A Note from Dr. Valentino

Ana, Henri, Odette, Bill, Ida, Peter, Claudette, Julian, Rose, Danny, Kate, Sam, Elsa, Larry, Teresa, Fred, Mindy, Victor, Grace, Nicholas, and Wanda is not a list of my aunts and uncles but rather the 2021 names for each Atlantic tropical (and subtropical) storm. So, let’s learn a bit about hurricanes. Hurricane season officially begins on June 1 and ends on November 30 each year. The lists of hurricane names for each season are chosen by the World Meteorological Organization (https://public.wmo.int/en). There are six lists of names for Atlantic and Pacific storms, which are cycled through every six years. Most recently, hurricane Ida knocked out electricity to more than 1 million customers in Louisiana primarily due to over 14,000 damaged poles which carry the overhead electrical wires. Currently, more than a half million homes remain without electricity. One week after the storm struck it has claimed the life of 82 Louisianians. Southwest of New Orleans and Lake Ponchartrain is Lafourche Parish, which bore the full raft of the storm. There, more than 14,000 people are without homes and over 75% of the structures were destroyed. There is no power, no running water, little cellphone service and almost no gasoline. The area hospitals, Thibodaux Regional Medical Center lost power requiring people on mechanical ventilators to be supported by hand, Ochsner St. Anne Hospital and Chabert Medical Center in Houma evacuated more than 160 patients. Power outages, structural damage and large numbers of people needing care have continued to put pressure on the already struggling healthcare system in Louisiana. To make a bad situation even worse, parts of southeastern Louisiana and southern Mississippi, including Baton Rouge, New Orleans, and Gulfport, are under a heat advisory with temperatures into the 90s and a heat index between 100 and 105 degrees. Louisiana has a population of almost 5 million. Almost 2500 Louisianians are currently hospitalized with COVID-19 including nearly 500 on ventilators (https://www.ldh.la.gov/coronavirus/). The numbers of children hospitalized with COVID-19 continues to grow across the country. Data from the American Academy of Pediatrics indicates that for the week ending Sept. 2, more than a quarter of weekly reported COVID-19 cases were among children. Most striking is that the weekly cases in children surpassed 250,000 for the first time since the start of the pandemic, according to most recent data. You can find the graphic description of this data at the CDC site https://gis.cdc.gov/grasp/COVIDNet/COVID19_5.html. Until children under the age of 12 years are eligible to receive vaccinations to prevent COVID-19, masking is the only way to prevent infections in this age group.

Are we ready to learn more? Let’s all get familiar with the Greek alphabet- α, β, γ, δ, ε, ζ, η, θ, ι, κ, λ, μ, ν, ξ, ο, π, ρ, Σ, τ, υ, φ, χ, ψ, and ω. We are currently being challenged with the new B.1.621 or the μ (pronounced “Mu”) “variant of interest," which has been identified 39 countries, including the United States. B.1.621 harbors 17 mutations with 6 mutations on the spike protein, the target of the currently FDA-approved Pfizer vaccine and others with emergency use authorization as well as all in various stages of clinical development. Among its mutations, one S67F is unique to Mu and potentially problematic as this mutation may have implications for our ability to mount both cellular and humoral immune responses against the virus. In Colombia, where it was first isolated, it makes up 39% of cases and more than 2300 cases have been identified in the US. More information is needed to understand how quickly it spreads and what its level of contagiousness is. What is your best protection against this new variant? Medical experts recommend the best form of protection against the Mu COVID-19 variant, as well as all other variants, is to be fully vaccinated. Short of vaccination, masking remains an important measure of protection against infection.

