On the Road for a Rett's Cure

(***I started this page when my daughter was diagnosed with Autism, and I did not know she had Rett Syndrome. We found out last week, and it is currently mid-May, 2015. This page still needs more editing.***)

We are looking to raise funds for our travel to Baltimore June 15th, 2015 for three months to the Kennedy Krieger Insistute in conjunction with the John Hopkins University where my daughter will be getting cared for by a neurologist who specializes in Rett Syndrome for an experimental drug study using dextromethophan. 

Seven is a lucky number, so I hope to raise several thousand towards airline tickets, travel, and costs of medical supplies for Amaya (she may need arm braces to learn to feed herself, etc.) The intention is to get her the absolute best care possible.

From there, Amaya may be possibly (hopefully) enrolling in future studies with other universities and other treatments. I am hoping to have her partake in a study looking at increasing IGF-1 and BDNF in her brain to help the little budding, unpruned, beautiful plastic neurons branch out and allow her (literal) baby brain to grow. 

About Amaya (written by her Mama):

Hi, My name is Amaya. I am 4 years old. I can't speak for myself, but I can feel and I can think. I don't have very good use of my arms, hands and legs; but I love music, the ocean and giving hugs and kisses! I am usually smiling and very happy, despite my challenges. I am a very strong and brave little girl! Please don't give up on me. I am really smart, and I can learn.

I have Rett Syndrome, a condition which only effects girls (usually)! It means I have a genetic condition that makes my body unable to produce certain protiens, correctly, I need for brain development, and for my heart, liver, digestive system, and lungs to function properly. Our life expectancies are still high, however, we live unable to ever speak (other than perhaps utter a few words), sometimes lose our ability to walk (almost half of all girls with Rett Syndrome are in a wheel chair), are unable to use our hands functionally, and unable to participate with most of the world's activities and what we do in life everyday that we don't even think about. Yet, all the neurons are still there, inside the brain, only one single neuclotide (part of a gene) away from being unlocked. Rett Syndrome is like a prison your body is stuck in.

When I was a baby, I started out as a typically developing infant. I could point at a book at 8 months old and say book!  (I cannot do this at all anymore, sadly, it's almost as though I never was able to do this at all. The video below makes mommy wonder if someone swapped her baby with another one because it's hard to think that used to be me.)

*proof!* 
https://www.facebook.com/babyopihi/videos/224731737579067/?l=8053530360380637923

I could pick up my cherrios one by one and feed myself. I made great eye contact and babbled to my mommy all the time. It was just Mommy and me. I don't have a dad, but I have a mom who has always been there for me, even if we were alone. We started rather humble, in a little cottege on the country side of the Big Island of Hawai`i. I slowly lost my ability to speak as the regression phase of Rett Syndrome began when I was one year old. I lost my fine motor skills. I cannot feed myself cheerios anymore, nor have been able to learn new things with my hands that I can do consistently, or rather, when my brain tells my hands to (sometimes, my body just doesn't listen).


My mommy was devastated because she enrolled me in Early Intervention Services, and she thought I was going to be okay. More and more, I lost my abilities to focus, see straight (when I was 3, my eyes started to cross and the doctors don't know why), walk up stairs, play with other children, make eye contact, speak, sign (I was getting good at this in Early Intervention, and now I can't use my hands very well), play with crayons or blocks or hold my own spoon and fork. I slowly became severely disabled.

I feel things, taste things, smell things. hear sounds and see things differently than you. Sometimes it's all just too much for me... I cope by biting myself and scratching my arms and legs. Everyone around me is sad that I do that. No one can figure out why, and I see nearly 10 different doctors, some on the main island, all working on bits of the puzzle. Once it starts, it's so hard for me to calm myself down. I have to wear special equipment to help prevent damage. If I could just express myself, I could tell my Mommy what's wrong before I get upset!

Without some type of medical intervention, I may never be able to talk to my Mommy and tell her about myself, like what my favorite color is, what my favorite animal is, where my favorite places to go are....  I know she always wanted to teach me how to draw, and teach me my letters and numbers, and play music with me. I know she wanted to teach me to swim, and had made so many plans for me when I was a baby. I am a very smart girl, I just slowly lost my ability to express it in ways you can understand.

It is very possible with the new treatments available, I can be rehabilitated! Rett Syndrome has even been reversed in mice!

Please don't give up on me.

Help support the goal to get the best care possible for Amaya! She is a 4 year old girl from Hawaii with "severe" autism (Rett Syndrome) who is very smart, but she needs help so she can prove it to the world.

The future of this medicine is happening right now!

Donations

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  • Christine Radice 
    • $25 
    • 59 mos
  • Lacey Astra 
    • $33 
    • 59 mos
  • Anonymous 
    • $5 
    • 72 mos
  • Tamara Anderson 
    • $77 
    • 72 mos
  • Nana Herrin 
    • $500 
    • 72 mos
See all

Organizer

Maiden Ashes 
Organizer
Kahului, HI
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