Justin Hopkin wears a lot of hats and makes them all fit to help serve others

Justin Hopkin wears a lot of different hats. Doctor, father, husband, and rare disease advocate just to name a few.

But, to Justin, no matter what hat he’s wearing, they all kind of look the same. That’s because Justin is committed to helping and serving others first. At the top of that list is his son.

Justin’s priorities changed significantly when his 10-year-old son, Garrett, was diagnosed with Acid Sphingomyelinase Deficiency (ASMD) also known as Niemann-Pick Disease Types A (NPD A) and Type B (NPD B).

This serious, rare and potentially life-threatening genetic disorder causes accumulation of the unmetabolized lipid sphingomyelin in cells, resulting in damage to major organ systems.

The native of Wyoming had returned home after medical school in Washington and residency in Colorado to practice inpatient and outpatient internal medicine in a rural medically underserved community.

Suddenly his profession and job became secondary. Garrett was his priority. In order to be closer to the best doctors to administer the clinical trial for his son, the Hopkin family moved from Wyoming to Rochester, New York.

Garrett has been fortunate during the pandemic, according to Justin. The clinical trial he has been going through the last four years based in New York City was only partially impacted. The in-person portion of the trial, receiving an infusion in New York City, went away when the pandemic started spreading in March. But over a year ago, 10-year-old Garrett started a home infusion portion of his trial. And the tricky home infusion part of the trial worked out “pretty well”, Justin said, but that’s not the case for all Niemann-Pick Disease patients.

Finding the right home nurse to not only administer the infusion and monitor all the levels had been a struggle for the Hopkin family. Fortunately at the beginning of the pandemic, a nurse from Buffalo named Stephanie was able to check all the boxes.

“We are so fortunate to have found her. I can’t begin to tell you how grateful we are for what she’s done for Garrett and our family,” Justin said. “She drove through bad weather and has put a lot into caring for Garrett. It’s been such a blessing with everything going on.”

Knowing his son was getting the medical care he needed allowed Justin to continue to wear those multiple hats during the pandemic.

“When it comes to being rare there’s never a cookbook. They are all trailblazers. It’s an amazing group of people that live and work in this space.”

Justin Hopkin

He is currently serving in a leadership role with the National Niemann-Pick Disease Foundation as the Board Chairman.

And most recently, Justin has been dealing with the COVID-19 pandemic as Chief of the Hospital Medicine Division at Strong Memorial Hospital in Rochester.

His unique perspective in the last four months spreads across a wide range of issues; his son, his work and the rare disease patients he serves in the Niemann-Pick Disease community.

“There are buckets of things we are all dealing with these days. Access to basic medical care has been impaired by all this. Some of it is just general care. For a number of patients in our community that were participating in a clinical trial, those trials are not continuing.

“And the FDA has slowed down the wheels on clinical trials overall as well. We don’t have an approved therapy for Niemann-Pick Disease for either kind. Is this going to be a 3-4 month delay? Are we going to pick up the pieces and resume at the end of this pandemic? That’s why I say there are buckets of things we are all dealing with these days.”

Mentally, he said, you don’t need to have a rare disease to be impacted by what everyone is going through.  The support he’s seen from the Rare Disease Community has inspired him as the Board Chairman of a national rare disease foundation.

“Every athlete talks about facing adversity and how you respond to that adversity is critical,” said Justin, whose son and family was hosted by Uplifting Athletes and the Buffalo Bills for an Uplifting Experience late last season that showed him intimately the power of sport. “What I’m seeing from the Rare Disease Community during this pandemic is responding to another level of adversity. It’s been tough, but they are responding.

“I see the rare community still talking to industry and still constantly pushing. There was still measurable progress being made. It was slowed for sure. The things we could move on, we did.

Because those with a rare disease are already one of our most vulnerable populations, a worldwide pandemic has an even more significant impact on the community. Solutions and answers don’t always come easy, but the quest to continue to adapt and overcome still lives.

“Our patient conference is our biggest event of the year for our community because it’s the one week we come together and don’t feel rare. We can’t do that this year in person and that’s going to be tough. But we are adapting to make it work,” Justin said. “When it comes to being rare there’s never a cookbook. They are all trailblazers. It’s an amazing group of people that live and work in this space. No matter what, they continue to push the envelope to find solutions.”

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