Life with our beautiful angel

I suppose right back to the beginning is the best place start.  I met my other half just over 6 years ago at my local pub.  He was the brother of someone I knew from going in there.  It was a karaoke night yet we spent most of the night talking.  Although I never believed in love at first there was definately a click and we arranged to go out the following Saturday and I remember leaving and having little butterflies in my stomach.

As it turned out we continued to text during the week and he couldn't wait til Saturday so he came to see me Friday, and then Saturday as well and that was pretty much it - it was love.  I knew he was the man for me.  Three weeks later I flew out to Cuba on holiday for a fortnight and he asked me if I'd marry him via text message whilst I was at the airport flying out!  Of course it was followed 3 months later by a proper proposal on the beach at Hayling Island.  We discussed children right from the start and, although not planning to start a family immediately, we talked about names and what we thought they'd look like and how many (him 2 me 4/5!!).

I'd previously had some tests carried out as I always thought I had problems in that area and found out I had polycystic ovaries and was told I had a less than 5% chance of conceiving naturally.  Despite the odds November 2005 we met for lunch and I took a pregnancy test and low and behold it came back positive.  August 2006 I gave birth via c-section to Archie George Henry - the most perfect little baby boy I'd ever seen.  I absolutely adore being a mum - it's all I ever really wanted to be.  Not that I haven't had a successful career prior to having children but it was all futile cos all I actually wanted was to be a mum.

July 2008 I found out we were pregnant again.  I was sure it was another boy - we already had a son, my other half is one of 3 boys and his brother has 2 boys.  Everything in my brain said it's a boy.  Even though I carried differently than Archie.  I had SPD with this pregnancy and spent most of the 2nd half in constant agony.  It didn't bother me (well it did at the time it doesn't now of course).

Sunday 5th April I was convinced I was in labour.  As I'd had a section with Archie I never had all the labouring stages.  I went to maternity to be told I wasn't actually in labour and to go home. Monday 6th April early afternoon my contractions started getting more regular contractions (or tightenings as the hospital said they were) and they were getting stronger. I called the hospital about 11.45pm and said what was happening and they said I could stay at home as long as I wanted to and I said I really wasn't happy with that I wanted to come in and be checked over. Although contractions were getting stronger and closer together my waters hadn't broken. I called dad and he came and got us at about midnight and took us to the hospital. We got into labour ward about 12.10am and my contractions were quite strong. I kept feeling the urge to go to the toilet but when I got there I didn't actually need to go.

I had to sit in the waiting room until about 2am before anyone came out to see us. They took me into an admissions room and hooked me up to the monitors to see how far along I was. I kept asking for pain relief as I was in mega pain but they kept saying oh we've got to see what stage you're at cos if you're still the same as Sunday we'll have to try and see what's causing the pain. I was like "ahhh probably the baby coming at a guess"

So finally about 2.45am a midwife examined me and said oh good news you're 7cms dilated and in full blown labour - I was like YOU THINK!!! So they moved me through into a delivery suite and I got all gowned up and onto a bed and started puffing on the gas and air. I asked for an epidural and they said they'd send the anaesthetist in. So I carried on puffing and the pain was getting worse. All the time the midwife isn't even there. I'm squeezing the life out of my other half's hand and puffing and squeezing and puffing and squeezing then all of a sudden my waters broke.

My other half went to get the midwife who came in and had a nose - I asked for the anaesthetist and she said she'll be here in a bit then went out again. So I carried on puffing away - what seemed like forever she came back and injected some pethidine into my IV and before she'd even finished at 5.35am I pushed little one into the world.  I was really proud I managed, not just to have a natural delivery, but with just gas & air cos the pethidine hadn't even had a chance to work yet. Only slight downside was I tore pretty bad so had to be stitched from what seems like ear to ear.  We had chosen the name Mia but when she came out she didn't look like a Mia so we waited a little bit and went with Lily-Mae.

I was given a little bit of recovery time and about 8am they sent me onto the birth centre and then said if I was ok they'd send me and little one home so about 1pm I called to ask to be collected! All done. 

