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.
Sunday, 14 February 2010
Wednesday, 27 January 2010
YES!!! Finally reached the big 7!!!
Well, so much time has passed since I last wrote - the time of the awful swine flu and illnesses Tália faced through November and December. However the last month has been extremely positive and the New Year inspired me to start afresh and throw myself into focusing on Tália's therapies.
My New Year's resolutions are to get her walking, talking but more than anything else keep her healthy and pray that she continues to be the contented and happy girl that we all adore. But as you all know, my life is a roller coaster - I have some of the most amazing days and some frightening days.
Swine flu saw Tália fall back down to 6 kilos (with clothes on) and I have to admit I felt very discouraged. My heart plunged to see the endless hours of work, the hard earned weight just disappear in days. But, amazingly enough, she has miraculously bounced back. When she had swine flu, I really did not know which way my journey would go - where would we end up, how much could Tália's little, tiny body take. So I put off weighing her for a while and then I noticed that she was slightly chubbier - her trousers seemed tighter and my arms felt tired after carrying her for a while. And guess what???? She has passed the 7 kilo mark - yes in 1 month, she not only recuperated her weight but put on the most ever in a month since she was born. I am ecsatic, it is a miracle. It is like the sign I was waiting for to help me with my decision whether to tube feed or not.
I am trying though to take all this in my stride, staying excited but maintaining calm as my life is filled with so many ups and downs that I need to try and stay positive but realistic.
Despite the change in weight though, the last month has seen Tália reach many milestones.
- Tália has learnt how to eat and feed herself using her hands - previously she couldn't pick things up and refused to touch food. I thought I may feed her purees forever but now I get such pleasure out of seeing her digging into her Spanish Omelette and chomping at her chocolate whilst being able to wolf down a Happy Meal.
- Tália's speech - whilst still delayed and no very clear words, she is trying to communicate. Tália is making more sounds and seems to be more switched on.
- Muscle tone - Tália's tone has improved. November and December were terible, she could barely sit but now we have her standing again and I am determined to get her walking. She has been using a machine like a power plate, called vibrosphere, recommended by my incredible physio,Ana Duarte. My in-laws and mum bought the machine for her and she has been on it nearly every single day and the vibrations seemed to have made a real difference to her muscle tone.
-Sleeping in a bedroom with her sister - we no longer have Tália sleeping with us, we finaly had the guts to move her and she sleeps beautifully with her sister. So we have gained some space in our room plus she is closer to being more independent. It is easy to shelter a special needs child, easy to baby one - especially one so miniature - but we want her to feel older and independent.
My New Year's resolutions are to get her walking, talking but more than anything else keep her healthy and pray that she continues to be the contented and happy girl that we all adore. But as you all know, my life is a roller coaster - I have some of the most amazing days and some frightening days.
Swine flu saw Tália fall back down to 6 kilos (with clothes on) and I have to admit I felt very discouraged. My heart plunged to see the endless hours of work, the hard earned weight just disappear in days. But, amazingly enough, she has miraculously bounced back. When she had swine flu, I really did not know which way my journey would go - where would we end up, how much could Tália's little, tiny body take. So I put off weighing her for a while and then I noticed that she was slightly chubbier - her trousers seemed tighter and my arms felt tired after carrying her for a while. And guess what???? She has passed the 7 kilo mark - yes in 1 month, she not only recuperated her weight but put on the most ever in a month since she was born. I am ecsatic, it is a miracle. It is like the sign I was waiting for to help me with my decision whether to tube feed or not.
I am trying though to take all this in my stride, staying excited but maintaining calm as my life is filled with so many ups and downs that I need to try and stay positive but realistic.
Despite the change in weight though, the last month has seen Tália reach many milestones.
- Tália has learnt how to eat and feed herself using her hands - previously she couldn't pick things up and refused to touch food. I thought I may feed her purees forever but now I get such pleasure out of seeing her digging into her Spanish Omelette and chomping at her chocolate whilst being able to wolf down a Happy Meal.
- Tália's speech - whilst still delayed and no very clear words, she is trying to communicate. Tália is making more sounds and seems to be more switched on.
