Diagnosis Day

Our 16 month-old son was diagnosed with an ultra-rare genetic disorder that dramatically shortens his life. Heartbroken and devastated, we are on an aggressive hunt for a cure. #PrayForRiaan

On March 12, 2021, our lives changed. This feels like an understatement. There was life before this day - one full of the hope and promise of new parents - and there is now life after this day, the upside-down world, the aftermath, a place of melancholy and darkness. My husband and I had a telehealth appointment with my son Riaan’s geneticist. I feared the worst. The day before, they told us the results were in and the doctor wanted to talk to us. We had waited three months for these results - a whole exome sequencing test - and were deeply anxious. We had done a lot of testing with this office before, and they had always sent the results by email with a subject heading that said something like “Good news!”. Not this time.

It was as we feared. The geneticist told us that our beautiful baby boy had been diagnosed with an ultra-rare autosomal recessive hereditary disease, a neurodegenerative condition that impacts only a few hundred children in the world, and one that will cause my son to waste away, lose vision and hearing, his skills and abilities, face kidney failure and respiratory issues, and die young. Really young. Riaan was diagnosed with the most severe version of the disease because of his specific mutations and the early onset of developmental delays and other symptoms (like cataracts). They told us the median age of death is 5 years. Later, I reviewed the literature and I saw that death for his type ranges from 11 months to 7 years, with most children falling somewhere in between.

When we should be preparing for Riaan to begin elementary school, instead, we’ll potentially be preparing for Riaan’s funeral. The news was shocking. It was devastating. It destroyed every concept of safety I felt in this world. The pain and melancholy was unbearable. We were also told there was no cure, and that there were no treatments that could help delay disease progression. I angrily asked why they didn’t test me for it during my pregnancy. We had done all of the prenatal genetic testing. The geneticist told us it’s so rare they don’t test for it.

We were told to stay on top of the symptoms, and to regularly get his hearing and vision checked, and to take him to various specialists. There were no further instructions.

We were on our own.

That night was the worst one of my life. I cried and cried, I had multiple panic attacks, I vomited repeatedly. I didn’t sleep through that night. I woke up in a panic. At 2:00 am, I hit Google. I immediately found a researcher that had conducted a clinical trial on the disease. He was based at Boston Children’s Hospital. I wrote him an email in the middle of the night, seeking help. Did he have any insight for us? Did he know of any treatments or therapies? Was there anything on the horizon? Had his trial found anything? (Later, I learned the answer was no. There are no drugs that have been identified that can help delay disease progression - yet.). I felt a bit better as soon as I hit send. I was doing something to help my baby.

Earlier that day, after the diagnosis, I had reached out to my cousin, a pediatrician, and she emailed support groups on our behalf. There’s only one loosely organized support group in the U.S. for this disease, and one abroad. I received a call from the support group abroad the very next day, and the executive director was warm and kind. She told me, “Welcome to the family.” I grimaced. We don’t want to be a part of this family. But here we are.

Could we have been misdiagnosed? No, they all said.

But our little boy doesn’t, he doesn’t, there’s no - what we see in front of us doesn’t seem to comport with such a life-shortening, severe, relentless diagnosis. Yes, he’s delayed and has had vision issues but he’s bright, progressing, smart, hilarious, fun, and we thought doing much better.

Soon, the support group connected us to other experts. We began to set up Zoom calls to talk to people, to understand more about this disease we had never heard of and one that would now haunt us for the rest of our lives, to find out what would happen to Riaan, and if there was anything we could do. We learned that there is variability among symptoms - not every child gets everything - but we just don’t know what will happen to Riaan. We do know that no child survives this horrible illness. I also connected with investigators at the National Institutes of Health. I learned that there were no clinical trials, and not much in the pipeline. Dr. Francis Collins, the NIH Director, responded to my email and was very kind: he said that Riaan was beautiful, and that unfortunately the diagnosis was accurate. Frantic, I wondered what we would do.

I dove into the research myself. I made more Zoom appointments with experts. I tried to learn the lingo, the science, and what to ask. I spent hours trying to understand complex research studies. I found experts on PubMed, I read their articles, I reached out. I began to make connections with researchers, including ones abroad. They helped me to understand what they knew, what science had discovered, what was left to be discovered. Some of the people we talked to were unbelievably kind and helpful, and willing to do whatever they could. But still, we had hit a wall. What would we do? It seemed that in research, funding was always a major issue. As was time - it can take an unbelievably long time to establish proof of concept, engage in pre-clinical and clinical studies, and to go from idea to administration. And when you’re in the ultra-rare disease world, pharmaceutical companies are not as interested because it’s not profitable to help children. This is a reality.

A week or so after the diagnosis, we decided to share our story publicly - on Twitter - to get help in our hunt for a cure. We started the hashtag #PrayForRiaan. It was the best decision we made. Immediately, people messaged me good information, ideas, and the names of researchers and parents of children with rare diseases to connect with. A father of a child with a different rare disease told me something I would never forget - he said I was not helpless, that there were things we could do. We learned about genetic diseases, how labs conduct basic research, the process of drug development, and the therapeutic options available for genetic disorders including ones that had not yet been identified by the disease experts I had already spoken to.

Based on the new information, we sought out more experts. The experts connected us to other experts.

We now know we are the ones who have to push for a cure. To save Riaan’s life.

Today, we’re at the point where we have learned about a few novel and experimental medications that *may* theoretically help ease the impact of Riaan’s specific mutation, and are exploring a path - that although may take some time - could potentially work as an ultimate cure for the disease (gene replacement therapy). Working with an institution, we’re at the very early stages of trying to collect samples and run experiments. Research takes time, this I have learned. It’s frustrating but it takes time. But we have a plan and a team of researchers and physicians who are working with us. We are doing something. Our next step - as we await this preliminary fact-finding process - is to raise a lot of money to push these projects forward. Finding a cure is an incredibly costly endeavor, more money than I have ever made or will make in my life.

We still have a long way to go, and so much to do. But we have made *some* progress from diagnosis day, and we will not rest until we find a cure. We believe now more than ever that an answer is out there for our boy, and other children. We have faith. We have chardi kala (eternal optimism). No matter how much it costs. Our baby boy - our sweet, perfect Riaan - is worth it.

(Note, we have not yet publicly identified the name of the disease because we’re still exploring what we feel comfortable sharing and appreciate your understanding. If you would like to connect us to researchers or parents or anyone who may be able to help, we’re happy to share more information privately - thank you).