Hope for Samantha

  • Description
  • FAQ
  • Comments
  • Supporters

Samantha was born on January 5th, 2014. A beautiful little girl with a full head of dark hair. Samantha failed her newborn hearing test and soon it was confirmed that she had bilateral profound hearing loss. While we were coming to terms with this diagnosis and preparing for cochlear implant surgery, we started to notice Samantha wasn't meeting typical milestones. We met with geneticists and went through necessary testing. On May 10th, 2016 we received our diagnosis that explains her delays, her reason for hearing loss remains a mystery.

Samantha has a mutation on her MECP2 gene located on the X-chromosome. This mutation leads to a severe disorder called Rett syndrome, which is predominantly found in girls. It is a random, fluke mutation that occurred in Samantha, not something passed down from us. Most girls with Rett suffer a regression period in which they lose developed skills.

Despite Rett Syndrome, Samantha has continued to make slow progress. She can sit when placed, and can pull to a sit with a helping hand. She has never crawled but learned how to bum scoot very well. She is taking steps with assistance. She can self-feed using her hands and can use a sippy cup with handles. It is evident she is learning and she is social and has a sense of humor. She is very aware...she is a little girl trapped in a body that she cannot make work. She is making progress, but girls may regress up to 4 years old, so we aren't out of the woods yet. I pray she doesn't lose the skills we have worked so hard to obtain.

There is hope in research on Rett Syndrome. Gene therapy, protein replacement, and other research approaches offer a potential cure! And drug trials are seeking symptom relief and increased function. Rett has shown to be curable in mice, so I strongly feel that we will see a cure in Samantha's lifetime, within her childhood for that matter. One thing will never change despite what Rett may have robbed from her. She is our sweet, smiley, joyful and happy Samantha who is loved by all who meet her.


What is Rett Syndrome?

Rett Syndrome is serious lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed almost exclusively in girls, symptoms typically appear in toddlerhood. Many children with Rett are unable to speak, walk or use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common.

Despite the debilitating nature of the disorder our girls are so much more than a laundry list of symptoms. Their beauty and their strength inspire and motivate us.

Rett Syndrome stands apart from other neurological disorders due to the dramatic reversibility of symptoms in animal models. Our confidence that Rett Syndrome is curable guides our every decision.

Learn more about Rett here.

Who is RSRT?

The Rett Syndrome Research Trust (RSRT) was launched in 2008 with a singular goal: to drive the development of treatments and cures for Rett Syndrome and related MECP2 disorders. As one of the few neurological disorders to demonstrate dramatic symptom reversal in the lab, Rett Syndrome has captured the attention of the world’s premiere university and pharmaceutical industry scientists. RSRT is operating at the nexus of this activity, leading and advancing the research agenda.

By funding the most Rett research worldwide, $35 million since 2008, we strive to put ourselves out of business as soon as possible.

Learn more about RSRT here.

Supporters (14)

  1. David Anthony 
    7 months ago
    $500
  2. Norah Woodrow 
    9 months ago
    $100
  3. Brian & Elizabeth Walsh 
    9 months ago
    $100
  4. Gail & Tom Lynch 
    9 months ago
    $50
  5. Matt and Melissa Pope 
    9 months ago
    $25
  6. Katie Hoskins 
    9 months ago
    $50
  7. Kevin Farrell 
    9 months ago
    $50
  8. Kevin Farrell 
    9 months ago
    $50
  9. Paula Kelly 
    9 months ago
    $50
  10. Adrienne Day 
    9 months ago
    $50
  11. Adrianna Smallwood 
    9 months ago
    $25
  12. Kelly Kean 
    9 months ago
    $25
  13. Tara Dumaresque Reid 
    9 months ago
    $20
  14. Erica McParlan 
    9 months ago
    $50

This is a unique website which will require a more modern browser to work!

Please upgrade today!