Need Neuro help!

[Imluznit4]

My niece is 7yrs. old.  She has been diagnosed with ESES (Electrical Status Epilepticus Sleep Epilepsy) 3 yrs ago.  She is now almost 3-4 years in developmental delay.  She has no balance, her hands shake constantly she can't look up when she walks and it is hard to understand what she is saying at times.  Her father has late stages Huntington's Disease.  Although the docs tell us it is not HD, she walks just like him.  She was normally developing until about 4 years ago.  She has had some cluster seizures duing the day but mainly all her sleep studies show her sleep contains about 80% seizures.  She has a hearty appetite but is only 33 lbs.  her bones are sticking out.  Her hair started falling out from the depakote so the changed her meds again.  Can this all be related to the epilepsy?  Can all this be a food allergy also or worse, can it be Huntington's disease?  Help, we don't know what other kind of doctor to take her too.  We are lost.

[Idab]

Where to start.  Huntington’s disease is such an insipid disease as it has no purpose to its end.  I have watched as my sister-in-law has been consumed by this dreadful disease.  She was diagnosed at the age of 28.  She inherited the disease from her father, who passed away at the age of 48.  She is in the final stages and it has been heartbreaking for her husband (thank goodness there are no children).  She is now 42 and although her mind is still with us, there is not much left of her being.    She always feels indebted to me when she sees me as I helped her through a choking episode when everyone around had lost hope (I am amazed that she still remembers this!).  I am very sorry for what you are going through right now.  Please search the net as there is valuable information on this disease that can help you, if ever the need arises, to cope with its stages.

Here is an extract, which, unfortunately does not rule out the disease in young children.  Therefore you need to, on behalf of your niece, pursue with all doctors to help her through whatever is happening to her.  We can only hope and pray that it is just a form of Epilepsy and she will grow out of it.  Take care.

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“To determine whether initial symptoms are evident, a physical and/or psychological examination is required. The uncontrollable movements are often the symptoms which cause initial alarm and lead to diagnosis; however, the disease may begin with cognitive or emotional symptoms, which are not always recognized. Every child of a person with HD has a fifty percent chance of inheriting the faulty copy of the gene and therefore the disease.  Huntington's disease's most obvious symptoms are abnormal body movements and a lack of coordination, but it also affects a number of mental abilities and some aspects of personality. These physical symptoms commonly become noticeable in a person's forties.  If the age of onset is below 20 years then it is known as Juvenile HD. There is currently no cure, but the symptoms are managed with medication and appropriate care.
Nutrition is an important part of treatment; most HD sufferers need two to three times the calories than the average person to maintain body weight.  To aid swallowing, thickener can be added to drinks. The option of using a stomach PEG is available when eating becomes too hazardous or uncomfortable, this will reduce the chances of pneumonia due to aspiration of food and increase the amount of nutrients and calories that can be ingested.
Speech therapy can help by improving speech and swallowing methods. This advice should be sought early on, as the ability to learn is reduced as the disease progresses.  Juvenile HD has an age of onset anywhere between infancy and 20 years of age. The symptoms of juvenile HD are different from those of adult-onset HD in that they generally progress faster and are more likely to exhibit rigidity and bradykinesia (very slow movement) instead of chorea."

[Imluznit4]

Thank you for your response.  I am so afraid that it is Juvenile Huntingtons because of the symptoms.  My sister is afraid to face that fact.  I told her as much as it hurts her to face she is hurting Olivia more by not having hee treated.
We watch her husband go downhill every day, he can barely walk and barely talk anymore.  He tries hard.  But now to add to it, his brother and sister were just diagnosed.  His mom died at 42.  And the story goes on... I appreciate all your comments.  It helps to know there are other ppl out there who suffer from this debilitating disease.  

[Mel in OK]

My comment is not informational.  I just wanted to tell you I have a friend who was diagnosed with Huntington's Disease around age 25.  I have watched her deteriorate over the past few years.  I will send a prayer up for you.  God Bless.

[Imluznit4]

Thank you! We can use all the prayers we can get for Olivia, her father and her aunt and uncle! God Bless!

[michishair]

I had Sydenham's Chorea as a child. They thought I had Huntington Disease. The symptom are the same with both. They tried everything with me and the only thing that worked and saved my life, was steroids.  

I know that Huntington's is hereditary. My prayers are for you and your family. I went through hell. I did not think that I was going to live. Both, are very rare diseases and soooo much same.

I know that I got mine from Strep as a kid, then rhumatic fever, then the Chorea came. They need to have these 2 disease right next to each other because they are so similiar.