Chapter 1: The Pain of Loss

Many people assert that losing a child is the most excruciating experience imaginable, and there’s a deep truth to that statement. However, what often goes unsaid is that in the months following a child's death, there are countless moments that are equally painful and heart-wrenching. I recently faced one such moment when I learned about a potential treatment for my daughter's rare condition, just two months after her passing.

On that fateful morning, nothing seemed out of the ordinary. I lay under the covers, grappling with the question of whether I should even get out of bed. Since my youngest daughter, Theodora, passed away, getting out of bed had become increasingly challenging. I was aware that this wasn’t a healthy state of mind, and I had started to enforce a strict routine to combat my profound sadness.

After just a few minutes of aimless scrolling, I reached for my phone on the nightstand. I noticed a notification from a patient support group and hesitated to open it. I felt out of place there now; Theodora was gone, and any insight I could provide to other mothers facing similar diagnoses felt meaningless. Nothing I had done had saved her. Who was I to offer guidance?

Ultimately, I decided to open the notification.

As I read the announcement, my eyes landed on a striking image—a cover of Nature magazine emblazoned with the words "Timothy Syndrome" in bold black letters.

Photo by Gheorghe Popa, Nature Magazine, Volume 628, Issue 8009, April 25, 2024.

A decade ago, the term Timothy Syndrome was largely unknown outside a small circle of dedicated researchers who had been studying the mutation responsible since its discovery in 1994. Even during my daughter's final days in the hospital, I found myself repeatedly explaining the complexities of her condition to the medical professionals trying to save her.

When she was initially diagnosed, I invested countless hours in research, reaching out to scientists for answers. Unfortunately, most of my efforts to find effective treatments, even for her symptoms, were in vain.

In response, I co-founded a nonprofit organization aimed at promoting research and providing support for families affected by Timothy Syndrome. I felt compelled to take action rather than simply mourning my daughter’s diagnosis and waiting for her fate to unfold. This endeavor was far from easy; it's estimated that only 50% of rare disease communities have dedicated nonprofits, and our patient population consisted of fewer than 25 children worldwide. Nevertheless, we persisted, initially partnering with an established organization related to our condition and eventually becoming independent. In the same year we gained our independence, we began to establish a sister organization in the UK.

Despite all the progress made over the years, I never expected that a potential treatment would emerge so soon after Theodora's death.

The news hit me like a punch to the gut.

I struggled to breathe as I read the post, feeling as if the air had been sucked out of the room. I sat there, motionless, overwhelmed by grief as tears streamed down my face. Then, a primal scream escaped my lips—one I hadn’t uttered since the day we lost Theodora. If you’ve never experienced the raw, anguished cry of a mother who has lost a child, I truly envy you. There are no words to describe the sound of a grieving mother; it feels as if you’re trying to expel your very soul from your body just to alleviate the aching pain.

I don’t know how long I remained in that state of despair. But when the crying subsided, a realization washed over me, bringing a flicker of joy amid the sorrow.

Everything I had worked towards since 2014 was finally materializing. It may not be happening for us, but it was still a reason to celebrate. I was tired of witnessing children suffer and die. I was weary of the pain, fear, and uncertainty that gripped parents as they faced the harsh reality of their children’s diagnoses, just as I had a decade ago. We had won a small battle, even if the war would continue for years.

After Theodora’s passing, we donated her tissue samples to the Stanford Lab—the very lab that discovered the potential treatment. She had aspired to be a doctor, so this felt like an appropriate tribute to her memory. The lab reached out to express their condolences and inform me they had received the samples. They also requested permission to use a quote from a social media post linking to the Nature article in a grant application to highlight the need for treatment within our community. I readily agreed. As I continued reading the email, it became clear that they intended to use the funds to initiate human trials.

Human Trials.

The phrase hit me hard. This wasn’t merely a breakthrough in mouse models; they were ready to move forward with living patients, and Theodora wouldn’t be one of them. She had missed her chance to “get better.”

Throughout the years, I had held onto hope that Theodora might be one of the fortunate ones, that she would live to see her teens or even adulthood. She had already surpassed the initial life expectancy twice—first at three years old and then again when it was updated to six. It wasn’t until she turned ten that we began to envision a future for her, discussing who would care for her when her father and I grew older and unable, what she might want to become, and whether she would live independently or have children of her own one day. Ten years prior, we had lived moment to moment, fearful that each day could be her last.

Having been part of the Rare Disease community long enough, I understand that the road from an announcement of a clinical trial to an actual treatment is fraught with challenges. We still don’t know if the treatment will be effective or what side effects it may have on humans. It could take years for the results of the trials to be published, followed by the lab and drug manufacturer navigating the FDA approval process. Even if they clear all regulatory hurdles and bring the treatment to market, there will be cost and insurance issues that patients will face in accessing it.

I am still filled with anger and sadness over the fate that denied Theodora the chance to hold on a bit longer.

Yet, I find solace in the thought that if the human trials succeed, one day a mother will hold a beautiful child with Timothy Syndrome and be able to breathe easier, knowing her child has a brighter future ahead. This research could also enhance our understanding of other calcium ion channel disorders and heart rhythm conditions, potentially benefiting entirely different patient populations.

The journey toward rare disease treatments is long and arduous. I know countless parents and advocates in the broader community who yearn for the kind of news the Timothy Syndrome community has received. I recognize that I should feel joyful about this progress. I do. Many children will benefit from this research. However, I am also acutely aware of the countless children for whom it is too late.

There’s an important lesson here about doing the right thing simply because it is the right thing to do. Sometimes hard work yields results that may not directly benefit you. That’s acceptable. I grieve for my daughter and all the Timothy Syndrome kids who came before her and didn’t survive. Still, the hope this news brings to our small yet resilient community is a remarkable thing to celebrate. And celebrate it, I will.

The first video, Howie Mandel: Never Too Late to Make a Change, explores the importance of change and resilience in the face of adversity.

The second video, New Cancer Cure: World's First Child Treated with Immunotherapy Is Cancer-free 10 Years Later, highlights a groundbreaking success story in the fight against cancer.

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Thank you for taking the time to read! —Courtney