Reflux and food = puke!

Hey all sorry it has been so long, it has been a difficult couple of weeks. Unfortunately Amélie's reflux took a nasty turn for the worst and we really have been having a hard time with it. She was back with Dr.N on Monday past and we were explaining to him that there wasn't any type of dairy that she can handle. Those medicines listed in the last post seemed to be making her worse as well, so he said he wanted to try her on this supplemented non dairy or protein milk. So the next day I gave her the milk..... 1½ozs later and she was puking! She went to see Santa about an hour later and began puking so badly that we had to leave and she was in the shower for about 2 hours! We put her in the shower when she is getting sick as it calms her down and washes the sick away stopping her mouthing it, making her puke more! We have been going through her diet with a fine tooth comb and have been able to settle her sick if we stick to the following; White toast with margarine (butter makes her sick), pastas with oil, potatoes of any type as long as the sick is off, carrots, green beans, peas, chicken, fish fingers, white fish, mince, chilli, rice, water with a little diluted juice. And that is basically all! Hard ain't it? She still takes her fish oils in her horlicks drinks but now it is made with water not soya milk. She lost ½ a kilo in a month so we are now concerned with her growth but I am starting her on a food supplement in the morning so that she is getting all her vitamins and minerals because she ain't getting them from her food!

Anyway on to the big day at hand, Christmas. She loved Santa, I couldn't believe that she liked him, so much so she gave him an 'awww' which in Kiki's language is love. She really took to him and now when she sees him on TV or in a book she just stares and smiles. She hasn't paid hardly any attention to the Christmas tree and hasn't attempted to pull it down or even touch it really, I can't wait to see her face on Christmas morning!

AND on a final note she had her trial with the Tobi eyegazer last week. All I have to say is it was magical watching her make her own choices. We will be fund raising for this in the new year so would appreciate keeping us in mind when it comes around to that time, and on that I want to wish you a very merry Christmas and a fantastic new year, keep hoping and praying for that cure to come! Xxx

Difficulties!!!

Hey everyone, sorry again about the long absence. Amelie has been a little under the weather lately. Last weekend she had the vomiting bug (which affected both ends :D !) and her refux had become unmanageable.  In an earlier post I mentioned that she couldn't seem to keep different foods down, well it had become ridiculous and over last weekend she was unable to eat anything, she became so weak that she stopped walking over the weekend. Really scary thinking about her losing that ability now that she has gained it. Well on Monday I decided to ring her pediatrician Dr.N, he was very good and slipped her into his clinic that afternoon. He confirmed she had reflux and prescribed her 2.5mls of adult Gaviscon, 1.68mls of Primacine  and 5mls of Omeprazole Suspension and also ordered a Barium test but will cancel it if the meds sort the problem as he doesn't want to give her radiation if it isn't needed. So so far this week she is doing alot better, she had been eating far better and has started to get her strength back, and she is sleeping well again (Thank God).

Last week she was seen by her Physio and he was very impressed with her steps and even said that in all honesty he didn't expect her to be walking by herself this soon due to her muscle tone, so he was delighted, as was I! He suggested we buy her a comfy chair to stop her sitting on the ground and encourage her to get up and walk from sitting position. So I got one from Smyths, as you can see I think you will agree that she really likes it!

She hasn't been doing her horse riding of late as the weather has been a nightmare but she will be getting back to it soon, but she has been going to P's house for her Jack and Jill hours and in those 4 hours I waste my time cleaning the house just so it can be dirtied in about 20 mins of them all being home! I think I need do something better with my time! HA....

Amelie has been sounding out different sounds lately, she is saying the b sound (new), and she is starting to say "down" as well as up. I would love to hear her say mummy, hug or I love you! Maybe someday..........

