A Special Day for Two Members of the Buchanan Community on Rare Disease Day February, 28, 2023
by Rebecka Hoyt, Editor & Photographer
Did you know there is a day dedicated to rare diseases? On the last day of February, this year being Tuesday, February 28 it was Rare Disease Day. Rare Disease Day is intended to bring awareness to all rare diseases. I got the chance to sit down with two people in our community who have the same rare disease. Buchanan City Commissioner Dan Vigansky, and 8th grade Buchanan Community Schools student, my daughter, Julie Hoyt both have Alpha-1 Antitrypsin Deficiency (also known as A1AT).
When the previous newspaper for Buchanan, The Paper, published a little write-up I submitted to them on two rare diseases that Julie has, Dan saw the article and reached out to my family and that’s when I learned that he had A1AT as well. It was a little refreshing to me that someone in this city knew what I was talking about and he gave us some helpful advice and still does.
What is Alpha-1 Antitrypsin Deficiency? It is a protein that is the wrong shape to transport out of the liver to the lungs in order to protect them. This makes those with A1AT, more susceptible to lung and liver diseases/disorders, which can lead to more lung infections, cirrhosis of the liver and just might need a lung and/or a liver transplant at any age. Also, it is heavily advised to avoid second-hand smoke and alcohol. Each person is affected by it differently, so each one has a different story. Read on to learn about Dan’s and Julie’s stories.
Dan was diagnosed with A1AT in 2014 at the age of 58 shortly after he had Emphysema. His reaction to it, “was a kick in the stomach,” he stated which is a pretty common reaction when you get a diagnosis that you learn has no cure for it. He then connected with the Alpha-1 Foundation and made a great Alpha net friend who he can talk to when he needs advice, help, or just to be there for him.
Some of Dan’s family has been tested for it and they carry some of the genotypes that are associated with A1AT like SZ, MS, MZ, ZZ, and MS. Dan sees a pulmonologist as well as a visiting nurse that comes to his home to help with infusions that “are intrusive and I watch carefully how they prepare it before they give it to me,” stated Dan. His work environment and lifestyle contributed to the diagnosis as he told us “working in an oil patch and smoking two packs of cigarettes a day led to this diagnosis.” His wife and him keep their home clean as much as possible with two air purifiers and place a furnace filter in front of a window fan to keep the air in their house clean. He has learned that if he were to get a lung transplant, that the lungs would also have to be the same size as his current lungs due to the size of his torso. In his opinion it is wise “if you can, wait until you definitely need the transplant, as you have to take like thirty pills two times a day, so that your body doesn’t reject the new lungs. And is it all worth it?” Dan is also on oxygen when he needs it. Certain lengths of walks can be hard for him.
Julie was diagnosed with A1AT in 2009 when she was 3 weeks old after she was transferred from the South Bend Memorial Children’s Hospital NICU to University of Chicago Comer’s Children’s Hospital. While being treated for swallowing meconium at birth, and not swallowing her milk correctly, her bloodwork showed that her liver enzymes were increasing with each blood draw which puzzled her doctor. They could only do so much for her and felt the need to transfer her. She was treated for the swallowing as they found a solution we could do with her at home and get a swallow study done in three months. Well, she passed that study! Getting this diagnosis for our brand new family was a hard one to take and many tears and prayers were said. “Technically, I have been learning about this from birth and it’s normal and I’m pretty used to it by now with all the bloodwork, and long car rides to doctor visits,” says Julie.
To stay healthy with A1AT, “I know to stay away from alcohol and smoking, and wish that other people would do that too,” Julie said seriously. So, this means when she turns 21, she will not have an alcoholic drink. Julie gets bloodwork for her enzyme levels, a lung function test, as well as a liver ultrasound to keep an eye on things. She has been maintaining her enzyme levels which are still slightly elevated but not of too concern. Julie stays active while playing floor hockey and indoor/outdoor golf. Not only does Julie have A1AT she also has CMT1X which is Charcot-Marie-Tooth type 1X. You can learn more about that on the National Organization for Rare Diseases website link at the end of the article.
The moral of their stories is to stay active as much as you can and establish healthy habits. To know more about Alpha-1 Antitrypsin Deficiency, visit their website here. There are other rare diseases in our community, so a hug to those who have one or more and we hope that you are doing well. If you would like to tell your story, please send an email to: email@example.com. To see the list of all rare diseases or to search for one, visit the National Organization for Rare Diseases website here.
About Rare Disease Day: Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year. Rare Disease Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organization partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.
National Organization for Rare Disorders (NORD) – rarediseases.org