Hard choices

Sorry for the absence, Bean and Bug have both been poorly (two chest infections and one ear infection) so you can imagine what life has been like in our house! Full of sleepless nights, coughing and sad children and calpol.

Bean now has her orthotic insoles in her shoes to help correct her feet (one turns in a little, she has curly toe) which she is building up gradually wearing.

But it was physio today that threw up some questions. For a while now Bean has been crying when she has to walk. She wants carrying. Everywhere. Or pushing if she has to but she doesn’t want to walk. If you ask she says her legs are sore and points to her ankles, knees and hips. Every day she asks me to ‘stroke legs’ (rub her legs for her). So I brought it up with physio today to see if it was child stubborness or an actual issue as she suffers from low muscle tone and hypermobility.

Turns out it’s an actual issue. It’s very likely that she does have pain when she walks as her extreme hypemobility in all her joints mixed with low muscle tone means that she has to work harder to even stand up, let alone move. Physio said it’s comparable to when we do a hard work out at the gym and we ache afterwards, except that’s her every day.

We can’t push her to do to much, but we need to encourage her to walk. We also need to up her swimming to 1-2 times a week rather than every other week as we go currently to help. But they brought up the suggestion that we can borrow a mobility pushchair from them as she is too big to carry easily now. I’ve said we’ll think about it and tell them in 3 months on our next appointment. They’ve left it with me that I can ring up at any point and see her again and get one before then. I guess I just feel torn, like it would be giving up on her walking normally. But then is it fair to make her struggle on when it hurts? I mean she wouldn’t be always in the chair, just for distance like shopping / town / walking to swings at the park.

Life is unfair. Three years old is too little to be coping with pain daily. I wish I could take it for her. I wish that so much.

Christmas Shopping

Aaaand I think I’m pretty much done on the present buying front for the children. Well aside from stocking fillers! So glad to be done and obviously really hoping the children will love what they’ve been bought.
It’s so hard when there’s so much out there! Plus it’s Bug’s birthday in a week which means he gets more toys then too!
I’ve been loving Amazon’s black friday week of deals, some great bargains there that have saved me money (and that’s always a good thing, it’s a super expensive time of year).

My biggest bug bear has been the presents for extended family. Like OMG! I honestly think a better system would be we all buy for our own SMALL family unit (as in whoever lives in the house). I’d much rather my money went on my own children rather than things I fully suspect people won’t reeeeeally use. I suppose I only find it annoying because we’re tight for money.

Oh well. Nothing that can be done and I don’t want to be a scrooge XD

Orthotics

There’s always something. That seems to have been the theme of Bean’s life so far, and our newest one is orthotics. One foot is a little wonky, her toes curl oddly (originally named Curly Toe) and so she has to be measured for orthotics to wear in her shoes.

Bless her she was such a good girl letting them take moulds of her feet. We pick up both full insoles in 3 weeks and from that point go back every 3-4 months for new ones. Hopefully it will help her balance and walk.

Apparently bean is so hypermobile that her joints probably hurt her when she moves, and it makes her more tired. This is common to Noonan Syndrome. It’s an upsetting thought though to think that she might have painful aching joints at the age of 3. Even more upsetting to think she might think it’s normal that it hurts to walk around. Already she asks for me to rub her legs for her so they obviously ache.

I’m hopeful that the orthotics will help her move around more easily, but it’s another appointment isn’t it. Another thing that needs an eye keeping on regularly. Oh well, if she can keep smiling then so can I.

Happy Days

It’s always nice to get out as a family and today’s trip for a photoshoot was one of those. Besides giving easy Christmas gifts for family members (yay wall canvases), it gives us some nice (professional) pictures to admire. Definitely rate Amanda V Photography! £45 for a 15 minute session which includes every photo she takes on a CD to take away. Compared to the £300 some studios charge. She was great too, made the kids feel at home, had a massive range of props including Christmassy ones! We got over 70 photos on our disk. Definitely 10/10!

Ordered several wall canvases for assorted family members. Christmas is getting there ^_^

Cute right?

Coming to terms

It’s been three days since we were given the Clinical diagnosis of Noonan’s syndrome. Three days and it feels like a life time. I feel like I’ve read every site out there on the syndrome…and it’s surprised me how few they are. When we thought it was Williams syndrome, which is rarer, there seemed to be more. No-one has heard of Noonans in our friends and family. Hell I hadn’t and I work with children so I come across many conditions.

I feel so…I don’t know. Lucky that she doesn’t have the terrible heart problems others have faced, worried that maybe she does and we don’t know (we won’t know until the heart scan comes through). I keep searching, reading as though someone has an answer out there to tell me she’s going to be okay. That she will grow up and live a normal and independent adult life. That she won’t get picked on in school. That she will have friends and a relationship and…all those things we take for granted. But no-one can tell me those things. Perhaps she will, perhaps she won’t. I hate that uncertainty. I think all parents would rather take anything on themselves than have their children go through it. I wish I could take it away. But wishes don’t make reality.