But before I go I just want you all to remember that although we are living with Kiki's condition we need you remember that her condition can be fatal, only last week we lost another little angel Emma Reilly of Maryland, USA. She was 5, was doing good but took a turn for the worst and died we need to change this. Please watch this video, and remember this is Amelie Kiki McCormack! Thanks. xxx

http://vimeo.com/52749635 Your support is her future.

 (please see www.jackandjill.ie ) 

Hair today, Gone tomorrow!

Food? Amelie loves her food however we have a big problem at the moment with breakfast, no matter what we give her in the morning she is refluxing for up to 4 hours after it. We have tried all breakfast things, we have changed her milk back to Soya Milk, gave her fruit instead of wheat based food, brown and white toast, sausage, bacon (She doesn't like eggs)... We have tried so many things and still she keeps puking. Really don't know what to do? We have found that Croissants go down well so maybe that would be fine? Very high in fat but she has lost some weight... And a little update on this situation it hasn't gotten any better! I think a phone call to Dr.N maybe in sight!

She said to me the other day "me some" while looking at my lunch and then "bit" when looking at her crisps! She has been really trying to make new sounds with her mouth, saying "Hu", "hat". Although this isn't good enough for her health visitor who told me they aren't real words.... This coming from a woman who can't seem to google Rett Syndrome to stop herself asking me stupid questions like "Any words yet?" No joke she asked me again yesterday when she ran into me in the doctors! I mean WTF??? Oh well Amelie is doing amazing stuff and anything she keeps during regression will most likely stay for good, maybe the fish oils are working!!! She ended up going for her 2 year developmental??? I know! Stupid, and the PHN asked was she kicking a ball, building blocks and also was she able to play make believe? When I promptly answered no Kiki got annoyed like she understood we were being negative about her, she I turned her around to look at me and I said to her don't worry Amelie, you are doing just great and you are fab! She looked at me put her head on my chest and said "aww". The little mite xxxx

After a few weeks of watching her becoming more and more reliant on mouthing to sooth her I began to start worrying. Amelie has always mouthed her hair but it had become very aggressive, so much that she was causing a bald patch on her right hand side, her beautiful curls were causing her to self harm again. After agonizing for a few weeks, and asking all the other parents of Rett kids on FB I decided the best thing I could do was cut her hair! So on Wednesday of last week I asked my sister to get her an appointment at her hairdresser's and we did it! Her lovely long hair has gone! She has been sheared, she has a little pixie hair cut now. You can really see her features now too, but I do miss her lovely hair but I don't miss the constant mouthing!

Amelie's beautiful hair before

Amelie at the hairdressers 

Amelie just after her haircut. No more curls :(

Halloween was also on in the past week, Amelie enjoyed the food but I don't think she really liked all the darkness and candles. She wore a witches dress but as it was very cold and damp we decided that she should stay at home rather than go Trick or Treating. She loved the Halloween decorations so I am betting she is going to love Christmas!!!

Arrr I hate teeth grinding!

I will mention this again.... I HATE teeth grinding!!! Only a week ago myself and Stephen were just saying that we hadn't heard Amelie grinding her teeth in a long time, she must have heard us because that is all she is doing!! Ohhhh its maddening. She is also mouthing her hair so much more too. She pulls her hair out constantly and mouths its... It stinks! Soooo anyway back to how she is doing. Well she went to her OC on Monday and is doing good, but her grinding is a problem so I was told to order chew toys for her, so when she feels the need to grind stick this tube in her gob and she can chew on it. We were discussing her pushchair and she suggested that we maybe look into getting her one with better feet support, if we wanted we could get MF (her OC) to get her one, but as I said to her that I really didn't want one that LOOK crappy so she then suggested that we buy one.... €700????? Ermmm Our Mclaren will do for the now! ha... I have ordered her a load of sensory toys, balls and noisy things from a shop called ThinkingToys.ie so this week has been a real reality check that she has special needs... Boooo.... (Like I had forgotten) ha. Her sisters helped put her to bed a few time this week (Oh holy mother of God)... Fun!! Not! Lots of screaming and fighting ha she did fall to sleep though. A Speech and Language therapist came into our mother and toddler group last week and I could have smacked her. She didn't mean to be ignorant but started to yap on about what a child WOULD be doing at aged 2 etc.. I told her my child had Retts and she looked through me! I could have boxed her! I need to grow a thicker skin I think. I have also been looking at prices for our trip to Italy next year, and now wondering about travel insurance for a kid with SN, bet that won't be cheap. So the next few days sees horse riding, trips to Navan and Dublin and hopefully her toys come this week. A bit of a slow one this week but hopefully her stepping will get better, (which she has been doing more and more) and she gets over her cold soon. Keep up the good work darling and we will keep hoping for a cure. x

