My Journey Through Diagnosis

I first noticed muscle issues back in mid October 2015. I noticed that it was hard to grip a horse shoe after putting in horse shoe pits in the back yard. With the busy holidays, I went to see an orthopaedic provider in January 2016. After an xray, damage to muscles, tissues, and bones were all negative and I was referred to a neurologist. An MRI was completed to see if there were any nerve kinks, blocks, issues and it came back as completely normal. After a battery of testing (and retesting at times), including electromyography (EMG), nerve conduction velocity (NCV) studies and bloodwork that included CBC, CMP, hepatitis testing, lyme disease, thyroid, liver and kidney functions, I heard for the first time the diagnosis of ALS on February 22, 2016. There is no diagnostic testing for Amyotrophic Lateral Sclerosis (ALS or "Lou Gehrig's Disease"). This can make for a hard time figuring out what is "wrong." I got a second opinion from another neurologist in the same office that wanted to rule out an autoimmune disease called Chronic inflammatory demyelinating polyneuropathy (CIDP). CIDP is a rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. I got 5 days in a row of immunoglobulin via intravenous infusion (IVIG) in March 2016. We also started the only food and drug administration (FDA) drug available to treat ALS: riluzole within 2 weeks of this appointment, just in case. Riluzole is supposed to slow the process by protecting neurons-in study prior to FDA approval back in December 1995, it extended life expectancy by 3 months. Is it weird that we were hoping for this diagnosis so that I could be treated and manage with IVIG? Unfortunately, it did not solve side effects and on followup appointment approximately one month later, neurology symptoms had actually progressed and were again diagnosed with ALS on April 11, 2016. With rare diseases, I felt that it was important with our proximity to Atlanta to go to a specialty clinic and tranferred my care to Emory University in June 2016. When I went to this appointment for technically a 3rd opinion, I did not expect a different diagnosis. I wanted to be in the best place for treatment with a team approach that bridges many disciplines including physicians, nurses, therapists, social workers, research, etc are all in one location. This was an amazing decision because Emory is one of largest ALS Centers in America. Their slogan is “Celebrate Life, Imagine a Cure.”