Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen
ONCE UPON A GENE – EPISODE 132
Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwen
Karen McEwen has an 18 year old daughter with laryngeal cleft primary ciliary dyskinesia (PCD). Her and her daughter have been active advocates through speaking, writing and support groups. They’re also fundraising for the PCD Foundation and working to get a PCD clinic at major hospitals in every state.
Tell us about your family and your daughter Elana.
My daughter Elana is 18 years old and a freshman in college. She has a rare disease called primary ciliary dyskinesia (PCD). I have another daughter, Madison, who is 11 years old and she’s healthy. When Elana was born, she coughed before she cried. The doctors said she had fluid in her lungs from birth and that it wasn’t anything to worry about. Two days later, she went for a check-up and she was sent for an x-ray. Since then, she’s suffered from repeated pneumonia, bronchitis, ear infections, sinus infections and other upper respiratory problems. Elana has had over 60 surgeries, has been hospitalized over 100 times and she’s had to get hearing aids as a result of the disease. She’s been so resilient through everything.
Is it difficult for kids to get diagnosed with PCD?
The PCD Foundation has a goal of establishing a PCD clinic in every state. For a PCD diagnosis, the process of collecting samples is very precise and requires special equipment. Having a clinic in each state would provide easier access to diagnostic procedures. Elana and I have spoken at several hospital family day events, medical schools and at rare disease day hoping to spread awareness about PCD and ease the diagnosis journey for affected families.
How have things changed with Elana being grown and away at college?
I feel like I’ve been fired. Now that she’s 18, she wants to take the lead on her own appointments. After taking her to hundreds of doctors appointments and being through all the hospitalizations, picking her up from school- it was weird to watch her pull out of the driveway and go to an appointment without me.
What superpowers do you feel you have?
I can learn a lot of new things and do things I never thought possible. Being on this journey with Elana, I’ve had to learn medical terms, learn how to care for her, research and figure out how to conduct fundraisers, speak at medical conferences and our state capitol.
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