PLEASE, TRY TO HELP!!!!!!!

[ANASMOM]

YOU MIGHT SAVE A LIFE OF THIS LITTLE GIRL!
PLEASE, PLEASE!!!!


We are desperate! We have three children, boys of 16 and 5 years and the little girl, who is 30 months old. Ana was born 14 March 2007, in Dodge City, KS, USA.
Born as a healthy baby, was never sick, developed normally.
All of the overturned "upside down" in her, and our lives, in mid-December last year. Began to vomit, secrete a lot of saliva during sleep, had a dense nasal secretion. All of this lasted 10 days. Doctor said it will pass, that is a virus ...... Then it gradually started to show signs of fatigue and "losing" tone muscle. When I contacted the doctor, he said again that it does not need to bring her in, if there is no temperature, that will pass.
One morning when she woke up, I noticed a light "twiches"of her tip of tongue and 4 toes on her right foot, that fasculateted constantly, except when she goes to sleep, then would disappeared. Now I schedule an examination by doctors. After the review, said that he did not know what could be scheduled with an overview of child neurology. The following day has been given "an attack", we meant that some allergic reactions, but it proved, that the doctors said they had "great convulsion" of 4 hours duration (status epilepticus). was urgently transferred by plane to a larger center, and after 9 days the same, they could not find nothing "wrong "..... its tremors they began to multiply on the lips and fingers right arm and right leg towards the knee. From January to this date(october) she was 7 times in the hospital( Wesley hospital in Whichita, Childerns Mercy, Kansas City,MO, Washington University, St. Louis, MO........... they did all the genetic, toxicological, neurological, metabolic, infectious tests ... but nothing find wrong again..She had her MRI, LP, CT, MIBG, EEG, muscle and skin biopsy..and nothing wrong. In April it happened again, "big attack", which again ended 4 hours convulsions (status epilepticus), and again the plane moved to another larger center, and again are still there doing a search, but nothing was found. From April, she can't stand,, do not walk, do not sit, because the last convulsion was drained her completly out. She has her appetite, eat well, but she is not gaining any weight ............. doctors say that she is in a very serious situation and that may not survive.We are, of course desperate ........... we are not satisfied, because we have no diagnosis for it, and thus there is no adequate treatment. U.S. medicine is failed, but it is not clear to me that in addition to such a precise technology that was used to test our daughter, they couldn't find nothing.(she is not an alien, it shouldn't be that hard to find what is wrong). They kept saying us that, acording to her tests results, she is perfectly healthy 2,5 yo girl and she is NOT doing good). We left to please the people, like you to help us to see, to try to say to us, and give any further information about the health of our little girl. Please try to help !!!!!!!!
I believe that somewhere, someone there HAS to be who has heard or seen something similar, and that can help.
We thank you for any respond!


I forgot to say that the flicker( tremor, fasculation) of her tongue, lips, fingers on hand, right foot and left hand are constant, except when she is sleeping, everything disappears. Moment when she is awaking, flickering starting again and it is so constantly in the last 9 month.
THANKS A LOT FOR YOUR PRECIOUS TIME AND YOUR RESPONSE!!!


Selma

[MG (Admin)]

they did all the genetic, toxicological, neurological, metabolic, infectious tests ... but nothing find wrong again.

I am sure they did not do all of them...
Did they check:-
amino acid / organic acid levels?
lactic acid levels / ammonia levels?
mitochondrial battery?

They kept saying us that, acording to her tests results, she is perfectly healthy 2,5 yo girl .

What do you mean...is her neurological exam normal?
Please forward the transcript of her most recent neuro exam.

[ANASMOM]

THANK YOU SOOOO MUCH FOR YOUR RESPONSE!!
you said:I am sure they did not do all of them...
Did they check:-
amino acid / organic acid levels?
lactic acid levels / ammonia levels?
mitochondrial battery?*********


I just got an email back from doc. asking about that

*****Dear Selma,

Nice to hear from you. I hope Ana is doing well. I just checked. Urine organic acids and plasma amino acids were done. Urine organic acids were notable for isolated marked elevation of adipic acid, likely secondary to dietary intake, otherwise unremarkable. Plasma amino acids were notable for elevated arginine (140, normal is 12-133), asparagine (151, normal 10-133), taurine (170, normal 15-143), phenylalanine (102, normal 31-75). These changes are considered non-specific. Mitochondrial DNA was not done. However, CSF serum lactate was unremarkable making this possibility a little less likely. Nevertheless, I would be glad to order mitochondrial enzyme sequencing. When are you coming back to see me. I know it is a long drive, but I would like to have a chance to reevaluate Ana, send the mitochondrial DNA etc. I would also like to repeat an MRI to see if any changes are evident.*****

I will have to scan her medical records and post it here, at least her CT, MRI, genetics and blood work that has been done.