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!

Baby G is here!!

As far as anxiety, unpredictability and shear fear are concerned, this last 5 days has been full to bursting with all 3.... As well as feelings of overwhelming love :)
What has happened to us since Saturday, would need at least 2 or 3 posts, so I'll give you it on a nutshell for now (though it may turn into an essay!).

Early labour?
Friday evening and Saturday day I felt 'weird', I'd guessed I was having mild contractions, but was concerned at the lack of baby chappos movements.
Once Tim returned from hockey, we called the labour ward, and were asked to come in for checks but told we'd probably be sent home.
Within 20 minutes of arriving, we were told baby wasn't coping with my mild contractions, she has also pooed in the womb -yummy- and I needed an emergency c section. NOW.
Suddenly, at least 8 people descended on my room helping to prepare me. Tim was whisked off, and in ten minutes I was on the operating table, with Tim by my side.

G was born several minutes later at 5:18pm, weighing 5lb 13. She needed extra help to get going but apparently she was out in the nick of time.

A problem?
The next 24-36 hours she was very unsettled and wouldn't feed much. She was also bright red (though at the time we didn't think much to this).
The paediatricians visited us Monday morning, and told us she needed some tests in special care. By late afternoon we were told she needed to be admitted to special care. High haemoglobin-very thick blood, and low platelets. We were distraught, and my post labour hormones went mad.
Later we visited and she had canulas in both hands, and was hooked up to drips and monitoring machines. She looked so tiny and helpless.

Tests and transfusions
Since Monday evening G has had a partial blood exchange (swapping some blood for fluid) and a transfusion of platelets. We're now waiting to see if these procedures did the trick, or if anything else is required.

Was it the Turner syndrome?
Gs condition with her blood can happen to any child. Little is known about whether it is linked to turner syndrome. It wasn't linked to the problems in labour or birth either. Just one of those things....again!

We're praying G will make a speedy recovery, and to have her home soon-by mothers day would be my preference! I'm off home today, and whilst I'm extremely pleased at the prospect, we are both gutted that our little one can't come with us today. She is being well looked after, and is in everyone's thoughts and prayers. Little fighter is still fighting :)

I just wanted to add how amazing everyone has been over the past few days, especially my husband. He has not only had to deal with this, keep the house and dog going, but also cope with an extremely emotional wife. He's so positive, and will be the bestest daddy!

A little impatient!

No signs yet....

I predicted that baby would arrive in the first week of my maternity leave (around 11th Feb), and weigh 5lb 5. Having read several stories of Turner Syndrome births, both the estimated weight and arrival (at around 36 weeks) seemed plausible. However, at 38 and a half weeks, and with baby weighing 5lb 6 over 2 weeks ago, it seems that she is determined to throw the rule book out of the window!

I've been in regular contact with the Turner Syndrome Society and I do know that some babies with TS make it to full term, but I'm just so impatient, I was adamant she'd arrive early! And as much as Tim says I'm the impatient one, I think that he secretly is too.

Anyway, the message from all is clear-at least she is getting some extra cooking time, and with every day she is hopefully building up her strength, health and weight.

Platelets-no news is good news?

I've had 2 blood tests since my last post, and haven't heard anything from the hospital, so we are assuming that no news is good news! I'm due to meet my midwife a week today, by which time I'll have had another blood test, and for piece of mind I'm going to see if she can access some of the results for me.

Beautiful gift

My 2 bridesmaids had me over for a cuppa and cake last week, and after checking that I wasn't having an 'emotional day', presented me with a beautiful nappy cake. It had been specially decorated in purple for Turner Syndrome. I was reluctant to take it apart as it looked stunning, but once I'd showed it to Tim, he was very eager to see what the cake contained. I have attempted to reconstruct it though, just to look pretty for a few more days.

Emotions in check....for now

I've had less of an emotional week, and was actually able to share our journey with some friends last night, without getting remotely upset. I definitely surprised myself, especially as I could even recite those dreaded statistics without them affecting me. For some reason though, I still have the door shut to the nursery, and I haven't been inside it for nearly a week. Maybe it's just last minute nerves affecting me.

Due date-10 days!

We are extremely excited, and I'm sticking to Tim like glue now (well except when he goes to work). I will post again after my midwife visit a week today.

Last consultant appointment!

37weeks + 4

Our final visit to one-of-many consultants

Yesterday saw our last visit to the consultant. I say 'the' consultant as it would be silly to assume that we'd get to see one of the 3 that we'd previously seen. This time the waiting room was packed, and we didn't expect to get seen anytime soon. I wasn't particularly nervous, but the issue of the platelets had been playing in my mind. 

We were called in 20 minutes later, and I had the basic checks done, but this time my blood pressure was high. We were told they'd check again in 15 minutes, and then were left to wait for the consultant. My face must have told a story, because Tim was quick to reassure me that my high blood pressure will have been due to the fact that I virtually sprinted to the consulting room when my name was called. As always, he was right (though I don't tell him that too often!), a further check confirmed that my BP was heading back to normal.

After nearly 40 minutes of further waiting, a consultant that we'd never encountered before, entered the room.   She skimmed through my novel/notes and discussed the recent Scans. She then informed us that my platelets had stabilised, MUSIC TO MY EARS! In fact, they had increased slightly, though still remained below the normal threshold of 150. She concluded that I would need a weekly blood test between now and birth, but as they hadn't dropped below 100, no immediate treatment was needed. Hurrah! I was so thankful that my prayers had been answered! We were then told that we could leave (after another blood test) and that I would not need to return until labour, or unless I received a call to say that my platelets had dropped again. 

For the last time, hopefully, we left the department, and walked straight past the 'appointments' desk. What a sense of relief....in the past 20 weeks we've had over 13  appointments at our local hospital (not to mention the Oxford apts and midwife apts), and now we are not due to return to the maternity department until baby Chappo chooses to make an appearance :) 

Just think how much the car parking company has had out of us!!

Nesting?

This week it has finally hit me that I'm on maternity leave! For the past 5 years, I've spent most of my Sundays beavering away on my laptop,preparing for the week ahead at school. This Sunday I had the urge to get my laptop out, but not the need...it felt a tad weird.

I've kept myself busy this week as my hormones have been raging, and for the last week or so I've been feeling extremely emotional and anxious. I've also had a real urge to clean and clear the house (much to Tim's delight). Not your average polishing, washing, or hoovering though, but more like skirting board wiping, patio door frame cleaning and cupboard emptying! Thankfully I got out of the house today to get my hair done, and when I returned home I didn't feel too great, so made myself spend the afternoon in bed chilling with the dog.

What next?

I guess it's just a waiting game.... A few friends are adamant that baby Chappo is on her way, but I'm not so sure. She's beating all the odds, and bucking every trend going, so maybe she won't be early after all?!