Biography

One year post herniated disc surgery., in 1999 I thought I never fully recovered.  I felt no more pain, but I was very unsteady, felt very weak, chronic fatigue, slurred speech, unexplained falling. I brushed the symptoms off to my 20 hour work days.  I made an appointment with the Neurosurgeon, one year post surgery,   about my symptoms and he suggest I see a neurologist, since the back surgery was a success.  He sent me to his “buddy” Neurologist to stop by on my way out of the hospital.  I showed him a list of my symptoms and he mentioned that these symptoms could be the beginning of MS.  I left his office stunned and in denial.  I waited a few years to see a neurologist as my symptoms where getting worse and I had a bad fall that resulted in an ACL tear.  I was diagnosed in 2003 with LEMS.  I was told that LEMS was a very rare autoimmune disease and there was limited medical treatment.  Over the next 8 years I tried Cellcept, IVIG, Mestinon and had no success.  Finally after 8 years of asking about any new treatment or clinical trials, the neurologist wrote 3,4 diaparadine on his prescription pad and wished me luck.  In 2011 I was able to google the medication and I found two clinical trials.  Barrows Neurology Institute in Phoenix, AZ. and The Cleveland Clinic.  I called the Dr. in Phoenix running the trial, since my daughter was a student at Arizona State University.  I needed to make 3 month commitment to start the trial, so I rented a studio at a Residence Inn across from the Emergency Room of the hospital.  20 minutes after my first dose I could walk steady on my feet.  Nothing short of a miracle! I was the first person on the clinical trial, I wanted to make sure I was next to the ER incase I experienced a side affect from the medication and needed immediate medical attention.  And I did, IN FACT need it!!  When I first started on the Jacobus trail, I was titrating up on the 3,4 dap dosage over the first few weeks, and when I got up to my first 20mg dose I experienced A-Fib.  My heart beat was over 200 bpm.  The ER took me in ASAP, my dr. called in advance, and I drove across the street.  I could barley catch my breath.  I was put on fluids and a heart medication to slow down my heart rate, so I would not get a stroke.  I was almost taken off the trial and had to get cardiac release to continue the trial.  I did get clearance.  I just needed a much lower dosage.  After two years on Jacobus, my Dr. mentioned a new trial with BioMarin now Catalyst and it had a phosphate base and I did not need to keep the medication in a cooler.  I said, sign me up! Personally I felt like the Firdapse help me feel a bit stronger and I did not need a cooler bag.  So that is what I am on today.  10 mg Firdapse 4x a day with 60 mg of Mestinon.  I am built for comfort and not for speed and I am now living my best life with my husband of 30 years.  I have two daughters, both graduates of Arizona State University (nurse supervisor and lawyer).  Walking is a privilege!!  Just say yes to rare disease research!!  I am now a patient advocate for Adults with On-Set Rare Disease and my mission is to educate adults about Rare Disease Symptoms.  How many adults brush off symptoms and blame long working hours or think you are just getting old, anything but a RARE Disease diagnosis.  Adults make up 50% of the Rare Disease community.  Awareness is KEY.  Rare Disease does NOT discriminate.