the Dr.

She has just managed to fall asleep so that is a good sign - she was in too much pain last night to rest. Lets hope that she wakes up feeling better.

My oh my - it is already December - I feel as though the last three weeks have been about survival and getting through them. It is pretty scary to see Talia sick - she is so small and skinny that seeing her lying down and so floppy does thrust me back into reality. I can see just how vulnerable she is. Yet in our own ways, aren't we all?

I am so looking forward to going back to our physio sessions and all the activities - we have so much fun together and we really do enjoy the moment. I have seen Talia improve so much over the last few months. We just need to get over this hurdle and continue with the race.

I have finally received the muscle biopsy report from Barcelona. I spent quite a lot of Monday translating it - dare I admit that I quite enjoyed the challenge of translating the medical jargon? Wow, I learnt so many new terms - it really got my brain ticking. Probably not a bad thing since I have spent most of my time watching and listening to Baby Signing Time!

It appears that nothing abnormal has been picked out yet. I have written to the Drs asking whether this means Tália is not a mito patient. It appears that there is no mito problem in the muscle tissue but what exactly does it mean in real terms. Her lactate seems to be at its lowest level ever. However the mito medication - Q10 and Carnicor do make a big difference to her. Oooh I really don't know - you think you have a dignosis and then you end up back at square one.

Complex i, iii and iv and a new journey

Well, what a few weeks. Talia is slowly regaining her strength after we had a bit of a dip. I rushed her to hospital about ten days ago - she looked limp and floppy and she seemed to lose tone, especially in her mouth - eating and chewing seemed to cause discomfort and pain. So we took her to Costa del Sol where between a glucose drip and carnicor they managed to make her look much better.

I am just so grateful to the UMDF as there are no mito experts in this part of Spain and I gave the Drs the sample letter from the UMDF handbook. The hospital was great as they just prepared everything following the handbook advice. I feel scared sometimes though when my decisions are so important, so alone if the responsibility is on my shoulders. What if I make a mistake???

I can't help but think about what happens to mums who don't have these tools or don't use the internet because the web has been my saving grace.

I also received the muscle biopsy and it appears Talia has a multiple complex deficiency. Despite having something, I still have so many questions.

And this has led me to book an appointment in CLEVELAND CLINIC. I just really need to do this. I need to know that I am doing the best possible thing for the future. My Dr says the prognosis was better than anticipated but never mentioned what was anticipated so I am still a little in the dark. But I am re-inspired again - time to take the bull by the horns, time to find out more! So I'm off to the US in just a couple of weeks. I feel excited as I visualized this trip but also apprehensive - long journey with Tália but just feel I need to go.

Has been a hard week - have missed my Dad loads. He would have really been there checking out hotels, Drs and helping with the planning. I am so lucky though because my sister-in-law is coming with me and it is so good to have company and someone to be with, someone to chat to and some one to have a good laugh and glass of wine with!

Its time to move on and take some action

Well, I have once again reached a point where I feel I need to move forwards - it has been nearly 4 MONTHS since Tália's muscle biopsy and still NO FORMAL RESULT - am I being too patient??? Time to get the ball rolling. I refuse to sit and wait!!! I am so relieved to have made contact with the 'Walking with Giants' Foundation and will be joining their annual family conference. It will be nice to meet other parents going through a similar thing as ourselves. I think we need to look outside Spain as I still feel things are not moving fast enough here. The therapy and physio side is going well but dare I say I think that we should probably take a trip to the States. I have started making enquiries and writing to different doctors but before any progress can be made - I need the muscle biopsy results!!!!