Archie is a doting big brother - he absolutely adores his bubba girl as he calls her and has done since day 1.  We're so fortunate never to have to worry about jealousy with him.  The first few months were great - like everyone it took some adjusting to having 2 children but after a bit of juggling you just get used to it.

Lily-Mae seemed to be developing normally - no problems at her 6-8 week review.  She was slow to take a bottle but I didn't see a problem just think I noticed it more cos her brother was a guzzler.  Obviously now in hindsight there are little things that now make sense.  She had literally just started to roll over at 6 months and Archie brought home chicken pox from his pre-school.  Naturally Lily-Mae caught them and boy did she catch them bad bless her.  At the time it seemed to be a catalyst for continued poor health for her.  She slowly recovered from that, then it was a cough and cold, then sickness & gippy belly.  The she'd get a little better and another cold.  All the time her development seemed to stop completely, if anything it regressed.  The health visitor kept saying ohhh it's just developmental delays due to prolonged periods of illnesses.  Christmas came and boxing day she had her first bronchitis and boy was she poorly.  There was honestly a time late on boxing day I thought she might not make it.  From that she had another bronchitis.  All the time she is never getting to 100% full strength and still not developing as she should be.
We got an appointment for her 9-12mth review and both agreed that we were not going to leave without a paediatric referral as there was definately something more serious than just development delays.  The health visitor agreed and told me to get my GP to do a referral that day.  Luckily my mother-in-law works in NHS and used to work for paediatrics so she called in a few favours and got us an appointment Monday 29th March. 

We saw the paediatrician who agreed there was an underlying problem causing her floppiness and recurrent chest problems.  She said it was possibly neuromuscular.  She sent Lily-Mae for numerous blood tests and told us that the results could take up to 6 weeks to come through.
I'm a demon for the google and when we came out I swore up and down to other half I wasn't gonna look cos I'd just panic myself.  Needless to say we came home and I googled genetic neuromuscular disorders.  Up pops a link for SMA - I clicked and the tag line said "BIGGEST KILLER OF CHILDREN UNDER THE AGE OF 2".  I felt sick to my stomach and shut the computer off.  I knew there was no way my beautiful little baby was ill with a condition like that - I'm her mother for gods sake I'd know something like that.  We went for the blood tests Thursday 1st April.  Saturday 3rd April I had to take her to hospital as she was poorly again and her breathing was laboured and shallow.  Hospital confirmed she had pneumonia but said it was only mild in her lower lobe of her left lung.  They prescribed some antibiotics and we could go home.

Wednesday 7th April Lily-Mae turned 1.  Although we had a little celebration we didn't have a proper party as she was still recovering from the pneumonia.  Plus my sister and father-in-law were both ill with coughs and colds so I'd banned them from the house.  It was already evident to me that she was going to suffer with her chest so I didn't want anyone near her that was even slightly snotty.  It wasn't a huge problem cos she'd have plenty more birthdays.

The morning of Friday 9th April we got a call from the paediatrician to say the results were back already and could we come in please that afternoon.  We went in the clinic and the doctor came followed by a community nurse.  In the room we sat down and she explained she'd had the results back and she was sorry but the news wasn't good.  Racing through my mind is my poor baby might need an operation or a wheelchair or months of physio and rehabilitation.  I looked down at my precious girl in her car seat and she is smiling back at me and her dad.  Then the doctor says I'm afraid she has Spinal Muscular Atrophy Type 1.  Although I didn't see it I also think at the same time she reached down my throat and ripped my heart out.  I burst into tears and grabbed my other half.  Completely forgetting I hadn't told him I'd googled anything - he had absolutely no idea what that meant - what the prognosis was.

The doctor explained a little more details and you won't be surprised to know he obviously caught up very quickly.  I swear you could hear our hearts break on the moon.  All the time gorgeous girl is looking up at us smiling.  Statistically children with Type 1 don't make 2.  It will probably be respiratory failure from a chest infection which takes her.  Hence why she'd had so many chest infections.

