A week of firsts

This week has been a week of several firsts, some for G, some for me. Some causing immense happiness, others causing misery for little moo...

Gracie's first cold

On Wednesday G just would not settle. Day times are usually her happiest, but not this time. She was grizzly, hungry and nothing would settle her. One car ride later, and we thought we'd cracked it, it was 9pm and she had dozed off. Then I heard a sound on the baby monitor that made me want to investigate. After taking a leisurely stroll up to the bedroom, I found G choking in her Moses basket. After several slaps on the back, and several more choking episodes, I found the culprit. Snot, and plenty of it. G had developed her first cold.
This night become another first....the first time we had ever ventured out in the car beyond the evening, in to the realms of the night. It was midnight, and we were heading for the M1! It was also the first night that we really did have no sleep...the odd wink here and there, but that was all. How Tim made it though work the next day I don't know.
G is starting to get over her cold, and I have every baby cold relieving item that I could lay my hands on. Snuffle babe vapour rub has to be my favourite (baby Vicks for those of you who are wondering). The smell takes me back to my childhood :)
I might add that choking is not uncommon for her, it's more of a regular occurrence, but we know how to deal with it. It doesn't make it any nicer to see or deal with, but it seems to be yet another symptom of her reflux.

Sleeping though the night

Last night, for the first time in her little 12 week existence, G slept through the night! 9:15pm until 6am. For any parent reading this, you will no doubt be remembering your first time too, probably because it was the first decent nights sleep you'd had in months. I must admit I did wake briefly in the night, slightly bemused at the fact that I hadn't heard her little screams for milk, but after hearing her breathing peacefully I fell back to sleep.
I don't expect that this will happen every night, but I know that she can do it. And to be quite honest, the amazing 7 hours of sleep that I had is enough to get me through the next 12 weeks..... Well, the weekend maybe!

First bath by mummy (without daddy's help!)

Caution, Slippery when wet.... A warning that should come with all babies! Up until this week I'd always wait until Tim was around to bath G. However this week G decided to treat me to several explosions, most of which required immediate bathing. So I thought 'man up Rach, it can't be that hard'. It wasn't. Ok she wriggled and squirmed, squealed with delight, and screamed when she'd had enough, but it was ok. The fact that she smelled like a Johnsons baby factory afterwards made it all the more worth it.

Back in the car again? 

I had mentioned venturing out in the car, and you may be thinking 'but what about the mamaroo?!' After our initial delight at this fantastic contraption working, we found that Gracie would only settle in the mamaroo for a short time. Once in the full throws of her screaming fit, it no longer had effect.
Put her in before she starts? We've tried, but sooner or later the screaming fit does come. It does however buy us enough time to cook, and usually eat our dinner. For that I am thankful!
So many people have been kind enough to tell us ways that have helped to soothe and settle their little ones, and we've been been more than happy, enthusiastic even, to try every suggestion. But they just don't seem to cut it. A real life car ride is the only thing that works for her. Either we need to get her meds and formula altered soon, or she needs to grow out of these reflux and milk issues. Poor little monkey must be fed up of the pain!

In support of Gracie and the Turner Syndrome Society

This time next week my little brother will be taking part in his first ever triathlon in aid of Turner Syndrome Support Society. He is very close to reaching his £500 goal, and we are all really proud of him and how he wants to support his little niece. The race is pretty local to us, so Gracie is looking forward to cheering him on!

What does this week have in store?

Gracie has her second lot of jabs, another hospital appointment which apparently is for an echo, and hopefully a conversation (or even an appointment) with the paediatrician to discuss her current treatments for her reflux and milk intolerance. The current provision is having no effect whatsoever. I have also had a letter through to make our first appointment with the dietician regarding the milk issues. Aside from the medical stuff, we are going to enjoy bank holiday with Winston and daddy (sunshine please!), and have more coffee and cake with friends. It's a good job I've started going to the gym, at this rate I'll be growing a cake baby!!

It's a good job that Gracie, daddy and Winston are snoozing their heads off beside me right now, I've enjoyed a lovely brew, and keeping you guys updated :)

Heart scan results

11 weeks old and changing every day!

Heart scan

Finally the day of the scan had arrived. I was a tad nervous, but knowing how well the scans had gone during pregnancy, I had faith that all would be ok.