Missing in Action!

Hey all sorry we have been gone for two weeks, thinks got very busy there! Well the big news first, Miss Kiki took her first steps yesterday Sunday 7th October 2012 at 4.20pm, and I missed them! HA! But Stephen was here and witnessed them. Then all evening she spent her time going into standing position in the middle of the floor, something she has NEVER done and trying to step! She did two steps for me then, we were SOOOO excited... Long time coming!
We spent the weekend in Athlone at  The Rett Syndrome of Ireland's Family Weekend. We had a nice time (when the two bigger girls weren't driving us bananas). We learned a lot there. We learned that Amelie has Vacant Episodes due to Retts and not epilepsy which was a MASSIVE relief. We also met with a Speech and Language therapist who specialises in Retts, she gave us some great pointers and some good ideas on how to communicate with Amelie. We also met Rachael Bloom another Rett mum but also an advocate to all the parents in regards to all the research being done at the moment. It really does give parents hope! The rest of the weekend was a chance for us to meet up with other parents and their daughters, the was one little girl there who was walking great, talking in full sentences, I honestly didn't think that she Rett's until later on when I noticed her pushchair, and over heard her folks talking. I was just amazed. While there we all got to hold the Sam Maguire (Gaelic Football Cup the All Ireland winners get), the McCarthy Cup (Hurling Cup that the All Ireland winners get) and the Heiniken Cup ( the Rugby cup).... Well Stephen was well happy! :-)

Amelie went swimming in the hotel's hydro swimming pool, and LOVED it! So I think we have discovered that Amelie is a snob and doesn't like public swimming pools! haha No in all honesty I think she doesn't like the acoustics and sheer size of public swimming pools, so we may have to keep attending these types of pools, lucky there is one in the Cavan Crystal hotel.

We did get her to Horse-riding two weeks ago, but the weather has been crappy so haven't had her back, but I plan on getting her out this week. She loved it, she hugged Buttons (the horse) looked all around her and just really enjoyed herself. She only did it for about 15mins but it wacked her out.

She has also continued her adventures on the toilet. Every time we put her on it she does something, the other day in the hotel she went number 2 BIG TIME! (Sorry too much info haha) she we put her in the bath with the girls, and there was lots of laughing coming from the bathroom, when all of a sudden I heard Grace shouting "she's pooed"!!! Scarlett was saying "no she hasn't"......... "Arrrrr, yes she has"! We ran in to find poo in the big bath! haha.... And Stephen found himself back at work! Teehee Only messing Stephen! But I swear I then nearly wet myself watching the girls on the side of the bath like Jaws was in the bath! hahaha....

