The time to make a decision is coming

I  have been carrying  on with things, sweeping the floor, loading the dishwasher, entertaining the kids and driving them around. We haven't spoken much and big D had made his feelings clear before the meeting that he is against it, I'm 50/50, as usual I don't have enough courage to be 100% about anything. 

 I look at little E and feel panicked and a bit sick. Yesterday after the "big traceostomy meeting" I felt like running away with her, hiding her somewhere, a big dark cave like a bear and her cub so no one could find us. I don't want another doctor near her. shes been through enough. shes 2 years old and has had 5 operations, i want her to just be a little girl. 

And I keep thinking how will I cope?

These thoughts are totally selfish because ultimately it doesn't matter about me, it's little E  who we are trying to keep alive. And aren't I lucky that I am able to keep my child alive? A hole in her throat is nothing compared to losing a child. If that's what she needs then I will have to just shut up and cope with it. 

She's just started to talk in sentences and it's so lovely to have a jibber jabber conversation with her and I'm sad that she will lose her voice (maybe not forever but for a while) I'm overwhelmed at the thought of her being in hospital for 4 months and I'm worried about the suctioning and care of the tracheostomy. I've read horror stories about kids getting mucas plugs and suffocating.  Every amazing parent of a child with  a traceostomy has told me I will cope and things will get easier and she will thrive.

 They all sound braver than me. 

Is she really that poorly? The doctors tell me she is and I know deep down she is but what if she gets better? She's strong, maybe she would cope without it? Doctors don't always get it right!! 

I got asked today why I have turned down the 7 nights of carers, I said its because I want my house to be my home again. But at our first stay at little havens hospice a lovely and crazy lady once told me "number one rule, don't turn away help!!" But it's not help, they would be more help to me if they cleaned my house cause all they do is upset Little E and cause me stress.

The time to make a  decision is coming very soon, but not before they have done every single test possible to see if she's improving and show some hard facts and figures to big D. I'm not like him, i don't need evidence  i can see little E  works hard and Some days is on the wrong side of living on the edge.

 someone just grant me one wish? 

I have aged.......

When the doctors managed to get little E off of oxygen we were over the moon.
  It was a major hurdle that she had lept over years earlier than the doctors had predicted. And our happiness was further elated by the doctors discharging us from Great Ormond Street a week before she turned one. Her first birthday and she no longer needed continuous oxygen, Such a massive achievement.
She continues to keep leaping over the hurdles at such a rapid speed it's hard to keep up with her (especially now she has her walking frame!)
So is her feisty toddlerisms(??) wants to walk, wants to be held, screams when she wants something....... the reason for my utter exhaustion?
 nope it's the flipping bipap ventilator that little E has to go on every night.
I dread bedtime.
I loath that bipap machine.
I hate holding her down whilst big D puts the rugby style hat on her and pulls the tube over her little face and turns the noisy machine on that forces air into her lungs with a pressure that keeps them inflated to allow her little lungs a well deserved rest ( lets face it she basically runs a mini marathon every day and they only telltale sign is her sweaty head and fast heart rate).
I know she needs it.
I see how grey she gets if we don't put her on bipap for a couple of days. Sometimes we go to bed and neither of us can face the battle with her and the dreaded bipap machine that night. But by the middle of night when her heart rate is high and she's working too hard the guilt sets in and I'm sat wide awake watching the sats monitor.
It's a big responsibility knowing your daughter has little lungs that are working really hard and the only way to help them is to hold her down and put a big scuba diving style mask on her screaming face. when its finally in place and little E has lost the battle, I climb into bed (little E is in a cot next to us) and lay in the darkness and listen..... I guess the sound of bipap may be comparable to sleeping next to a snoring elephant (do elephants snore?) or a giant child drinking through a straw and sucking up the last bits from the bottom of the glass, or Darth Vader with a mouth full of popping candy?!!! ITS NOISY!!!
It's aged me!!
I look tired ( ha obviously) but I feel really tired, tired of a situation that I can't see an end too.
No contended baby book can resolve this babies sleeping problems ( if you do find a book let me know)
I wonder what super nanny would make of this situation eh? naughty corner and reward charts wont fix this!
Its not that little E doesn't want to sleep, she cant.
I am starting to meet lots of  special needs mummies and they all look great, but sleep deprevation is always a common factor among us. So I know I'm not alone (doesn't make me feel a whole lot better)
writing about it doesn't fix it but i do feel better after a good moan (I'm very British!!) An occasional night carer would really help, but lets face it Little E will be at least 5 years old before social services organise that!!!


I found these photos on Little M's laptop, they have really cheered me up, Its not always so bad.......................

My 4 daughters

Our little Pumpkin got teeth!!

