Everything For Emma

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We could think of no better way to celebrate Emma's 5th birthday than to help raise funds for Rett Syndrome research. We are asking for help with raising funds, as research into treatments and a cure is driven almost solely by families affected by this disorder.

Emma was born on a Sunday morning and she was absolutely perfect. Big chubby cheeks, sparkling blue eyes, and strawberry blonde hair. She seemed like a typical baby, always smiling and just a regular infant. At 4 months she was diagnosed with torticollis which is not uncommon for infants, it is just tightness in the neck muscles. When Emma turned six months old her teacher had concerns because she wasn't reacting to certain sounds. This lead to hearing tests which came back with no concerns. But as she aged other things seemed off. She started missing milestones one by one. She was delayed sitting independently, then delayed crawling, then walking. One test after another resulted in no indication for her delays. We tried to make some sense of our gorgeous little girl not meeting any of her milestones and we couldn't. Then came the why her, what did this little girl do to deserve this?

Each day seemed harder and harder to not have a diagnosis. We visited doctors at Saint Christopher's, DuPont and CHOP with no further clues to her condition. We finally visited a genetic neurologist at CHOP who did a broad genetic test for possible causes of her delays. About 2 months later we got the results we feared. Emma has a mutation in her MECP2 gene and was diagnosed with Atypical Rett Syndrome. Like many disorders there is a broad spectrum of how the disorder affects children. Emma is atypical because she never really developed normally and didn’t experience a period of significant regression. She is actually lucky in that she is progressing, slowly, but progressing. Most girls battling the disorder are not so fortunate and do the complete opposite.

With four years of therapies which currently include PT three times a week, OT twice a week, speech twice a week, and a special instructor once a week for about 4 years at almost 5 Emma is able to walk and is trying her hardest to run, she can now self-feed medium sized items, and she is waving hi/goodbye. With all the therapies in the world she will never catch up, she may never talk, she may never know what it's like to ride a bike, or run through a sprinkler. But with all that, we hold on to the fact that she is a happy little girl and we hope that one day science will bring a treatment or a cure.

Please consider donating to help Emma and the many other girls and women living with this devastating disorder. No amount is too small! We appreciate your time and consideration!


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 (8)

  1. Anita George 
    9 months ago
    $30
  2. Ryann Kahn 
    9 months ago
    $50
  3. Eric West 
    9 months ago
    $50
  4. Sean Kirby 
    9 months ago
    $100
  5. Karen Mckinney 
    10 months ago
    $100
  6. Kristen Staso 
    10 months ago
    $25
  7. Alissa Landi 
    10 months ago
    $25
  8. Jennifer Canning 
    10 months ago
    $25

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