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  • Writer's pictureMelissa Keenan

The Consequence of a Caring Connection

Updated: Jun 20, 2023

Daniel has spent a lifetime coming to terms with his ultra-rare disease, but now his focus is finding a treatment for the children in his family.

By the time the zoom meeting connection goes through, we’ve exchanged a few emails, but not much. It is my first “interview” with a rare disease patient and I really don’t know what to expect. I’ve read the few papers on the disease, know that Daniel has a son who he is concerned about and their family lives on the other side of the world, but besides that, well, I just tell myself “Remember to listen.”

Maybe having a rare disease story is like dating in your 30’s (but I’m lucky enough not to have to deal with either, so this is me just trying to find a connectable analogy)—You must be ready for the hard conversations upfront and be open to sharing because no one has time for bull**** anymore. It’s amazing who I find on the other end of this zoom story, when I listen.

Daniel is easily one of the most self-aware and consciously reflective people I have ever met. He is 36, has lived on multiple continents, and is extremely active in his second career as a physician. Personally, he is married and the father of two young boys.

Daniel has an extremely rare form of myopathy. His family’s disease is caused by a single DNA nucleotide change that results in an alanine to proline substitution mutation in one of the myosin motor protein genes, MYH7. No other family in the world has the same mutation; one other family has a similar single base pair mutation just a few bases away, changing an arginine to a proline (pedigrees in figure). Within his genealogy, there are six people with the mutation, two of whom are still children. His symptoms are more severe than his fathers and he can tell that his son’s are worse than his were at the same age. Over the past few years Daniel’s symptoms have worsened, and now walking is exhausting and challenging. He tells me, “Going for a walk. Yes, I miss going for a walk.” But that is the now of Daniel’s story, how did he get here?

(Read our next post to learn more about the genetics and drug development concepts for his MYH7 mutation.)

Daniel was born in Canada and grew up living with his father, mother and younger brother. He knew he was different from a very young age, but the rule in the house was to not talk about “the myopathy” for the risk of it overcoming and breaking you. As such, he felt different, but lived in a gray zone of not knowing, of being in between handicapped and normal.

He remembers the first time his mother took him for a walk and told him he had a form of myopathy. It was already a few years after he had realized that academics were going to be his way to success—which he recognized by the first grade. Daniel clearly remembers that conversation ending with his mother reassuring him “But don’t worry, there will be a pill.” And so, he waited. His family waited.

Daniel’s main goal for childhood was different from most children: his goal was to hide his disease. Looking back, how silly he says he must have seemed, trying to hide something that everyone could tell was there. And yet, the burden and struggle to hide his symptoms was a defining feature of the first decades of his life. It worked, for a while. Early morning workouts to try to stay strong and not be too thin, constantly reminding himself “Heel first” (toe then heel placement when walking is a feature of his disease) or “Stand up straight” (curvature in the spine is also a symptom). But by 15, Daniel started losing his hair, and baldness was tough to hide. Can you imagine trying not to be yourself your entire childhood? What a truly heavy burden.

He left Canada and moved to Israel. It was supposed to be a short time in a yeshiva, studying Judaism in the morning and engineering in the afternoons. It was a safe space for Daniel; sheltered and welcoming, it allowed him to avoid addressing his disease. But, as the years passed, he realized that that life he had built wasn’t really him. He didn’t want to live religion and engineering, he needed a change.

When Daniel was 21, his mom suggested he talk with a therapist. Eventually, after weeks of discussion and challenge and reflection, Daniel came to accept that he has a myopathy. He came to accept what it meant and how it shaped himself and his family members. During this time of self-realization, he also met the lady who later became his wife, decided to become a doctor, and moved to attend medical school in a new city. It was a time of taking control and taking back his life.

Besides offering a new career with a new purpose, medical school was a turning point for Daniel and his relationship with his myopathy. He started making connections with his professors, who knew other professors, geneticists, scientists, and pharmaceutical researchers. These relationships brought amazing progress: his genome was sequenced and a causative mutation for his disease was found (at position 4309 in MYH7, see Figure). They also brought defeat like disagreements over micromanaging research progress or not being forthcoming with results, leading to no progress at all.

Figure adapted from: Feinstein-Linial M, Buvoli M, Buvoli A, et al. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet. 2016;17(1):57. Published 2016 Aug 12. doi:10.1186/s12881-016-0315-1
Figure adapted from: Feinstein-Linial M, Buvoli M, Buvoli A, et al. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet. 2016;17(1):57. Published 2016 Aug 12. doi:10.1186/s12881-016-0315-1

As he fought for answers and help through his professional connections, his fight became even more personal. Daniel and his wife had their first baby, a boy. Although he and his wife could see the subtle signs when he was a baby, it wasn’t until his son was four months old did Daniel receive the call from a geneticist saying his son was positive for the mutation. Daniel received the call when he was on his way to a 12-hour shift in the pediatric emergency room. He went to that shift and to this day is glad he did, to have something else to think about, to focus on, rather than the thought that his baby boy was destined to the same challenges he’d been enduring for years.

As for most parents, once Daniel became a father, his attention shifted from himself to his son. But Daniel has a rare parenting challenge: advocating for discovering a treatment for his son’s rare disease. Recently, Daniel’s nephew was also diagnosed with the mutation. Improving the livelihood of the next generation of his family is the hope that drives Daniel now.

Eventually, one of Daniel’s connections led him to an American pharmaceutical scientist. This woman stood out to Daniel because, from the first time they spoke, he could tell that she cared. She cared about their connection, she cared about the patient she was trying to help, for that person, for Daniel. Although some subsequent relationships fell through, another one came through: a previous colleague of this scientist was starting a new company to design oligonucleotide drugs for rare diseases. Meeting Jeff (Jeff Milton, CEO of La Jolla Labs) has been a “huge comfort to the whole family.” In addition to Jeff being “a class act” personally, Daniel’s sense of comfort stems from the fact that Jeff cares. Another connection who cares, who is available, who is communicative. For that, Daniel’s whole family is so very grateful.

So, for now, Daniel is still learning to deal with his disease, just as it continues to progress. He tries his best to be a good example for his son—including with a good sense of humor and “showing off his myopathy life hacks.”

Following Daniel’s lead, I reflected on our conversation. For me, Daniel’s story teaches me that a willingness to talk about tough topics can have a positive impact on how you see your life, how you live it, and how you give back to the world, both personally and professionally. His story inspires sadness, courage, determination, and hope. He reminds me that the love of a parent can make big things happen.

My final question for Daniel was “What do you want to tell others as your main message?” Daniel gave it a thoughtful pause and answered: “As a patient, doctor and father, I would say: You can’t underestimate the connection with someone who is treating you—having that caring connection is so significant.”

For Daniel and his son, his brother and his nephew, that connection has led to the possibility of a lifetime. We all can hope for that.

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