10 months into our new life with the gorgeous little E I have learnt so much science and medical information that it makes me wonder what the heck I did all through secondary school!! (mucked about and fell asleep mostly- oh and flirted with the boys!!)  I have found amazing support via face book and feel like I have made good friends with mums of Escobar babies from all over the world, the USA seems the most advanced and knowledgeable (there aren't many of us so we closely stick together) Including little E there are now 5 in the UK, One older woman of 25 years, 2 gorgeous sisters and a little boy and then little E is the youngest.
 Its amazing to have found them all and I have learnt so much from them.
I'm learning to cope with unexpected questions and reactions, I'm gradually learning how to speak to the doctors (with direct don't mess me about tone!) and I'm unwillingly accepting the chaos of appointments and hospital stays.

 But I don't think I will ever get used to the stares.

Today Little E is 10 and half months and she has finally cut her first tooth. "Our little pumpkin got teeth" The sun is shining and little E has got a tooth, its all I needed to put me in the best of moods, I was beaming with pride and had a real spring time stride in my step.
My mum and I went into town to get little E a sun hat as her eyes are very sensitive to the bright sunshine. From the car park to the shop i clocked every single person stare, look away then stare back.

Thinking I was being paranoid I took a deep breath and held my head up high but there was no getting away from the blatantly obvious head turning stares that my little E gets. It bothers me.

Why does it bother me?

She is a head turner with her bright red hair and big blue eyes and cheeky nature. yes some do stare because of that but I can see the ones that look with pity. When my mum pushes the buggy I sometimes walk behind and i hear the comments "Oh that poor baby" "oh dear I wonder whats wrong" "is that baby on oxygen?" JUST ASK ME!
I cant be the only mum with a disabled baby in town can I? where are they all? Are they hiding away because they cant be bothered with the stares? Maybe I will get to the point where I don't want to go out. I'm not sure I could have coped on my own today. Its hard being stared at all the time.

During our lunch (Little E being fed via her NG tube with a gravity feeding set) a mum and her toddler approach me and all flustered she says " I just wanted to say that I'm in awe of you, how well you are coping and how difficult it must be for you, I find my "well" daughter hard enough work"
"Oh thank you" is all I can bring myself to say.
At first I'm pleased she has spoken to me, that was nice I thought.
Then I felt weird..... A total stranger is in awe of ME?  why? I'm just a mum feeding her baby. I don't want to feel as different as people make me feel.

I don't want little E to be different. I will probably embrace it as time goes on, but right now I don't want to accept that my daughter is gonna get stared at her whole life.

 When we got home we were laying on the floor playing and she was staring at me and it made me cry; happy and sad tears. I don't want anyone to make fun of her. I looked into her big blue eyes and I made a promise to her that she will grow up knowing that she is perfect, and amazing and the toughest hard arse cookie that ever existed!!

I can hear big D in my head saying "Stop Worrying!!!"

I'm so proud of her and I  just want to gobble up her cuteness, I don't want to dwell on her problems or constantly worry about them.

Es and Nana xx

We had a cup of tea and talked about her being asleep.

Little E slept for four hours this morning!
The first two were fantastic, I leapt around the house. flung open the windows and cleaned! I felt so energetic. I emptied cupboards of junk and scrubbed my kitchen work tops. Then I kept thinking any minute now she will wake up so everything was done with a real sense of urgency, just get one more thing done before she wakes up, I stuffed a load of washing on the machine, sorted out some washing, had a shower.....checked the baby monitor was working?
Yep still working.
So I dried my hair, had a good chat on the phone to my friend, moped the floors, hoovered.
She was still asleep??
Was she ok?
I went upstairs to check the sats monitor was working (it would have alarmed if it wasn't durrrr)
still asleep?
I now didn't know how to react. Was she ok? Bit sweaty and wheezing but sats were 97 and heart rate 110 all pretty normal for little E but it was not normal for her to sleep this long. I just couldn't relax, I imagined her all floppy, possibly slipping into a coma or something. I had a feeling in my tummy of guilt, maybe I should have taken her to the hospital cause her chest infection hasnt got better.
I sat and watched her sleep, then I called my mum to come and watch her sleep!! We then had a cup of tea and talked about her being asleep and wasnt it unusual that she was sleeping so long!
Mum went home.
I did an online food shop and she was STILL asleep.
I thought come on you silly woman get a grip she is fine she obviously just needs a really good sleep.
So I went and found my book, which was thick with dust (well I have been a bit busy!) Sat down feeling pleased with myself that the house looked pretty clean, I was dressed and hair done (miracle) and feeling quite excited at the prospect of reading my book,I curled up on the sofa, opened the book and then......
She woke up!

Note to self: enjoy the peace while you can.
Note to self: you could have had 4 hours sleep this morning you daft numpty!!!

the smile she gave me when she woke up was just perfect!

this child has a long list of problems........

