The Steps After a Rare Diagnosis — What To Do Next

This personal story is shared through the eyes of Jessica Fein, rare disease caregiver and MERRF advocate. She shares their family’s journey after her daughter, Dalia, was diagnosed with MERRF Syndrome at the age of four.

My daughter Dalia, 16, has MERRF Syndrome, a rare mitochondrial disease that affects about two in a million.

We adopted Dalia from Guatemala when she was six months old. Early on I had a hunch that something wasn’t quite right with her development–her speech was garbled and her gait was wobbly. But the doctors told us she just needed time to catch up and early intervention said she didn’t qualify for services. And so I questioned myself: Am I overreacting? Am I being a helicopter Mom? But that parental instinct is strong, and when you have the feeling that something is wrong, you need to honor it.

I convinced the doctor to do a hearing test when my daughter was four and discovered she had hearing loss. Because the hearing loss was unexplained, doctors recommended genetic testing. From there, things moved quickly. She was diagnosed with MERRF Syndrome. We were “lucky” in a way, because the diagnosis came easily. But the diagnosis was crushing. Honestly, I didn’t even know what mitochondria were, so it was really hard to understand the gravity of the doctor’s decree. He started pulling out charts and telling us about proteins and energy. We were trying to get a handle on how serious it was. We did what everybody does: we became addicted to Googling. And that was a double-edged sword because we learned a lot of important information and also a lot of devastating information.

What I would tell someone who is newly diagnosed is to give yourself some time. Let the news sink in and settle in a bit. The disease is going to define a lot of your life, but it does not define your child and it does not define you. It’s going to be a long and complicated road. It’s traumatic. It’s tragic. But you’re going to get through it. You will rise to the challenge if for no other reason than you don’t have a choice.

The immediate feeling is total isolation. Not only might you be the only person you know with a sick child, but you are most likely the only one dealing with this specific diagnosis. We were able to connect to other families living with mitochondrial disease. But connecting with other rare parents is equally useful, because it doesn’t matter exactly what the disease is, the feelings and the practicalities are often very similar.

“If I could go back in time, there’s so much I would want to say. First of all, I would say, ‘You’ve got this.’ But I’d also say, ‘This is a marathon, not a sprint.”

Another way in which I am fortunate is that I have a strong partnership with my husband. My daughter is 16 now and has completely lost her ability to move. She is attached to a ventilator and fed through a g-tube. Suffice to say, her care involves a lot of tubing. I was so intimidated by it at first, so my husband said, “I’m the tubing guy.” It was the most romantic thing he’d ever said to me. The most valuable thing my husband and I were able to give each other was the gift of time. We each have one night off on our own and we also take one night off together. In order for us to go out, we need a nurse and a babysitter, but it’s worth it. Every single week we get in the car and say the same thing: “We have never needed a date this much.”

Grief can show up unexpectedly. Years after the diagnosis, we were out on a date and in between appetizers and cocktails, I started sobbing. My husband said, “Are you feeling okay? What’s wrong? Should we leave?” Suddenly, out of nowhere, I was thinking about the fact that I’d never go wedding dress shopping with our daughter. She was seven at the time. I realized later that I was grieving the loss of what I thought her life would be like, and, by extension, what mine would be like.

The question of grief is a really complicated one. On the one hand, I’m not grieving my daughter. As long as she’s with me, I won’t be grieving her. But there is also anticipatory grief and grief for all that she–and we—have lost, and that’s okay.

One day after my father died, I found a letter he had written to me years earlier. He talked about the world being so loud and chaotic, and that it’s too much for us to create a world of beauty. But you can create corners of beauty. There is no light at the end of the tunnel for my daughter. It’s going to get worse. But we can still try to make each day as good as it can be.

We can make it a beautiful tunnel.

Global Genes has created a series of toolkits, videos, and checklists to share insights from rare advocates and experts who have personal experience – professional and personal. This patient story was featured in our genetic testing toolkit, Diagnosis or No Diagnosis – What To Do Next? Find more information and download all four free Genetic-Based Diagnosis toolkits and other resources here.