I don’t need her to be a doctor or a brain surgeon or a rocket scientist. I don’t care what she does…I want her to be happy. I want to shield her from people who WILL be cruel because she is different. I want to save her from being upset because people teased her. I want her to have friends. And I’ll do everything I can to help her. It just hurts knowing it won’t be easy for her.

Bean gets bigger

I’m taking advantage of a personal sick day to write this up whilst the kids are out. So let’s carry on.

We settled in to life at home. Every bottle was a battle, we measured success in fluid ounces. I was a member of a rather active baby forum. I had a large group of mummy and baby friends who all had just had first children also. But none of them were like Bean. I dreamed of her draining a bottle, even one of the teeny three ounce ones. Getting her to suck was a constant struggle. Each feed took on average an hour to complete (for 3-4 ounces of thickened feed). Add to that the time it took to get her back to sleep and then the fact newborns feed on average every two hours and you had a recipe for two over exhausted parents. But we did it and did it without complaint. She was worth it.

Slowly she managed to gain weight allowing us to be discharged from the outreach team. Life fell into a routine, although every afternoon and night was marked with her loud screams. Colic hit Bean and hit her hard. Perhaps it was made worse by the reflux, I’ll never know for sure, but every afternoon at around 4pm the crying and screaming began. And continued until 11pm at night roughly. Every night for months. I could barely cope with it myself, I had no idea how to comfort her. We tried everything from baby massage, colic drops, cranial osteopathy. Anything and everything that would bring her…and us…some relief. I thought it would never end.

It did of course, after a few months. On and off through her first year we were punctuated with soaring temperatures and sickness. Bean caught UTI after UTI, each one ending us back in the children’s ward for another hospital stay whilst they tried to sort her out. She was a sickly baby and we worried constantly. But she seemed to hit some milestones, she smiled at us, she laughed, the most wonderful sound we had ever heard. Looking back in later months, comparing her with my little Bug boy, she was quiet. No babbling, no experimenting with sound. I did notice a little at the time but I told myself it was okay. Children developed at different rates. That statement was entirely true, but it became clear to me at 9-12 months that we weren’t hitting any of the milestones.

At one year old Bean began to stand holding on to things. I celebrated with glee. She wasn’t behind. And then she had another regression and lost that ability. By the time we saw her Paediatrician at 18 months it was clear we had a problem with her development. We were referred for play assessment, physio assessment, speech and language assessment, occupational therapy assessment. Appointments took time to come through though and by the time physio saw her at 2 years old, she was able to stand and take a few shaky steps.

Global Development Delay was the consensus in the large interdisciplinary meeting we had, where all the Professionals and us sat around. I’d attended such things before as one of the Professionals. The view on the other side was far more difficult. A plan was put together to help her. Play therapy, Portage, Speech and Language therapy would all be involved. She was behind in most of the key areas they assessed in. It hurt reading it, she was my beautiful talented little girl. She took so much pleasure in playing with me.

Around this time there was a lot of quibbling in our family. We were referred for an MRI as there was some question about whether the birth had caused brain damage and that was behind her issues. Some of our family felt that was definitely the case. Others felt she had no problems and the Doctors etc were looking for problems where there was none. We tried to stay neutral in it all. I saw no point in blaming the hospital unnecessarily, I just wanted to know. The MRI took place when Bean child was 2 and came back thankfully clear of brain damage. The trouble was then we still needed to know if there was a reason for her delays. We were referred to the Genetics team and joined their DDD study and began to wait for any answers/results.

My little bean – the first two weeks

She wasn’t an easy labour. Hell she wasn’t an easy pregnancy. There were weekly scans and checks because she wasn’t measuring as large as she should. Maybe that should have been a warning sign, but I tried not to think about it. Told myself that everything would be okay. I needed everything to be okay, I couldn’t imagine it not being okay.

When my waters broke it wasn’t too far before my due date and so I went through labour, still hoping for my water birth. I laugh when I think about writing my birth plan and how it actually happened. After over 24 hours of labour I was begging for an epidural, I could have kissed the anaesthesiologist who came and administered it. Truthfully I thought everything would be okay. She wasn’t moving much as I kept telling them, and they were monitoring something but they didn’t really say and when we got to pushing all I could think was at least it will be over. My baby will be in my arms and I can rest.

But even then things weren’t as I wanted. Unbeknown to me, after an hour of pushing I began to bleed. Badly. I was rushed to theatre where they attempted to use ventouse to remove her because I had been pushing and she had moved down, but then horror: she was stuck. They needed to get her out and quick and so, thanking my lucky stars I had the epidural which was topped up, an emergency c-section began. She came out fast. She came out not breathing. I couldn’t even see her, she was rushed to a team of waiting doctors and there was the worst wait of my life to hear something…anything. A cry. There had to be a cry, that was what the TV programs showed. I didn’t care that the chief consultant herself was trying to stitch me back together and there were students there learning what to do when something like that happened. I wanted to hear my little girl cry.

