A Cure for Kate

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Today we are celebrating our daughter Kate’s 17th birthday.  She’s excited to be going with her friends bowling.  Sure, there will be some bumpers and some devices to help Kate and her friends get the ball down the alleyway, but what matters is that they are together and having fun!  She’s able to bowl now, but that might not always be the case.

For those of you who know Kate, you’re aware that she has suffered from developmental delays since she was young.  She struggles to speak clearly, her fine motor skills are almost non-existent, and she walks with a limp and struggles with balance.  Still, she faces each morning with a smile on her face and true joy in her heart.

Last year, Kate was diagnosed with Rett Syndrome through genetic analysis.  Rett is a developmental disorder seen almost always with girls.  Symptoms for girls with Rett include scoliosis, seizures, wringing of hands, bowel problems, and an inability to walk and talk. The specific mutation Kate has is rare even for Rett, which may be why she hasn’t suffered from all of the symptoms.

Now is an exciting time in research for Rett Syndrome.  Cell and gene therapies are showing real promise with certain rare genetic diseases.  There are no approved gene therapies in the US, but that’s about to change as there are three products in gene therapy applying for FDA approval in 2017.  These are not for Rett, but for other genetic diseases, but it shows what concerted research and clinical trials can do in less than a decade.   Best of all, these therapies can be limited to one or just a few doses over a lifetime!  It’s truly amazing.  We should know – Dave has been involved in gene therapy for over 20 years and it has really taken hold only over the past 6-7 years.

And now - the first clinical trial for Rett Syndrome using a gene therapy technique appears likely.  The people running the trials and funding the trials clearly have the desire to correct this devastating disease.  It may not work -  that is what the trials are for.  But we’ve never gotten this far and it’s not time to slow down.

So we ask you to support Kate on her birthday and throughout this year. We ask that you make a donation to help Kate retain her ability to walk and talk. Donations will be used for clinical trials that could directly help Kate and the other Rett girls.  We’ve selected support levels named after things that make Kate smile. Thank you from all of us for your continued love, support, and generosity.

Dave & Mary,

Grace, Kate & Claire Backer


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 (9)

  1. Karen & Jeff Parkhill 
    13 hours ago
    250
  2. Sue and Rich Mirman 
    2 days ago
    1,000
  3. Lucile Lynch 
    3 days ago
    250
  4. Diana Miller 
    4 days ago
    100
  5. Uncle Glen Schreitmueller 
    4 days ago
    1,000
  6. Brian Gonzalez 
    4 days ago
    500
  7. Jane Woltman 
    4 days ago
    100
  8. George Backer 
    2 weeks ago
    1,000
  9. David Backer 
    2 weeks ago
    10,000

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