Amelie was also given Jack and Jill hours this week, where the Jack and Jill Foundation pay for a career for 4 hours a week to help with care for Amelie. This may not sound like a lot, but really it is huge and will give Amelie some great play time with her carer. So a big two weeks all in all, lets hope that we have some photo's of Kiki walking this week and pray for her continued progress...

http://www.jackandjill.ie/

OCTOBER A month of AWARENESS

October is Rett Syndrome and Baby loss awareness month here in Ireland. As most of you know I have lost my only son Liam to Stilllbirth and would really like to bring light to the issue that it can happen to anyone, so always be vigilant during pregnancy and remember those who have suffered this great loss and no longer have their children with them. (See A Little Lifetime) Also That my daughter HAS Rett Syndrome but she isn't defined by it. Yes she may not be able to talk full sentences (hardly any words), her hands are not always of use to her, and she may not be able to walk YET! But she is still cheeky, she is still chatty, she has a mean sense of humour and we haven't lost her to Rett Syndrome and someday she will tell you "I told you so"! See http://www.rettsyndrome.ie and www.RSRT.org A Reversal is near..........

To Pee or Not to Pee? That is the question.

Amelie has lost a few words, we noticed this week, but we are hoping they are just on lay-away and will return again in the near future with any luck :) . So what has happened this week? Well we went to mother and toddler group last Wednesday where Amelie ate all around her (that's my girl :D) She has been really trying with her walking and only holding on with one hand, which is a massive milestone for her. On Saturday we had a family day where we just took a stroll, played some games and watched Dr.Who. Amelie loved watching us playing Hungry Hippos and even got to join in for a little she really enjoyed banging the heck of of it. :) So she was in Enable Ireland today for Physio and her PT thinks she has improved, her knees aren't as bowed and although they still lock, she doesn't do it quite so often. Her ankles are getting stronger and her muscle tone is strengthening. YEAHHHH. She is waiting to see an Ostio about Peidro Boots and maybe a walking frame. But for the moment she is doing good.......... Last night while we waited for the shower to heat I thought that I would try Amelie on the toilet :/ I know! I know! CRAZY.. But she was standing there with nothing on and the toilet was there so I sat her on to see her reaction. I told her to go wee wee if she wanted and then all of a sudden I could see little drops, SHE WAS PEEING! Arrr haha. So then this evening she came into the kitchen with her nappy full as a tick, so while I was changing her I decided to put her on the toilet again, and again she peed! Yeah!!!!! Then just before bed I was changing her nappy and I put her on the toilet to see if she would do it again, and she did another wee wee! Followed by a poo!!!! I nearly died, her daddy and me were sitting there amazed and she looked so proud, leaned over and grabbed the toilet roll!!! HAHA We are going to keep it up seeing as she doesn't hate it! But finally she has done something BEFORE her sisters ever did! Go Kiki xxxx

I'm Still Standing

Over the past week Amelie has been really trying to stand herself. On Saturday she stood for 4 seconds all by herself!!! Now that may not sound like a lot to normal parents however this is a HUGE milestone for her, and ever since she has been really trying to do it again, everytime she is standing she is pushing away from the thing she is holding onto to try and test the water! I really believe that she will be walking by Christmas! Oh talking about Christmas (yeah I know you love it! LOL) we have decided on her presents for this year, again this may sound like no big deal but buying for a child with Rett's is no easy task, there is a lot of depressive thoughts about how she should be able to do this and that, and how she doesn't need anything because she can't play with anything etc, however we have decided and thankfully it seems like it maybe a nice time this year! ANYWAY, back to this week, we went to mother and toddler group where she demanded crackers and then fell asleep! Like ALWAYS haha. We then went to the Cootehill Fair Day, it was busy and cold, but Kiki really liked looking around although she wanted out, and started to try and take her straps off. We let her walk holding our hands, she is getting so strong holding one hand now, the wee mite. She isn't self harming as much and her routine is very good too, she is in great form. I know she is falling over when in sitting position, but only when tired, she is really happy, only 1 out of seven days maybe a bit off. I will take that! I have been chatting alot to other parents via FB and god does that help alot, the support is just great and especially when you get chatting to parents of girls Amelie's age it is good to know you are not alone (if you know what I mean). Well I hope that Kiki's good week keeps on into this week. Thanks to all those that voted on www.rsrt.org/vote. Votes close tomorrow 19th Sep. We didn't beat the dog but if we educated anyone on Rett's that's a result. See you next week.

