Penny's Parkinson's

    In 1961 Jean gave birth to a daughter, Penny. She was the first born; a true leader, participant and giver. Twenty-four years later Penny gave birth to her first child and daughter, Sara.
My mom, Penny, was diagnosed with Parkinson's when I was twelve years old.
    "Parkinson's disease (also known as Parkinson disease, Parkinson's, idiopathic parkinsonism, primary parkinsonism, PD, or paralysis agitans) is a degenerative disorder of the central nervous system. It results from the death of dopamine-containing cells in the substantia nigra, a region of the midbrain; the cause of cell-death is unknown. Early in the course of the disease, the most obvious symptoms are movement-related, including shaking, rigidity, slowness of movement and difficulty with walking and gait. Later, cognitive and behavioral problems may arise, with dementia commonly occurring in the advanced stages of the disease. Other symptoms include sensory, sleep and emotional problems. PD is more common in the elderly with most cases occurring after the age of 50." (from Wikipedia)
    My mom was 34, and had a case of early onset PD. Through my mom's journey we have learned that a prescription medication was the contributing factor to triggering the LRRK2 gene she was already carrying. She was in and out of the hospital a lot due to wrong dosages of medications and adverse reactions. Too much medicine leads to more shaking and rigidity, too little causes her to become stuck, literally! Although she is highly functioning and enjoys riding her bike, playing with her granddaughter, teaching and helping others, she is in a constant battle with her medications.  At such a high dose, accommodating the progression of her PD the past 13 years, it is almost lethal. The treatment for Parkinson's is limited.
"The main families of drugs useful for treating motor symptoms are levodopa (usually combined with a dopa decarboxylase inhibitor or COMT inhibitor), dopamine agonists and MAO-B inhibitors.The stage of the disease determines which group is most useful. When medications are not enough to control symptoms, surgery and deep brain stimulation can be of use. In the final stages of the disease, palliative care is provided to enhance quality of life." (from Wikipedia)

 

My mom had been offered and approved for Deep Brain Stimulation Surgery twice over the past three years, each time opting out feeling it was not the right choice for her. Last month when I saw an advertisement for a PD clinical trail, I jumped at the opportunity. The trial is for a PD treatment called Gene Transfer. Researchers have been working on gene transfer products to help with all kinds of genetic diseases such as cancer, Alzheimer's and cystic fibrosis. The gene used is called the CERE-120. Also known as the CERE GENE a.k.a Sara (daughter) Jean (mother)! How cool is that!!! The trial as almost at the point of being FDA approved and my mom is currently going through the process to be involved in a cure! Please visit the following websites for additional information...
http://www.ceregene.com/index.asp
http://www.michaeljfox.org/