And she did. She was brought over to us after the longest wait ever and we held her. But her breathing sounded strange…off. We sent her back to the doctors who said it would be okay. I think even in that moment we knew it wasn’t okay. Something was wrong.

Wheeled out of theatre I was beyond exhausted and a midwife came to help her latch on and feed but…she couldn’t do it. She couldn’t suck. Her head was bruised, no doubt she was shocked and traumatised and her breathing still sounded terrible. I told myself it was normal, surely the midwives would say if it wasn’t and as a first time Mum you don’t know. We got back to the ward and she still wouldn’t feed or suck. They came to run tests, took her to prick her heel. That was the last time I touched her for a few days, not that I knew it.

When they returned it was without Olivia. She had been taken to SCBU (Special Care Baby Unit) where she needed to stay. I was shell shocked. Everyone around me had their babies and I had an empty crib and a horrible sinking feeling. I wanted to be with her but I was still numb, couldn’t move so I sent my partner up to be with her as I sat alone and cried.

It wasn’t until later someone brought me a photo of her as I was trying desperately to get up despite a numb lower body. I was moved to a single side room where I didn’t have to see other people with their babies. I had a photo.

It was the start of several hellish days. No-one was sure what was wrong with her, they gave her a lumbar puncture suspecting meningitis but thankfully it came back clear. But she wouldn’t feed. Couldn’t seem to suck. I ignored the infection that had developed in my c-section wound as I sat with her all day. Those precious moments that other people took for granted we never did. Being able to change her nappy was the only time we could reach in the incubator and touch her. When I finally got to hold her again, covered in wires a few days later it was the most amazing thing ever. She hardly felt like mine. She felt like she belonged to the doctors and nurses.

Her breathing still sounded poor and it took us a week to get a doctor to come and look during one of its poorest spells. When they finally did they moved fast. She had a camera put down her throat to take a look at what was going on. Twice. They found her throat terribly red, burned from reflux and they found laryngomalacia which caused her noisy and ill sounding breathing. There was discussion of operations but first they started her on thickened milk and omeprazole to stop the reflux to see if that helped. Slowly she began to learn to suck and drink from a bottle full of thickened milk. She had to be bribed to drink with drops of sugar syrup. It was the start of her feeding issues.

Gradually she took more from the bottle and they removed the NGT that fed her and finally, finally she was allowed to come home with us. The moment we walked out of SCBU with our baby was one of the best. She was ours. I was thankful we hadn’t been there months, scared to death because she still struggled to drink and her breathing sounded terrible. But she was home. I hoped that everything would be normal from that moment onwards and we would get back on track to the plan I had made in my head. I was, of course, wrong.

Diagnosis Noonans?

We’re…well in many ways some people would say we’re almost at the end of our diagnostic journey after three years of being a SWAN family (Syndrome Without A Name). But in so many ways we’re only at the start of everything and I’m still shocked. Still taking it in. Still trying to come to terms with something that I’d desperately tried to convince myself was just a slow start. She’ll catch up in her own time. I’ve said those words so many times to so many people. And yes whilst they are still true, the fact is she has a genetic condition that will be with her for her whole life. So whilst I can say she might catch up slowly to her peers, or she might not (okay if I’m truthful with myself probably not but I want to aim high, I want it to be easy for her), she IS different.

Since her birth she has been my special little Princess. My bean child. She looked different from the first, almost fae like, her features delicate and unusual. All parents think their child looks special, but bean child did. Nurses commented on it. And as she has grown into the ‘big girl’ three year old she is today, she has had to fight that much harder for every little achievement. Things other people took for granted we couldn’t. Didn’t.

Feeding has been a particularly hard battle from the NGT (Nasal-gastic tube) that fed her to the bottle feeding (only her Daddy or I could feed her) to weaning (another long and painful struggle), even now feeding is still difficult. A daily battle.

Gross motor skills are another area. We waited months for her to crawl, months of watching her after her peers were both crawling then marching across the room, to those first tentative steps again months after other children her age. Even now when I watch her at her ballet class with her one to one helper at her side I’m that much prouder because she battles hard for every little movement, practises over and over at home for something others can do without thinking about it.

And then there is speech. The most noticeable to strangers after her unusual behaviour, her speech is delayed. Hardly understandable by many, I understand her better than most. And she tries so hard to be understood. Yes my bean child is a fighter. Nothing comes easily to her, we work for every little tiny step and we celebrate them all.

So perhaps the genetic disorder wasn’t a total surprise but still when they say the words another piece of my heart breaks for her all over again. Because I want it to be easy and it isn’t. And it won’t be easy. Every step will be a hard won fight for my little bean child. And I know she won’t back down.