Tag Archives: genetic disorders

Miracle for Megan

I first met Megan Miceli when she was 6 months old. She was a beautiful little girl with blond hair and blue eyes and an infectious smile that reached from ear to ear. But when her parents noticed that Megan wasn’t hitting milestones at the rate her siblings had, they grew concerned and brought her to Kennedy Krieger.

With weekly physical therapy sessions and her mother diligently working with Megan at home, she slowly began making strides in her motor skills. In the meantime, an extensive medical workup revealed she had hypotonia and a gene microdeletion, which was the root of her medical problems. The gene deletion is so rare that there have only been six reported cases since 2009. In addition she was also recently diagnosed with episodic hemiplegia, another disorder that affects 1 in 1 million people. Without warning, Megan can experience an attack of paralysis on the left side of her body multiple times per week, each lasting between 5 and 20 minutes.

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25 Years of Dedication

In my 21 years with the Down Syndrome Clinic at Kennedy Krieger, I’ve been privileged to meet many children with Down syndrome and watch them grow up to lead fulfilling and independent lives. I feel lucky to be a part of such an inspiring community of families.

When I was first appointed as director of the Down Syndrome Clinic, I was a little surprised when I was told quite frankly that I must attend the clinic’s annual event at the airport, a race organized by Wayne Malone, whose son has Down syndrome. Such a mandate seemed curious to me, but when Pat Winders—a former employee who was one of our clinic’s biggest advocates in the early days–tells you to be somewhere for the clinic, you show up. I didn’t know all of the details then, but what I was about to take part in for the next 21 years continues to inspire me in my work today. I would like to take a moment to share with you the story of Wayne Malone, a man who singlehandedly formed a community of people and resources for those affected by Down syndrome. Continue reading

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