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
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. 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
1 week ago