Journey to Diagnosis

Rich injured his leg riding his bike in September of 2017. He went to physical therapy for a while and things improved. Over time, his limp returned and began to worsen. This led him back to PT for answers.  PT recommended seeing an orthopedist. Quickly, they urged him to see a neurologist. This was sometime around November, 2018- right around Rich's 28th birthday.  We tried getting appointments with neurology but they were booking out months in advance.  Meanwhile, his left hand began to show weakness and he experienced muscle twitches throughout his body.  The hand weakness was most noticed when he was unclipping our son’s highchair, who at the time was around 15 months old.  At this time I felt so much uncertainty and fear for our family, we had just purchased our new home and I was newly pregnant (about 4 months) with our daughter. I knew something wasn’t right, but I never imagined ALS, at worst, I thought it was MS or a brain tumor.  Having these thoughts was absolutely terrifying. Rich met with a neurosurgeon (thanks to my sister) at Lahey on December 18th, 2018. This was followed by an MRI of his brain and spine. The MRI came back clear- so the neurosurgeon was unable to help us further. At this time I felt relief… ahhhh… no surgery… no cancer… no chemo… maybe it’s nothing at all… Then came the neurologists, two neurologists to be exact.  They assessed Rich and were very concerned. At this point, we still had NO IDEA what they might be looking for.  We gathered with our families for our annual holiday traditions and enjoyed all of the laughs and fun of the season, despite the unknowns that were ahead of us.  Looking back at photos from this time, there is a lot of joy captured, and that, I am grateful for. 

Rich had his first electromyography(EMG) on January 28th, 2019.  I remember this day vividly. I was in my 3rd trimester of a very painful pregnancy. I had the flu.  I had been down for the count physically and was relying a lot on family members to help care for our son who was 17 months old now.  We had been waiting for this appointment for what felt like forever… Finally the day came and I had no clue what to expect.  At the time, Rich was commuting into the city for work and took the train to the appointment.  I met him there with the car. I sat sniffling, stuffy, with a foggy head, watching as my husband was poked with needle after needle into his arms, legs and back, all to assess those tricky nerve cells and muscles.  Following this EMG the neurologist very cautiously stated she believed it was ALS… These moments are very challenging to write about.  Soon I will write about our next steps and our transition to the Healey Center for ALS at MGH, which is now our home base hospital.

Love to all,

Leah