Personalized medicine helped my daughter walk

By Renee, United States, February 28, 2014

My daughter Shelby was born in August of 2000. For the first few months, I thought everything was normal. Then I realized she wasn't able to hold her head up, and she felt limp in my arms. She became weaker as time went on. I began taking her to neurologists and geneticists and doing multiple tests to determine a diagnosis. All the tests were coming back normal. We traveled to other specialists and hospitals, repeated many tests, many surgeries, tried new therapies etc. all to no avail. So she spent the first 10 years of her life in a wheelchair. She used a device to speak for her. She was very weak. When she was 10 years old, I noticed signs that made me think she was not going to pull through this. But then, just as she was taking a turn for the worse, I was given a new hope. Her Neurologists and the scientists at Tgen took a blood sample and decoded her DNA. The results came back and they were able to see the mutated gene and why she was having the symptoms she was experiencing. With that new information, we started her on a specific drug to treat the dopamine deficiency. The first set of drugs made her to sick to continue, but the second set was just right combination, It was her personalized drug therapy. Within a few weeks, I started to notice that her head and back were stronger. She would try to get out of the wheelchair more and move around. Her eyes were clearer and not rolling back in her head. Then, about 3 months after we started the drugs, one day she got out of the wheelchair, took my hand and said "Lets go for a walk mom" Needless to say, I had my fears and apprehension but I was so beyond happy. We walked down the sidewalk, hand in hand, up and down our street. I called my husband and my mom, who were all crying tears of joy! We went home and she continued walking around the house. At first I wasn't sure if it would last, I thought it might be just a fluke thing. The next day she asked me if she could go to school without the wheelchair. I remember thinking to myself, "this is crazy, this isn't happening" but off we went! She walked into school to the shocked expressions of the staff, teachers and her classmates. Just the day before, she was in her wheelchair and here she was walking! Everything just got better from that point. I called her neurologist to tell him, and to thank him for sticking by Shelby for so many years. To thank him for being a part of this Miracle! Shelby is now 13. She is in the 8th grade. She still has her struggles, but she fights everyday to be as strong as she can. We thank God for what he's done in our lives...for giving us our daughter back. Shelby has never used her wheelchair since that day her and I walked down our street. She is my inspiration. You can read more about her story by going to www.facebook.com/shelbyourinspiration

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