NEED HELP!!! PLEASE, ANYONE!!!

[SelmaP]

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.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.

[Dr Rajgopal]

Hello Selma ,
My heart goes out to you on hearing about the suffering of the little girl. The condition seems to be Epilepsy since all the symptoms suggest of it but the cause is not being diagnosed . It is a very unfortunate but true fact that 15% of the cases have no known or definite cause . It is termed as Idiopathic .
But there are some aspects that could be explored in the hope of a diagnosis . You have mentioned that her muscles twitch only when she is awake and the twitching stops when she is asleep . Cortisol hormone is released during sleep .It is a known fact that deficieny of cortisol leads to weakness , fatigue , weight loss and muscle problems . It could mean that she has cortisol deficiency since when a small amount is released , the contractions stop . Please go for a full body scan to rule out dysfunction of endocrine glands .Please consult an endocrinologist .
Seizures are sustained by an imbalance of excess excitation and reduced inhibition. Glutamate is the most common excitatory neurotransmitter and Gamma-aminobutyric acid (GABA) is the most common inhibitory neurotransmitter. Failure of inhibitory processes is increasingly thought to be the major mechanism leading to status epilepticus.
Another factor for consideration is an underlying cardiac pathology . Have you consulted a cardiologist ? Please do , because sometimes the seizures have a cardiovascular cause .

Sometimes X rays of the skull help in diagnosis . There could be some bony abnormalities leading to the condition .
You have mentioned that an MRI was done .  Was the MRI plain or with contrast ? Please go for an MRI of brain and spine with contrast .
I sincerely hope that you find some diagnosis on going for these additional investigations . If still there is no evident cause , please consult a neurologist to start the symptomatic treatment to prevent the deterioration of condition Antiseizure medicines can control the frequency and severity of the seizures .

One thing that I would strongly recommend is a  an exceptionally nutritious diet . A diet rich in multiminerals , multivitamins , protein , calcium , Omega 3 supplements may work wonders because sometimes an unknown deficiency causes major problems . Please use natural supplements only .

I wish and pray that your daughter gets well soon !!! Take care and regards !   Do keep me posted because I'll be waiting to hear about your daughters progress .

[margypops]

I agree with Dr Rajgopal when he tells you that a supplement rich diet will help,I understand how worrying this is for you not having an answer to what is wrong with your child, other than seeking other opinions possibly letting some time go by to see if any positive progression is made.Reread the Doctors information, I thought it was very helpful and as you are posting these on differant forums someone who has a child with similar may have some answers. Good Luck let us know how she is doing.

[SelmaP]

THANK YOU soo much for your response. I did copy and paste your answer to one of many Ana's child neurologist and here is what he wrote to me back:



********Dear Selma,

We treated Ana with high dose steroids and it did not make any difference. Furthermore we checked the urine for catecholamines, this would rule out a disorder of cortisol oversecretion. We did not check serum cortisol levels, but if this were the problem she should have responded to the high dose steroids, so I think it’s pretty unlikely. We have not consulted cardiology as I have no evidence that Ana has a cardiologic abnormality and I am not clear how such an abnormality would present with her symptoms. Ana had two MRIs of the brain including one that was with and without contrast. She also had MRI of the entire spine and the face and neck. In terms of the endocrinology referral I am not sure what we would be looking for. We have tested thyroid function, and we tested urine catecholamines. I have no reason to suspect an endocrine d/o at this time. However, if you, or anyone else, has a specific disorder in mind or a good reason to refer to endocrinology I would be glad to do so.

I hope this help***********

[SelmaP]

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

[SelmaP]

Also, thank you too for responding on my post!

[SelmaP]

Our little girl is 28 months old.....everything started when she was 21 months old. We have 17 years old boy and 5,5 years old boy and everyone is in good health. Our little girl also was in good health prior all of this happening.