We had to go back to my dads to pick Archie up.  I remember my sister opening the door and saying "everything ok?" and I just shook my head.  Of all the days my dad was down the other end of his long garden.  She kept saying "well what's up" and I just said "you'll have to wait till we get to dad cos I can't do this twice".  Needless to say the tears shed in that garden could of cured the drought of a third world country.  Everyone was in complete and utter disbelief.  We then had to leave to go to tell other half's parents.  I think by this stage we were just completely numb.  I vaguely remember feeling a little like I was having an out of body experience.  It was like I was watching everything going on from the outside.

Sunday 11th April we woke up and Lily-Mae was a bit cranky.  She'd finished her antibiotics for the pneumonia and seemed to of been responding a bit better but today something just was a bit off.  We went to visit in-laws and she seemed to perk up a little bit.  She was still a bit crabby but I just put it down to her being tired.  We went to my dads and we hadn't been there that long and she started coughing and struggling to catch her breath.  Her breathing started getting shallow and fast again so we left Archie with my dad and took her straight to A&E.  They admitted her and took her straight onto the High Dependency Unit on the Children's Ward.  The Head Consultant came in and told us the pneumonia was back and we should face the reality that this could be the time that could take her.

I mean seriously we only found out 2 days before and now this - to say whatever faith I had was wavering is a profound understatement.  Dr Seibre advised us that the next 24 hours were crucial.  She was gravely ill.  We had to call everyone up the hospital and tell them the prognosis.  That night (to date) was one of the longest of my life.  She was given IV antibiotics and oxygen.  I just sat there and watched her almost lifeless body move ever so slightly now and again.  We both thought the worse.  What I didn't give her credit for was, even thought she was only a year old, how much of my fight she has in her.  She made 24 hours, then 48.  Then she started to turn a corner and improve.  It still brings a smile to my face that the only thing that managed to bring a smile to her beautiful little face was her big brother.

After a week she was well enough to be discharged and for us it was the healthiest she'd been for over 6 months.  For the first time in ages she didn't have any secretional build up in the back of her throat.  She was stronger and healthier.  She had some colour to her little face.  It was amazing.  Still in the back of your mind is the diagnosis.

Touch wood since then she has been virtually free from a chest infection.  She did get a bit snotty and have to have a course of antibiotics.  The doctors at Great Ormond Street think there may have been a consolidation in her lower left lobe linked to the last pneumonia.  She did have a couple of days in children's ward as she got a sickness bug from her brother.

At the moment some of our time is filled up with various appointments - community nurse, respiratory specialists, physiotherapists, occupational therapists.  We are also under Great Ormond Street with her.  Our first appointment with GOSH was one of the first positive appointments I remember.  Up until then most of our appointments had been all about the prognosis and deterioration and "end plans".  GOSH actually talked to us about preventative stuff that may help her a bit.  She was assessed and we took a little hope from the fact the she doesn't fit into the standard mould of a Type 1 SMA baby.  On their scale she is 32/56 which means she is closer to Type 2 (which has a much long life expectancy - although I don't take too much from this as I fear it is false hope).  Trust me when I tell you there isn't a minute of a day that it isn't there lurking in the back of your mind.  We now have proper seating for her which means she can sit up more and play more interactively which naturally she loves.  I also had to take her to GOSH for a sleep study.  When anyone sleeps they naturally under-breathe.  The doctors were anticipating that with her condition she was under under-breathing however the study showed this wasn't the case.  They decided to put her on a bi-pap machine which is a little mask she wears at night to help support her breathing.  It fully inflates her lungs which should help promote a bit better lung health and put her in a little bit of a better position if a chest infection should hit.

Although you can't help but think about it we don't focus on what time she has left - we put all our energy into what time she has here.  We got both children christened and had a lovely day.  We also got married because it means everything to me that we marry whilst Lily-Mae can be there.