Birthday Girl

So I have decided to keep this a weekly thing unless something dramatic happens. So what happened over the past week with little Miss Amelie Kiki? Well the last week has been good with her, she has been verbal and has really begun taken an interest in her toys. When I hold her right hand she has begun taking steps without the other hand needing guidance and her steps are really lovely, little steps close together not a wide gait like they used to be. For her birthday we bought her some Peppa Pig night clothes, some little cardboard books and we also got her a Peppa Pig toddler bed, bedding and curtains, which she loves. She has been doing great in the bed, hardly any accidents but to honest I think her head is made out of concrete anyway!!! hahaha!!!! On Saturday we had a little party for her with just family there but she did find it a bit too much, so was very quiet, and it was sad that for her 2nd Birthday she didn't receive any toys (she just has what she needs, no need to waste money on things she won't use). But she was happy and enjoyed some alone time in the afternoon up in her new bedroom. She had a lovely cake bought by her Auntie J, but Auntie G couldn't be there, but she did have lots of company and enjoyed food time (as per usual) haha. Today she is over to Enable Ireland for a session but to be honest she seems so determined to do things herself we barely have to do it all with her. So I have put up a load of pictures of her from this last week because she looks so cute in all of them, hope you enjoy.... PS could you please click on the link and vote for the RSRT to win $250,000 for research www.rsrt.org/vote thanks again

The Camel

Whoops I never did get back to update.... Well we went to see Dr.Nick yesterday and he said he was happy enough with her. Her self-harming is a bit of a concern but sure we can't have it all and her skills are good at the moment. He thought she was good at interacting with others and her weight, height and head size are all good. He will see her back in 6 months to observe her, we can go back at any time if we are concerned about breathing, seizures, etc. So feeling a little happy today.... Well I have just pulled her out of the coal box where she just covered her lovely clothes in coal dust arrr, monkey! Thanks to Scarlett Amelie is now spitting like a camel! Urrr And everyone is a target! She seems alot better in herself this morning, long may it last, think I  may take her out for a walk as long as she doesn't spit at every stranger who goes by! LOL

The Headbanger!

This weekend saw a Charity Drive by Crosskeys Pony Club in aid of Rett Syndrome Ireland and one other charity. We went along as really it was in aid of Amelie as the girl organizing it is a work mate of Stephen, who had thought of Amelie when the group were looking to nominate charities. Unfortunately Amelie woke up on Sunday in really bad form, I hate when she is like this as nothing calms her at all. She is upstairs at the moment because she is tired but because she's in such a bad mood that she is hitting her head of the cot! Grrrr...... It is such a turn around from the past two weeks where she has been a delight kissing us, smiling, singing. It is so typical as we are heading in to see Dr.Nick today, he will only see her NOT co-operating and NOT communicating where she has been doing this! Somehow she has picked up the habit of spitting now and it is getting worse, crazy that she can't get walking but she can gain bad habits???? Anyway just a short post for the time being, I will update it later after we see Dr.Nick see what he has to say.... Till then xx

Back to School

The girls this morning 

Well it's back to school in the morning for the girls and Stephen, that means Amelie will have some much needed quiet time. :)  She is still under the weather, snotters and sneezes all the way, so don't know if I will push her on her therapies in the PM. I have been very teary lately with all sorts of mad images going through my head, but then I pull myself together and tell myself that Retts will be Reversed and Amelie does have a future. She has restarted putting words together again, things like "What's that?" and "What is it?". She had lost this and suddenly it came back? She loves photo's and we have a wall full of them in the hall, there is one particular one of Grace that she goes to all of the time, so today she took it off the wall and was saying "Grace, what is that?" I followed her out and caught her trying to put it back up on the wall??? How great is that? Uhh I just want her to continue as she is but how I want to see her walk??? You have no idea... Well maybe some of you do. We are all booked in for the Retts family weekend in October, I am looking forward to getting some new information and meeting some more girls and the families. But until then it is the calm before the storm, oh and crappy homework!

