When the Lightning of a Rare Diagnosis Strikes Twice in Your Family

Yesterday I rode a dharma boomerang. 

I awoke to the news that a beautiful friend had left her body far sooner than any of us imagined, leaving her two young daughters motherless.

And by the end of the day, my 10-year-old daughter had formally said goodbye to the members of her medical research team who had administered life-saving experimental drugs through a clinical trial over the past year.

Between those two monumental and life-changing events, I had taken my youngest daughter to urgent care. A visit that resulted in an unexpected and immediate consultation with a pediatric neurologist for the rare and wretched disease that threatens her wellness and tries to steal her health.

It is a disease unrelated to her sister’s — evidence that lightning does in fact strike twice, and over and over, in the same place.

Life and death —  and all the in between — in the same twelve hours.

Only a week and one day earlier, I was graced to hold my friend in my arms one last time and to share our final spoken words. I joined her friends and daughters to love her intensely and with complete focus, as she prepared to move from where she lay and enter hospice in the house of her childhood. A home with a magical and healing garden, a garden her mother still tends.

Yesterday, for the first time, I wrapped my arms around my 10-year-old without the specter of a life-threatening illness shadowing her future.

It was a profound moment of catch and release. A moment that is certain to be felt more deeply in the days that follow. As she leaned into the hug and squeezed me tight with arms plump with childhood, I felt graced and overwhelmed with our good fortune, even as we fight the shadows of my other daughter’s illness.

​We are outliers of luck of all kinds, enveloped by endings and new beginnings.

Find this story helpful? Share it with someone you care about.

Related to Rare Disease

When Your Favorite Thing to Do Is Eat, But Your Illness Makes It Difficult

I used to love eating dinner out somewhere. I love food. Food is the best thing about being near a city. I always had a dietary restriction, but I could be looser with it. I could opt for that bowl of ice cream and skip the pizza. But this summer brought sweeping me new changes. [...]
Family silhouettes in nature.

To the Parents Starting Their Journey Into the World of Rare Disease

I’ll never forget the first time a medical professional told me something may be wrong with my then 2-year-old. He said, “Not all kids are athletes or Olympians, but they learn to compensate in other areas.” This was undoubtedly an odd way of starting the conversation that my child needed to see a neurologist because [...]
little boy in a hospital bed with a service dog

What This Non-Supermom and You Have in Common

My journey through motherhood has been a long one, beginning long before my son was born. After going through years of fertility treatments, five miscarriages, and a difficult pregnancy, I was blessed with my son Giovanni. From the moment he was born, life became filled with challenges we never expected we would have to face. But seriously, who [...]
The Hardest Parts of Having a Rare Disease, picture of patient and doctor's hands

The Hardest Parts of Having a Rare Disease

There are more than 7,000 identified rare diseases worldwide. Global Genes, one of the leading patient advocacy organizations for rare disease, estimates that “nearly 95 percent of all rare diseases do not have a single FDA-approved drug treatment.” With grim statistics like this, it is certainly not easy living with or having a loved one [...]