Primordial Dwarfism

Well, I have just seen a Channel 5 documentary, Extraordinary People, Britain's Tiniest Toddlers and my skin is up in goose bumps. This programme aired by Channel 5 is amazing and what's more amazing is that they remind me of Tália. Weirdly too, Kenadie, a dwarf who joins them at a Walking with Giants conference is wearing the same dress as Tália is in the Eye on Spain interview - I am shell shocked, is this a sign? Could Talia have a primary form of dwarfism with mito being a secondary feature?? She seems to fit in with them. Parents of Alex, diagnosed with MOPD 2 have set up an organisation - have a look at it - and please tell me, am I seeing things or does Tália look similar??? See the website - are there more of us with minature kids than we think??? How many people are out there like us but bringing these kids together will give them a social life, a chance to have a community.

A few more answers

Well, yes I know, I left off on Tuesday talking about d-day and then went quiet. Well the reason for this is that I had to absorb the information myself and it would help if I understood the information but when I heard the result, it was like someone chatting to me in Russian. I just could not get to grips with the science. The Dr was very patient reapeating it a few times but I feel a bit of a bimbo really. I was rushing to collect the kids from school and pulled into Carrefour and spoke to her on the hands free with Tali beside me - not ideal for concentration huh??? But if I didn't catch her then, I didn't know when I would as I had to take my girls to dance classes etc. and I reckoned hands free in the car with one topped three in the car!!!

Anyway I will reveal what I know though its not much as nothing official has been released and until the full report and all results are back (about 3 weeks) I wont be able to scour the report and knuckle down to some serious research!!

Basically, Tali has got Mitochondrial Disease, they has found something in the fibres and they are waiting for some respiratory DNA analysis for formal diagnosis but looks like she has some kind of complex. Exactly what the prognosis is - I still dont know.. I will have to wait till the suspicion is confirmed. The Dr however has seen the video of Tali and says that her progress has been exceptional and very positive so I thank you guys for all your prayers and support.

This week has been a tidal wave - waiting with apprehension for the results to finally getting something but not fully understanding. Should I feel relieved or nervous?? Anyway, it is what it is. Thankfully, Tali has had a better week this week and was better at nursery again - when she was ill last week she was so floppy and despondant that I was terrified.

My physio in San Pedro was so happy with Tali's sturdiness on her feet and Tali lifted herself from a sitting to standing position. So I guess that a diagnosis will give me the opportunity to stop searching and just focus on Tali's develpment. My physio wants her to start horse-riding , I am quite scared of horses but i must admit, it sound quite exciting and a bit adventurous and Tali would love to be outdoors like that.

I will keep you all posted when I get the final result. I just pray for a calm week next week. Apart from Tali's results we have been busy at work. We have a business stand for Hamilton Insurance at the Palacio de Congresos, Estepona and it is quite exciting and we launched our new website www.hamilton-homes.com on Thursday.This was a big deal as it is a project that my Dad was meticulously working on - I just wanted to complete the project - I feel that we have forfilled someting.

The work aspect has been fun and helped me through the initial part of the week when I was waiting for the results but I admit I am pretty tired and could do with a little less drama at the moment!!!!!

Muscle biopsy in Barcelona

Well its been a long time since I wrote - over a month. Unfortunately my beloved Dad slipped away from this world on the 23rd December. It has been therefore a difficult month - whilst he passed away peacefully and beautifully with the immediate family around him, there is an aching feeling of loss of a loved one -like part of your body has been torn off. We all miss him terribly but also understand that he is at peace - his body was riddled with cancer and as he slipped away, the expression of suffering turned to one of freedom.

Well I miss him terribly as I was his little princess but that is another story for another time and really this blog is to focus on Talia. Now, especially after my Dad's passing, I am determined to do what I can to help her. I want to get her up and walking and I have many goals.

On the 19th January, Andrew and I were in Barcelona, hospital San Juan de Dios to do a muscle biopsy. The muscle biopsy is the final test necessary to find out whether Talia has a mitochondrial disease. As yet we have no diagnosis.