Lets make History

Poor Amelie got a cold today. She woke from her nap sniffling and sneezing with a runny nose. We can't help but panic these days when she gets these things because we have heard so many stories of Rett girls dying of pneumonia, bloody Retts I HATE YOU!!! But she sat most of the afternoon in her pushchair, half asleep and smiling. She is such a great little bean. Her big sisters were getting ready to go to a birthday party and it dawned on me that we would never get her ready for a party like this (if we don't get a cure). will she have friends, what will she feel like watching her sisters living a completely different, free, independent life. Made me feel a little down :( however she did start responding to music again. She started saying "dance" and started swaying, something she had lost some 9 months ago. Amazing stuff, it was fantastic I know that she seems to have lost "computer" but it may just be on lay away. I love her. I seen another blog today where a little girl said Mummy and Daddy today, words she hadn't said, all this gives me hope. Every day we are hopeful that a cure will be found, Neil Armstrong died today, he made history (conspiracy or not) lets hope some day we see Retts making history for all the right reasons!

Nom, Nom, Nom :)

There has been a study circling the Rett Facebook pages about the benefits of fish oils. Thanks to one of the other parents on the FB pages we decided to put Amelie on Vitabiotics Ultra Omega-3 Fish oils 3 weeks ago, now I don't know whether it is due to the FO or just a coincidence but she seems to be doing really well and if she is going   through regression then hopefully this will help rescue her skills. All we hope for is that she keeps her spark, the magic that makes her Amelie Kiki, our rainbow baby. She is so fast at moving about and she is just so  loco!!! She has a wicked sense of humour and great timing. She has a few words and I really don't want her to lose them, it is so lovely hearing her husky little voice even if it means her SCREAMING Mummy from the top of the stairs. She shouted "Pamela" down on Tuesday night, Stephen and I nearly fell... Little monkey. She has been so much more aware of her sisters this summer too, but having said that how could she ignore the whirlwinds that are Scarlett and Grace??? She crawled over to Scarlett and hugged her yesterday, and fell to sleep in Stephens hands at lunch yesterday, Nom, nom, nom.... She is ediable. So its off to get the rest of the back to school sorted today and to collect Amelie's new kicker boots.

What a difference a day makes.

Well now where do I start? Your prayers must have been answered because yesterday was so different than the day before. Yes she got me up at 5 am yesterday and had a little hissy fit at Eddie Rockets in Dublin but that was it. We went to visit some friends in the morning, and I was dreading her behaviour to be honest. They have two young kids a 2.5 year old and a 3 week old, I was so afraid that with her moods being so bad lately that she would be off hitting them all, but no she was great. Yes she had to be taken for a walk to calm her down but that was because she was tired, but other than that she was great. We then made our way to Dublin to the chairty football match in Croke Park in aid of Rett Syndrome Ireland, we were early so decided to go to lunch in Eddie Rockets (like my figure need that!!) and she was ok once she got her food but she was shouting and screaming watching everyone elses food coming out first! Whoops, someone has no patients?? We then made our way to the hotel and stadium, she was great.. She talked to everyone, she looked at the other girls and I believe she was taking it all in. Jesus it was something meeting Rett girls of all ages and of all abilities. It was a little frightening but I just needed to adjust as one of the other parents had said to me. Hard to imagine Amelie being like that but I suppose all the parents there thought that at some stage. They were all amazing, confident people who seemed to be well adjusted to their new reality, so I suppose that we will just adjust too. It is a little difficult at the moment as Amelie is just so active, and has such a huge spark, she is just so little, acting like a little baby I suppose all we can hope for is the miracle of a cure.

Regression?

