The 'Firsts' My Family Faced Navigating Rare Disease During COVID-19

Dear Gay…

I can tell you now, the decisions you struggled with over the past year end up OK. Just keep going…

I wish someone could have written me that note.

To know the end of the story, a year ago, would have made my life as a mom of someone with a rare disease a lot less stressful. A year ago is when COVID-19 started for most of us.

I started our COVID experience in a crisis. I got a call on March 13 at 6:30 a.m. from paramedics at my daughter’s apartment, an hour and a half from me. “Are you the mother?” He went on to introduce himself, very business-like, and I remember thinking… get to the point. “We are with your daughter here and she’s not responding to us.” I started asking questions and pulling on clothes with one hand, hopping to pull pants on, still talking. Grabbing my car keys, I ran to the car pleading, “Please don’t take her without me. Please… the virus… a hospital is the worst place for her right now. She’s fragile.”

“It’s the law ma’am, if she’s not responding to our questions, we have to take her in.”

This was the beginning of a lot of firsts. She’d never been in an ambulance, she’d never gone to a hospital without me, she’d never been to the hospital where they would take her, she’d never been exposed to a virus she might not survive.

I begged and pleaded with him to give me time to get there. “No one will know her disease, they won’t know how to care for her, please wait for me… the virus, a hospital is the worst place for her,” I repeated desperately.

Just two days prior, I had called her neurologist to ask, “Should I bring her home? What I’m hearing sounds scary, what can you tell me?” Together, we decided to cancel all therapies and have her stay in her apartment for now, even with the caregivers coming and going.

I was regretting my decision now.

6:40 a.m., I was driving north on I-5 and calling her neurologist’s cell phone. Another first. I’d had her cell for years, but never used it, until now. I blurted out words like… ambulance, new hospital, new virus… I’m not there.

It worked out, like the other unknowns we were faced with over the next 13 months. The doctor was able to call ahead to the emergency room, coordinate care and I made it in less time than I’ll ever admit.

I drove into the parking lot of this “new to me” hospital and saw the white tents being erected in the parking lot. Another first. White tents preparing for patients at a hospital that would soon have no room.

By the time I got to her, they had already sedated her, trying to stop the movements caused by her rare disease. I knew what they had given her was too much, but still no match for her disease. Her body was still thrashing. Her eyes were open, she cried out, but she was unaware. She didn’t know I was there.

I felt out of control as so many people moved around her, machines beeping, people yelling, and that’s when I heard someone ask for gloves and another responding, without looking up, “There aren’t any.”

In the emergency room, I witnessed doctors and nurses without gloves, masks and necessary medical supplies we used to take for granted. My focus was seeing my daughter stable enough so that I could take her home.

The one thing that wasn’t a first was seeing test after test being done, blood drawn from arteries instead of veins because she was dehydrated, MRIs and other tests for infections… all normal… not a first for rare disease. “We don’t know what’s wrong.” These are words that aren’t a first in the world of rare disease.

After a full day of tests and once she was stable and alert, I signed paperwork acknowledging I was taking her against their recommendation and if she dies, I’m responsible. Again, not a first.

It was now 5:15 p.m. and I headed south with my daughter asleep in the passenger seat next to me. The five lanes heading south had few cars. Very few. If you have ever traveled from Los Angeles to San Diego, you know that seeing an open highway on a Friday at 5:15 p.m. is a first. This reinforced COVID was real. I had no idea if my daughter and I now had the virus and I was taking it home.

With our daughter home now with us, we became ultra-diligent. We stayed home, we stopped construction on our house and sent the workers away, we ordered all our food online, we microwaved our mail, we washed our groceries on the front steps, we saw no one. We had a compromised adult child at home with us now and our world returned to what it was years ago. We isolated without apology. We were forced to make decisions with little to no information. We were very much alone.

We had a plan for when and if COVID came into our home and one of us got sick. We had a plan how we would quarantine from one another, away from her, to keep her safe. I worried how I would care for her alone if my husband were the one to get sick. I worried all three of us would be sick at once and how would we manage?

This took me right back to when my daughter was a baby and had no diagnosis. She was rare. We had no idea how rare. When she was a baby, we changed her diet, convinced that certain everyday items, like cow’s milk, made her have severe tremors for days. We had an environmental scientist comb through our home and evaluate products we used and when he suggested candles might affect her, I threw them all out. We went to extremes to try to help her then and in 2020 with COVID in our world, we did it again.

My husband and I worked full-time jobs with no outside caregivers. Every day. Our daughter usually has 24/7 care, can be up multiple times a night, uses a wheelchair and needs assistance with all things physical. She’s as sharp as a tack, even decided to get her master’s during the pandemic because “what else am I going to do?” Someone has to get her computer for her, the charger, reset the Wi-Fi, cook her meals, bathe, dress, reposition, transfer her and assist with all daily living. We felt old fast.

We mastered coordinating calendars so I knew the time of my husband’s work calls and he knew mine. Every week our calendars were printed out on the counter. We highlighted calls that couldn’t be interrupted and we worked together. We decided who would cover breakfast, dressing and getting her ready for the day. While one helped our daughter, the other would work then and we’d switch for lunch. Every minute was managed and some days this worked and some days it didn’t.

It was a flashback to when she was a baby, and I wouldn’t let anyone help. I didn’t know what was wrong, so I oversaw every single decision. In 2020 with COVID lurking around every corner, I was just as diligent as I was in 1997.

Her monthly infusions were done in the garage because I wouldn’t let anyone come into our home. Setting up infusions, I asked a lot of questions like “how many people does the nurse live with, does their spouse work outside the home, are they working in a hospital or only homecare, how many patients are they seeing, are the kids in school?” The first nurse came and once again, I witnessed the lack of supplies. The infusion was given without the required safety measures because it’s all we had… on the spot I decided the benefit of the infusion was greater than the risk of what might happen. I remember the nurse saying she felt like she was working in the wild, wild West.

I had to trust myself about making these decisions each day, for the year. I understood that only a vaccine would get us out of this, and I also knew she couldn’t be first in line. I remembered being told the likelihood of a reaction to the chicken pox shot is minimal, yet she got chicken pox from it. COVID is bad, but the vaccine may, for her, be worse.

I read what I could and collected all kinds of information. I spoke to her doctors, researchers and our friends who work in science and medicine. We decided as a family to get the vaccines. More decisions had to be made with little information. Should she wait to get it, how long, how will it react with her other medications, her monthly infusion, her disease? We have no answers. I heard and I understood. We were on our own again.

It was finally decided she should get the vaccine as soon as we could get one. The risk of COVID was far greater than the vaccine, but to get it, she should stop her treatment for a month prior to the first vaccine, wait the 21 days for the second vaccine, then wait another month to restart her treatment. She would go without her treatment for three months. We’d been forced to stop her treatment by insurance before and the results were horrendous. This time we made the decision by choice.

Today, she’s had both vaccines, waited a month and has just moved back to her apartment that waited empty for over a year. It’s taken me a few days to process what we did. While other’s lives slowed down, ours sped up to a speed we had forgotten. Today it almost feels like it never happened.

… you’ll make it through, and she’ll be OK.

Gay Grossman is co-founder of ADCY5.org. This piece was written from my own experience as a rare disease mother. The opinions expressed in this article are mine, and the content reflects my own views and not the opinions or views of my employer, Neurogene Inc.