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.

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!

Talia Eats her First Crisp (July 09)

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.

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.....

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.

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.

Gastroenteritis

Well, before carrying on with our America trip, I am blogging about an awful 48 hours. My family have all been attacked by a violent Gastro bug. Even Tali and Andrew. I so far have been ok but my stomach started growling today. I am determined to befine though. I need to be well.

Yesterday we almost had to rush Tali to hospital - she had not taken any solids in for 36 hours - thankfully though we managed to get some liquids into her. We decided to leave it until the morning. Thankfully she has had a little fruit and toast and sips of water. Lets pray that she keeps it down. The site of her wretching scares me so much. She looks so skinny.

This morning though she is moving and chatting more so fingers crossed.

Thank God for friends and family - my friend Susan whisked off our middle child yesterday as she was better so that I could tend to the rest of te family. Mum came round Friday but I had to keep her away yesterday as I didn't want her to catch the bug - too much risk as she is going to a village in Nepal with no medical resources. She left for the airport this morning but after spending so much time with us, I am worried about her on the plane.

Andthen there is Dad - how I do miss him: He was always here. Such a constant in my life. When there is any turbulence, his very clear logical, dependant personality, is something I miss so much. he was so mathematical, so practical. Sometimes it drove me mad but now I miss his consistency more than ever. If you ever wanted a weighed up situation, he was there.

Time has come to make another important decision - do I continue to send Tali to nursery? I really think that although she loves it, there is too much risk. I will try and organise my own activities and try to attend toddler groups and build up her strength and re-visit the nursery issue in September. In facct my sister-in-law gave me loads of ideas in the States and between these ideas, my stimulation room, swimming and getting mum to do yoga with her when possible, perhaps this could be a new exciting start. Lets really get her strong.

Cleveland Clinic

On the 3rd June, Tália and I waved goodbye to the family and set off on our journey to the States. Apart from crying non-stop for the first two hours, Tália was really good and slept the rest of the journey.

Before we knew it we had landed in JFK. From here onwards I knew that everything would be easier as from here onwards my sister-law would be with me. That was just such a comfort. After the heart-breaking family news, I really was so grateful to have someone with me, someone I could trust and just be myself with. Really, having her with me made my life so much easier and Tália ever so happy, to be the centre of our attention.

My sister-in-law has worked with special needs so she was immediately right in there, stimulating Tália and working especially with her hands and hypersensibility, teaching her to hold food etc. It was ongoing, natural therapy and Talia was in her element.

The Clinic made quite an impression on us - I dont think either of us imagined the magnitude of it all. Our hotel was linked by Skywalks interconecting us to the clinic - we didn't even need to step out. Withtin the structures were cafes, restaurants - it was like a mini village. This was ideal for Tali as after tests, we could just rush back to te hotel room without having to put her in a car and commute for ages.

What does it all mean?

Well, its been a long time since I last wrote. Lots has happened - it seems like an eternity to me. Unfortnately on the 31st May we had some very sad family news. My heart and prayers go out to my cousin and all the immediate family, as she lost her son to a form of meningitis. Zubin was a beautiful, radiant and fun-loving 3 year old boy. A special gift.

Life is so transient and losing a child so young must be so so difficult. It is hard to sometimes understand why we spend our lives working to build our homes and lives and then suddenly someone is taken away from us. Nothing is permanent - I keep on having to repeat this to myself. We all seem so fragile and cannot control anything.

I only wish that I could have been with my cousin at the funeral but as fate should have it, I needed to be in the US with Tali and Tali canot fly to HK as she cannot be in a polluted environment and the smog there is pretty dense.

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!!!!

Difficult week for Tália

Well Thursday last week was brilliant - Mum came with me to take Táli riding and Táli thoroughly enjoyed riding Deci, a big horse. We then went to Ana's and were absolutely amazed when she held on to a wooden trolley and pulled herself to a standing position all on her own. It was exciting and we were on such a high. But this is an emotional roller coaster, filled with high highs and low lows. I guess she was over exhausted but she caught a cold. Now a cold in a normal child is no big deal but in a smallie, it is. She has gone alll floppy and is finding it hard to hold her weight. Her appetite is poor and her muscle tone has been pretty low. So just need to keep on feeding her and keeping her going. Fingers crossed that things get better and that we don´t have to take her to Costa del Sol tomorrow.

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.

Physio with Ana in San Pedro

Have a look at this video - Tália has com eon leaps and bounds and Ana is just fantastic - see her enthusiasm. She makes it so much fun, Tália just cant help but enjoy it.