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My Special Needs Sister
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Meet Amy, my sister. She suffers from uncontrolled seizures that are causing brain damage and is having significant regression. She has been diagnosed with partial complex seizure which has become worse and spreading from the left side of her brain to the right, with brain damage to the left side due to uncontrolled seizures. She also has A.D.H.D., predominately inattentive type & Anxiety Disorder, A Missing Chromosome, as well as Sleep Apnea.

 

Hey everyone! I first want to thank you for taking the time to read this and hopefully help or give some insight. This is on behalf of my 9 year old sister who has a various amount of medical problems. We are not asking for money, but donations would be very helpful. I will explain further shortly.  

 

The number one thing we are interested in is finding a DOCTOR who is able and/or willing to help. Any information, doctors, contact, etc is what we really need right now.
 

As far as any money goes, my parents are at $70,000 (and growing daily) in debt trying to cover medical expenses, doctors, research tests, counseling, etc. While the number one reason for this post is to hopefully draw enough attention to get information and find a doctor who can help our family, any donations to pay for these bills would mean a lot as well. They do have insurance coverage, but I'm sure as many of you know that only goes so far. Medicaid (state government insurance) denied my sister for coverage because "they make too much". Don't get me started on how the government system is.  

With all that being said, here's the details of what's going on. PLEASE if you can help. Leave a comment, email me, or if you're making a monetary donation, use the paypal button and make a note that it's for my sister and I will give it directly to them. Thank you in advance to everyone who takes the time to respond/help.  

In short My sister's name is Amy. She is 9 years old. Born December 2, 2002. According to Amy's latest evaluation, her seizures are still not under control and the seizure has cause some brain damage.  Bottom line, if we cannot find a doctor that can get the seizures under control Amy's condition will worsen.  Amy's evaluation indicates an actual loss in function as compared to a failure to develop at an expected rate.

 

Amy's cognitive difficulties are related to her seizure disorder (and possibly her chromosomal abnormality).  Additionally, her behavioral and emotional dysregulation is likely due, at least in part, to brain injury related to her  seizure disorder (and possibly her chromosomal abnormality). Although Amy is reportedly experiencing pseudo seizures in addition to genuine seizure activity, the actual seizure activity is obviously causing significant insult to her brain.  


The full information
--UPDATE-- (2/20)

   



We removed the medical evaluation due to security reason as per recommended by the doctors reply to my mom which I quoted below. If you are a doctor, you can leave your information in order to get a faxed copy of the evaluation if needed. Thank you for the understanding.

   

 
I had the opportunity to speak at length with Dr. T*** today.  She made it clear that herself and Dr. Z***** believe that Amy's seizures are the result of her chromosomal abnormality.  Given this information and other insights shared by Dr. T****, I will be making some edits to the summary of Amy's report. Although these edits will not affect her test results or recommendations, I am writing to ask that you not send out Amy's Neuropsychological Evaluation report to other professionals before receiving the edited version.  Also, please be careful when sending out personal health information, especially something so sensitive as a Psychological or Neuropsychological Evaluations via E-mail.  I do not E-mail reports, as I do not believe this is a safe means of sharing such information.
 

  Right now we are in a desperate situation. Medical bills are way over their heads, but as I already stated, they are willing to do what it takes in order to find a cure or some help with the situation. My mom is working herself sick, literally, staying up all hours to try and research in hopes of finding information. Whether it's a doctor or information leading to another test to try out to medicines that can help resolve this medical illness.  

{Amy is missing Chromosome 17p13.3 }

  To read full information in details and medical info, please read up on these links:  

 

 

 

 

If you are a doctor, no matter your location (although we are in New Orleans, LA) please feel free to contact me at This email address is being protected from spambots. You need JavaScript enabled to view it. or leave a comment with your contact information for me to pass along to my mom.

 
Please make a note that the donation is "for Amy" so I can be sure that it gets sent directly to her as this is my own personal Paypal account where I will with draw the money from my Paypal debit card. Please know that ALL donations of any amount are very much appreciated.

   

   

All information and comments are welcome. Thank you again for your support! On behalf of myself and my family.

   

**UPDATES**

--2/24/2012 I wrote up an update with the newest info on my sister. Rather than adding it all on here here's the post: http://www.closetsamples.com/2012/02/update-new-info-on-my-sister-with-brain.html    

--3/22/2012
Here's the latest information:

http://www.closetsamples.com/2012/03/update-newest-info-on-my-sister.html

--6/11/2012
Update on Amy, she is the only KNOWN person with the same chromosomal deletion she has: http://www.closetsamples.com/2012/06/note-update-on-my-sister-amy.html  

--9/27/2012 Update on Amy, she is now attending Children's Hospital in Texas:

http://www.closetsamples.com/2012/09/note-update-on-my-sister.html 

--10/8/2012 I just posted a wish to try and help my mom out with food, money, etc:

http://www.closetsamples.com/2012/10/note-update-on-amy-i-just-made-wish-on.html  

--11/1/2012
Amy finally had a seizure at her appointment in TX Childrens Hospital:

http://www.closetsamples.com/2012/11/note-update-on-amy-she-is-in-tx.html    

--06/24/2014
Amy is hardly eating:

http://closetsamples.com/update-amys-rare-medical-condition/

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