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......