- Muscle tone - Tália's tone has improved. November and December were terible, she could barely sit but now we have her standing again and I am determined to get her walking. She has been using a machine like a power plate, called vibrosphere, recommended by my incredible physio,Ana Duarte. My in-laws and mum bought the machine for her and she has been on it nearly every single day and the vibrations seemed to have made a real difference to her muscle tone.
-Sleeping in a bedroom with her sister - we no longer have Tália sleeping with us, we finaly had the guts to move her and she sleeps beautifully with her sister. So we have gained some space in our room plus she is closer to being more independent. It is easy to shelter a special needs child, easy to baby one - especially one so miniature - but we want her to feel older and independent.
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.
Thursday, 26 November 2009
Swine Flu confirmed
Well, we got the results back and believe it or not they came back POSITIVE FOR swine flu. We have now brought Talia home and she is doing ok. She is weak and very coldy - she has lost her voice but her colour is so much better since they put her on the drip and rehydrated her.
It is so good to be home. Talia did not sleep well in the hospital - she found the drip very disturbing and cried all night complaining by saying Ay! Ay! My poor baby was very unhappy. Thankfully though they prepared everything for us at the hospital with the carnicor she needs etc. We have decided against Tammiflu as Tali has now had the flu for a week and the fevers have calmed down significantly. Weighing up the possibe side effects of possible diarrhoea and vomiting, we decided against it. However the Drs have told us to return if she takes a turn for the worst.
Our physio, Ana hs been amazing, she spoke to the homeopathic Dr and and bought us loads of vitamins and suplies to boost Talia's immunity and help her cough.
It is so good to be home. Talia did not sleep well in the hospital - she found the drip very disturbing and cried all night complaining by saying Ay! Ay! My poor baby was very unhappy. Thankfully though they prepared everything for us at the hospital with the carnicor she needs etc. We have decided against Tammiflu as Tali has now had the flu for a week and the fevers have calmed down significantly. Weighing up the possibe side effects of possible diarrhoea and vomiting, we decided against it. However the Drs have told us to return if she takes a turn for the worst.
Our physio, Ana hs been amazing, she spoke to the homeopathic Dr and and bought us loads of vitamins and suplies to boost Talia's immunity and help her cough.
Could Talia have Swine Flu?
23rd November 2007
Well, here I am in the Hotel del Sol, looking out the window of my five star room.
Back to life, back to reality… I think I should write a visitors guide to hospitals. By the way I resemble an alien – poor Talia had the fright of her life when she awoke from her sleep - her mum had turned into the green boggy monster. For here siteth I dressed in green overalls and a mask, looking like an alien from out of space, lest I should catch the dreaded lergy from the baby who practically slept, breathed and peed over me yesterday – weird really, especially since she got the flu from me!!!!!
Anyway she has been tested for the dreaded GRIPE A or dare I mention S----- flu. We, our whole family were ill for the last week with high fevers, coughs, sore throats and achy bodies and I did my best to avoid Talia – I was terrified she would get ill. She spent one day with her granny, one day with Susan and the last few with me…. She seemed to be battling well until she stopped eating yesterday and started getting all chesty. That was when I knew that she needed to be hospitalised. She wouldn’t even take water.
Well she is now on a drip, poor baby. She had a hard time – it took them about 40 minutes to take her blood and put the drip on – I wasn’t allowed in with her and all that I could hear were her heart-wrenching cries. Why does my poor baby have to go through this – she is my angel.
Well, here I am in the Hotel del Sol, looking out the window of my five star room.
Back to life, back to reality… I think I should write a visitors guide to hospitals. By the way I resemble an alien – poor Talia had the fright of her life when she awoke from her sleep - her mum had turned into the green boggy monster. For here siteth I dressed in green overalls and a mask, looking like an alien from out of space, lest I should catch the dreaded lergy from the baby who practically slept, breathed and peed over me yesterday – weird really, especially since she got the flu from me!!!!!
Anyway she has been tested for the dreaded GRIPE A or dare I mention S----- flu. We, our whole family were ill for the last week with high fevers, coughs, sore throats and achy bodies and I did my best to avoid Talia – I was terrified she would get ill. She spent one day with her granny, one day with Susan and the last few with me…. She seemed to be battling well until she stopped eating yesterday and started getting all chesty. That was when I knew that she needed to be hospitalised. She wouldn’t even take water.
