My friend Kelsey and her journey with A1AD

My friend Kelsey has A1AD and I was curious about her journey. She works with me at my house! I did know that A1AD was a thing that you could get in your lungs and could be carried down genetically in your family! I hope people will learn about Kelsey and her journey with her A1AD and her asthma!

Kelsey W: What is Alpha 1 Antitrypsin Deficiency and what does it do?

Kelsey G: Alpha 1 is due to a mutation in the SERPINA1 gene.  It is a lung and liver disease. It can effect either organs or both. My family is lung affected. If caught in time it can be managed with lifestyle, steroids and intravenous infusions. For more severe cases it can result in double lung transplants. Which both my dad and his sister have had.

Kelsey W What’s were your symptoms of Alpha 1 Antitrypsin Deficiency?

Kelsey G: My symptoms were Shortness of breath, wheezing chronic lung infection and knife stabbing pain in my ribs and back.

Kelsey W: Does this run in your family and who also has it?

Kelsey G: It started with my dad, then my brother and I were tested. We both carry the A1AD Gene. Both of my dad’s parents carry the gene. His brothers and sisters both carry it as well. When my dad was diagnosed, he was only the tenth person in Canada to be known to have it. So it was hard to find a doctor that specialized in it. But he found Dr. Lein at the U of A. Out of my brother and I, so far, only I have shown symptoms. But the more they learn about the disease the more they are finding that it can show up in your life at anytime. You can be healthy for 50 years and then it can activate and come out of nowhere.

Kelsey W: What is your advice for other people who have it?

Kelsey G: Stay active, don’t smoke and keep alcohol to a minimum. And if you feel like you even slightly are having a hard time breathing see a doctor! Early intervention can make all the difference.

Kelsey W: Do any of your kids have it?

Kelsey G: Because their dad does not carry the gene, they only have a 25% chance of it being passed down to them. We haven’t had them tested yet!

Kelsey W: How did you find out that you had asthma and A1AD?

Kelsey G: I found out that I had asthma when I was two. I was wheezing a lot so my mom took me to my pediatrician and they diagnosed me. Then at twelve, my dad got sick. After extensive testing he was diagnosed with A1AD. Because it’s genetic they tested my brother and I right away. We both carry the gene.

Kelsey W: Where did you grow up?

Kelsey G: Tumbler Ridge. A tiny town in northern BC. Weird thing is, out of a town of less then 2000 people and the disease still being relatively new, there have been 8 people diagnosed in Tumbler. 6 people belonging to my family.

Kelsey W: What’s your favourite memory of your mom?

Kelsey G: When we surprised her with her puppy Wiley.

Kelsey W: What’s your favourite memory of your dad?

Kelsey G: Since he has passed I can’t pick a favourite. All of them are so special to me.

Kelsey W: What did you do after school?

Kelsey G: I went back to school for business and accounting

Kelsey W: Were you popular in school?

Kelsey G: Tumbler was so tiny there wasn’t things like clicks or different groups of kids. Most of the kids were friends with everyone.

Kelsey W: What did you do for fun when you were a kid?

Kelsey G: Swimming or biking. We pretty much grew up at the arena. I figure skated and my brother played hockey.

Kelsey W: What are your hobbies?

Kelsey G: Being a mom, making spreadsheets for fun, traveling with my family and camping.

Kelsey W: Where have you travelled?

Kelsey G: Germany, France, Italy, Las Vegas, New Orleans and San Francisco.

Kelsey W: How many jobs did you have before this job?

Kelsey G: Panago pizza , foxsal communications then, I worked at a Bar, then moved here I worked at family services for children with disabilities. Then I came to team 12.

Kelsey W: When did you start your family?

Kelsey G: When I was 16, I started to take care of a little girl who became my own child. Then I met Joshua when I was 25, and we had our first baby in 2019.  I just has a baby girl in May 2022 her name is Averie.

Here is some information I found on the internet…

What Is AAT Deficiency?

Alpha-1 antitrypsin deficiency is a genetic disease, which means it’s passed down to you from your parents. It can cause serious lung or liver disease. You may also hear it called AAT deficiency. Symptoms often include trouble breathing and jaundiced, or yellow, skin. There’s no cure, but treatments can help you manage your liver and breathing problems. You get the disease because your liver doesn’t make enough of a protein called alpha-1 antitrypsin, or AAT. You need AAT to protect your lungs. Without it, infections and other irritants, like tobacco smoke, break down parts of your lung even faster. If you have AAT deficiency, you might not have breathing symptoms until you’re in your 20s or 30s. When they start, you could feel short of breath or wheeze when you breathe, just like someone who has asthma. For some people, AAT deficiency can cause chronic obstructive pulmonary obstructive disease (COPD). When you have COPD, you often have symptoms of emphysema, a serious condition that makes it hard for you to push air out of your lungs. COPD can make you cough up mucus, make you wheeze or have trouble breathing, and make your chest feel tight.


Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s