Chuck and Nicole Johnson

I remember distinctly at my 37th birthday dinner in June 2023, at one of our favorite restaurants, La Fina in Andover, MA, that Chuck had mentioned that he was experiencing shaking in his hands. I remember my first thought was Parkinsons. He assured me that hand shaking ran in his family (eg grandmother, mother) and we didn’t think anything more about it. We went about our normal summer activities: boating, going to the beach, spending time on the Jersey Shore, and renting a cottage on Little Neck, MA the first two weeks of September.  

We had decided in May of that year to officially start trying for a 3rd baby that Chuck desperately wanted. I was more hesitant and took more time coming around to this decision. Chuck wanted to be a more involved, stay at home father. One of the grand plans was for him to “early retire” or “take a break” from his 15+ year career in accounting at BNY Mellon and watch the kids full time. The accounting field is not known to be very “kid-friendly” and he worked a number of nights per month to 8pm right up until bedtime. Nicole was relieved that Chuck was going to be able to take over more of the childrearing responsibilities and she could re-focus on the corporate life and open herself up to further career advances. 

We ended up getting pregnant in September with a positive pregnancy test on September 23, 2023.  My first 8 week ultrasound was on October 20, 2023 and we excitedly shared the news to our families that weekend. Both sets of our parents were excited to have another grandchild, and my parents, who have been taking care of Charlie & Alana since their birth and during COVID, were looking forward to having more down time and to travel in their retirement era. I experienced pretty bad nausea during that first trimester and as that was subsiding, Chuck’s health issues continued to ramp up. 

It was at the beginning of November that Chuck came into my office saying something was noticeably wrong. He had lost 30 pounds without trying, felt generally fatigued and weak, had more noticeable muscle fasciculations, and lost a lot of upper muscle mass. At first, I was annoyed at how easily he/men could lose weight as I was getting used to my new post-pregnancy/mom body. I remembered him saying he could not get an annual visit at his PCP until February, which was insane. He did make an appointment at urgent care shortly thereafter, followed by an evaluation at CVS Minute Clinic on November 10, 2023.  From there, his liver enzymes (AST, ALT) showed up as abnormal and at my encouragement, we sent these results to his PCP via the portal which resulted in him getting an earlier appointment on November 21, 2023 right before Thanksgiving and a follow-up visit on December 8, 2023. A series of blood tests confirmed high AST, ALT values as well as an abnormally high creatine kinase value. Other tests for lyme disease and rheumatoid arthritis came back negative. Chuck’s PCP originally thought he had a liver issue which also prompted an ultrasound of his abdomen on December 12, 2023. When those results came back showing mild fatty liver disease, which may have been there for years without him knowing, and could not explain the muscle fasciculations, Nicole urged the PCP to refer Chuck to a neurologist.   

His diagnostic journey continued with him seeing a general neurologist through Beth Israel on December 14, 2023. Chuck came back pretty upset from the visit as this physician did not have the best bedside manner and he attended the visit solo. Over that weekend in the portal, we read the clinical visit summary which mentioned in writing “I am concerned Chuck is showing early signs of ALS”. Due to my job at Biogen for the past 5 years in the neuromuscular field, I knew this was a possibility, but seeing it in writing was gut wrenching. We tried to put on happy faces for our two extended family Christmas parties that weekend. An EMG/NCV was recommended as the immediate next step and I spent Friday, December 15th and Monday, December 18th making countless phone calls to get him an earlier appointment for this particular test as he was originally scheduled for an EMG/NCV on January 31st. After liaising with a Blue Cross Blue Shield of MA Care Manager and calling Beth Israel’s Neurology Department repeatedly, I was successful in getting him an EMG/NCV test scheduled on Tuesday, December 19th at Beth Israel. The abnormal findings of the test were communicated to us by phone on Wednesday December 20th and we were told he would have an appointment with a neuromuscular specialist at Beth Israel on Friday, December 21st. She gave us hope leading into Christmas that his ‘chronic ongoing motor process’ or ‘motor neuron disease’ could be autoimmune related, spine/structural related, or hereditary/genetic related.

A series of intensive testing was conducted during the next 8 weeks, including additional blood tests, CT scans of chest/abdomen/pelvis with and without contrast, MRI of brain, MRI of cervical/thoracic/lumbar spine, endoscopy/colonoscopy, lung function tests, video swallow test, genetic tests, and lumbar puncture to rule out any other possible causes for the motor neuron disease including polyradiculopathies, inflammation, cancer growth, etc. With each test result coming back in the portal as ‘negative’, our hopes were diminishing week by week. On February 14, 2024 Chuck was officially diagnosed with limb-onset, sporadic ALS and our lives as we knew it were officially turned upside down. Now we were faced with learning, adapting, and embracing our ‘new normal’ of living with a life-threatening neurological disease.

Throughout the diagnostic journey and period of uncertainty in January, I had started to look into and set up back-up childcare options knowing Chuck would be unable to fulfill the role of primary parent as we had originally planned. I applied for the children to enroll in a new half-day preschool in the fall (September 2024) and we started the process of applying for an au pair. We matched with an au pair named Wendy from Colombia on February 12, 2024. Thankfully this was two days prior to the diagnosis or I might have pulled out of that plan entirely in the immediate aftermath of my emotions and grief. Wendy joined our family full-time as of April 5, 2024 and we welcomed our third child (Jenna) to complete our family on May 28th, 2024. <3