From Bewitchment to Genetics: Cystic Fibrosis and Emily’s Entourage

“If it tastes salty when someone is kissed on the brow, then this person is hexed” (bewitched).”

“The child will soon die whose brow tastes salty when kissed.”

Cystic Fibrosis and Emily’s Entourage

Bewitched children…with salty skin died.   For centuries, children with Cystic Fibrosis lived short, terrible lives.  It took until 1954 for something to change. On learning the devastating news that their son and daughter, Lee and Kathy, had cystic fibrosis, two parents, Milton and Evelyn Graub, decided to do something.  Perhaps empowered because he was a physician, they found other parents, held their first fundraiser and in 1955, and founded what is now the Cystic Fibrosis Foundation (CFF).

Because of the research funded by CFF, the life expectancy of people with cystic fibrosis is now 40 years.

A 29-year-old Powerhouse

Emily Kramer300Enter Emily Kramer-Golinkoff, a 29 year old powerhouse who is determined to transform cystic fibrosis (CF) from a disease people die from to one that people live with.

Since birth she has been the focus of teams of health care providers because, as she states, “CF is an intrinsically entwined part of every single second, every single breath [of my life]…My health is part of every moment:  and care is what allows me to engage meaningfully and productively in all of this, my life.”

Social Connection Heals

Her journey with the healthcare system hasn’t always been easy.  For eight years her medical team ignored her life and her feelings with the result that it
disengaged me from my healthcare team and …made me emotionally distance myself from CF.  My goal was to minimize CF in my life and that is a dangerous goal for something that is intrinsically entwined in every fiber of your body.”

Her life changed when she moved to an adult CF treatment team.  This medical team listened and worked with her, integrating her care with her life. “I’m very fortunate to have a healthcare team that respects me, encourages my active participation in care and treats me holistically.”  But she is firm in the belief that luck should have nothing to do with receiving this type of care.  “I’m not okay relying on luck to find collaborative healthcare providers. Everyone deserves to be heard, valued, empowered in healthcare. I’m using my story to advocate for the enormous benefits of collaborative, socially connected care and participatory medicine.”

Social connection is crucial to health and healthcare, Emily maintains.  A little known fact about <a href="http://hchlitss.net/2014/06/20/transcript-chat-emily-emilykgkramer-golinkoff-cystic-fibrosis-research/”>CF is that people with CF cannot be together.  Those with CF produce mucus in the lungs.  That mucus holds onto infectious agents.  This is not a problem for the general population but it is a big problem for those with CF.  “Support is vital for dealing with chronic, fatal diseases. It’s really tough when your fellow disease compatriots are your biggest threats from a cross infectious standpoint. “  People with CF can pass on infections to each other with catastrophic and fatal consequences.  Social media has brought her together with other people who have CF.   She “stumbled upon an online CF community about 5 years ago and it changed my life. For the first time I realized other people were dealing with the same things.  Online community is my only safe lifeline [to other people with CF]. The online CF community provides invaluable information and support. “

And her medical team values her social media community–“My doctor now asks ME about creative treatment options I’ve heard of through the online CF community.”

Knowing Genetics

Protein_CFTR_PDB_1xmi250CF is the result of a gene mutation on the 7th chromosome that is responsible for producing CFTR.  CFTR is a protein involved in the transport of sodium and chloride or salt.  Changes in it effect systems in the body that produce fluids, like the digestive and the respiratory tract.  In 90% of people with CF, the pancreas degenerates and is replaced by fibrous cysts.  The lungs accumulate thick mucus, and bacterial infections eventually destroy the lungs.

Emily has advanced-stage CF and CF-related diabetes. Advanced stage CF refers to the degree of permanent lung damage that has occurred.

Although the Cystic Fibrosis Foundation has done outstanding work in moving the life expectancy of people with CF from age 2 to 40, “they are focused on the masses, the nearly 90% of patients that have the same mutation called df508.”  Unfortunately Emily’s mutation is different.  Though CFF does fund research for rarer mutations, the “majority of emilysentourage250their efforts are appropriately on the most common CF mutations.”  This is why Emily, her family, and friends have established their own nonprofit, called Emily’s Entourage.  “With Emily’s Entourage, I’m using my voice to try to direct research attention to rare CF mutations.”

In 2 ½ years, Emily’s Entourage has raise over $650, 000. “Those funds go towards accelerating research with a focus on rare CF mutations.  Currently we’re funding trailblazing work at UCSF that is focused on my rare mutation. We’ve been very fortunate to have wonderful researchers helping to drive Emily’s Entourage’s mission forward.  The aim… is to find new treatments and ultimately achieve control/cure for everyone with CF.”

In a post on the entourage website, Emily describes the reality that those who are healthy often forget, “The truth is that life is fragile and tenuous for everyone, but I think those of us with CF and other life-threatening illnesses live with an acute awareness of this reality every single day.”

Even so, she dreams.

First published on LinkedIn.

To learn more about Emily’s Entourage, visit their website at www.EmilysEntourage.org or connect with them on Facebook (www.facebook.com/emilysentourage), Twitter (www.twitter.com/emsentourage4cf) or Instagram (www.instagram.com/emilysentourage).

 

Based on the Health Communication, Health Literacy and Social Science #HCHLITSS Tweet Chat.  To learn more visit http://HCHLITSS.net

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