Well she is now on a drip, poor baby. She had a hard time – it took them about 40 minutes to take her blood and put the drip on – I wasn’t allowed in with her and all that I could hear were her heart-wrenching cries. Why does my poor baby have to go through this – she is my angel.
Monday, 2 November 2009
Feverish Baby
Make the most of the Ups and they'll carry you through the Down's
My poor Tali has really had a difficult couple of nights - her temperature has soared up and fluctuated between 38 and 40. I stay by her side and just pray so hard for her fever to break. Last night we called helicopteros sanitarios just to make sure she was ok and didn't need to be hospitalized. They just said to keep giving her parecetomol and watching her - if her situation gets worse, then to take her to her paediatrician or hospital. It is hard to know what to do as we have no diagnosis. We just have to rely on our instincts and follow her lead. Even the medics don't seem to know what to suggest. But between Calpol, Belladona and homeopathic flu remedy, I am hoping to get her back to shape asap.
Thankfully she is eating - although only very little but at least she is staying hydrated. She is a very good girl and barely complains - she looks so tired and when she is so weak, she looks alarmingly skinny. Still, I know she will get out of this. Every child has colds and flus. Unfortunately Tali's muscle tone suffers but we will re-build it up again after this nasty bug has passed. She just needs rest, rest, rest ....so we are housebound!!!
Just keep your fingers crossed that she maintains her weight - we have worked so hard to get her up past the 6kg mark, I don't want to fall back again. If she does, tube feeding will definitely need to be considered. So we're back on the roller coaster!!!
Sunday, 1 November 2009
High Fevers, no symptoms
Well Tália has been doing well - lots of physio, lots of stimulation and just generally having fun. She went to her first Halloween Party dressed as a skeleton with her swimming group. Bless her, she really does make an authentic and cute skeleton - will try to get some pictures.
Despite doing well though, last Saturday she came down with a very high temperature - we are talking around 40 - I tried to keep it down with Calpol but actually finally managed to curb the temperature by giving Talia a homeopathic flu remedy which instantly worked wonders. By Sunday afternoon, she looked herslf again and she has had a good week, albeit the first few days her muscle tone was slightly down. Now this is the weird bit, last night (exactly 1 week after the last episode), her fever shot up again. She looked bleary eyed and her body seemed to radiate heat. What on earth is going on? When she has these bouts I am sure that we are going to rush her to hospital but she seems to fall in and out of them so quickly. So fingers crossed that this time round the fever will disappear quickly.
The homeopathic remedies have really helped me through these bouts. She had one spoon of calpol last night but I soon started using Belladona and the homeopathic flu remedy. It seems to work faster. I have been doing some research on these remedies and am really more and more fascinated by how they take affect. Seeing is believing. I never would have had such faith in these remedies if I hadn't seen direct results. Unfortunately I am one of those people who needs to understand why something works. The book I have on homeopathic remedies is incredible. I have never seen such a detailed guide - it does not just give you a cure for a fever or sore throat but defines the different types first. For example under fevers, under Belladona, this appeared:
(Extract taken from Homeopathic Medicine for Children and Infants by Daba Ullman)
BELLADONA
When children have a sudden onset of high fever with flushed faces and reddened lips, this remedy is the first to consider. These children also tend to have hot heads and cold extremities. The skin is usually so hot, it radiates heat, (you can feel it by placing your hand a couple of inches away from the skin). The fever is a dry heat, without perspiration. The child tends to have a strong and bounding pulse. At night, the temperature gets its highest, making the child agitated, sometimes delirious, perhaps leading her to hallucinate.
The description above precisely describes Tália's symptoms. Tália's inability to convert food into energy always makes me concerned to give her medications. I do not known how strong her liver is - I do not really know what her body can tolerate. Where possible I will try to focus on diet and natural remedies to help her through difficult times. Of course medicine is necessary and sometimes she needs to have it. I just don't believe in extremes. I believe that both allopathic medicine and natural medicine have their place in society and that they should be complimentary to each other.
