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!
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| my hands were shaking |
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!!)
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| (there is a full head of redness under that hat!) |
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| little havens christmas party (my precious family) |
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