Oh Holy mother of god!!!! How hard is this job? The last two days have just been the worst. Amelie has woken up at around 5am this last few days and has done nothing but cry and scream and self harm. That has been our whole days trying to calm her down, without any effect. Stephen is at the end of his tether and I am not too far behind. Grace has been staying at Auntie J's house for the last two days, so that just left Scarlett who is easier to handle, she is a little more mature so knows when to stop pushing me. We all went our for Sunday dinner yesterday as it was Stephen grandmothers 1st anniversary, so we went to our local hotel for what should have been a nice relaxing dinner???? Oh Jesus, it was anything but... Amelie started to kick off right away. Nothing we could do would calm her, she wouldn't eat her dinner, she wouldn't let us eat our dinner, and worst of all we didn't know what to do or what was wrong with her. Everyone was looking at us and I was getting so flustered, Stephen took her home while Scarlett finished up, suddenly the tears started flowing from MY eyes! I was so annoyed at myself, but it gets so overwhelming sometimes, especially when your in a room full of kids her age and they are eating their dinner and communicating to their parents what is wrong, just so depressing sometimes.... So to calm me down, Scarlett and myself went for a drive, looking at all the houses that we would like to live in. Oh I didn't mention how desperate we are to move have I? We are in desperate need of more room and we live in a tiny 3 bedroom council house, we want to live in the countryside and prices of houses are so cheap... But the banks here???? Grrrr I won't go there..... Anyway Kiki has us up early again, we are supposed to be going to Dublin to a Gaelic football match in aid of Retts awareness, but if Amelie doesn't nap that will not be happening! Just pray for us that today is a different day for Amelie, but some how I don't think so.

So.....   It's 6am!!! I think I will kill her, well not really but she could get a sore head if she keeps hitting the wall...Grrr Sleep deprivation doesn't sit well with me, all the babies slept from day dot so when I don't get at least 6 hrs I  physically sick. Maybe it is from all the medication that I take for the Arthritis, knows? But all I know is I feel like puking. Stephen is currently down stairs with missy moo at the moment and it's  not because he is some wonderful man who wants to give me a rest, noooo it's because he fell  asleep playing the PlayStation! So  anyway she hated the  pool. Cried the whole time, then when were parked some cow walked  over to stephen and asked if we were moving out of the disabled spot because someone with a disability was waiting to use it. She didn't look for a disabled badge (which was displayed on the front) she just saw a pushchair and assumed  that we were illegally parked... Ignorant Bitch! Thats all I will say to that!

Heterozygous C.916C>T Mutation

Hey all, our day was a bit like the weather here in Cootehill! Amelie started out bright and sunny but as the day wore on, just like the skys above us she began to grow more and more dark looking. She did some lovely vocalization but then began to self harm again. I hate when she does that!!! Grrr....... Anyway she then got sick all over herself after eating our friends flowers, someone needs to tell her she isn't a bee! :) When we got home Stephen gave her a shower (we have no bath) and she calmed a little. Above is a picture of her after her bath... Nom nom nom! If I do say so myself. She went to bed after eating a plate of sweet and sour chicken and rice (we notice she has been mouthing a little more during meal times lately). She went to sleep no problems after a few bangs of her head. So I decided to fill in some of the forms that we have been given and I found the note that Dr.Nick gave us with her mutation on it. It is called "Heterozygous C.916C>T Mutation"... and I HATE it! I hate that this damned thing has taken my little girls voice and independence. I hate that it has taken her normality. I hate the fact that there is a cure close by but uncertain if it would even benefit our girl. But the thing that I hate most is the fact that I have the thought of her being buried in next to Liam sitting at the back of my mind nearly every hour of every day. Oh well, another day another doller..... Or should I say Euro! I have collected all the money for the Reverse Rett bands that I got sent over from England, so Mr JW should be getting a little bit for his Cure for Carys. Some lovely people donated some more cash to Cure Kiki, which you can all do by clicking on the link on the left hand side. We have a few Rett fundraiser things to go to next week, we are heading to Croke Park on Monday to watch a Gaelic match in aid of Rett Syndrome Ireland and next Friday we are heading to a benefit for the Holly Murphy Fund in Fermanagh, its all go!!! Must go now as we have the swimming pool to prepare for for the morning... Fun times ;)

Success!!!