We were very much looking forward to seeing Dr Archer again, and this time we didn't have to travel down to Oxford. One less petrol cost!! Upon arrival we noticed that it said 'Dr Archarya's clinic on our letter, and we started to wonder whether she'd be having her heart scan at all. Thankfully, a few moments later we saw the familiar face of Dr Archer, and realised it must have been a typo!  Despite the cold gel and having an unfamiliar face looming over her, G was extremely well behaved during her scan. Her aorta had not narrowed (a potential complication in Turner syndrome), and all else was well. 

She does have a small leakage of blood between two chambers, but this apparently can be quite normal in newborns.  Given that he doesn't want to see her again until she is 1, we weren't about to start worrying.

No more driving....

She's stopped screaming in the evenings? Not exactly, but we are hoping to spend less time in the car due to a fantastic contraption that has been loaned to us. We trialled the mamaroo last night,and so far so good! Basically it is a seat that is supposed to simulate a car ride (along with a few other motions such as a kangaroo!). It kept G settled for around an hour, and allowed her to become sleepy enough to be put in her Moses basket afterwards with NO screaming....I know, hard to believe.

Her reflux still plays her up in the evening-we can often see and hear her chomping on the acid-but for some reason a car ride is still the only thing that will settle her.

Anyhow, we hope the novelty of this contraption does not wear off as we're quite excited at the prospect of enjoying evenings at home again :) 

A day with nanny and grandad

We were lucky enough to be invited to our friends wedding in Bath this weekend. Whilst babies were invited, we felt that it would be better to leave G at home with family. 

It was a beautiful day, and the happy couple looked amazing, but towards the end of the day I had started to get anxious and felt the need to come home. After enjoying a delicious meal, we decided to make the two and a half hour journey back.

Apparently G had been as good as gold and had several trips out (including to Cafe Nero), though come 5pm the screaming started! Mum and dad had hoped that a long walk with the dog would settle her enough-we know it doesn't-but low and behold, the screaming started as soon as the walk ended. We returned home around 9:30pm to find that they had resorted to driving up the A14 to settle her. What a little monkey!!

Normal baby things

G is developing well, and on a recent visit, the health visitor commented on how well she is doing. She is holding her head up (with the occasional flop!), smiling away, cooing, and very much enjoying the fact that she has discovered her fists. 

We like to keep busy during the days whilst Tim is at work, so attend regular baby groups, and the occasional coffee and cake session with my 'mummy' friends. 

It is really easy to forget that G has Turner Syndrome. She is doing so well. Apart from the reflux and cows milk intolerance (both of which we hope that she will grow out of), she appears to have no further complications at the moment.

Growth

We do need to start thinking about the issue of growth hormones over the next 6 months or so. Our geneticist informed us that G can start these as early as 18 months, and it is something that we are extremely interested in. We want to give her every possibly chance of growing as tall as possible (which in the case of somebody with TS, is around 5ft max with the help of hormones). That aside, we have very little else to think about over the coming year, except possibly teething and crawling! 

Here is a picture of how well the mamaroo soothed Gracie last night...

Things they never told me about being a mum......

I've learnt a lot these past 9 weeks, and there is still a wealth of things that I need to learn. Here is a snapshot of the things I wish I'd been prepared for....

Babies cry...

.....for hours on end, and there is nothing you can do to soothe them. Granted, not all babies do, but mine does. Her reflux and cows milk intolerance plays havoc with her poor little body, and the days of 4/5 hours screaming constantly, are still not behind us. The new milk and medicines haven't quite kicked in yet, and we are unsure of if they will, or whether she'll need to have them changed.

Increased petrol costs

The only thing that gives us a break from Gs  screaming is the car. We are spending hours on end, most nights, driving around just to settle her and catch a breather ourselves. Last night we found ourself going out twice, and ending up heading for the motorway. We have had more drive thru dinners than we can count. Not such a bad thing, said my sister? Yes, I just want a normal dinner at my dinning table. I even want vegetables! And those of you who know Tim would be shocked that he is now sick of KFC :)

Battling with GPs

Some (but not all) GPs think that I'm an over anxious first time mother. I have had endless phone calls and visits to the surgery reception, trying to get the formula and medicine that the Paediatrican had prescribed for my baby. The current battle is to get her stuff on a repeat prescription so that we don't risk running out, and that I'm not constantly speaking to different Gps and receptionists pleading for another batch of her meds and formula.
The one GP who has been fab, probably because she used to be a paediatrician and also knows about Turner syndrome, is about to start maternity leave. Rubbish or what?!

