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.
Showing posts with label Barcelona Hospitals. Show all posts
Showing posts with label Barcelona Hospitals. Show all posts
Sunday, 14 February 2010
Wednesday, 2 December 2009
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.
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.
Monday, 15 December 2008
Moving Forwards
Well - its been some time since I've updated my blog. It has been quite a month with Dad being unwell - full of up's and down's, a real roller coaster ride. But that's another story and perhaps some day, I'll tell it but not now.
Tália has been on her gluten and dairy free diet for a month now and so far so good. As a mum its hard to tell whether its the diet working or if Tália is naturally just growing up but I have to say that a few changes have been noted. Firstly, she seems much happier in physio and speech - she no longer cries so much and seems to be genuinely excited and happy. Secondly, she seems to be sturdier on her feet - not walking but standing. Thirdly, she seems to be communicating better - a few more sounds and just an overall awareness and fourthly she seems taller. So all in all a positive step forwards.
We have made the decision to send her to nursery 3 times a week as of January. I have had this itch again that has made me feel as though things need to move forwards again - we cannot stay stuck in our ways. I feel that interaction with other babies and toddlers is what Tali needs and that will give her the inspiration to walk and talk.
I'll find it hard to leave heras I just adore being with her but I need to help her to adapt to society and expose her a bit to the real world. The toddler group has opened my eyes and I have seen how happy she is there. Also in her physio sessions in San Pedro, her cousin, Indy has been coming with us and now Tali loves it - she actually shows off a little to her baby cousin!!
We have also finally received an appointment for a muscle biopsy and are heading for Barcelona mid-Jan. So I hope to continue posting through the next weeks.....
Monday, 3 November 2008
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.
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.
Tuesday, 29 July 2008
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.
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.
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