Tuesday, 25 August 2009

I am numb.
Still don't think it's suck in.
I think it's worse than I could have imagined

We've been at the hospital all afternoon. Jenn, holly, jocalyn ( other blog mummies of babies with similar problems)u r the only ones who know how my head feels at the moment. Exhaustion. Information overload. Detatched? Headache etc

Today hope has had:
Blood tests. Oh she sobbed. It took 45 minutes of trying different veins and squeezing b they got all they needed. Urine samples taken
An ultrasound to check her liver, kidney spleen and heart
An ECG to check her heart

Oh and to top that, next week she has to have a lumbar puncture :0(

Why r they checking her organs u may wonder. So did I. Wasn't it enough she had all those problems in her brain?

Her previous blood test showed high levels of lactic acid in her blood. Anything under 2 is considered normal. But one would expect it to b under 0.5 in an infant.
Hopes was (and reconfirmed today) 5.75
This acid, will build up
In her organs. Eventually.

So. She has a rare metabolic disorder

Every cell in her body is wrong

Not as it should b

Her body is not functioning properly

There is no cure

Only treatment

It will take 2 weeks before we get the actual name of the syndrome. But dr ch thinks it's 1 of 4. All of which are fairly similar. It's bad news. He suspects M.E.L.A.S syndrome. I'm hoping
The other things he suspects r much nicer. And that it's not this

Here r some bits of info copy and pasted from net

MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development.[3] Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).

Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.



There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. Enzymes, amino acids, antioxidants and vitamins have been used, but there have been no consistent successes reported.

WhAt else is there to say?

:0( my baby

Xxx

10 comments:

  1. oh sweetheart I am so so very sorry. Nothing I can say will ever ease this pain. She is such a precious darling little girl who has defied all the odds to be here and grace us with her gorgeous little face and my heart goes out to you all
    xxxxxxxxxxxxxxxxxxxxx
    Vicki L xxx

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  2. Kelly (Shaunas mummy)25 August 2009 at 12:38

    Oh Caroline! I have no words. You are all in my thoughts and prayers, Kelly xxx

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  3. Im so sorry to hear this news i do not know what to say apart from that i am thinking of you all
    Katy Rogers xxxx

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  4. Kate (Jacob's Mummy)25 August 2009 at 12:47

    Caroline there is nothing I can say that won't sound pointless. I am so sorry for you and for your family and for Princess Hope. She and you continue to inspire, against all the odds. Hugs my friend.
    xxxx

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  5. Caroline,
    Just wanted to say what an amzing blog you have here of a very special little girl. I don't know you personally but have followed Hope's story on SANDS and like you say on here she knows such great love from you and her family.
    Thinking of you and your special little girl
    Love Caz (Cayden's Mummy) x

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  6. So very sorry to hear about the suspected syndrome. Take a deep breathe and savor the good moments with Hope.

    Always have positive thoughts and hope for the future of your child even if it is in the back of your mind.

    Many prayers to your family.
    Hugs.

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  7. Caroline, i have just read all of this blog, tears are pouring, i dont know what to say or write. You are in my thoughts.
    V xxxxxxx

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  8. Oh Caroline. I so wish I didn't know what any of those terms meant, but as you may know, we are facing the same thing. So I don't really know what to say. My prayers are with you. Oh, and get a second opinion!!!
    ~jocalyn

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  9. Hi Caroline
    What can I say to you at this moment except that you and your very special beautiful little girl are in my thoughts and prayers xx

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  10. Hi Caroline
    Just can't get ur wee family out of my head, u r such a special mum and ur family need u so much, I know that you will find the strength from somewhere. Everyone of ur friends r thinking of u at this time and u r in our prayers xx

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