Great Ormond Street hospital is becoming very familiar to me. It is a very surreal environment with a busy waiting room crammed with children of all different disabilities, shapes and sizes.
 Its the one place that you can look at a child and smile and they know they are not being judged, parents give a silent nod of understanding and empathy, and quite often I will pass a child who looks so poorly i get an ache in my tummy.
And it makes me realise that Little E is actually doing really well.

 Quick update on Little E: She is 9 and a half months and since last week has been sitting up on her own and loving her new Independence!  every couple of weeks she gains weight (not alot but its a gain) She is using her hands and feet brilliantly, she is making lots of sounds and they are starting to sound like mummy!!! She is at that clingy age and screams at anyone that's not family! and she is giggling now! still on oxygen and still getting nasty old chest infections but she fights them off pretty quickly.
So me and big D are proud at how she is thriving and developing.

The trouble is she has a very rare genetic syndrome called Escobar syndrome or MPS variant Escobar it means the same thing- its so rare that nearly all the doctors we meet have never treated a baby with this condition so they are guided by medical reports which usually paint a bleak picture. Under all their pages and pages of medical notes and long words that sound robotic is my gorgeous little girl, I wish they would remember that sometimes.
I know they have an important job to do but I always feel like listing all the problems has a major down effect on me, its written in her notes, does it all need to be said? negativity seeps through the pen in their hands!
Our last visit to GOSH was for a swallow study (xray of Little E's throat to see where the milk is going) and to see the hand plastic surgeon. 2 appointments at 11.40am and 2pm (left home at 9.15am got back at 7pm) The swallow study went well, not too traumatic for little E. I'm very happy, she drank some milk and ate some chocolate mousse, she did good.
 Doctor says "bad news I'm afraid" (why must they start a sentence like they are a mechanic doing an MOT on my car and have found a major fault "bad news mate, your gonna need a new 2valve multi cylinder blah blah blah")
The swallow study showed milk collecting in the back of her throat as her swallow is not strong enough to take all the milk down, and because when you swallow your airway opens its "likely" the milk is going on to her lungs, she is being referred to the gasostromy team (oh goody we haven't been to that part of the hospital yet!!) She doesn't have a very big "reserve tank" (car metaphor again!) so any extra strain or illness could prove too much for her.

 Well if that's what they think they why do we spend so much time at the hospital having tests done on little E? why is she prodded and pocked and needles and probes stuck in her and why is she wired up to machines, xrayed, starved, then force fed. why do we drive for miles and wait for hours for appointments?                why cant she just LIVE?

Are you related?

I shall relay the meeting, how it has been placed in my memory, its probably in the wrong order and it may not all be totally factually correct  but this is the meeting with the geneticist (a word that I still cant say properly!!)

(very well dressed, and elegant lady enters room)
"Are you two related" (pointing to big D and I)
"Errr no" says big D
(taking pictures and prodding little E she turns to me and says) "well yes, she obviously has something rare, she may well live till she is one years old"
"dwarfism, mentally retarded, special needs, deformed, rocker bottom feet, coat hanger ribs, webbing, short neck, low set ears" (not sure in what context but all those words were said!)
"OK" I whisper (then I break down and start sobbing hysterically, big D takes me back to my room)
(my mum then follows geneticist out to lift and starts having an almighty go at her!!!!)
"how dare you speak to my daughter and son in law like that, she has just been given  some tablets to stop her milk, she gave birth 2 days ago, yesterday we had a blessing and now you say she will probably live till she is 1, where is your bed side manner?"
(elegant geneticist lady says sorry)

later on I met her again, she was lovely, kind and very helpful, She always said it was hard to tell with little E because she was so swollen.(this is true, we took photos every day and everyday she changed) But she always felt we would eventually get a diagnosis for little E. It was all down to the hard work from Great Ormond Street and Oxford Radcliffe hospital Genetics teams that little E finally got diagnosed at 6 months old with Escobar syndrome. CONGENITAL MYASTHENIC SYNDROME (CHRNG GENE)
(You will have to wait for big D to do a blog to explain all that!! don't worry I'm working on it!)

The important things that I understand from it are: its not degenerative, it doesn't affect the brain, you can live with it, physio and O.T can help her joints and muscles loads.
The bad things are: all the damage was done in the womb, her muscles didn't develop (they didn't get the correct signals from her brain) her diaphragm isn't working properly, her lungs are small, partially collapsing every time she breaths and have got fluid on them. she has joint contractures ( she is very stiff, cant straighten her legs and open her hands) her feet are twisted and her hands are different. Everything inside is squashed up! Imagine a baby trying to develop and grow even though they are scrunched up in a ball. I'm not sure if thats scientifically correct but thats what she looks like!

my hands were shaking

To summarise: the damage has been done! no medicine can undo it all, it all happened in me and i was happily wallowing away on the sofa eating and moaning oblivious to the fact that my baby was dying inside me, if she had been born a day later she would have died.
                                                  I could not imagine that.

