My Child died of MERRF, a Rare Disease. I’m Still Fighting.

When my husband and I adopted our daughter Dalia from Guatemala, almost 18 years ago when she was 6 months old, there was so much I did not know. I didn’t know how to get her to sleep when I was desperate for a nap. I couldn’t tell if she meant she was hungry or fast or crying. I wasn’t sure how she reacted to our dog, who was three times her size, or why the first sounds she made were more like grunting than cooing. Little did I know that it would take me less than a minute to fall in love with her when she was placed in my arms or that I would love her more with each passing day when I thought I loved her as much as humanly possible. .

And I didn’t know she had MERRF syndrome, a rare degenerative mitochondrial disease.

Dalia was diagnosed with MERRF when she was 5 years old. I did not know, and I would have never learned, what was MERRF, or even mitochondria. What I learned and what I now know all too well is that MERRF, short for myoclonic epilepsy with ragged red fibers, is a very rare disease that affects less than 1 in 100,000 people. Symptoms vary from person to person and can range from seizures and impaired coordination to eye abnormalities, dementia and heart defects, and can even lead to death. I learned that there is no cure and that degenerative disease is a very cruel decree for a child. Over time, I learned that most of the doctors we encountered had never heard of MERRF syndrome.

At first, Dalia developed normally. At least that’s what the doctors and early intervention experts said when I raised my concerns that her speech and balance seemed off. But then at age 4 she was diagnosed with mild to moderate hearing loss. That led to genetic testing and ultimately an unimaginable diagnosis of a disease that would slowly rob her of her ability to walk, talk, eat and breathe on her own.

The author with 7 year old Dalia.
The author with 7 year old Dalia.

It was not known how quickly the disease would progress or where next it would strike in her little body. Sometimes it felt as if she was learning and losing at the same time. She went from waddling to running and jumping, back to a stroller, a walker and then a wheelchair. She learned to write her name and surprised me with sweet notes in my work bag. In time, I put my hand over her head to steady her grip on the pencil. Her words were scribbles we hung on the refrigerator.

When she was 9 years old, Dalia got pneumonia and had to be hospitalized. We stayed in the intensive care unit of the hospital for three months. When we returned home, she had a tracheostomy tube in her neck that was connected to a ventilator. She never walked or talked again. She needed daily care – a trained nurse or my husband or I to keep our eyes on her at all times.

For the next eight years, we lived on the precipice. We learned what the numbers on the ventilator meant, when to suction a trach tube, how to use a feeding pump, cough assist machine and ceiling lift to transfer our daughter from her bed to her wheelchair and back again.

We wish we could have more days, more moments, that were better than the ones that came after.

We pushed the machines and alarms and medical equipment to our peripheral vision and focused on bringing as much happiness and laughter into Dalia’s life as we could. We carefully moved the tubes aside so we could get into bed and read to her. We had water fights with the saline syringes meant to lubricate his trough. We tied a kite to the arm of her wheelchair and watched it soar. And sometimes the joy was higher than the sadness.

Dalia dancing at her bat mitzvah.
Dalia dancing at her bat mitzvah.

I hated everything about this strange disease that was taking my daughter away from me. I would give anything – my house, my limbs, my life – to banish him. But his tentacles were too strong.

Now, almost exactly a year after Dalia’s death, I am more committed than ever to spreading the word about mitochondrial diseases in particular and rare diseases in general. I speak and write and sit on the board of MitoAction, a support and advocacy organisation.

For all those years I was focused almost exclusively on my tree. Now I see the forest. There are approximately 10,000 known rare diseases, affecting 30 million people in the United States alone.

My friends whose children have rare diseases ask me, “Why are you still here with us?” They don’t understand why I choose to stay in this horrible club that I no longer need to be in – why I would allow the very thing that broke my life to take up any more space.

I would love to say that I only speak out to help the next family that is about to get a life changing call. But the truth is simpler than that: I am not the person I was before I knew about MERRF syndrome. The impact of the rare disease is now woven into my DNA and binds my daughter and I inextricably together.

When I talk to and work with others in the rare disease space, I feel close to Dalia. I can share her story and hopefully share some of the impact she made on everyone she touched in her life, because what I learned from Dalia was so much more than the minute description of how to care for a child or even how to take care of a child. a person with a debilitating illness.

The author and her husband with 12-year-old Dalia, whose wheelchair has been converted into a chariot for Halloween by Magic Wheelchairs.
The author and her husband with 12-year-old Dalia, whose wheelchair has been converted into a chariot for Halloween by Magic Wheelchairs.

Photo by Erica Derrickson

Dalia showed me that you don’t need to speak to make the loudest impression in the room. She showed love, even when she was so angry about it, and people showed that love back to her. She showed me that you can have awesome dance moves even when you can only move your shoulders and that it’s okay to be happy, even when you’re devastated. She taught me that sometimes the goal is not to find the light at the end of the tunnel but to make the tunnel itself as beautiful as possible.

So I’m glad I didn’t know Dalia had MERRF syndrome when I adopted her. If I had found out about a little girl in another country with a terrible disease, I don’t think I would be the one to raise my hand. But by the time Dalia was diagnosed, she was mine and mine. She could no longer be my daughter if my healthy genes were coursing through her body.

It is heartbreaking to be with other families in the world of rare diseases and to know first hand the challenges they face. But it would be impossible to walk away and pretend I didn’t know what to do now. So today I honor Rare Disease Day as the calendar tells me to do. And the rest of the year I do what I can to spread the word as my heart tells me to do.

Jessica Fein writes about mixing joy and sorrow, raising a child with a rare disease and staying grounded when life tries to blow you down. She is the host of the “I Don’t Know How You Do It” podcast. Her memoir, “BreathTaking: Rare Girl in a World of Love and Loss,” will be published in 2024. Connect with her on Instagram @feinjessica for real talk about love and loss and great book recommendations.

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