Well Stephen had a successful day yesterday with Amelie. Like I said previously she hasn't been in great form this past week (after 3 weeks of being in a fab mood), so I decided to take the two big girls up to my sisters house to give her a break from the chaos. So she spent the day between napping and working with daddy. This evening Stephen was feeding her and when she finished she looked into her bowl and said as clear as day "All Gone"!!!! She then leaned over and started to kiss and hug him, he said he was in tears. I am so happy and I truly believe that all these words we say to her are going in and the nasty git that is Retts is just just stopping it from coming back out. How frustrating? No wonder the little mite is banging her head off radiators and stairs in frustration...

6 Weeks Later

Here we are 6 weeks later, Amelie is sitting out in her high chair in the kitchen laughing with her sisters while they feed her strawberries. No doubt in about 10 minutes she will be head butting them and crying. She has had a really hard week, we thought that maybe she had the throat infection that was circling the house but we brought her to the GP yesterday and nothing there. She must be in regression at the moment, we just can't tell. She is crying, sleeping, self-harming so much more. She is great at sleeping but she is so irritable and she really doesn't know what to do with herself which leaves us not knowing what to do!!! Arrr very frustrating. One the plus side she is taking her Vitabiotics Fish Oils and the improvement in her movements like getting down off the sofa/bed is fantastic, she said guitar the other day for the first time, she says mum when she is annoyed and she says Darragh when she see's the little boy next door so there is some positives. Amelie is going to spend the day at home with daddy today, she really loves going for drives and walks etc but she loves being at home, hope he makes her work hard today.

Introducing Miss Amelie

Miss Amelie Kiki

Amelie Kiki was born on the 9th September 2010 in Holles St Maternity Hospital Dublin under the care of the Fetal Assessment Unit. She came into the world by emergency c-section at 35 weeks gestation after a woeful pregnancy that involved Rhesus disease and intrauterine transfusions. You see Amelie would have been our fourth baby, her older sisters Scarlett born in 2004 and Grace born in 2006 were delivered after very uneventful pregnancies. However in 2009 a little boy called Liam was supposed to be joining us but he died at 34 weeks due to an unexplained stillbirth and while giving birth to him our bloods mixed and the anti-d didn't work causing me to contract antibodies. So Amelie was our rainbow baby, the light of our lives, a new reason to smile. She was progressing nicely until about 8 months when we noticed that she wasn't bearing any weight on her legs, she wasn't making much effort to play with toys but she was really good with her words and was forming full sentences like "Spooky get down" and mimicking songs. But around October 2011 we noticed she was self harming more, to the point where she caused impitigo on her hand. Her daddy Stephen is a Special Needs Assistant in a Special school, and he had become increasingly concerned that what she was doing wasn't normal, her had even mentioned Retts back then but we all dismissed it. However by Christmas we knew something was wrong, she had stopped waving and saying goodbye, she lacked interest in any of her toys, pets, sisters and us. I went to her developmental doctor with my concerns in February when she was making no attempt at pulling to stand. She too shared our concerns but thought it may be Autism. She contacted Dr. Nick our pediatrician who saw us over the Easter break rather than put us on the wait list, he ordered bloods and an MRI of the brain to be done, he told us that he had concerns with her head growth and mentioned Retts. We were dumbfounded, he told us he wouldn't contact us before September if everything was ok but we got the phone call on the 3rd July 2012 that he wanted to see us. So on the 4th July 2012 we walked into Cavan General Hospital and again we received life changing news, our baby had Retts Syndrome and there was nothing that we could do to help her....................