Despite doing well though, last Saturday she came down with a very high temperature - we are talking around 40 - I tried to keep it down with Calpol but actually finally managed to curb the temperature by giving Talia a homeopathic flu remedy which instantly worked wonders. By Sunday afternoon, she looked herslf again and she has had a good week, albeit the first few days her muscle tone was slightly down. Now this is the weird bit, last night (exactly 1 week after the last episode), her fever shot up again. She looked bleary eyed and her body seemed to radiate heat. What on earth is going on? When she has these bouts I am sure that we are going to rush her to hospital but she seems to fall in and out of them so quickly. So fingers crossed that this time round the fever will disappear quickly.
The homeopathic remedies have really helped me through these bouts. She had one spoon of calpol last night but I soon started using Belladona and the homeopathic flu remedy. It seems to work faster. I have been doing some research on these remedies and am really more and more fascinated by how they take affect. Seeing is believing. I never would have had such faith in these remedies if I hadn't seen direct results. Unfortunately I am one of those people who needs to understand why something works. The book I have on homeopathic remedies is incredible. I have never seen such a detailed guide - it does not just give you a cure for a fever or sore throat but defines the different types first. For example under fevers, under Belladona, this appeared:
(Extract taken from Homeopathic Medicine for Children and Infants by Daba Ullman)
BELLADONA
When children have a sudden onset of high fever with flushed faces and reddened lips, this remedy is the first to consider. These children also tend to have hot heads and cold extremities. The skin is usually so hot, it radiates heat, (you can feel it by placing your hand a couple of inches away from the skin). The fever is a dry heat, without perspiration. The child tends to have a strong and bounding pulse. At night, the temperature gets its highest, making the child agitated, sometimes delirious, perhaps leading her to hallucinate.
The description above precisely describes Tália's symptoms. Tália's inability to convert food into energy always makes me concerned to give her medications. I do not known how strong her liver is - I do not really know what her body can tolerate. Where possible I will try to focus on diet and natural remedies to help her through difficult times. Of course medicine is necessary and sometimes she needs to have it. I just don't believe in extremes. I believe that both allopathic medicine and natural medicine have their place in society and that they should be complimentary to each other.
Wednesday, 7 October 2009
A Positive Few weeks
Well, we are back in the thick of it and I am loving it - horse-riding in Mijas, swimming with Naalie of Swim bebe Swim, regular sessions with Ana in San Pedro and Aprona for physio and speech. Tália is going through a good phase and I know that we need to make the most of it on this journey of peaks and troughs.
She has put on weight and is now at 6.4 Kilos. More to the point she is a lot more communicative and I am sure that she is trying to chat - I heard her say 'duck' today during baby swimming. The swimming for her is fantastic - so stimlating. Natalie's energy really brings out the best in Tali. She is also surrounded by other kids and Talia loves that interaction. Her muscle tone seems to be improving and she is getting cheekier by the day - dare I say the terrible twos are actually starting to shine through. Although for me the 'terrible twos' are 'terrific two's' as Talia is expressing herself. I am going to see if I can film Tali swimming next time - I would love to show you all just how happy she is in the water.
We saw our paediatrician from Hospiten today as I needed to take my eldest to see him. He was impressed by Talia's progress. It is so nice to see some of the key Drs who have helped us in this journey. So many people who care. Whilst we still have no diagnosis, I am starting to realy wander if we really need one. Let us focus on each day as it comes. Who knows what tomorrow will bring???
She has put on weight and is now at 6.4 Kilos. More to the point she is a lot more communicative and I am sure that she is trying to chat - I heard her say 'duck' today during baby swimming. The swimming for her is fantastic - so stimlating. Natalie's energy really brings out the best in Tali. She is also surrounded by other kids and Talia loves that interaction. Her muscle tone seems to be improving and she is getting cheekier by the day - dare I say the terrible twos are actually starting to shine through. Although for me the 'terrible twos' are 'terrific two's' as Talia is expressing herself. I am going to see if I can film Tali swimming next time - I would love to show you all just how happy she is in the water.
