A curve ball…
It has been some time since I updated this blog. Jacki and I had a busy summer and a jarring fall. Jacki was diagnosed with ALS (Amyotrophic Lateral Sclerosis, or Lou Gehrig’s Disease) in November by a local doctor, and it was confirmed by doctors at UCLA on December 22, 2008. ALS is a progressive disease which kills motor neurons in the brain, cutting off communication between the brain and the voluntary muscles of the body. Here’s the definition from Dictionary.com:
–noun Pathology.
an incurable disease of unknown cause in which progressive degeneration of motor neurons in the brain stem and spinal cord leads to atrophy and eventually complete paralysis of the voluntary muscles. Abbreviation: ALS
It started this past spring, when Jacki’s voice became hoarse; it sounded like she was crying when she spoke. We thought it was just a summer cold and didn’t worry too much about it, figuring it would just go away. She would also have occasional cramps in her hands, causing her fingers to curl but then return to normal a short time later. We didn’t think too much of it, and certainly never linked the two symptoms together.
Her voice didn’t improve, however, and her speech suddenly started to slur occasionally as well. The hand problems became more frequent, but she thought it might just be the onset of arthritis or something. She saw our PA (Physician’s Assistant, who we consider our doctor and have followed her from office to office because her care is so great) in October, 2008, who referred her to an ENT to have her throat checked. She had a scope that enabled direct viewing of the vocal cords inserted through a nostril, and discovered the right side was not moving. Normally, the two vocal cords will converge to vibrate together when air passes over them, and retract when not vocalizing. Having only one side move over the air stream and vibrate is causing her to work harder to get her voice to respond, and causes the tension in her voice.
The ENT ordered an MRI of Jacki’s throat. It showed no abnormalities or growths that would cause the problem, so she was referred to a neurologist. The neurologist noticed muscle twitching on her tongue and her arms, and connected the hand symptoms to the voice problem. He performed an EMG (Electro MyoGram) and a nerve conduction study and told her he suspected ALS. He ordered an MRI of the brain to see if there were any other problems that could cause her symptoms, but it came out clean.
ALS does not show up on an MRI as would a tumor or lesions caused by MS (Multiple Sclerosis). This helps to confirm his suspicion. Essentially, they rule out everything else to arrive at an ALS diagnosis.
Our PA got wind of this and set us up to see neurologists at UCLA. We went on December 22, 2008 and they repeated the examinations and the EMG and nerve conduction studies, reviewed the previous MRIs and test results and came to the same conclusion. They said that for a “full” diagnosis of ALS, at least three areas have to be affected; Jacki only has symptoms in two areas but they feel that it is simply early in the disease and other areas will follow. They prescribed the only drug that is FDA-approved to treat ALS, Rilutek.
Despite having difficulty with dexterity and speaking, Jacki is working, driving, and bowling with me in our league on Monday nights. She is getting physical therapy and speech therapy, and we are going to go to the ALS Clinic at UCLA for further monitoring and therapy.
I will attempt to keep this blog updated more frequently, but you can get up-to-date information on my Facebook page:
http://www.facebook.com/people/Patrick_McNeal/595968598
Patrick