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Ashley's story

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View Ashley's video (WYOU)

     
Like any average 15 year old, playing the Wii® and shopping are two things Ashley loves to do.  But unlike any average 15 year old, Ashley is dealing with a life-threatening disorder, Emery-Dreifuss Muscular Dystrophy. 

Ashley was formally diagnosed with the rare disorder, which deteriorates her muscles, at age 7 and has dealt with the multitude of challenges it presents ever since.  Today, it’s difficult to find a single department at Geisinger’s Janet Weis Children’s Hospital that hasn’t been involved in her care.   

Some challenges have been more difficult to tackle than others.  A clotting problem and recently-diagnosed heart problem threaten her life.  She takes aspirin on a day-to-day basis to battle the clotting issue, but that puts wear on her liver.  Her elbow and knee movement is limited, and she needed surgery on her feet in 2008 – a process that required casts for six weeks and the support of leg braces for more than two years.  Eventually, she will need a rod surgically placed into her back to support her spine. 

In addition to all of this, Ashley must use a breathing machine at night to combat sleep apnea, and she takes medication to prevent Grand Mal seizures, which were caught during a sleep study.

"I wish I could do what other kids can do like a normal person, but I try to be as normal as I can be," Ashley says.

Unfortunately, this form of Muscular Dystrophy is nothing new to Ashley’s family.  At age 2, Ashley lost her father to the disorder.  Her paternal aunt, who also shared the diagnosis, passed away as well.

"I just saw what my dad and my aunt went through, and I learned that Grandma told me that I have this disease but it doesn't have me. So I live by that," Ashley says.

Now Ashley’s grandparents, Donna and Mark, have become an amazing support group for this teen. With them by her side, and the Janet Weis Children’s Hospital specialists as part of her team, Ashley has developed the drive and determination to live life to its fullest.  The fact that she has been chosen as the 2010 Pennsylvania Ambassador for the Muscular Dystrophy Association is a great example of this.

“She is not going to be stopped by her disorder.  She wants to get on with her life.  It is part of her life.  She doesn’t ignore it, but it is not the focus of her day,” explains Henry C. Maguire, MD, the director of pediatric neurology, who also treated Ashley’s father throughout his lifelong battle with this disease.

“She has taught all of us here as staff how to be happy despite any circumstances,” adds her pediatrician, Chaklader Jamal, MD. “She is a hope in all darkness.  She is involved in all activities despite her prognosis.  She gives hope to other children with the same diagnosis.”

Children’s Miracle Network at Geisinger provided funds for medical equipment to help doctors in all specialty areas treat children such as Ashley – as well as for programs such as Pediatric Rehabilitation.

Meet Ashley: 2010 Miracle Kid

Ashley fights a daily battle with Emery-Dreifuss Muscular Dystrophy - but that doesn't stop her from living life to its fullest.