Diagnosis Takes Time. Life Doesn’t Wait.

I had dinner with a friend the other night. One of her family members was admitted to the hospital with concerning symptoms a few weeks ago, and an ER workup revealed advanced cancer.

As she described what her family has been navigating — the constant coordination of appointments, treatments, and second opinions — I was transported back to that same period three years ago, when we were living this reality with Rona. I know many of you can relate.

Getting to a diagnosis, and then to a treatment plan, is both chaotic and maddening in how long it can take to get answers. When someone you love is sick, you just want to do something. And often, the rate-limiting step to action is access to the right information at the right time.

The average person living with a rare disease waits more than four years for an accurate diagnosis.¹ Advances in genetic testing and more comprehensive biomarker panels have shortened that timeline for many families. I’m particularly heartened by the increasing uptake of genetic testing in the NICU, as growing evidence suggests that a substantial proportion of NICU admissions are driven by underlying genetic conditions.² In December, two new conditions were added to the U.S. Recommended Uniform Screening Panel for newborns. This progress that matters deeply, because conditions are added when there is something we can do about them.³

What we talk about less is that many rare diseases, especially those that present in childhood, are degenerative. Treatments may slow or halt progression, but few result in remission. This means the longer it takes to reach a diagnosis, the more function is permanently lost, and the less there is to recover.

The advances we’ve seen in precision medicine are extraordinary. For the first time, there is meaningful hope for families facing historically terminal diagnoses. Leukodystrophies are one example, where gene therapies are now being heralded as approaching curative potential.

There are also clinical trials underway, supported by recent FDA guidance intended to accelerate access to novel precision therapies. And still, we have a long way to go.

Fewer than 10% of known rare diseases have an FDA-approved treatment.⁴ Even when off-label options exist, securing approval can be an uphill battle.

In the clinical trials space, barriers compound quickly: study designs that don’t reflect real patient experiences; a limited number of sites with the infrastructure required to deliver advanced therapies; patient populations scattered across vast geographies; and insurance denials driven by concerns about the cost of complications from experimental treatments.

The reality is that far more families will spend this year waiting to learn whether any next steps are available than will actually begin treatment.

The waiting — for answers, for options, for hope — is the hardest part.

And amid that waiting, and hopefully eventual treatment, life keeps moving forward. There are family gatherings to attend, birthdays to celebrate, snow days, ballet classes, and playdates to be had.

We talk often about life before and after diagnosis. In reality, many of us must first survive life during diagnosis. It’s a state of living in two worlds at once: savoring the life you envisioned, while understanding that version of the future may be slipping away.

I sent a note to my friend after dinner with a few things I wish I had known when I was in that liminal state:

“My unsolicited advice? (Please feel free to ignore this or roll your eyes, if you want): Trust that nothing is definitive yet, even if it feels like it is. Stay off of the internet and don’t read articles and links sent by well-intentioned family and friends. I hated MyChart and made Rona’s doctors call me with the updates. Find a doctor who is willing to do that to make sure you have the info. It’ll be a game changer as you get into treatment.

Finally – and I’m sure you know this, but it never hurts to be reminded - some of my favorite memories of Rona are from her time in treatment. The hollowing out the grief a diagnosis brings makes room for joy (or so says Rumi). It’s the yin and yang of it all.”

References¹ EURORDIS. The Diagnostic Odyssey of Rare Disease Patients.² Stark et al. Genomic Sequencing in the NICU, The Lancet Child & Adolescent Health (estimates ~20–30% genetic etiology).³ U.S. Department of Health & Human Services, Recommended Uniform Screening Panel (RUSP) updates, December 2024.⁴ NIH / Global Genes estimates: fewer than 10% of ~7,000 rare diseases have an FDA-approved therapy.