Shelby, our inspiration

My daughter Shelby was born in the summer of 2000.

At first, we didnt know there was anything wrong. She was a perfectly beautiful little girl. But as the months went on, we noticed she wasn't as strong as she should be. She couldn't hold up her head and her muscles seemed weak. So we took her to the doctor who referred us to our first neurologist. He did a long battery of medical testing that included blood tests, brain and spinal scan, spinal tap, EEG, nerve conduction tests, and muscle biopsy. Even though all the tests came back normal, we knew something was wrong.

For the first 10 years of her life, she was unable to walk and used a wheelchair. She used a communication device to speak. She didn't thrive like her sister's did. After a Barium swallow test revealved she choked on liquids because her throat muscles were too weak to swallow properly, we had to thicken her liquids. Her brain was perfectly normal but her body was slowly deteriorating. 

We spent every day searching for an answer. We took her to 4 different neurologists, 2 geneticists, and many other great doctors who all did there own testing, thinking they could solve my little girl's mystery. But again, the tests were normal and we were left with no answers, no treatment plan; let alone a diagnosis. The hardest part was putting Shelby through all the needles and testing; as some of them were painful and she would just cry through them and until we got home. But we had to keep fighting to figure out what was wrong. She was getting weaker and I couldn't even think of losing her. I wouldn't give up. We finally took her to the Mayo Clinic in Rochester, Minnesota. We stayed there for over a week and she met with some the best doctors in the world. The doctors suggested further tests, some that were repeated, including a second muscle biopsy, a second spinal tap and a 4th MRI. I assumed we would be leaving there with a diagnosis, I was even hopeful there may be a cure. But at the end of that week, when we sat down with the doctors, all of our hopes came to an end as we were told the same things over and over.  They didn't  have a clue what was wrong with her. They were through with there testing and we were sent home with nothing but our broken hearts and brave smiles on our faces so that we wouldn't scare Shelby any more than she already was.

As I was preparing for the worst, Shelby's neurologist back home in Arizona was pairing her up with a company called Tgen to be one of the first patients to have her DNA decoded. This was new technology that we hadn't known of before. Her neurologist had a suspicion and having her genetic DNA decoded would give him an answer.

So with the new information about her genetic make-up given to her doctor, it was revealed that Shelby had a gene abnormality which directly affects how her brain produces dopamine. The main symptoms she suffers from are severe low muscle tone and speech impairement. Her symptoms are very similar to Parkinson's Desease.

Shelby started taking a cocktail of perscribed medications when she was 10 years old. They are medications usually given to adults with Parkinson's Disease and within a few months she was walking on her own. She still has difficulty with her motor functions and speaking, but she is no longer using a wheelchair or a communication device. 

We are so grateful to her team of doctors and and to all her therapists and counselors who helped us along the way. It has been a long journey that feels like a lifetime, but we are not at the end. There are days that she is too weak to walk or talk.  Sadly, her condition comes along with side effects of depression, among other symptoms most people with Parkinson's experience.  Although her medical insurance covers most of the cost of her care, additional funding will help support her many uncovered medical costs, additional needed therapy, personal needs, Shelby's art supplies, and long-term counseling.  

To our friends and many supporters that have been with us along the way, this is an additional step needed at this time and your generosity will go directly to Shelby.

Much love and prayers for all of you reading this that are going through illness or trying to find a diagnosis for your child. Please know your not alone. I know how hard it is to keep fighting, but God has not given you more than you can handle. There is always Hope!

God bless and thank you from the bottom of my heart,
Shelby's mom
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ReneeandScott Valint 
Frisco, TX
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