We saw our paediatrician from Hospiten today as I needed to take my eldest to see him. He was impressed by Talia's progress. It is so nice to see some of the key Drs who have helped us in this journey. So many people who care. Whilst we still have no diagnosis, I am starting to realy wander if we really need one. Let us focus on each day as it comes. Who knows what tomorrow will bring???
Monday, 28 September 2009
So much to tell...
Well where oh where do I begin??? Its been a long time since I've written. After a fabulous July we found ourselves in Liverpool at the begiining of August for the Walking With Giants annual conference. This was absolutely amazing. You can see a slide show on the right handside of the screen. The conference was beautifully organised and focused on families and the importance of families.
I just thought it was incredible and the best thing for my other two daughters as they had a ball with the other siblings. It was important for them to see that they weren't alone - to see other kids like them with young siblings who had some form of short stature. It was emotional. What I loved most was the positiveness that surrounded us. So much hardship that people face, endless hospital visits, tube fed kids and yet these families were so loving, so happy to enjoy the moment and this really was incredible to watch. Everyone was there to make the best of a situation, not the worst.
Unfotunately the rest of August proved difficult for Talia - when we got back she seemed to start teething and she actually lost a bit of weight in August. Luckily, we had a lovely holiday in Portugal at the end of August and this took the pressure off me - my husband and I shared the feeding (which was difficult - since when do kids want to eat when their molars are coming out???). But alas, Talia does have the luxury of beng able to lose weight.
Despite the hiccup in August and a difficult beginning to September, a trip to the UK to check out Tali's hip semed to be just the medicine. I do not know whether it was the change in temperature or her granny and mum's constant attention, but she seemed to pick up again. (Admitedly granny constantly chatted with her and played her favourite game, 'round and round the garden' with her.Well fingers crossed but the last week has just been pretty amazing - Talia seems to be saying her first words - baby, up etc. i just can't believe it. She is also signing a bit. I see such a difference again. The DRs in the UK where so positive so we came back home full of hope - Talia does not need a hip operation at present. Thank God. I was really woried about surgery and setting her back.
Here is a picture of her on a swing today.
Sunday, 16 August 2009
Up on her Own two Feet May 09
To view this one, you may need to turn your computer around. My cousin sent me this clip of Talia in her physio sesion in May - look at the progress!! We'll have her walking soon!
Tuesday, 4 August 2009
Talia grows and Passes 6kg Mark
At the end of June, my husband and I visted a paediatrician who is also a homeopathic Dr. Seeing that as yet we have had no answers from traditional medicine we decided to try a different route. My physio Ana has seen miracles ocur with this Dr and as I trust and respect her tremendously I decided to vsit this hmeopathic DR in Malaga. She has treated a child with brittle bone disease and achieved much more than Drs ever expected. The child is now in main stream school and walks and talks and has hardly any fractures. By complete coincidence, I knew this child's mum from a business perspective long before realizing she also had a child with special needs.
Well after visiting this homeopath in Malaga and having given Talia loads of vitamins and minerals, I am astounded by the results - Talia has moved from 5.9kilos to 6.14 in just three weeks - absolute miracle. And, get this - she has grown 5 cm to 74cm. I was so shocked that I asked the Dr to measure her several times over so that I could comprehend it.
I am determined to avoid tube feeding and had set myself a goal of 6 kilos by October . Wow - fingers crossed that everything continues to improve at this pace.
Well after visiting this homeopath in Malaga and having given Talia loads of vitamins and minerals, I am astounded by the results - Talia has moved from 5.9kilos to 6.14 in just three weeks - absolute miracle. And, get this - she has grown 5 cm to 74cm. I was so shocked that I asked the Dr to measure her several times over so that I could comprehend it.
I am determined to avoid tube feeding and had set myself a goal of 6 kilos by October . Wow - fingers crossed that everything continues to improve at this pace.
Cleveland Clinic Results
Well, results from the Cleveland Clinic have rolled in fast. The main findings have been a vitamin D deficiency which we can try and correct immediately and a deletion in chromozome 22(del 22q12.3, 281.8 Kb, overlaps LARGE). To be honest I dont really know exactly what that means but Andrew and I have just sent our blood over to be tested to see whether this deletion is significant or whether it is just the way our genes are (a polymorphism). The results will probably pose some important answers and enable us to know whether our other two girls may be carriers. So as yet no real diagnosis, just a few clues.....
