4Kaitlyn 2019

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Kaitlyn is our beautiful 8-year-old daughter. She is a laid back, happy little girl even though life can get pretty rough for her.

On her first birthday, Kaitlyn was diagnosed with a genetic mutation called MECP2 Duplication Syndrome. In children like Kaitlyn, the body creates too much of a particular protein called MECP2. The disorder is characterized by hypotonia (weak muscles), developmental delay, mental retardation, limited or absent speech, constipation, reflux, ataxia, progressive spasticity (loss of muscle control), stereotyped movements of hands, teeth grinding, recurrent respiratory infections, gastrointestinal issues, epilepsy, and developmental regression. Our children can suffer greatly even with the ordinary common cold and the greatest number of our children don't live to see their 20's.

In 2012, the MECP2 Duplication parents joined together and created the "401 Project" to raise money for research being done through the Rett Syndrome Research Trust (RSRT) aimed at reversing the debilitating symptoms of the disorder.

In 2014 the lab of Dr. Huda Zoghbi at Baylor College of Medicine published findings that suggest MECP2 Duplication Syndrome could be completely reversed at any age and level of function! We want to get to clinical trials!

Watch this informative video!

My family is currently fundraising for a project in the lab of Dr. Huda Zoghbi at Baylor College of Medicine that could provide a life-changing breakthrough by reducing the amount of MECP2 that is produced through the use of Antisense Oligonucleotides or ASOs.

We are writing to you in the hopes that you will help us keep this groundbreaking research going. Every bit helps! We would really appreciate your consideration in making a donation in Kaitlyn’s honor. All donations are tax deductible. Please know that your donation could possibly improve the lives of many children and young adults, and for that, we would be most grateful.

Sincerely,

Dusty and Kim Bartlett


Many thanks for your support -- and don't forget to share this to anyone who you think might want to donate too!


What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.

The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.

The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.

Learn more about it 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 (3)

  1. Ashley White 
    5 months ago
    $20
  2. Johnna Slocum 
    6 months ago
    $15
  3. Anonymous 
    6 months ago
    $5

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