Mistha Jackson Rare Disease Research

Rare Disease Research

Rare diseases individually affect a small number of people, yet over 6,000 rare diseases have been identified. A rare disease diagnosis can be scary, isolating and overwhelming.

Researchers at Spectrum Health are finding ways to help patients with rare diseases. Genetic testing often provides some answers about a rare disease. “Advances in genetic testing allows doctors to provide more answers, but it also brings up more questions” said Dr. Caleb Bupp, a medical geneticist at Spectrum Health.

There are no geographic boundaries to rare disease. The Spectrum Health rare disease team collaborates with local, national and international experts to help patients and their families. This includes identifying rare diseases, further understanding the causes of those diseases, finding treatments and sharing this work with other patients and medical specialists worldwide.

Rare disease is very personal to patients and their families. The  rare disease team provides cutting edge research opportunities to each patient individually, while simultaneously connecting them to support and expertise from around the globe.

Rare Disease Network

Spectrum Health is proud to support the Rare Disease Network, in partnership with Calvin University and Michigan State University. The Rare Disease Network connects every aspect of the rare disease community which reaches across local, state, and international borders. From patients and families, to students and teachers, to healthcare providers and advocates, every voice in the rare disease community matters.

One important function of the Rare Disease Network is connecting patients and families with clinical trials and researchers that can offer innovative therapies. Advances in precision medicine helps patients with rare diseases further identify and treat their rare disease using a personalized approach.

Rare Disease Day Symposium

Each year, Calvin University, Michigan State University College of Human Medicine and Spectrum Health Helen DeVos Children’s Hospital host a free event to unite patients, caregivers and families, medical professionals, researchers, advocates, and students around the common goal of understanding what it means to have a rare disease and what support is available.

Connect with the Rare Disease Network!

Website: rarediseasenetwork.net
Twitter: @RareCareNetwork
Facebook: @RareDiseaseNetwork 

Rare Disease Patient Stories

  • Mistha Jackson Rare Disease

    ‘An army of angels’

    Baby Mistha conquers a rare and deadly disease with help from an experimental drug and her mom's bone marrow.

  • Marley_Berthoud

    She’s one of a kind

    Groundbreaking research unravels a mysterious genetic mutation affecting little Marley Berthoud. And offers hope for her future.

  • Haylie Schneider Rare Disease Research

    Haylie’s mystery, solved

    The Schneider family faced profound questions about their daughter’s developmental differences. Advances in genetic testing finally revealed answers.

  • Raihlynn Voss

    New study scrutinizes birth defects

    Michigan family hopes their participation in long-term, international research will shed light on their young daughter's medical troubles.