A Cure for Holden & Elliott

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Starting a family was not easy for us. IVF gave us the child we were hoping for, but that joy quickly turned to fear when Holden was born prematurely and had to spend time in intensive care. We noticed developmental delays upon coming home, but believed it was related to his premature birth. It wasn’t until our second son Elliott began missing milestones that we learned both of our boys have an incredibly rare genetic disorder: MECP2 Duplication Syndrome (MDS).

Not only can MDS severely impact intellectual ability, it is often fatal. Although our boys are currently doing well, it is unlikely they will ever talk, dress themselves or live independently. Even worse, MDS is a progressive disease so our boys might lose the skills we’ve worked so hard to gain. The fear is overwhelming. Will our boys continue to be happy? Will they develop seizures? Will they lose the ability to walk? What happens to them when we’re gone?

But there is hope! Dr. Huda Zoghbi, a research scientist at Baylor College of Medicine, has shown that symptoms can be improved and the disease can be reversed in mice. Funding is needed for proof-of-concept studies before clinical trials can begin with the ultimate goal of finding a treatment and cure.

The MECP2 community needs $1.3M to fund the first two projects. (More about those projects can be found here).

Join our community. Help us develop a cure for our boys and others who are struggling with this disorder. 100% of your contribution will go to this effort.

With Love and Thanks,

Stephen, Andrea, Holden & Elliott

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, meaning MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

Supporters (3)

  1. Anonymous 
    3 hours ago
  2. Alex Katz 
    9 hours ago
  3. Anonymous 
    12 hours ago

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