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....................