Viruses are named according to the International Committee on Taxonomy of Viruses (ICTV). Human coronaviruses were first identified in the mid-1960s. There are currently seven known coronaviruses that can infect people including four that cause mild upper respiratory symptoms or “the common cold” and three that result in severe disease including: MERS-CoV (the beta coronavirus that causes Middle East Respiratory Syndrome, or MERS), SARS-CoV (the beta coronavirus that causes severe acute respiratory syndrome, or SARS), and SARS-CoV-2 (the novel coronavirus that causes coronavirus disease 2019, or COVID-19). The ICTV announced “severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)” as the name of the new virus on 11 February 2020 and was the predominant strain against which the currently available vaccines were tested against in humans. The original coronavirus causing COVID-19 disease mutated quickly, and the B.1.1.7 (United Kingdom) variant was designated as the alpha strain. Mutations in the virus may result in an increase in transmissibility (e.g., B.1.617.2 or δ “Delta” variant), make the virus more deadly (e.g., B.1.351, South African variant) or allow it to escape vaccine immunity (e.g., possibly the B.1.621 or Mu variant). For example, the delta variant is highly contagious, more than 2x as contagious as previous variants and poses the greatest risk of transmission among unvaccinated people who are much more likely to get infected, and therefore transmit the virus (https://www.cdc.gov/coronavirus/2019-ncov/variants/delta-variant.html). Fully vaccinated people infected with the Delta variant, so-called breakthrough infections, can spread the virus to others and emphasizes the importance of wearing a mask to protect yourself and others.

Now we come to an important question. What can we all do to protect ourselves, our loved ones and especially those who are not fully vaccinated, including children under 12 who cannot be vaccinated yet and people with weakened immune systems or underlying medical conditions? The CDC recommends the following: get vaccinated, wear a mask, practice physical distancing by staying 6 feet away from others, avoid crowds and poorly ventilated spaces wash your hands often, cover coughs and sneezes and monitor your health. More important information is available at https://www.cdc.gov/coronavirus/2019-ncov/prevent-getting-sick/prevention.html.

Before I close this note, I’d like to address the events that are forever embossed into our memories —some happy but others sad and solemn. The day of September 11 will forever be a dark day, as the nation was forever changed by the tragic events in New York City, a rural Pennsylvania field, and the Pentagon. I arrived at the hospital early each day to begin my work and frequently had the news radio on as was the situation on September 11, 2001. I recall standing in utter amazement at the reports of hijacked American Airlines Flight 11 crashing into the upper floors of the North Tower of the World Trade Center in New York. Tears flowed down my face as I heard the reports of hijacked United Airlines Flight 175 crash into the South Tower of the World Trade Center. It was clear these events were not accidents, and our nation was under attack. Please remember the 2,977 people who were killed on that day as well as their family members and the countless people who had their life changed forever because of the terrorist attacks. Always remember the sage words of philosopher George Santayana who said, "Those who cannot remember the past are condemned to repeat it." Learn more about how you can honor the memory of those who lost their life on that day and commemorate 9/11 by visiting the National September 11 Memorial & Museum.

Representing the Patient Community

When I was invited to take a seat at the table, I humbly accepted and pulled out my chair. (Well thanks to the pandemic, I sat at my desk and logged into ZOOM. But the metaphor remains!) As 41-year-old female living with Glanzmann’s Thromesthenia (GT), I’d never been a part of such an important conversation between patients and physicians. But, thanks to the upcoming State of the Science Research Summit (SOS), I can now add my voice to the important issues facing the community.

As a member of the State of the Science Research Summit Steering Committee, I was given the title of subject matter expert (SME). As a patient with lived experience, this term fits me well – I may not have an MD or a PhD, but I have a GT. No amount of education can really prepare one to understand what it is like to live with an inheritable blood disorder. I am an expert in the lived experience of woman with an ultra-rare disorder. I am the one that truly understands the unique functions of my body. I am also the one navigating the obstacles of our health care system, dealing with insurance companies, and figuring out co-pays for my factor medication. My situation is particularly unique as I transcend three identities; I am female, an ethnic minority, and a patient with an ultra-rare bleeding disorder. These attributes made me a perfect candidate for the Diversity, Equity, and Inclusion Working Group. 

Being part of the SOS allowed me to see and appreciate all the moving parts and collaborations that guide research. The presence of myself and other SMEs have been a strong and a constant reminder that the SOS would have a direct impact on individuals like myself. My hope that that my participation in groups like this is just the beginning of bigger things to come, and that the event is a success.

It is important for community members to be active participants and been seen as equal members in areas such as research collaboration, advocacy efforts, and in clinical settings. As my contribution the SOS committee begins to wind down, I reflect at what an honor it has been to sign into ZOOM with my title of SME. 

