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Patient Worthy •

My Cause My Cleats 2023: Raising Awareness

During the NFL’s My Cause My Cleats initiative, passion and purpose collide on the field. This initiative embodies the profound bond between athletes and the causes that matter to them that transcends the game itself. Each touchdown becomes a tribute; every tackle signifies a stand against unseen adversaries.

At first glance, rare disease, chronic illness, and football seem disconnected. Yet both sports and rare disease require resilience, persistence, and advocacy.
Patient Worthy •

INTERVIEW: The Costs of Preventative Care

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

The Cost of Preventative Care in Chronic Illness and Rare Disease—and Why We Need to Talk About It

There’s no way to sugarcoat this: living with a rare disease or chronic illness can be incredibly expensive.

On average, it takes anywhere from 4-8 years to receive a rare disease di
Patient Worthy •

CureDuchenne Clinic to Serve DMD Families

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

CureDuchenne Clinic in Greater Dallas Area Aims to Improve Treatment Accessibility and Care for Underserved Families with DMD and BMD

Debra and Paul Miller started CureDuchenne in 2003, a global nonprofit to spur research into and find a cure for Duchenne muscular dystrophy (DMD),
Patient Worthy •

NFL Players Share Meaningful Rare Causes (P.1)

From September to January each year, our home transforms; each Sunday, my boyfriend and I meticulously set up our living room, make snacks, and spend the day watching football on no less than three screens. Of course, we keep tabs throughout the week on Monday and Thursday: closely evaluating our Fantasy Football teams, trading details on player stats, and ordering (yet another) team sweatshirt from our favorite team.
Patient Worthy •

INTERVIEW: Seahawks DE Discusses FPIES

Shelby Harris is no stranger to facing challenges; throughout his football career, Harris has remained as a strong and steady defensive lineman with a career 22.5 sacks as a pass rusher prior to joining the Seattle Seahawks in 2022 (since joining the Seahawks, Harris has registered 29 tackles, 13 assisted tackles, and 2 sacks). But one of his biggest challenges he faced off of the field: his son’s diagnosis of food protein-induced enterocolitis syndrome (FPIES).
Patient Worthy •

Saving Jordan: Pursuing a TECPR2 Cure (Pt. 1)

There seems to be no limits when it comes to what a parent will do for their child. And when it came down to it, David and Stacey Ogman knew that they would go to whatever lengths it took to ensure that their children were okay.

You see, their son Jordan was born with an ultra-rare genetic brain disease called TECPR2. My own research has found minimal cases of TECPR2 described in medical literature over the years. So when David and Stacey were faced with this diagnosis...
Patient Worthy •

Creating Perrarus: An Interview with Katharina Clark (Pt.1)

Katharina Clark has always wanted to make a difference. For as long as she can remember, Katharina has held a keen interest in the healthcare sector. Before she was diagnosed with adult-onset Still’s disease (AOSD) and relapsing polychondritis, she volunteered for the National Institutes of Health (NIH) as a translator for rare disease patients and their families. After her diagnoses, Katharina still wanted to make an impact, to improve the world around her not only for herself, but for others...
Patient Worthy •

Apitegromab Improves SMA Function, Study Shows

The American Academy of Neurology (AAN) held its Annual Meeting from April 22-28, 2022. During the meeting, various stakeholders discussed trends, science, and research within the field of neurology. According to SMA News Today, one presentation focused on data from the Phase 2 TOPAZ clinical trial. This study focused on the safety, efficacy, and tolerability of apitegromab for spinal muscular atrophy (SMA) types 2 and 3.
Patient Worthy •

Help a Family in Ukraine Whose Daughter Has SLC6A1

Over recent weeks, stories have emerged regarding the frightening situation in Ukraine. People have lost their lives, their homes, and their sources of income. So what happens to those like the Maiier family, who lost their only source of income – income that they need to provide life-saving treatment to their daughter? Varyusha Maiier, also known as Varya, was born with SLC6A1 epileptic encephalopathy, a rare genetic disorder. She is the only known diagnosed case in Ukraine.
Patient Worthy •

A Fulfilling Life with Late-Onset Tay-Sachs (LOTS) Pt. 1

48 years of marriage, 2 children, 2 nephews, 7 grandchildren, and 3 great-nieces. It is clear that Lorrie and Stewart Altman, over their time together, have created a beautiful life. When asked how they persevered in the face of challenges, Lorrie shares:

This outlook has not only helped the Altman family grow into what it is today, but has helped them learn about and cope with Stewart’s late-onset Tay-Sachs disease (LOTS) diagnosis.

I recently sat down with Lorrie and Stewart to discuss LOTS,
One Day Itinerary •

One Day in Reykjavik (Guide) - What to do in Reykjavik, Iceland

Reykjavik is the largest city in Iceland. The capital of the country, this southwestern city sits right on the water. The population of Reykjavik is just over 122,000 individuals but sees a large influx of tourists every year. Reykjavik is the northernmost capital in the world and the status of a cultural hub in which tourists can truly feel the Viking spirit. As a stop on the Ring Road, which can be driven on around the entire country, Reykjavik is a great place to spend an entire trip or a won
Patient Worthy •

Kenzi’s Commitment to Raising FCAS Awareness

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

The world had come to a sudden, screeching halt.

At least that’s what it felt like to Makenzie (Kenzi) Cabrera when she and her husband Julious learned that their son Josiah had familial cold autoinflammatory syndrome (FCAS).

Josiah’s genetic variant was not in any database; to th
Patient Worthy •

Interview: Talking Clinical Trials and RP with ProQR (Pt. 1)

Clinical trials, drug development, and medical research have the potential to change the therapeutic landscape for patients with a wide variety of conditions. At ProQR, founder and CEO Daniel de Boer chose to focus his mission on addressing genetic eye diseases. He explains:

ProQR has worked hard towards this mission, with four drugs being tested in clinical trials and a few dozen others in the pipeline for development. In December 2021, I reported on two Phase 2/3 clinical trials (Sirius and C
Patient Worthy •

New Genes Linked to Familial Meniere's Disease

Meniere’s disease is a rare inner ear disorder characterized by “attacks” of tinnitus, ear pain, ear pressure, and dizziness. While doctors have long pondered the exact cause of this condition, some believed that genetic predisposition could play a role. In fact, an estimated 10% of those affected have a family history. According to News Medical, researchers and scientists from GENYO, ibs. GRANADA, and the University of Granada recently discovered genes linked to the development of familial Meni
Patient Worthy •

AllStripes: Leveraging Science for Rare Disease Research

For as long as she can remember, Nancy Yu has been entranced by the intersection of science and technology. In fact, as she describes it, she imagines a world in which no barriers exist between these two elements. A world in which science and technology can come together and be leveraged for the betterment of society. After learning how the various elements within the science and healthcare fields fit together, the concept of AllStripes was born.

Co-founded with Onno Faber, who has a rare disea
Photo by Karolina Grabowska on Pexels
Fair Shot For All •

4 Tips to Graduate Debt-Free

It is no secret that the student loan debt within the United States is out of control. There are 44 billion borrowers nationwide leading to about $1.26 trillion in debt.

In Massachusetts, 76% of graduates have student loan debt at an average of $30,000. Out of the 10 colleges where students have the most loan debt, five are located in this state.

Unfortunately, this type of debt is not unique to any one state. Student loan debt prevents students from entering into the economy and becoming more