What do you say to a parent who gives birth to a child with rare deformities and specialists have no answers? Many parents might hear these words from their doctor, “We don’t know why this happened or if it will occur again.” Therefore, the parents might choose not to have another child.
That’s not what happened to me when my daughter was born with visible disabilities and other problems. When Heather was 18 months old, doctors only 3 cases existed in the medical literature with the same symptoms.
The geneticist concluded our consultation by saying, “A chain mutation caused this rare disease, and it won’t happen again.” So, I decided to have another baby.
Consequently, three years later, I gave birth to my son, Logan, who also had the same rare disease, which doctors named Miller syndrome.
Thirty-three years later, we still didn’t have answers as to why both of my children have this rare disease and also a lung disease.
Gene Sequencing Positively Changes Family’s Lives
In 2010, scientists did gene sequencing using my families entire genomes. This was groundbreaking science. As a result, this genetic research changed our lives.
As the first family ever to have our entire genome sequenced, we gained answers to why both my children were born with two rare diseases, finally giving us peace.
I was invited to give a talk to our nations deans of medical schools with my husband, Dr. Lynn Jorde, who is the department chairman of Human Genetics the University of Utah.
As a result, I received an invitation from the director of the National Institute of Health, Francis S. Collins, M.D., Ph.D., to give the capstone presentation at Albert Einstein College of Medicine.
Medical Students Benefit by Hearing Family’s Experience in Person
During the presentation, Dr. Robert Marion interviewed me about my life with two children, Heather and Logan Madsen, who both were born with the same two rare diseases, furthermore, he asked the medical students what odds they would give a mother in my circumstances. It’s always interesting to hear the students answers to this question.
He also asked me questions about the answers the geneticist gave me after Heather’s birth and what it was like for me when my son was born three years later with the same problems.
I talked about what it was like becoming the first family ever, to have all our genes sequenced and how this changed our lives.
We discussed many challenges that having rare genetic abnormalities pose for patients and their families.
This article highlights our discussion.
Article: Human Face on Cells and Molecules
Video: Capstone Presentation to Medical Students, Speaker: Debbie Jorde
Putting a Human Face on Medicine
Each year for the past 25 years, Heather, Logan and I speak to the first year medical students at the University of Utah in their human genetics class. We’ve now spoken to over 2500 students!
Following are videos of each of our talks, as well as a description of Miller syndrome by Lynn Jorde.
Heather, Logan, and Debbie’s Presentations for Human Genetics
Dr. Lynn Jorde Describes the Rare Disease Miller Syndrome
Video story about gene sequencing of our family, how genetic research helped us, and how you or someone you know can receive help too.