For the first few months lots of different diagnosis were hopping about like little random frogs, jumping from one doctor to the next .It felt like one doctor would come in and say something and a few moments later another consultant would come in and start saying something else. I quickly had my favourite consultant and as narrow minded as it sounds I very quickly stopped listening to the other consultants, it was Little E and Dr L all the way!! We both had blood taken and rushed through as they were convinced she had UPD 14 paternal (faulty gene on fathers side) prognosis- babies dont survive.we waited over two weeks for that result, poor big D worrying that it was his fault and beating himself up about it. They then said it could be my anti bodies so then the shoe was on the other foot and I was thinking it was all my fault. Funnily enough it is both mine and big D's fault, we both carry a faulty gene that causes this condition (you have more chance of winning the lottery than meeting someone with the same faulty gene as you, we have never brought a ticket!!)

(there is a full head of redness under that hat!)

little havens christmas party (my precious family)

Door buzzers and hand gel!

I can't sleep.
Starting this blog has unleashed my emotions and basically now I'm an emotional wreck! The messages of support I have received from my friends has been so warming and encouraging that I'm fired up to carry on with little E's story.

Little O really cried when she read the blog, I didn't want the girls to be upset. It seems like a distant memory to them and I'm glad of that. I'm only remembering to help me forget! it's funny how at the time she was so strong but now looking back she finds it so upsetting. Maybe she had forgotten or maybe she never believed little E was that poorly?
The doctors certainly thought she was, they came to see us early the next morning and asked if we wanted a blessing, they said she had nearly gone so many times during that first night. To start with I said big D and I were not very religious but then she suggested we just meet a church of England minister and have a chat. What a lovely women- you don't need to believe in god to believe in love.

I can't remember what time best friends D and K arrived but I know that they hugged me and big D so tightly I suddenly gained some lost strength. D had walked out on her sons football match and K had left her hubby to cook dinner for 20 family members - true buddies!  by this time everyone knew: Big D and I were getting endless texts and phone calls with love and support. I have never experienced anything like it, I felt embraced and overwhelmed by my family and friends.
 There we all were friends, family,favourite midwife and amazing nurse J, even tiny niece and nephew came, squashed in little E's room having a blessing for our dying baby.
My niece little R said to me awww look at her little ears she is beautiful!
I had forgotten what her ears were like, where her head was so swollen her ears were squashed and sunken like little cabbage patch kid ears or cauliflowers!! 8 months on her ears are fine and so is her hearing ( one less thing to worry about!!)  Bless her, she didn't see the wires or the big ventilator breathing for little E, she just saw a little baby. Everyone else in that room saw a very poorly, poorly baby.

  Even though they told me she wasn't in pain, they were wrong- She was in pain, I was adamant. I didn't want her to suffer, I wanted her to go if she was suffering, she was on morphine, and a machine was breathing for her. I kept muttering maybe she needs to just go, I don't want her to live like this. She didn't look real, and I didn't feel like her mummy, I was grieving more for the baby that had been taken from inside of me, than my actual dying daughter. I think some days I still have that grief but luckily it dispels quickly when little E gives me a smile.
Big D always believed she was going to live, if he ever doubted he never told me, he always said she is strong she is gonna make it. Everyone says little E and big D are two peas in a pod maybe she has his inner strength, could it be the red hair connection? a secret ginger strength!! thats ginger not ninja!!

We had no rules, anyone could visit and the girls were free to walk the long corridor from my room to little E's. (possibly it turned into a scene from Casualty for them, they were so responsible and independent , my girls have always been great in a crisis.)
 Every door had a buzzer, every entrance hand gel, the girls were very thorough. I only used a wheelchair for 2 days, most of the time I honestly didn't feel the pain.
Service finished, big D took me back to my room for a lie down as my feet had swollen to the size of shreks! Then doctor came to give me medication to stop my milk.(no milk to feed my baby, no baby) It all felt very final.
People came in and out of my room that day, bringing me food, gifts, hugs, support. Maybe it was love that kept her going. I know that's what big D believes.
We only found out 3 months later at Great Ormond Street that her diaphragm was really high up squashing her lungs and her diaphragm was not moving so how she survived I don't know she was being squashed from the inside.
The diaphragm placation ( pulling it down and stitching it in place) was done on the 1/8/11 , 7 hours in theatre but it improved her chances considerably.
Those 2 days seemed to last forever, but the next day a specialist Geneticist came down from Great Ormond Street and that was a meeting I will never forget......