mitochondrial diseases that effect neurologically

[amom2]

IN the list of ' Topic* ' I could put CP or Myelin Disorders or Parkinson's Disease or Attention Deficit or Speech or Autism (this was the one dx that caused loss of time and a Dr. Zimmerman at the Krieger center in Baltimore dismissed autism and saw this as what it was, a metabolic error) okay, back to the topics....Movement could be one, Ataxia as well, and sadly, the rest of her situation doesn't fit a 'Topic'.  

This is my problem for my 6 yr old daughter Anna.  Very intelligent little girl who is loosing very slowly the ability to walk and talk.  Not in the typical fashion that is understood by medical science...this isn't appearing to be demyelination or plaque that creates MS or strokes or other possible way for neural degeneration.  Hers, is seeming to appear processes of fuel (ATP) or energy that isn't sufficiently providing neural fluids (ionization) this is her seeming problem.  Has anyone ever heard of this?  She was born with out a thyroid, been on levoxyl since birth.  Yes, I know about those types of disorders, but this presents in a realm that both fits those things but reaches another level.  

Anyone, with any tips, with any know how who could give me just a little help would be my saving grace.

Thanks for your time.  Mary and my daughter Anna

[amom2]

oh one more symptom....she walks and moves very slow...very slow.  If the world lived in slow motion she would fit right in.

[amom2]

I haven't received any feedback which leads me to think no one has heard of this.  This is my daughter.  She is 6 and is walks like an old lady.  The doctors can only test her for things they know of, each time they tell me "it isn't this or that" which is good news to most people, that just means we need to keep testing.  Process of elimation.  

This said, again, this is my 6 yr old daughter, my only daughter.  She is very, very smart, she is very, very beautiful and talented.  If she gets to live on in this world she will cure cancers and write syphonies.  

I need help to get her help and keep her alive.  Slowly she is loosing her ability to walk and talk.  When she is sick, she can't move or walk, when she is well she fatigues.

PLEASE, please, please somebody give me a clue.

FACTS:  
Poor speech; slurred, hesitant, disograngized at times, some drooling

Poor balance; ataxia, awkward  gait, legs cross and feet turn in, if she tries to keep up, she will have a wide gait and take short steps.  She was dx w/hypotonia in the lower extremities.  She can not jump, skip, hop, or climb well.  This is getting harder too.  She is having a harder time now than when she was younger.....than a whole 6.

Worsening asmah.  On albuterol nebulizer, inhaler, pulmocort.  Has been on steriod, pregezone, not sure of the spelling, and was on that 3 times in the last 4 months.  

Fine motor skills are diminishing.  When she cuts, her hands shake, when she eats her cereal her hands tighten up and shake.  It is hard for her to get the spoon into her mouth and she conintrates to do this and it is work for her now.

Dx with pet mal seizures.  Left occipital lobe region.

2 weeks old started replacement hormone levoxyl for absent thyroid.  Has been continued on replacement and med adjustments since.

That is the jest of it.  There is a pattern as a mom that I see but impossible for me to explain in any terms that would make any sense.

I have read, re read, searched, researched, for her.  It is similiar to other ataxia things, but also to autism (which was what they thought she had when she was younger)  The CP is evident.  

IF anyone has read this far know this, this is killing me watching my daughter deteiorate.  I have 2 other kids who are healthy and I am a single mom, the dad split a year ago because he didn't want the responsibity of 'family'.

I am living in a nightmare and trying to turn it into a dream.  My little girl is my little light in a dark world.  If I don't help doctors find out what this then I will loose her in the worst way.  Nothing is worse than watching your child slowly, and I mean slowly die.  It is the torture for her, and me.  

She fell bad yesterday, it is hard to explain, but God, willing, minds will unite and cure my girl.