I have to admit that listening to her cry through the biopsy was awful, yet I guess a good sign that she was conscious and has a fighting element in her. Still this time it seemed harder - I guess after everything that's happened with Dad, I feel more sensitive. Despite the latter, I firmly believe that he is our guardian angel and that he is protecting Talia. She was so close to him and many an afternoon she would lie beside him and have a her nap - right up till the day he died. She would curl up to him and fall fast asleep. It was beautiful to watch this bond.

Anyway the specialist in Barcelona seems convinced that Talia has got some mitochondrial problem but we remain unsure until the biopsy comes back. The doctors in Barcelona were amazing - so warm and professional and caring.

Today I have been to Costa del Sol to remove Talia's stiches (about 4 on her leg). They removed them but the wound still looks quite fresh. My best friend Susan came with me and we had to hold Talia down whilst two nurses worked to remove the stiches. My poor baby - I hate to watch her suffer.

Having said that - she has an amazing character and energy and within half an hour was laughing and smiling - she is just so adorable and a real gift.

Anyway more to follow tomorrow - time to get some sleep! I am so exhausted - some of this may not make sense!

Autism can be Reversed

I feel so deeply touched and overwhelmed by Jenny McCarthy’s book, Louder than Words. Reading about her challenge in diagnosing and then finding treatment for her son, Evan, brought tears and joy to me. Reading her thoughts and experiences just was like déjà vu to me, a total emotional roller coaster. And yet she has always had a ray of hope and strength to fight through to the end. The results have been fantastic and any parent with an autistic child or child with some kind of developmental delay should read this book.

She has had her fair share of negativity. Drs who believe that Autism is something you have and something you need to adjust to (sounds familiar doesn’t it? How many times have I been told to be patient and just change my life and deal with what comes my way, that there is nothing I can do).

Jenny reveals how dealing with the different symptoms of autism can actually lead to some or total recovery from autism. It seems ludicrous that we know nothing about half of these diets etc. It seems crazy that 1 in 150 kids have autism. It seems maddening that in this day and age, we are still battling the medical world.

Reading this book has opened my eyes – Tália does not yet have a diagnosis but she does have symptoms; failure to thrive, hypotonia, general developmental delay and after reading this book, some autistic features. The joyous flapping of arms is a typical autistic feature, the loss of language – at 8 months. Tália was saying Dada, then suddenly one day she just stopped and we are still trying to get this back, her love for spinning fans and tops etc.

So, if Tália has a slight autism and also cannot absorb some nutrients (as with autistic kids), surely it would pay to start therapy to deal with these traits? Sure the physio and speech therapy are halfway there but we need to look at biomedical help too.

Yet Drs have not even mentioned autism, despite the fact that I have mentioned her hypersensibilty in her hands and fear to touch things. They have barely mentioned diet. No one has checked her food tolerances and intolerances. Nobody knows my child – the Drs see her for minutes – so they don’t see her flap. Nor do they see the positive –they don’t notice that now she can stand holding on to a surface – isn’t that a great achievement for a child who could barely move her arms and was completely floppy 9 months ago?

I know that autism is probably only part of the explanation but like Jenny who started looking at the symptoms –gut problems, yeast problems, immune problems etc. and fixed each one, I think, we, without any diagnosis need to follow in her footsteps.

And why does this feeling in my gut tell me that I am on the right path?? Well, firstly, I was amazed to see that Jenny dealt with issues at times in the same way I do. She trusted her gut and also asked God for signs – large whopping ones that fall down and hit you on the head.


Well guess what? First my mum bought Jenny McCarthy’s book in the states – she said it called out to her and beckoned to her – remember up till now we have not even looked at autism! Then last week I decided that Tália needed to have a muscle biopsy so I will probably need to go to Barcelona soon ( more signs led me to this decision). Whilst reading Jenny’s book last week, I questioned my speech therapist about autism, about metal build up in the body, about vaccinations and blah blah blah…… She said, ´Tália is not autistic¨ - I know that she doesn’t fit in the box but some things she does are the same. By coincidence (or not), the speech therapist introduced me to mum who happened to be waiting at the same time as me. And guess what, she had just been to Barcelona the previous day to see a DAN (Defeat Autism Now) Dr. She asked me if I knew what that was – if she had asked me one week earlier, I would have been lost but Jenny used DAN Drs and I was looking for a Dan Dr and low and behold where is this Dan Dr? In Barcelona! And where do I need to head to for muscle biopsy – Barcelona!!!