One solution often causes another problem

The new hypoallergenic formula is causing G to be sick left right and centre. It's so thin and watery that its like heaven to her reflux-one small burp, hiccup, or even a tiny movement, and G, me and often the floor are covered in sick. I'm now on a mission to get hold of a natural milk thickener to try and combat this problem. The GP told me to give her gaviscon. It constipated her, so no. He told me to experiment with quantities. Seriously, everything feels like an experiment right now, and I'm crap at science!

Just because one problem is diagnosed, doesn't mean that other unrelated problems won't occur

We were as prepared as possible for the potential difficulties relating to Turner syndrome. What we weren't prepared for, was difficulties that weren't! Saying that, general digestive problems are more common in TS girls, so I guess I'm wrong to say they are totally unrelated. Still, reflux and a cows milk intolerance weren't on the cards, and little did we know that they could cause sooo much pain for our little one.

You can feel so low, yet love your little one so much

This past week has been the hardest yet. Introducing the new milk was a challenge in itself. She hated the stuff, and I've tasted it and don't blame her! I also had a battle with the pharmacist to get her ranitidine medicine for her reflux as apparently is ridiculously expensive. He even wrapped it in bubble wrap incase I dropped it. I battled to get it, I wasn't about to smash it on the floor....
Some days I'd love to drop her off to anyone who'd have her, and go out and pretend I didn't have a care in the world. I could cry all day and night. Post natal depression? No, I just have an extremely difficult baby (not of her own fault, I know) and everything at the moment is a daily battle. We will have a happy baby eventually, and I will not dread the days, or more so the evenings, and Tim won't need to bundle us all in the car to Save our sanity. Tim as always is still amazing, but some days he sees the battle we have, and it even gets to him.

Don't get me wrong, our little one is our miracle, and we will always love her to the moon and back. Her gorgeous smiles erase any trace of the difficulties we face. Sometimes it's just hard. This morning I was vomited on, followed by a massive gorgeous grin. She's a monkey, but she's our beautiful little monkey. 

Appointments, weight gain and smiles!

More appointments in a bid for a happier baby....

The past two weeks have been pretty hectic! In a bid to combat Gs growing discomfort, we have had 3 doctors appointments, 2 health visitor appointments, an urgent appointment with the 

paediatrician, and 2 appointments with a craniosacral therapist. Thankfully, all have been extremely helpful. After being diagnosed with reflux, G started on infant gaviscon two weeks ago. However, we've seen very little impact. The screaming, the discomfort and constant squirming, the coughing, wheezing, vomit, choking, refusal of feeds, groaning and general pain, is gradually getting worse. Needless to say, our anxiety, feelings of helplessness and lack of sleep has also been massively affected. Thankfully, two very lovely GPs listened to our concerns, and didn't dismiss them (like one GP did). They managed to get our appointment with Gs paediatrician-which should have been in August-brought forward to this week.

The last time we saw the paediatrician, Dr R, was when G was in special care. It was nice to see in her in happier circumstances, well more so than last time anyway! She too was very sympathetic and caring, and after nearly an hour of discussion and checks, she agreed that G was suffering with reflux and possibly also a cows milk protein intolerance. A plan of action has been put in place, and involves medicines and special formula. These will be introduced one at a time so that we can observe the effects, but hopefully we are on the right track. 

Smiles and stretches :)

Aside from Gs regular discomfort, we have been seeing some glimpses of a happy baby. Sunday saw our first genuine smiles (not wind associated!), and since her treatment with the chiropractor she seems to be less tense, and is enjoying kicking around and stretching her arms and legs. Prior to our visits with the chiropractor/craniosacral therapist, Gs arms and legs were pretty much permanently tensed, and impossible to move. Funny how something as simple as stretching can be so joyous to watch! Lets just hope the reflux meds and the special formula will address the rest of Gs issues. We're staying positive, after all she's overcome far worse things!

Weight gain......though still a tiddler!

At nearly 8 weeks old, you could easily mistake our little cherub for a newborn. G was weighed again this week, and after myself and Tim thinking that she would definitely be in the 9-10lb region, we were surprised at her coming in at a modest 8lb 12. Thankfully she is still gaining enough weight, and whilst she's only sitting between the 2nd and 9th percentile, she is consistent at least. Double figures next time maybe?