Monday, 27 July 2009
To Tube Feed or Not to Tube Feed
The biggest issue that I had to face in the US was the question of tube feeding. I was expecting the subject to be brought up but despite this expectation, it still hit me in the pit of the stomach when Dr Parikh and his colleagues recommended that Talia be nocturnally tube fed via a g-tube. To be honest the thought of feeding her this way makes me feel a little ill. But why am I so against it?? To be honest, for months when Talia was 4, 6, 8 months, I asked for it, I suggested it, I wanted it. But at the time, Talia was feeding badly due to her low tone and inability to suck an swallow. However, now, my darling baby loves her food, relishes it even. From crisps to avocado, mealtimes - yes they take long, but they are well worth it. So I have many reservations as it has taken me a long time to get her to learn to chew and swallow. My husband was really tough on her refusing to feed unless she opened her mouth and now she cando it beautifully. She eats an average of 1000 kcals a day and that of a two year old should be 1200 but remember she is the weight of a 2 month old!! Wont feeding at night make her lose her appetite in the day???? WHAT ABOUT HER MUSCLES? Feeding is a great way to exercise the mouth muscles - will she get lazy??? BUT worst of all for me is the thought of putting her under a general anaesthetic to carry out the procedure. Tália is extremely sensitive to it and I feel it is a very big risk.
On the other hand, I have to look at pros, look at cases. The nutritionist in the States said that the procedure was very simple. They agreed to support me from abroad - answer any questions etc. They really were so giving and warm and happy to let me ask as many questions as I wanted.
Could my closed minded approach be bad for Tali? I realize that I need to consider this option carefully and need to study it. In order to do so, I have contacted the gastro dr here in Malaga and after chatting about it we have decided to give Talia until October/November to make a deision. The procedure here is pretty much the same but the doctors think I should work a bit more with the diet side of things prior to making a decision. Also in August we are attending a Walkng with Giants Conference. Many children attending will be tube fed. It will be good to get some first hand advice and opinions from parents and kids.
Just now I am gong to do everything in my power to build up Tali's strength and weight. I know that when the time is right, I willl know what decision to take. As Talia loves swimming, I had already decided not to do anything over the Summer. Our lives are here to enjoy, to make the most of. I want her to enjoy the beach and pool. She is such a happy go lucky and happiness is key.
On the other hand, I have to look at pros, look at cases. The nutritionist in the States said that the procedure was very simple. They agreed to support me from abroad - answer any questions etc. They really were so giving and warm and happy to let me ask as many questions as I wanted.
Could my closed minded approach be bad for Tali? I realize that I need to consider this option carefully and need to study it. In order to do so, I have contacted the gastro dr here in Malaga and after chatting about it we have decided to give Talia until October/November to make a deision. The procedure here is pretty much the same but the doctors think I should work a bit more with the diet side of things prior to making a decision. Also in August we are attending a Walkng with Giants Conference. Many children attending will be tube fed. It will be good to get some first hand advice and opinions from parents and kids.
Just now I am gong to do everything in my power to build up Tali's strength and weight. I know that when the time is right, I willl know what decision to take. As Talia loves swimming, I had already decided not to do anything over the Summer. Our lives are here to enjoy, to make the most of. I want her to enjoy the beach and pool. She is such a happy go lucky and happiness is key.
Saturday, 11 July 2009
Meeting the Doctors
Well its been a while since I wrote. So much seems to have happened. Each day seems so full to me - just not enough hours in the day. I realize that I started writing about our trip to Cleveland but just stopped. So much has happened since but I will try to summarize as best possible.
Meeting the Doctors:
Meeting Dr Parikh felt a bit like meeting a world famous actor. I had read so many of this man's articles on the web, seen so much about him on the UMDF (united mitocondrial disease foundation) site and more than anything used the mito handbook and emergency letter produced by the UMDF with Cleveland Clinic. I seriously felt as though the literature from them was a little light in the dark. I was convinced that had it not been for these documents, information on the web, I would be way behind. I also was sure that Talia's last hospital recovery had been thanks to this literature - so I enetered the appointment with so much expectation. Needless to say, he more than lived up to them.