We have hard days - especially with Archie.  He is going through a stage of "when Lily gets bigger".  He is obsessed with getting her some Lelli Kelly shoes when she gets bigger.  I hated the John Lewis advert everyone raved about with the girl growing up and had to turn it off every time it came on.  I was ordering Archie's school uniform last week and filling the form in, out of nowhere, it hit me I probably won't be doing the same for Lily.  But there is always something like that.  People always say you can't think like that but the reality is you do.  But we choose not to let it rule us and that's the difference.  People say to us "oh I don't know how you cope" and we always say "well you just do" but I said to my other half now and again it's nice to just sit down and give ourselves a pat on the back and a cuddle because there are some people who don't cope.

I know unequivocally I would not of had or continue to have one minute without her.  She is so perfect and beautiful and continues to bring so much joy to our lives.  She is as bright as a button and has a vocabulary that exceeds her ages (smart like her mum).  I will love her forever and would give my life for her to have hers.  Her and her brother are our world.  My only hope is that she doesn't suffer or feel pain.

So that is the story up to now.  I hope to be able to fill my blog with memories (both good and bad) so I'll have something to look back on.

Always improving

The occupational therapist came out on Monday 26th July with a sales representative from a company called R82 to supply a chair for Lily-Mae.  It was amazing to see her sitting up with the correct posture and holding her head on her own for the first time in ages. So exciting - it comes in pink as well and if we are really lucky the head restraint has speakers in and I can plug my ipod in!!

She is just continuing to improve to defy the odds.  She definately doesn't fit the mould and if she is my little girl she'll break the mould without a doubt.  She is now managing to hold her up for longer periods and sit aided for longer and longer.  We have also had another sales rep out for a new specialist cot next week.  Just gotta find some cool sheets to help with her getting to hot.  Next appointment is with a company called Leckey who are assessing her to be supplied with a standing frame called a squiggle.  Naturally my colour choice is pink.

We have a review appointment at Great Ormond Street Hospital middle of October and I expect them to be pleased with the improvement she has made.  She has changed so much since she was first seen by them.  Her speech is improving - she says a new word nearly every day.  Her latest are clap hands, lager, and counting three, four.  There is not a day go past she doesn't make us smile or laugh.  She is such a little character.

We still have 1000 questions and I'm a nightmare with my little notebook.  I make copious amounts of notes at most of her appointments.  I think part of it is my coping mechanism.  When we get copies of reports I take a copy and go through and highlight any words I don't understand then look them up and write down what they mean.  My opinion is she might be their patient but she is our daughter and the more I know the better we can help her.

Appointment and Equipment Updates

We had an appointment Tuesday 21st September at Heatherwood with Dr Ed Blair who is a Genetic Specialist from Oxford.  He went through a little bit about how the gene anomoly works and how it would also affect any future pregnancies with the odds being 25% (1 in 4) of a future pregnancy being affected by SMA.  Statistically both Jason and I are carriers and these blood tests will confirm that.  CVS Testing will be able to tell if the pregnancy is affected.  We decided to leave the testing of Archie until he was older.  This is one of the first appointments in 5 months that Lily-Mae was poked and prodded which pleased her no end.

Lily-Mae's R82 chair has now been on ordered 8 weeks so fingers crossed we should be taking delivery soon.  Also her beautiful new white scotia cot from Centromed should be here within the next couple of weeks.  We also have a sales rep from a company called Leckie coming out at the end of October to carry an assessment for a standing frame called a Squiggle.  Now all we need is a lovely 5 bedroom house to fit everything in to.

Lily-Mae has her follow up appointment at GOSH on 14th October with Dr Robb and Physiotherapy as well as a follow up sleep study to check her bi-pap levels are correct and don't need adjusting.  I am trying to get a repeat videofluroscopy squeezed in as well so I can hopefully give her more tasters orally.

Her speech is coming on leaps and bounds - she says lots of words including mum, dad, archie, nana, dad-dad (grandad), bobos (auntie jodie), bath, cake, apple, horse, dog, chicken, bird, lub u (love you), pub, lager (courtesy of her dad), spoon, book, sam and lots more.  I have to call our local Portage team who are going to come round and do some learn and play activities with her which I hope she'll enjoy.