Persistently looking for the place where the forum can be to write about something that interested me, whether anybody has any kind of response. We are desperate! We have three children, boys of 16 and 5 years and the little girl, who is 28 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(july) she was 6 times in the hospital ........... they did all the genetic, toxicological, neurological, metabolic, infectious tests ... but nothing find wrong again..
It sounds like you and your family are undergoing a tremendous ordeal and we hope you are getting the emotional support you need. It can be very difficult to find a diagnosis when the symptoms can be caused by different genetic and non-genetic diseases.
I know you said genetic tests were normal, but there may be specialized genetic tests and/or clinical tests available based on an evaluation by a medical geneticist. We recommend that you take your daughter to see a medical geneticist, who can review the testing already performed, perform a physical evaluation, as well as take a family history. We recommend that you keep copies of all your daughter's tests and exams and organize them. This will help any new doctors know what's already been done so as not to repeat any testing. We also recommend that you follow up with any specialist referrals and recommendations that have been made by the doctors already.
You can find a medical geneticist at the American College of Medical Genetics website where they have a "find a geneticist" search. We wish you, your daughter, and your family the best.
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. 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 6 month
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