Love and Hope for Luke

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Lucas was born in February of 2016. Already, he has taught us about unconditional love, determination, and the wonderful power of a smile. Luke had been in and out of the hospital since he was born but nobody seemed to understand why. At six months old Doctor Wargowski, a geneticist from The American Family Children’s Hospital, diagnosed Luke with a rare neurological disorder called MECP2 duplication syndrome.

The day we found out the diagnosis was extremely hard for our family. We felt alone and wanted answers but nobody was able to provide them. It was in the following weeks and months that we came to realize we must become the experts on this rare MECP2 Duplication Syndrome and educate his medical providers. Since then we have visited the wonderful Physicians at The Texas Children’s Hospital and Dr. Zoghbi to gain better insight into Luke’s conditions and about the many challenges that lie ahead. We have also had the pleasure to meet other children and their families who share in this challenging journey, which have been a tremendous resource and support to us.

Luke has made up his mind that he is going to fight this disease and we are ready to do whatever it takes to fight alongside of him. Please join us and help Luke beat MECP2 Duplication Syndrome!

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.

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