All in for Austin

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Austin was born on February 15, 2013. He was our first child. He was big, happy, and such an easy baby. Until a lot of little things started happening. Austin began to have some minor health issues, things like constipation and reflux. He wore a helmet and had low muscle tone. As he got older he wasn’t quite meeting milestones, but many kept telling us that he was just on his own time. Austin’s one year appointment was difficult. Austin wasn’t meeting any of the milestones. He wasn’t crawling, babbling or waving. We needed help so we set up AMP Interns with specialists and began working with Early Intervention. The specialists were concerned. All of these little things separately could be nothing but together, there must be something going on. Neurology decided to send out some genetic testing. Now we had to wait.

In April of 2014, we welcomed a second child. A healthy little girl. Just 1 week later our world would crumble. Austin was rushed to the ER with respiratory failure. He spent 2 weeks in the ICU fighting for his life. While there, genetic testing came back. Imagine this: your child is on a breathing tube fighting for his life and you get pulled into a small conference room with the genetic team and physicians, here they tell you your child has a rare genetic condition. He many never walk or talk. Respiratory illnesses like the one he is fighting currently, will be recurrent and possibly deadly. There is not much information they can share but at this time known life expectancy is 25 years old with only half of the boys living past 15. To say we were devastated is an understatement. Together we cried enough tears to fill the Nile. We were sent home with a feeding tube and a lot of new specialists that would become a regular part of Austin’s care.

Fast forward a few year and here we are today. We have adjusted to a different kind of normal. We are grateful for all the little things Austin is doing, including walking and communicating through gestures a few modified signs and an iPad. He is charming and social. He loves music and trains. He is the best big brother to his two little sisters. He is loved by so many and spending time with him can make anyone smile. He is still our little boy and we love him more than words.

But we are also fearful. When will the next big illness hit? How will he recover? Will seizures start? Will he regress? Will he lose all of the skills he works so very hard to gain?

What else can we do as parents but to fight for a cure before anything happens. We need to educate and raise funds to help Austin and all of the other MECP2 warriors and the families impacted by this syndrome. We hold hope in science. We believe in the research and know that with your support, we can raise the funds to support the research and we will find a cure!

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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