So the next few weeks are a game of trial and error....hopefully successful trials. Maybe I'll be able to report news of a much more comfortable baby in my next post. 

Common baby ailments, and a heart scan appointment!

G turns 6 weeks old on Saturday-how your life can change in just 6 short weeks. We can barely remember life before our gorgeous little G.

No more tiny baby clothes

This is a milestone for us! For the first 5 weeks of her life, G was such a little dot that we had to replace her whole wardrobe with tiny baby clothes. However,  last Friday she weighed in at a hefty 7lb and 8oz, and to us she now seems huge - well bigger at least. She has a long way to go to fit in to some of her beautiful outfits, especially the monsoon coat that my mum brought, aged 18 months no less. So in G terms, 2 years at least! Anyhow, so long as she continues to put on weight, we aren't bothered how little she is.

Reflux, colic and an umbilical granuloma

Whilst G is displaying very few traits of Turner Syndrome at the the moment, she is displaying many traits of newborn-ness! Colic, and reflux to be precise. For the mums and dads out there who have experienced either of these, I imagine you are currently thanking your lucky stars that your little one (or older one) has grown out of it. The hardest part for us is the constant screaming which lasts at least 3-4 hours EVERY night, and for which nothing will sooth. We're trying everything...special bottles, special formula, infacol, gripe water, white noise apps, infant gaviscon. 

I guess we'll have to wait until she grows out of it. For now, family are a godsend....Tim has taken G out for the evening (hence why I have time to update my blog and wash my hair-seriously), and tomorrow night nanny is babysitting so that we can go out for (a quiet) dinner.

One friend did ask if we reminded ourselves of the fact that she is our little miracle, our little 2% er, when she is screaming the house down. Sometimes! 

G has also developed a growth on her belly button. Apparently her umbiblical chord hasn't healed properly, and it hasn't closed over, which has led to a small growth popping out. It's pretty gross, and sticks out really far when she coughs, strains and cries. Salt treatment is the way forward apparently, with silver nitrate being a last resort. Hope she ends of with a normal belly button afterwards!

Genetic counselling and a heart scan appointment

FINALLY we have our heart appointment for G. It wasn't easy though. Given that the heart specialist requested that he see her as soon as possible after birth, I was a little surprised when they booked us an appointment for July! After a lot of chasing up, we have managed to bring this forward to May 16th, which can't come soon enough.

Tomorrow we are meeting a genetics counseller who will inform us about Turner Syndrome. A little late you say? Yes, we could have done with this shortly after the diagnosis back in October! But hey, we are not about to turn down any extra help/information. 

New friends

Over the past few weeks I have met up with some lovely ladies from my antenatal class, along with their gorgeous babies. It's great to compare notes, discuss experiences, and generally support each other. I have also met some other new mums along the way, as well as being in touch with old friends who are new mums. Friends are invaluable, and I very much look forward to regular mummy meet ups.

Oh, and if you hadn't guessed, I've decided to continue with the blog. There will be less frequent entries due to the obvious-a crazy busy life with a little one- but I will aim to write about our experiences with a newborn,  as well as continuing to write about life with Turner Syndrome.

Hope you enjoy the picture. They're not quite best friends yet, but one day maybe :)

What's next for our blog?

Yet again time has flown, and its been nearly two weeks since I last posted!

To continue the blog?

I was thinking the other day about whether our time on this blog has come to an end. It's primary functions were to raise awareness of a relatively unheard of syndrome, and share the story of a tough pregnancy that was full of unknowns. Now that G is here with us safe and sound, I'm unsure about where to take our story. Whilst our relationship with Turner Syndrome is by no means over-it will be a life long one-the hardest part is now over.
Sure we''ll have plenty of baby stories to share, and the odd appointment with the paediatrician, but so long as G continues to be healthy, we will have very little to share with regards to her syndrome.

Still no heart appointment....

We are still awaiting the blood test results to double check Gs platelet and haemoglobin levels, and more importantly we are still waiting on our appointment with Dr Archer, the heart specialist from Oxford. Whilst We are happy that her heart scans were clear during pregnancy, we (or I-the worrier) will be much more at ease once she has had her infant heart scan, as up until now all of the scans were during pregnancy. Let's hope that magic appointment letter arrives soon.