Esmeralda Vázquez, OTD,OTR/L, ATP
Pediatric Occupational Therapist/Assistive Technology Provider
Stepping Stones Therapeutics, Inc

Science and its Lifelong Impact

When I was twelve, Dr. Judith Graham Pool developed cryoprecipitate. Suddenly, the crutches and wheelchair that had been so constant in my life as a hemophilia patient were gone. Then, just two years later I was participating in clinical trials for the first clotting factor concentrates. These developments allowed me to go to college and pursue a degree in science. My first jobs were in laboratories, then computers in laboratories. When I started working with computers, I designed a database for hemophilia and presented a poster on it at my very first NHF annual conference in 1985. This opened my eyes to the science of hemophilia. I have been collecting data and presenting posters ever since.

In the early days, I was an oddity as “the consumer that worked on a clinical trial” or “the consumer on the Uniform Data Collection project at the CDC” – I was the lone patient voice in every committee or work group I served on. Now, there are consumers in all kinds of interesting positions in science, as proven by recent collaborations for the State of the Science Research Summit. These joint efforts help patients get medicines that meet our unique needs.

Science has given us new treatments that we could never have imagined when I was born. NHF has refocused its efforts to address these unmet needs. This State of the Science Research Summit incorporates stakeholders from clinicians, government and most importantly consumers, to reimagine research in a way that has never been done before. In addition to hemophilia A & B, there are work groups focused on Von Willebrand’s Disease, platelet dysfunction, and Ultra-Rare inherited blood disorders. Working groups specifically devoted to women & girls, diversity, equity and inclusion, and more, were also put in place to address specific community concerns. I was privileged to serve on two working groups, and look forward to the upcoming online event. The State of the Science Research Summit lets NHF and the community collaborate to direct the science like never before. The future has never looked brighter.

Randy Curtis is a California-based hemophilia patient who has dedicated his life to creating impactful data collection systems for hemophilia.

Insights from a BDC First-Timer

As a new addition to the inheritable blood disorders community, the 2021 Bleeding Disorders Conference was the perfect opportunity to ingrain myself in this special community and get answers to all the questions I’d silently been wondering like “What exactly is the difference between hemophilia A and B?” and “How do physical therapists learn to interact with this specific community?” – it was great to be able to choose exactly which sessions would make the biggest impact in my learning curve.

Even in a virtual setting, I never felt alone or bored by BDC. The energy and excitement was infectious, and everyone was so friendly, even from across a ZOOM screen. Plus, I was deeply impressed that BDC was truly a global event, with nearly 3,000 attendees tuning in from around the world! Judging by the photos that I saw on social media, the online gathering became a family affair, with people able to tune in and reunite with friends they’ve made from past BDCs. (There were also cats … lots of cats!). As one attendee shared online: “I miss seeing friends in person, but as an immunocompromised individual, I definitely appreciate the benefits of a virtual #NHF2021!” It’s great that BDC is still able to benefit the community, even in a ‘new-normal’ way.

Personally, I found BDC to be the perfect venue to meet amazing individuals and learn about the unique challenges facing this community. All the sessions I attended were incredibly informative, and all the networking hours were a welcoming and warm environment, even in a virtual capacity. I was surprised to feel sad when BDC ended – after all, it was only my first event, and I wasn’t sure what to expect! But I found myself so moved by the knowledge I’d gained and people I’d met. It has made me even more excited for the upcoming State of the Science Research Summit (Sept. 12-15) which will be a great way to carry the BDC momentum forward. Join me at the Summit by signing up for free at hemophilia.org/summit.

Ilana Ostrin joined the NHF staff in spring of this year, and is a member of the communications team.

NHF has four new fact booklets about Glanzmann's Thrombasthenia, Factor VII (7) Deficiency, Factor X (10) Deficiency, and Factor XIII (13) Deficiency. Each fact booklet explains how the ultra-rare disorder is diagnosed and provides information about symptoms, treatment options, and resources. Patients and caregivers can benefit from these new digital publications which can be accessed here.

 

These publications were developed with the support of NHF's 2021 Community Education Program sponsors: Bio Marin, Genentech, Hemophilia Alliance, Sangamo, Sanofi Genzyme, and Takeda.

 

Physicians, patients, and caregivers are also invited to attend a virtual Living Rare Educational Series event on Saturday, October 9 at 3:00 p.m. Eastern. The topic of this online event is reproductive health. Attendees will receive a free thank you box. Register for free here.

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