This fab mum gave me the Dr’s number and website. Whilst trawling through Jenny’s website , I also came across a directory of Dan Drs and Abracadabra, there, listed under Spain, was one DAN Dr based in Barcelona – there are no others listed under Spain – so guess what – we got a perfect match. The number that the mum gave me was the same as the one on Jenny’s site. Is this not a whopping sign??? I mean surely I would need to be a dunce not hear this signal???

Isn’t the next step on this road mapped out for me already? Now time to move on …time to look into autism and failure to thrive, time to go back to google and time to pack my bags for Barcelona! The adventure is about to begin……

It is nearly 7am so nearly time to get the kids ready for school. Time to close up –my golden hour for research has flown by.

Which cough treatment?

Well, unfortunately Tália has been coughing all night. Oh no! The sudden cold weather has not helped. So now I'm thinking what do I do? Do I give her medication or do I go the natural route. I prefer natural but I don't want the medication going to her chest and at times prevention is better than cure. However after searching CaLCOUGH Tickly (the medicine I have at home for 3months+), online, I don't get much info and have found out that Calcough Chesty (different but same company) was taken off supermarket shelves so I am not going to risk it. I have looked up individual ingredients and it seems ok but it just makes me nervous. So I guess its echinecea, fresh fruit and ginger and some honey, lots of relaxing music and chants and a cosy warm home.


Well at least it means a day in for me - a day to be able to both work with Tália here but also to catch up on my research. I am doing lots of research at present. I have decided that we do need to do a muscle biopsy - everywhere I look and read, the signs are there. I think I'm going to be knocked over backwards with the signs soon so I guess I don't really have a choice.

I am fed up of no diagnosis and waiting - I need to be more proactive and now I am going to try all different kinds of things. I know her best and I need to trust my instincts. I am reading a fantastic book by Jenny McCarthy entitled 'Mother Warriors' and in one of the chapters one of the mum's ( Michelle Woods) says,

'You have to be able to have enough hope and to believe in yourself enough to combat that and go home at the end of the day and say, Ï know I am Right.¨ You have to be strong to look at them and say, Ï know my child better than anybody else and I will be able to heal this child¨. You have to be able to stand up to criticism. Anybody who's ever done anything great has had to do that. I think that a lot of us who have healed our kids know that you have to put up with a lot of crap to be able to do it'.






What a woman - and she has healed her child! It is true what she says - we need to be able to stand up to people - what you think is best does not necessarily coincide with what your pediatrician thinks is best. Each human being is different - we are all different shapes and sizes - how can one cure fit all? I am piecing together the jigsaw and I refuse to let anyone stop me. Time to move.

Mitochondrial Awareness

I have been so touched by the Mitoaction website - they have provided me with so much support. There are no barriers to their giving - whether you live in the States or Spain, there is a group of people out there ready to help. For anyone with mitochondrial disease or suspected mitochondrial disease, I suggest that they become a member and view this video (see link above) or video at the bottom of the page.

Whether Tália does or does not have mitochondrial disease - my eyes have been opened by how many amazing people there are out there building a network for other families and patients. With Mitochondrial Awareness Week approaching, I hope to help spread the word to others out there for Mitochondrial Disease is often known as the invisible disease.

We see so much about war, disasters etc in the world yet we here so little about these amazing people who dedicate their lives to helping others. Whilst sad to see what people go through, the beauty is that people are really standing together. Mitoaction presents a positive way to live with disabilities. The positiveness is truly inspirational.