Zoe Episode 8-28-09

Zoe's episodes continue to haunt her, now coming more often than they ever have. The only atypical thing about the one seen here is that it's slightly shorter than most, and instead of burping or throwing up at the end, she cries. Still, this is essentially what we see... about 15 times a day now.

Obviously this goes beyond standard Sandifer's Syndrome, GERD, etc. We still don't have a diagnosis for what's really wrong, outside of knowing that she has acid reflux and she's is severely developmentally delayed. These are not seizures. She has had countless EEGs that prove there is not a root cause in her brain. They are almost definitely food or digestion triggered.

(Yes, we've seen every type of doctor. We have 2 Gastros, an Allergist, Neurologists, Geneticists, a panel of Autism experts - they say it's not autism - and even a Nutritionist. No one's been able to help her at all in over a year now. Not even a little.)

Category:

People & Blogs

Tags:

• Reflux
• GERD
• Sandifers
• Developmental
• Delay
• Convulsions
• Acid
• Seizures

[emilyexorcismzombie]

she must have epilepsy, as much as the doctors are saying, that deffinatly looked like an epileptic seizure to me, and if they occur all the time without a cause, she deffs has it. Poor Zoe :(

[dirtyelectronic]

@emilyexorcismzombie They are. In December '10 we finally found a diagnosis for her - she has a mutation in a gene called CDKL5. This is extremely extremely rare. The condition carries symptoms similar to that of Rett Syndrome (often called atypical Rett Syndrome). She doesn't have seizures this bad anymore, thanks to a special diet called the Ketogenic Diet. (Anti-seizure meds did not work.) Her development is still extremely stunted. She can sit up, but is still learning to crawl at age 3.5.

[30lenni]

Hi, jusy wanted to know how long she was on the Ketogenic diet for before you noticed an Improvement? My daughter has had seizures since she was 6 days old, still undiagnosed and she aalso has bad reflux. We have been on diet for a month now as she also didn't respond to AED's. Just feel like nothing is going to work. Think she was tested for the CDKL5 and it came back negative.

Thanks

[dirtyelectronic]

@30lenni When we started on the diet, things got worse before they got better. It was not until well into the 2nd month that we started to see improvement. Keys to Keto: Get off all AEDs if you can, get up to 4:1, make sure ketones aren't too high or low, morning or night. If you're not already, get on Ketogenic Diet forum on Yahoo. Super helpful. They know more than doctors do. Finally, Zoe has gastro issues too - had to make special formula, and even now the high fat is still hard to digest.

[domithounikita]

mon bébé fait le smemes crises de convulsions......

[dirtyelectronic]

@domithounikita I'm very sorry to read this. No child should ever suffer like this. Does your baby have a diagnosis?

[emilyexorcismzombie]

@dirtyelectronic Awww! How would a diet effect her seizures though, did it have something to do with her stomach being upset? poor little angel, my prayers go out to you :)

[cosmicity]

@janineaaaaaaa She now does generally live a comfortable life without suffering. While you're correct that the Ketogenic Diet can not correct a genetic mutation, it absolutely does control her seizures. Most of these videos are from 2 years ago. Today, her seizures are infrequent and very small. She generally does not even notice them. Brain surgery is typically not an option for children with her diagnosis, called CDKL5 . But there is hope for her future in current genetic research/trials.

[janineaaaaaaa]

Having watched all of these videos, doesn't seem like she will ever live a comfortable life. Looks like unbearable pain and suffering, no development, and a lifetime (however short it may be) of heartache for her and you, the parents. I can't believe that a diet would make any impact on a genetic mutation. Isn't there surgery where the lobes of the brain are severed to stop the seizures? Doesn't seem humane to keep her in her suffering forever..