My sister-in-law completely took charge of Tália, singing, playing, even feeding her at one point. She knew how important these appointments were to me. I arrived with a notebook bursting with questions, with a folder of notes bursting at the seams news and a dictaphone, looking more like a ews reporter than a mum, I guess. Probably a Drs greatest nightmare - opinionated mum, wanting to understand everything and unwilling to stop - but hey what can I do.
Dr Parikh sat with me for a good two and a half hours and his patience was astounding. He literally sat down and chatted me through his thinking process and put it all in layman's terms. This was what I needed. Someone to talk to, someone to question, someone who wouldn't laugh at my perhaps, basic questions. In fact, he empathised warmly and immediately I felt at ease. How my sister-in-law sat through it with Talia and did not even bat an eyelid or mention the time is beyond me. Now that I am home and re-living it, I just really am beginning to realize how much she did for me. I was so focused on the meeting that I just left it all to her. Talia felt so comfy with her. So happy.
Clearing a few Doubts
One of my key reasons for going to Cleveland was to find out whether the diagnosis was correct. Did Talia really have a multiple complex deficiency? Whilst I was led to believe she had primary mito, some things didn't stack up. Her complete doll like appearance and stature for one. I searched for images on the web. I searched for parents with kids with mito but couldn't pigeon-hole her. Then I discovered MOPD and Russel Silver and whilst many Drs say she does not have dwarfism, I am still unconvinced. Dr Parikh confirmed to me that whilst nothing was clearcut, that my line of thinking could be correct - the mito could actually be secondary ( eg a symptom to something else)and probably was. Naturally, in order to get to the bottom of this, more testing would need to be done to eliminate syndromes such as prader-willi etc.
Meeting the Doctors:
Meeting Dr Parikh felt a bit like meeting a world famous actor. I had read so many of this man's articles on the web, seen so much about him on the UMDF (united mitocondrial disease foundation) site and more than anything used the mito handbook and emergency letter produced by the UMDF with Cleveland Clinic. I seriously felt as though the literature from them was a little light in the dark. I was convinced that had it not been for these documents, information on the web, I would be way behind. I also was sure that Talia's last hospital recovery had been thanks to this literature - so I enetered the appointment with so much expectation. Needless to say, he more than lived up to them.
My sister-in-law completely took charge of Tália, singing, playing, even feeding her at one point. She knew how important these appointments were to me. I arrived with a notebook bursting with questions, with a folder of notes bursting at the seams news and a dictaphone, looking more like a ews reporter than a mum, I guess. Probably a Drs greatest nightmare - opinionated mum, wanting to understand everything and unwilling to stop - but hey what can I do.
Dr Parikh sat with me for a good two and a half hours and his patience was astounding. He literally sat down and chatted me through his thinking process and put it all in layman's terms. This was what I needed. Someone to talk to, someone to question, someone who wouldn't laugh at my perhaps, basic questions. In fact, he empathised warmly and immediately I felt at ease. How my sister-in-law sat through it with Talia and did not even bat an eyelid or mention the time is beyond me. Now that I am home and re-living it, I just really am beginning to realize how much she did for me. I was so focused on the meeting that I just left it all to her. Talia felt so comfy with her. So happy.
Clearing a few Doubts
One of my key reasons for going to Cleveland was to find out whether the diagnosis was correct. Did Talia really have a multiple complex deficiency? Whilst I was led to believe she had primary mito, some things didn't stack up. Her complete doll like appearance and stature for one. I searched for images on the web. I searched for parents with kids with mito but couldn't pigeon-hole her. Then I discovered MOPD and Russel Silver and whilst many Drs say she does not have dwarfism, I am still unconvinced. Dr Parikh confirmed to me that whilst nothing was clearcut, that my line of thinking could be correct - the mito could actually be secondary ( eg a symptom to something else)and probably was. Naturally, in order to get to the bottom of this, more testing would need to be done to eliminate syndromes such as prader-willi etc.
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