Staying up later than usual, high school math teacher Heather Toepfer decided to turn on news, without knowing that a single evening newscast in September 2016 would ignite a series of events and medical insights that she now believes have saved her life.
As the news of the Healthy Nevada Project seeking community participants for a groundbreaking new population health and genetics project unfolded, she grabbed her smartphone and signed up immediately.
A record of some 10,000 participants signed up within the first 48 hours of open enrollment. A few weeks later, Heather was spitting into a small tube and was thrilled to participate in a history-making health study in her community.
When Heather originally signed up for the Healthy Nevada Project, she was feeling pretty good health-wise. She was coming off a tumultuous personal roller coaster ride in the years prior, combating a host of confusing health challenges that often left her fatigued and scared for the future.
Unfortunately, her feeling of good health changed by the time she arrived at her scheduled appointment to collect her saliva. She was then trying to shake a lung infection that was holding on tight to her weakening body. She made it to her appointment, spit in the tube, and left hoping the results might provide some sort of insight into why she kept getting sick and just could not seem to function through daily life like everyone else.
A few weeks later, her results arrived in her email inbox. She enjoyed telling her family about her ancestry results as they were surprising and entertaining, but soon after thoughts about her DNA and any impact it might have on her health quickly faded away.
By late April of 2017, Heather was experiencing one of the worst years of her life. Inexplicable symptoms were plaguing her body. Doctors worked hard to find solutions, but nothing seemed to help, leaving everyone perplexed as to why she was experiencing such a wide range of symptoms and conditions.
Meanwhile, 23andMe had received Food and Drug Administration (FDA) approval to test for ten additional diseases or conditions. And because Heather had taken a 23andMe test as part of the Healthy Nevada Project, she was offered the new health insights at no charge. Unexpectedly, after a frightening visit to the local emergency room, this time because she was having breathing problems, she received an update from her genetic test results.
This time, there was additional information about her personal genetics results which would turn out to be the most life-changing information she would ever receive. Her expanded genetic results alerted about a possible Alpha-1 Antitrypsin Deficiency. She immediately made an appointment with her doctor to learn more. Tests confirmed that she had Alpha-1 and she immediately commenced treatment.
The Alpha-1 Foundation describes Alpha-1 Antitrypsin Deficiency as a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. For each trait a person inherits, there are usually two genes; one gene comes from each parent.
People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.
Knowing the real source of her poor health, Heather’s battle for stable health has now swung into full force. She is receiving weekly infusions and slowly beginning to improve and is no longer scared of what the future might hold. She credits all of this to what she calls “a once-in-a-lifetime opportunity.”
“I believe, if not for the Healthy Nevada Project and 23andMe’s FDA approval to release the additional health risk reports, I would be dead,” she explains.
Staying home and feeling sorry for herself is not an option. Heather’s young daughter inspires her to keep teaching and attack her condition head-on. Tapping into her natural leadership skills, she has wasted no time immersing herself into Alpha-1 advocacy.
To date, she has been involved in requesting a State of Nevada proclamation for November’s Alpha-1 Awareness month and she is spreading awareness by heading up social media outreach for her local Alpha-1 support group.
Accepting a recent challenge to record and share a personal Alpha-1 awareness video, Heather recorded her story and shared her challenges and breakthroughs on her Facebook page. After two weeks, her nine-minute video post has been shared 260 times and seen by more than 15,000 people.
Why she decided to turn on her TV and watch the local evening news on that serendipitous night remains a mystery. But, she knows the power of the Healthy Nevada Project will continue to grow in breathtaking ways that will forever impact the lives of Nevadans.