Baby joys

I'm finally getting used to being a mummy :) I'm worrying less about the weird farmyard noises that she makes, panicking less about what to do when she cries, and just generally enjoying being in her lovely little presence! Tim has taken to fatherhood like a duck to water, you'd never have believed that he hadn't held a baby before G. He's still a little averse to the 4am night feeds though, and can sleep through her noisy nays, baaas, squarks and cries (is that just a man thing?!).
Family have fallen in love with G,and she is permanently fussed over by grandparents, uncles, aunts and surrogate aunts.

Reflecting

I had an antenatal reunion this week, and we had to tell our stories. As I had enough to talk about with the emergency c section and Gs time in special care, I didn't get round to mentioning the hardest time of all-the pregnancy, and coming to terms with her Turner Syndrome.
It's funny to think that we spent a whole 6 months not knowing what was in store for us, and whether the pregnancy would even come to term. That 6 months seems like an age ago. I can't remember the amount of times that I cried, and worried over whether I'd still be pregnant by the end of the day. I say funny, only in that all I ever think about now is whether I'm going to be vomited on, how long G will sleep for, and whether she needs her nappy changing! Joking aside, those hard times have long since been forgotten.
So different now. So happy. So lucky :)

Here is an Easter picture of G for you all...

Home and settled!

My last post was written two weeks ago (where has the time gone?!), and I finished off saying that I had hoped gracie would be home in time for Mother's Day....

Home in time for Mother's Day?

Being discharged from hospital on the Wednesday, and taking that first journey home without G, seemed very bizarre. I had imagined her first trip in the car seat, and Tim driving at 50mph instead of his usual fast pace, but that day wasn't going to be just yet.

That night, I slept well, but as soon as we woke on the Thursday morning, I was anxious to get straight back to the hospital.

Upon returning, we found that she had fed well throughout the night, her bloods were improving, and now she was allowed to come off the drip. It was so nice to see her not hooked up to machines, though she still had the nasty canulas in both hands. The doctors said that she was doing well, but needed a brain scan, which alarmed me. They also said that if all was well, G could potentially go home the next day (Friday), and that we should stay overnight with her in special care in one of the private rooms. So that evening, I returned to hospital with my overnight bag to spend my first night in almost a week, with her. We agreed that Tim would stay at home with the dog. It wasn't the most successful night, and G was awake for nearly 5 hours, leaving me distressed and helpless. At 4am one of the nurses offered to look after G for 2 hours to give me some sleep. Those 2 hours gave me just enough energy to see the next day through.

Tim returned to the hospital in time for the doctors rounds the next morning, and to our amazement, they felt the brain scan was no longer necessary, and they were happy to discharge her after lunch. Putting her in the car seat, and securing her in to the car, felt truly surreal. We had spent so much time at the hospital, both during and after the pregnancy, but finally we were on our way home, for good.

She would be home in time for Mother's Day....

Features of Turner Syndrome at birth

We have had many conversations with friends and family about whether G is displaying any of the potenial symptoms of Turner Syndrome.

Just to remind you, symptoms that can affect appearance and can be seen from birth, include:

• a particularly short, wide neck (webbed neck)
• swelling of the hands and/or feet
• a broad chest and widely spaced nipples
• arms that turn out slightly at the elbows
• a low hairline
• small, spoon-shaped nails
• a short fourth finger or

• eyes that slant downwards
• droopy eyelids

• low-set ears
• low birth weight

At the moment, G only really displays two of these characteristics-her feet were swollen at birth, and still have some swelling, and she had a lower than average birth weight.

Gracie will develop other issues as she grows up, two of which are certain-a short stature, and ovaries that do not function. There are numerous lists of other potential problems, which can affect organs, development, learning etc, however she may not face any of these. So for now we will continue to be thankful that she is as healthy and happy as she can be.

Amazing support network

We have been truly blessed with support from family, friends (new and old), and even people that we barely know. People have cooked for us, sent us lovely messages and cards, continually been asking after Gracie's progress, and praying for her health. She is already well loved, and thoroughly spoilt!

What's next in terms of medical care?

We are waiting on an appointment for a heart scan, which should take place in the next 4 or 5 weeks, and we have just been sent an appointment to see our paediatrician in June. Those aside, we will carry on like any other family with a newborn baby, and take each day as it comes. For now though, we can enjoy the fact that we don't have an appointment every week :)

What a lovely little miracle she is. She is the 1-2% that did make it, though to us she's our little one in a million!