Selena’s story

selena1Selena Louise was born on September 19, 2006. Everything seemed fine and she scored well on the APGAR test. Within a couple of weeks we noticed she was not turning her head to the right. We went to see her pediatrician who referred us to an orthopedic doctor. The orthopedic doctor diagnosed Selena with torticollis and we began therapy to relieve the tightness in her neck muscles.

During her therapy for the torticollis, we noticed that Selena’s feet were turning into each other. Selena was diagnosed with positional club feet during our first and subsequent visits to Children’s National Medical Center (CNMC). The doctor informed us that Selena’s heel cords or Achilles tendons were too tight and needed to be stretched or released. We chose the stretching first. In mid February 2007, we began a series of weekly casting that lasted for six weeks to help stretch her heels. After the castings were completed, the doctor showed us the lack of range she had and we decided the release would be needed. In early April 2007, Selena’s heel cords were cut and she was placed in casts for another six weeks.

In May 2007, after the casts were removed, we went back to CNMC to see a neurologist. The neurologist told us that Selena had hypotonia. The neurologist wanted to perform additional tests to rule out anything else. The first test he performed was a nerve test which came back normal. The neurologist informed us that Selena could have a form of muscle myopathy or dystrophy and would have to perform a muscle biopsy to confirm which it was. As you all know, our minds were going crazy trying to figure what was going on and how this could happen to our daughter. In June 2007, a muscle biopsy was done and we had to wait 4-6 weeks for the results.

During all this Selena continued to grow and was such a joy to the family and all whose lives she touched. We had a lot of people praying for our Selena. There are many things that go through your mind during a time like this. We were trying to figure out were this came from since no one knew of any genetic muscle disease in either of our families.

In July 2007, the neurologist called to let us know the results had arrived and wanted to see us the next day. He informed us that Selena has Congenital Muscular Dystrophy 1A (merosin deficient). Our fears had been realized and this explained her earlier issues with torticollis and feet. Now that we had an answer to our question about what was wrong with our daughter, we wanted to know how. So CNMC took some blood to perform further genetic testing. When we found out which genes were not working, we had ourselves tested to see which parent carried which bad gene.

Since the diagnosis, Selena has had physical & hydro therapy several times a week. We have built a relationship with our MDA rep and gotten to know a lot more about muscular dystrophy then we expected. We had an opportunity to be interviewed on the local MDA telethon on Labor Day. We participated in the Maryland & Virginia Stride n Ride in 2008. In December 2008 Selena received a power chair and is enjoying the freedom it gives her. She likes to try and run over her father and brother.

Selena is truly a joy to be around and we are blessed to have her in our lives. She is a vibrant and happy girl who likes to play with her big brother. We look forward to watching her grow and are happy to have her in our lives.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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