My son, Rowland, was diagnosed with cystic fibrosis at 6 months old after a negative newborn screening. I learned from our genetic counselor that some gene variants can be found more frequently in individuals with certain racial and ethnic backgrounds. One of Rowland’s variants, H609R, has only been found in Ecuadorian populations.
I am half Ecuadorian and felt an irrational sense of guilt for giving Rowland this rare variant that is not currently eligible for a modulator despite some research suggesting there could be a response to Trikafta®. I felt alone in those first two months post-diagnosis. How could anyone understand these complex emotions that exist regarding cystic fibrosis and ethnic background? Who could understand the cruelty of knowing your son could respond to Trikafta, but then be denied access? Who would understand the anger one feels after having a negative newborn screen due to two rare variants? And who could understand the complex juxtaposition of feeling thankful that there is now a diagnosis and proper treatment — and yet still feel some distrust and hesitancy because medical professionals initially dismissed your son’s symptoms when you knew something was wrong? It could have been a lonely and isolating trajectory, but thankfully I am not alone.
Two months after my son’s diagnosis, I received a phone call from our genetic counselor. I learned that there was a woman living in Toronto named Vicky who was interested in connecting with me because one of her son’s variants is also H609R. Her son is just three years older than Rowland. A few weeks later, I received an email and we arranged a WhatsApp video call. In that initial conversation, we spoke about what led to our sons’ diagnoses, and our shared Ecuadorian heritage — Vicky and her family are full Ecuadorian. I vividly remember at one point in the conversation Vicky casually asked, “Just curious, what is your son’s other variant?” I shared Rowland’s, 2184insA variant and she screamed, “Wait! What? That’s what Sebastian’s other variant is.” I asked if she was sure. After all, according to the CFTR2 website, which documents how many individuals with CF have certain variants, there are only nine people with H609R and 324 people with 2184insA, but no documentation of this variant combo. Shockingly, we learned in that conversation that our sons have the same two variants. The chances of winning the lottery are more likely than this.
While we both recognize that individuals living with CF with the same variants can have different symptoms, this new piece of information instantly connected us in a way that many people could never understand.
Through our conversations, we discovered that we are like-minded individuals who both process the CF diagnosis similarly — through research. We have shared the sheer pain and fear we feel about the uncertainty of when we will gain access to Trikafta for our sons. We have discussed how, as mothers, we knew something was wrong with our sons months before we received a diagnosis — and how we navigated through being dismissed as an anxious postpartum mom. We have shared our sorrow, anger, and frustrations over larger inequities that exist in CF healthcare as well as the complexities of our emotions from our sons’ delayed diagnoses.
When Rowland kept vomiting at night and I felt like it was more than just reflux, but then started to doubt my intuition, Vicky continuously validated how I was feeling. She reminded me to trust my gut and suggested how I could advocate for my son to his CF care team. When Rowland was hospitalized for “presumed pancreatitis” and I felt defeated, exhausted, and just incredibly angry, she was one of the first people I reached out to. In addition to support and encouragement, Vicky has excellent suggestions on how to navigate difficult situations.
I always enjoy receiving WhatsApp voice messages from Vicky. Our friendship has evolved beyond only CF talk. I’ve learned about the city she lives in, the Canadian healthcare system, and our shared interests of the outdoors and running. I learned what Fanesca is (an Ecuadorian Easter soup) and what cities in Ecuador her family has called home. It’s also enjoyable to chat with her about topics other than CF and I feel I have become more connected to my Ecuadorian heritage.
While it has been therapeutic to swap stories, share hopes and fears, learn about each other’s lives, and be there for one another, there also is a power that exists — a fierce passion that continues to be ignited when two moms come together with a desire to advocate for the quality and longevity of their children’s lives.
Together we continue to build upon one another’s energy and drive. Right now, we have a shared goal of getting our sons on Trikafta. We have sent emails to researchers who are doing amazing work that could help our sons gain access. We have met virtually with medical professionals — including in Ecuador — to understand what resources or lack thereof exist and to learn more about how H609R functions. We have shared probably every research article concerning H609R to date with one another. We have talked about going to Ecuador together one day and visiting the CF community there. We have navigated the discomfort that exists with being public with our stories.
To advocate for our sons and others with rare variants, it’s important to share our experiences. I would not have had the courage to do any of this without Vicky. None of this would have happened without Vicky.
I feel it is a gift from God to have found a lifelong friend, and to be able to partner with her in this fight. I just can’t believe how lucky I am. What a lonely journey it would have been for our family if I had not connected with Vicky. I am glad we don’t have to do this alone. In the midst of this terrible disease, I have found beauty in connection, and I am so thankful for that.
Visit the Toronto Star to read Vicky, Sebastian, and their family’s story.
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