Diagnosis

It is never a great feeling when you find out your health is compromised. I clearly remember the exact moment on 07/15/21, at the age of 48, when the doctor came into my exam room with his nurse and informed me that I had ALS. During my appointment with the specialist, I went alone because I assumed they would run some tests.  I would return back for the results because that was how my life had been for the last several years.  Since I had so many tests done prior to this appointment, and they had access to my medical records when they completed  the additional testing, the doctor was able to give me a definitive diagnosis on the spot. He told me ALS affects everyone differently, but the typical life expectancy for this disease is 2 -5 years with continued loss of muscle movements, the ability to independently walk, talk, breathe or eat on my own, with the end result of total body paralysis and death most likely due to respiratory failure. He also informed me there was no cure for the diagnosis he just gave me.  At that moment, the rug was just pulled out underneath my feet, and I couldn’t believe what he was telling me.  It was like I was in a dream or having an out-of-body experience. I remember sobbing and having the nurse, hold my hand during it all. On my drive home, I felt numb, angry and thought, this can’t be real.  I'm too young to die, I’m not ready.  I kept replaying over and over in my head this can’t be happening.  They must have missed something.

The very first thought that went through my mind and was devastating to me was the thought of leaving my best friend/husband behind and not experiencing the retirement I always imagined, traveling and enjoying life with him in our old age especially since we just were entering the empty nest stage of our lives. The next thought was, oh my gosh, I will never see my daughters get married, or if they decide to have children, I will never meet my grandchildren.  It was the heaviest moment I ever experienced in my entire life. When I got back home from the appointment to an empty house, I went and sat on the deck staring at absolutely nothing waiting for my husband to come home from work so I could share the news of my appointment. Due to the nature of the news, it wasn’t something I wanted to share with him over the phone.  Of course, when I told him, he was devastated, distraught that he wasn't there with me. Besides having to process this news with him, we needed to take the next step by telling our young adult children, which was extremely difficult.  Then came having to tell the information over and over again to family and friends.  It was not easy and very, very tiring.  

My story prior to my ALS diagnosis, started like this in 2019. I thought I pulled a muscle in my right shoulder because I was having right arm/shoulder pain, weakness and numbness.  Of course, like most of us, I just treated everything at home thinking it would resolve on its own.  It didn’t and my symptoms continued to get worse.  Therefore, I went to my primary care physician for a treatment plan.  At that appointment, I was referred to an orthopedic doctor thinking I possibly had a torn rotator cuff.  An MRI was completed with the result of no tear. The Orthopedic doctor then did x-rays of my arm and neck.  He then referred me to neurosurgeon because he thought my symptoms were the result of spinal stenosis and compressed discs in my neck. After seeing the neurosurgeon, I was referred to physical therapy for several sessions which were unsuccessful. 

My weakness kept getting worse.  After multiple x-rays, MRI’s, EMG’s, and a CT scan of my brain, the neurosurgeon determined I had compression of the neck vertebrae.  On August 28, 2020 I went into the hospital for cervical discectomy and infusion. After a few weeks of healing, it is typical to be referred back to physical therapy. After participating in several weeks of physical therapy, there was no improvement, and my symptoms and range of motion in my shoulder were worsening. One day, while sitting at the table with my family for dinner, they said, “You are worse now than prior to surgery.”

I went back to the neurosurgeon with repeat x-rays, and it was determined the surgery was successful.  The discs were appropriately placed, and there was no compression or spinal stenosis. Therefore, the neurosurgeon referred me to another neurologist who conduct additional EMG’s of my legs, arms and my back.  After those were completed,  I was referred to Penn Medicine Hershey Neurology Department for further specialized testing. Typically, throughout our lives, we are told when we have medical test, and they are negative, that is a good thing. We have a sigh of relief and think thank goodness I don't have a brain tumor or MS etc. However, when having tests and they are negative, that is a bad thing because that means ruling out all the other possibilities to eventually get the worst possible terminal diagnosis which has no cure, ALS.