In this issue: What is neutropenia and how does it happen in SDS; Study highlights the multibillion dollar burden of rare disease
Welcome to our weekly updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you!
What is neutropenia and how does it happen in SDS
Neutropenia simply means that a person's blood doesn't have as many neutrophils - a type of white blood cells - as it should. This puts the person at risk for bacterial (and other) infections. A large percentage of Shwachman-Diamond Syndrome (SDS) patients have neutropenia, at least for a period of time. The type of neutropenia that is caused by SDS is considered Congenital Neutropenia, because it is caused by a gene defect and can be present starting at birth without any other cause.
A few weeks ago, we had the pleasure to attend a lecture by Prof. Dr. Leo Koenderman,
Department of Respiratory Medicine and Center for Translational Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands, organized by Dr. Valentino Bezzerri, PhD, Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy, as part of the Young-EuNet-INNOCHRON online discussion series.
Dr. Koenderman explained the mechanism of neutrophil homeostasis - the process by which the body typically regulates how many neutrophils are circulating in the blood stream vs. stored in the the bone marrow. Over the past decade, a lot of the text book information has been updated regarding this process.
For a deep-dive into the topic, check out these PubMed references:
For a general overview on how neutrophils are produced in the bone marrow and how they work is available in these two videos:
Study highlights the multibillion dollar burden of rare disease
Annie Kennedy, chief of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare Diseases, tells PharmaPhorum about why the Foundation sponsored The National Economic Burden of Rare Disease Study, undertaking the challenge of examining the financial impacts of rare diseases.
"Our primary focus is ensuring we can work to eliminate barriers and identify challenges to therapeutic development for rare diseases,” Kennedy states.
Before the study, the Foundation had a large amount of anecdotal evidence or estimates regarding the financial burden of rare diseases. This study aimed to garner objective evidence of the economic burden of rare diseases by working with the broader rare disease community.
Health touches all facets of our lives. The cost of a disease goes way beyond what is billed to insurance for doctors, hospital visits, and prescriptions. These indirect costs include lost productivity and caregiver investment and are often underestimated, especially for rare diseases that aren’t codified in our medical systems. An accurate idea of this financial burden is necessary to establish more adequate care systems and priorities.
The EveryLife Foundation created a survey of 1,400 rare disease patients, comparing their 2019 expenses to documented direct healthcare costs. They quantified something that most families with rare diseases — including SDS families — already experience first hand. More than half of expenses were indirect and covered by the family.