Living With A Rare Disease: Writing Through Chronic Illness

By CooperGenomics — January 2, 2013

2 min read

Worldwide, there are between 5,000 to 7,000 rare diseases in existence.  For those living with a rare disease finding access to proper care or an appropriate network of support can pose a significant challenge.  Today there are many different organizations and personal advocates working towards increasing awareness of rare disease.  For Laurie Edwards, Author, Mother and Professor at Northeastern University, living with Primary Ciliary Dyskinesia (PCD) has motivated her to inspire others living with chronic illness.

Growing up Laurie Edwards was plagued by ear and sinus infections. After countless trips to the doctor, a variety of diagnoses and 20 ear surgeries, a now 23 years old Laurie found herself sicker than ever and fighting to survive in the ICU.  Prior to her trip to the ICU, she had been diagnosed with severe Asthma, which she had been managing throughout college.  While in the ICU doctors maintained that this was just an extreme worsening of her asthma and gave her steroids to help her symptoms – which only worsened the pain and breathing difficulties.  Once discharged, Laurie went to see a pediatric Cystic Fibrosis Specialist – which is when she was finally diagnosed with Primary Ciliary Dyskinesia (PCD).

PCD is an autosomal recessive genetic disease which causes defects in the movement of the cilia lining the respiratory tract, fallopian tubes and also the flagella of sperm. Due to the loss of ciliary activity in the respiratory tract and lungs, people with PCD suffer from chronic and recurrent infections due to a complete or partial inability to clear mucus from the lungs.  Those with PCD also face fertility issues due to a lack of sperm motility and lack of motility in the cilia lining the fallopian tubes.  PCD can also lead to other complications such as bronchiectasis and in rare cases hydrocephalus.

In addition to her PCD Laurie also has bronchiectasis, thyroid disease and celiac disease.  However, she has not let her struggle with chronic illness take away from living a full life.  Despite the links between impaired fertility and PCD, 2 years ago Laurie gave birth to a healthy baby girl.  In addition to her roles as Mother and  Professor, Laurie has written two books.  In her first book, Life Disrupted, Laurie shares her struggles and triumphs as a young adult struggling with chronic disease.  Her second book, In the Kingdom of the Sick (Spring 2013), takes a different approach to chronic illness as it catalogues the social history of chronic illness in the United States.  Through her website and books Laurie hopes to promote “ a universality of patient groups” and the “importance of shared experience.” “People with chronic diseases are  living longer – adapting. The rare disease community is so small, it is important that those with shared experience, share those experiences and reach out for solidarity.  Today, social media is changing the rare disease population, allowing for better patient advocacy and spreading information for drug trials – communication is the key to awareness.”

To learn more about Laurie and her work you can visit her website. like her website on Facebook or follow her on twitter @achronicdose. To learn more about PCD you can visit The PCD Foundation.

To learn more about rare diseases and how you can help raise awareness visit The Global Genes Project or Rare Disease Day.

If you would like to share your rare disease story with CooperGenomics, you can e-mail us here.